AaeA
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b3241
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
Aromatic (carboxylic) acid efflux A
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Best Gene of All Time
A gene is a unit of heredity in a living organism. It normally resides on a stretch of DNA that codes for a type of protein or for an RNA chain that has a function in the organism.
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1
8.14
7 votes
2
Hsc70
Heat shock 70 kDa protein 8 also known as heat shock cognate 71 kDa protein or Hsc70 or Hsp73 is a heat shock protein that in humans is encoded by the HSPA8 gene.
The heat shock protein 70 (Hsp70) family contains both heat-inducible and constitutively expressed members. The latter are called heat-shock cognate (Hsc) proteins. The heat shock 70 kDa protein 8 also known as Hsc70 belongs to the heat-shock cognate subgroup. This protein binds to nascent polypeptides to facilitate correct protein folding. It also functions as an ATPase in the disassembly of clathrin-coated vesicles during transport of membrane components through the cell. Two alternatively spliced variants have been characterized to date.
HSPA8 is ATPase that works with auxilin to remove clathrin coated vesicles. In neurons, synaptojanin is also an important protein involved in vesicle uncoating.
Human Hsc70 has 85% identity with human Hsp70 (SDSC workbench, blosom26 default analysis). The scientific community has long assumed that Hsp70 and Hsc70 have similar cellular roles, but this assumption proved erroneous.
Unlike canonical heat shock proteins, Hsc70 is constitutively expressed and performs functions related to
6.88
8 votes
3
Alpha-2C adrenergic receptor
The alpha-2C adrenergic receptor (α2C adrenoceptor), also known as ADRA2C, is an alpha-2 adrenergic receptor, and also denotes the human gene encoding it.
Alpha-2-adrenergic receptors include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. Studies in mouse revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons; the alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity.
This gene encodes the alpha2C subtype, which contains no introns in either its coding or untranslated sequences.
7.71
7 votes
4
Escherichia coli 16S rRNA
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: rrsA, rrsB, rrsC, rrsD, rrsE, rrsG, rrsH
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
The 16S ribosomal RNA of Escherichia coli.
Molecular Weight: 499837.62 u
Version: NC_000913.2
7.43
7 votes
5
CaiF
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0034
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
DNA-binding transcriptional activator
8.33
6 votes
6
SurA
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0053
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
peptidyl-prolyl cis-trans isomerase (PPIase)
8.17
6 votes
7
Keratin 2A
Keratin 2A also known as keratin 2E or keratin 2 is a protein that in humans is encoded by the KRT2A gene.
Keratin 2A is a type II cytokeratin. It is found largely in the upper spinous layer of epidermal keratinocytes and mutations in the gene encoding this protein have been associated with ichthyosis bullosa of Siemens.
9.20
5 votes
8
Asymmetric crying facies
- Genome: Human genome
Asymmetric crying facies (ACF), also called Cayler cardiofacial syndrome, partial unilateral facial paresis and hypoplasia of depressor angula oris muscle, is a minor congenital anomaly caused by agenesis or hypoplasia of the depressor anguli oris muscle, one of the muscles that control the movements of the lower lip. This unilateral facial weakness is first noticed when the infant cries or smiles, affecting only one corner of the mouth and occurs on the left side in nearly 80% of cases. It is associated with other birth defects in more than 50% of cases.
When the hypoplasia of the depressor anguli oris muscle is associated with congenital cardiac defects, the term 'Cayler cardiofacial syndrome' is used.
Cayler syndrome is part of 22q11.2 deletion syndrome.
It was characterized by Cayler in 1969.
8.60
5 votes
9
HOXB7
- Chromosome: Chromosome 17 (human)
- Locus: 17 - [44039592,44043381]
- Genome: Human genome
Homeobox protein Hox-B7 is a protein that in humans is encoded by the HOXB7 gene.
This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded nuclear protein functions as a sequence-specific transcription factor that is involved in cell proliferation and differentiation. Increased expression of this gene is associated with some cases of melanoma and ovarian carcinoma.
HOXB7 has been shown to interact with PBX1 and CREB-binding protein.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
7.33
6 votes
10
HIS-selective medium
HIS-selective medium is a type cell culture medium that lacks the amino acid histidine. It can be used with bacteria reliant on the expression of a gene encoding proteins involved in histidine expression in order to survive (Joung et al., 2000). Only bacteria expressing such genes (such as hisB in Escherichia coli and HIS3 in Saccharomyces cerevisiae) will survive on these media.
Joung, J. K., E. I. Ramm and C. O. Pabo (2000). "A bacterial two-hybrid selection system for studying protein-DNA and protein-protein interactions." Proc Natl Acad Sci U S A 97(13): 7382-7.
6.83
6 votes
11
Homeobox A11
- Chromosome: Chromosome 7 (human)
- Locus: 7 - [27187300,27191359]
- Genome: Human genome
Homeobox protein Hox-A11 is a protein that in humans is encoded by the HOXA11 gene.
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is involved in the regulation of uterine development and is required for female fertility. Mutations in this gene can cause radio-ulnar synostosis with amegakaryocytic thrombocytopenia.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
6.67
6 votes
12
Oct-4
Oct-4 (octamer-binding transcription factor 4) also known as POU5F1 (POU domain, class 5, transcription factor 1) is a protein that in humans is encoded by the POU5F1 gene. Oct-4 is a homeodomain transcription factor of the POU family. This protein is critically involved in the self-renewal of undifferentiated embryonic stem cells. As such, it is frequently used as a marker for undifferentiated cells. Oct-4 expression must be closely regulated; too much or too little will cause differentiation of the cells.
Oct-4 transcription factor is initially active as a maternal factor in the oocyte but remains active in embryos throughout the preimplantation period. Oct-4 expression is associated with an undifferentiated phenotype and tumors. Gene knockdown of Oct-4 promotes differentiation, thereby demonstrating a role for these factors in human embryonic stem cell self-renewal. Oct-4 can form a heterodimer with Sox2, so that these two proteins bind DNA together.
Mouse embryos that are Oct-4-deficient or have low expression levels of Oct-4 fail to form the inner cell mass, lose pluripotency and differentiate into trophectoderm. Therefore, the level of Oct-4 expression in mice is vital for
7.60
5 votes
13
Pearl gene
The Pearl gene, also known as the "Barlink factor," is a dilution gene that somewhat resembles the cream gene and the champagne gene, but is neither. It is a somewhat rare dilution gene found in the American Quarter Horse, American Paint Horse, and Peruvian Paso. The same mutation appears in Iberian horse breeds such as the Lusitano, Andalusian. The existence of the pearl gene in Quarter Horses and Paints is probably because these breeds have some Iberian ancestors.
It is a recessive gene. If there is only one copy of the gene, it has no effect on black, bay or chestnut horses. If there are two copies, it lightens red coats to a pale, uniform apricot color that includes body, mane and tail and creates pale skin. Because of this effect, when research was underway to locate the specific gene involved, it was at one time referred to as the "apricot" gene.
The Pearl gene is also known to interact with the cream gene to enhance its effects and, in horses with only one copy of the cream allele, to create "pseudo-double dilutes" sometimes called pseudo-cremellos or pseudo-smoky cream. A pseudo-double dilute will often have pale skin and blue or green eyes. Unlike the double cream dilute
7.60
5 votes
14
Homeobox A10
- Chromosome: Chromosome 7 (human)
- Locus: 7 - [27176734,27186367]
- Genome: Human genome
Homeobox protein Hox-A10 is a protein that in humans is encoded by the HOXA10 gene.
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor that may regulate gene expression, morphogenesis, and differentiation. More specifically, it may function in fertility, embryo viability, and regulation of hematopoietic lineage commitment. Alternatively spliced transcript variants encoding different isoforms have been described.
Homeobox A10 has been shown to interact with PTPN6.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
8.75
4 votes
15
60S ribosomal protein L35
60S ribosomal protein L35 is a protein that in humans is encoded by the RPL35 gene.
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L29P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.
7.40
5 votes
16
Homeobox B1
- Chromosome: Chromosome 17 (human)
- Locus: 17 - [43961805,43963270]
- Genome: Human genome
Homeobox protein Hox-B1 is a protein that in humans is encoded by the HOXB1 gene.
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXB genes located in a cluster on chromosome 17.
HOXB1 has been shown to interact with PBX1.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
7.40
5 votes
17
FGF5
Fibroblast growth factor 5 is a protein that in humans is encoded by the FGF5 gene.
The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified as an oncogene, which confers transforming potential when transfected into mammalian cells. Targeted disruption of the homolog of this gene in mouse resulted in the phenotype of abnormally long hair, which suggested a function as an inhibitor of hair elongation. Alternatively spliced transcript variants encoding different isoforms have been identified.
The disruption of FGF5 expression in mammals increases the length of the anagen (growth) phase of the hair cycle, resulting in a phenotype of extremely long hair. This has been shown in many species, including cats, dogs, mice, rabbits, sheep and goats (the so-called angora mutation) and even elephants and mammoths. FGF5 also affects the hair cycle in humans; blocking FGF5 in the human scalp (by applying a
8.50
4 votes
18
PSEN1
- Chromosome: Chromosome 14 (human)
- Locus: 14 + [72672931,72756861]
- Genome: Human genome
Presenilin-1 (PS-1) is a protein that in humans is encoded by the PSEN1 gene. Presenilin 1 is one of the four core proteins in presenilin complex, which mediate the regulated proteolytic events of several proteins in the cell, including gamma secretase. Gama-secretase is considered to play a very important role in generation of beta amyloid, accumulation of which is related to the onset of Alzheimer’s Disease, from the beta-amyloid precursor protein.
Presenilin possesses a 9 transmembrane topology, with an extracellular C-terminus and a cytosolic N-terminus. Presenilin is subject to undergo endo-proteolytic processing to produce ~27-28 kDa N-terminal and ~16-17 kDa C-terminal fragments in humans. Furthermore, presenilin exists in the cell mainly as a heterodimer of the C-terminal and N-terminus fragments. When presenilin 1 is over expressed, the full length protein accumulates in an inactive form. Based on evidence that a gama-secretase inhibitor binds to the fragments, the cleaved presenilin complex is considered to be the active form.
Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or the amyloid
8.50
4 votes
20
4-aminobutyrate aminotransferase
- Chromosome: Chromosome 16 (human)
- Locus: 16 + [8675945,8785932]
- Genome: Human genome
7.20
5 votes
21
Homeobox C5
- Chromosome: Chromosome 12 (human)
- Locus: 12 + [52696908,52715411]
- Genome: Human genome
Homeobox protein Hox-C5 is a protein that in humans is encoded by the HOXC5 gene.
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC5, is one of several homeobox HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Two alternatively spliced variants have been described for HOXC5. The transcript variant which includes the shared exon apparently doesn't encode a protein. The protein-coding transcript variant contains gene-specific exons only.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
7.20
5 votes
22
HSP90AA1
- Chromosome: Chromosome 14 (human)
- Locus: Locus for Human Cytogenetic Band 14q32.33
- Genome: Human genome
Heat shock protein HSP 90-alpha is a protein that in humans is encoded by the HSP90AA1 gene.
Heat shock protein 90kDa alpha (cytosolic), member A1 has been shown to interact with TGF beta receptor 2, FKBP5, TGF beta receptor 1, Glucocorticoid receptor, AKT1, Hop, Peroxisome proliferator-activated receptor alpha, AHSA1, HSF1, STK11, C-Raf, ERN1, PIM1, GNA12, Endothelial NOS, Androgen receptor, CDC37, DAP3, SMYD3, Telomerase reverse transcriptase, HER2/neu, EPRS, P53, Estrogen receptor alpha and GUCY1B3.
8.25
4 votes
23
PSG3
Pregnancy-specific beta-1-glycoprotein 3 is a protein that in humans is encoded by the PSG3 gene.
8.25
4 votes
24
V-erbA-related gene
V-erbA-related protein 2 (EAR-2) also known as NR2F6 (nuclear receptor subfamily 2 group F member 6) is a protein that in humans is encoded by the NR2F6 gene. V-erbA-related protein 2 is a member of the nuclear receptor family of intracellular transcription factors.
Comparatively little is known about ear-2, but is has been shown to function as a coregulator of other nuclear receptors.
Nr2f6 knockout mice show defects in development of the locus ceruleus.
V-erbA-related gene has been shown to interact with:
7.00
5 votes
25
Alpha-1D adrenergic receptor
The alpha-1D adrenergic receptor (α1D adrenoreceptor), also known as ADRA1D, is an alpha-1 adrenergic receptor, and also denotes the human gene encoding it.
There are 3 alpha-1 adrenergic receptor subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. They activate mitogenic responses and regulate growth and proliferation of many cells.
This gene encodes alpha-1D-adrenergic receptor. Similar to alpha-1B-adrenergic receptor gene, this gene comprises 2 exons and a single intron that interrupts the coding region.
8.00
4 votes
26
BOC
Brother of CDO is a protein that in humans is encoded by the BOC gene.
CDON (MIM 608707) and BOC are cell surface receptors of the immunoglobulin (Ig)/fibronectin type III (FNIII; see MIM 135600) repeat family involved in myogenic differentiation. CDON and BOC are coexpressed during development, form complexes with each other in a cis fashion, and are related to each other in their ectodomains, but each has a unique long cytoplasmic tail.[supplied by OMIM]
BOC (gene) has been shown to interact with CDON.
8.00
4 votes
27
Msh homeobox 1
- Chromosome: Chromosome 4 (human)
- Locus: 4 + [4912299,4916563]
- Genome: Human genome
This gene is involved in transcriptional repression and embryogenesis.
8.00
4 votes
28
Acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain
- Chromosome: Chromosome 12 (human)
- Locus: 12 + [119648049,119662192]
- Genome: Human genome
7.75
4 votes
29
MN gene
The MN blood group in humans is under the control of a pair of co-dominant alleles, L and L. Most people in the Eskimo population are M/M, while this genotype is rare among Aborigines. In fact, they tend to possess the opposite genotype (N/N).
The MN blood group system is under the control of an autosomal locus found on chromosome 4 out of 23, with two alleles designated LM and LN. The blood type is due to a glycoprotein present on the surface of red blood cells, which behaves as a native antigen. Phenotypic expression at this locus is codominant because an individual may exhibit either one or both antigenic substances. Frequencies of the two alleles vary widely among human populations.
7.75
4 votes
30
Homeobox C11
- Chromosome: Chromosome 12 (human)
- Locus: 12 + [52653176,52656469]
- Genome: Human genome
Homeobox protein Hox-C11 is a protein that in humans is encoded by the HOXC11 gene.
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene binds to a promoter element of the lactase-phlorizin hydrolase. It also may play a role in early intestinal development. An alternatively spliced variant encoding a shorter isoform has been described but its full-length nature has not been determined.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
6.60
5 votes
31
N-acetyltransferase 1 (arylamine N-acetyltransferase)
- Chromosome: Chromosome 8 (human)
- Locus: 8 + [18111894,18125099]
- Genome: Human genome
6.60
5 votes
32
RrsD
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b3278
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
16S rRNA (E.coli)
5.67
6 votes
33
Deafness, autosomal dominant 5
- Chromosome: Chromosome 7 (human)
- Locus: 7 - [24704499,24763887]
- Genome: Human genome
Non-syndromic hearing impairment protein 5 is a protein that in humans is encoded by the DFNA5 gene.
Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene.
7.50
4 votes
34
HOXB2
- Chromosome: Chromosome 17 (human)
- Locus: 17 - [43975015,43977391]
- Genome: Human genome
Homeobox protein Hox-B2 is a protein that in humans is encoded by the HOXB2 gene.
This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with pancreatic cancer.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
7.50
4 votes
35
MicroRNA
- Genome: Human genome
microRNA (miRNA) are single-stranded RNA molecules (21-23 nucleotides in length) that regulate gene expression. Regulation is accomplished though annealing of the miRNA to the target strand to block protein translation, although in some cases this initiates mRNA degradation through a process similar to RNA interference (RNAi). miRNA often regulate multiple genes and are thus thought to be able to regulate gene systems. In addition, dysregulation of miRNA has been implicated in diseass, such as cancer and heart disease.
7.50
4 votes
36
Piwi
The piwi (sometimes also PIWI; originally P-element induced wimpy testis in Drosophila) class of genes was originally identified as encoding regulatory proteins responsible for maintaining incomplete differentiation in stem cells and maintaining the stability of cell division rates in germ line cells. Piwi proteins are highly conserved across evolutionary lineages and are present in both plants and animals. One of the major human homologues, whose upregulation is implicated in the formation of tumours such as seminomas, is called hiwi; other variants on the theme include the miwi protein in mice.
The piwi domain is a protein domain found in piwi proteins and a large number of related nucleic acid-binding proteins, especially those that bind and cleave RNA. The function of the domain is double stranded-RNA-guided hydrolysis of single stranded-RNA that has been determined in the argonaute family of related proteins. Argonautes, the most well-studied family of nucleic-acid binding proteins, are RNase H-like enzymes that carry out the catalytic functions of the RNA-induced silencing complex (RISC). In the well-known cellular process of RNA interference, the argonaute protein in the
7.50
4 votes
38
Keratin 17
Keratin, type I cytoskeletal 17 is a protein that in humans is encoded by the KRT17 gene.
Keratin 17 is a type I cytokeratin. It is found in nail beds, hair follicles, sebaceous glands, and other epidermal appendages. Mutations in the gene encoding this protein lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex.
Keratin 17 has been shown to interact with CCDC85B.
8.67
3 votes
39
PARK7
- Chromosome: Chromosome 1 (human)
- Locus: 1 + [7944379,7967925]
- Genome: Human genome
Parkinson disease (autosomal recessive, early onset) 7, also known as PARK7, is a protein which in humans is encoded by the PARK7 gene. It is also known as DJ-1.
PARK7 belongs to the peptidase C56 family of proteins. It acts as a positive regulator of androgen receptor-dependent transcription. It may also function as a redox-sensitive chaperone, as a sensor for oxidative stress, and it apparently protects neurons against oxidative stress and cell death.
Defects in this gene are the cause of autosomal recessive early-onset Parkinson's disease 7.
PARK7 has been shown to interact with EFCAB6 and Protein inhibitor of activated STAT2.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
10.00
2 votes
40
ATP-binding cassette, sub-family A (ABC1), member 1
- Chromosome: Chromosome 9 (human)
- Locus: 9 - [106583103,106730256]
- Genome: Human genome
6.40
5 votes
41
Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4
- Chromosome: Chromosome 14 (human)
- Locus: 14 + [94097535,94105995]
- Genome: Human genome
Kallistatin is a protein that in humans is encoded by the SERPINA4 gene.
6.40
5 votes
42
Alkylglycerone phosphate synthase
- Chromosome: Chromosome 2 (human)
- Locus: 2 + [177965730,178112410]
- Genome: Human genome
Alkylglycerone phosphate synthase is an enzyme associated with Type 3 Rhizomelic chondrodysplasia punctata.
7.25
4 votes
43
Homeobox C8
- Chromosome: Chromosome 12 (human)
- Locus: 12 + [52689156,52692813]
- Genome: Human genome
Homeobox protein Hox-C8 is a protein that in humans is encoded by the HOXC8 gene.
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the regulation of cartilage differentiation. It could also be involved in chondrodysplasias or other cartilage disorders.
HOXC8 has been shown to interact with Mothers against decapentaplegic homolog 6 and Mothers against decapentaplegic homolog 1.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
7.25
4 votes
44
PTPN11
Tyrosine-protein phosphatase non-receptor type 11 (PTPN11) also known as protein-tyrosine phosphatase 1D (PTP-1D) or protein-tyrosine phosphatase 2C (PTP-2C) is an enzyme that in humans is encoded by the PTPN11 gene. PTPN11 is a protein tyrosine phosphatase (PTP) Shp2.
PTPN11 is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia.
This phosphatase, along with its paralogue, Shp1, possesses a domain structure that consists of two tandem SH2 domains in its N-terminus followed by a protein tyrosine phosphatase
7.25
4 votes
45
DnaK
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0014
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
chaperone Hsp70, co-chaperone with dnaJ
8.33
3 votes
46
Homeobox C4
- Chromosome: Chromosome 12 (human)
- Locus: 12 + [52696908,52736080]
- Genome: Human genome
Homeobox protein Hox-C4 is a protein that in humans is encoded by the HOXC4 gene.
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC4, is one of several homeobox HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Two alternatively spliced variants that encode the same protein have been described for HOXC4. Transcript variant one includes the shared exon, and transcript variant two includes only gene-specific exons.
HOXC4 has been shown to interact with Ku70.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
8.33
3 votes
47
Gene cassette
A gene cassette is broadly a modular DNA sequence encoding one or more genes for a single biochemical function.
In genetic engineering, a gene cassette refers to a manipulable fragment of DNA carrying, and capable of expressing, one or more genes of interest between one or more sets of restriction sites. It can be transferred from one DNA sequence (usually on a vector) to another by 'cutting' the fragment out using restriction enzymes and 'pasting' it back into the new context.
Integrons are genetic structures in bacteria which express and are capable of acquiring and exchanging 'gene cassettes'. These cassettes typically carry a single gene without a promoter. The entire series of cassettes is transcribed from an adjacent promoter. The gene cassettes are speculated to be inserted and excised via a circular intermediate. This would involve recombination between short sequences found at their termini and known as 59 base elements (59-be) - which may not be 59 bases long. The 59-be are a diverse family of sequences that function as recognition sites for the site-specific integrase (enzyme responsible for integrating the gene cassette into an integron).
Gene cassettes often carry
6.20
5 votes
48
Prostaglandin D2 receptor
Prostaglandin D2 receptor (DP1) is a G-protein coupled receptor, encoded by the PTGDR gene, for prostaglandin D2.
DP1 is a G-protein-coupled receptor. Its activity is mainly mediated by G-S proteins that stimulate adenylate cyclase resulting in an elevation of intracellular cAMP and Ca.
Knockout studies in mice suggest that the ligand of this receptor, prostaglandin D2 (PGD2), functions as a mast cell-derived mediator to trigger asthmatic responses. It also causes vasodilation
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
9.50
2 votes
49
A kinase (PRKA) anchor protein 13
- Chromosome: Chromosome 15 (human)
- Locus: 15 + [83724874,84093589]
- Genome: Human genome
A-kinase anchor protein 13 is an enzyme that in humans is encoded by the AKAP13 gene.
The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in at least 3 transcript variants encoding different isoforms containing a dbl oncogene homology (DH) domain and a pleckstrin homology (PH) domain. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway and, in addition, function as protein kinase A-anchoring proteins.
AKAP13 has been shown to interact with Estrogen receptor alpha, CTNNAL1 and PRKAR2A.
7.00
4 votes
50
FtsQ
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0093
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
Divisome assembly protein, membrane anchored protein involved in growth of wall at septum
7.00
4 votes
51
HOXA4
- Chromosome: Chromosome 7 (human)
- Locus: 7 - [27134534,27136923]
- Genome: Human genome
Homeobox A4, also known as HOXA4, is a protein which in humans is encoded by the HOXA4 gene.
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
7.00
4 votes
52
Insulin gene
The insulin gene (abbreviated INS) is the gene coding for the hormone insulin.
It is mainly expressed in beta-cells in the pancreas, but also in the yolk sac, CNS, other endocrine cells in the pancreas and gastrointestinal tract and in the thymus. In humans, the gene is situated to the region 11p15.
The insulin gene encodes the mRNA for pre-proinsulin. After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into two chains (peptide A and peptide B) that are covalently linked via two disulfide bonds. Binding of this mature form of insulin to the insulin receptor (INSR) stimulates glucose uptake.
A variety of mutant alleles with changes in the coding region have been identified. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region.
There are several regulatory sequences in the promoter region of the human insulin gene, to which transcription factors bind.
In general, the A-boxes bind to Pdx1 factors, E-boxes bind to NeuroD, C-boxes bind to MafA and cAMP response elements to CREB.
There are also silencers that inhibit transcription.
Glucose has both stimulatory and inhibitory
7.00
4 votes
54
Orthodenticle homeobox 2
- Chromosome: Chromosome 14 (human)
- Locus: 14 - [56337177,56346936]
- Genome: Human genome
Homeobox protein OTX2 is a protein that in humans is encoded by the OTX2 gene.
This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. A similar protein in mice is required for proper forebrain development. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants may exist, but their full length sequences have not been determined.
Mutations in OTX2 can cause eye disorders including anophthalmia and microphthalmia.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
6.00
5 votes
55
Acetyl-Coenzyme A carboxylase beta
- Chromosome: Chromosome 12 (human)
- Locus: 12 + [108061593,108190413]
- Genome: Human genome
8.00
3 votes
56
Amiloride binding protein 1 (amine oxidase (copper-containing))
- Chromosome: Chromosome 7 (human)
- Locus: 7 + [150180505,150189311]
- Genome: Human genome
8.00
3 votes
57
Cbl gene
Cbl (named after Casitas B-lineage Lymphoma) is a mammalian gene encoding the protein CBL which is an E3 ubiquitin-protein ligase involved in cell signalling and protein ubiquitination. Mutations to this gene have been implication in a number of human cancers, particularly acute myeloid leukaemia.
In 1989 a virally encoded portion of the chromosomal mouse Cbl gene was the first member of the Cbl family to be discovered and was named v-Cbl to distinguish it from normal mouse c-Cbl. The virus used in the experiment was a retrovirus known as Cas-Br-M, and was found to have excised approximately a third of the original c-Cbl gene from mice it was injected into. Sequencing revealed that the portion carried by the retrovirus encoded a tyrosine kinase binding domain, and that this was the oncogenic form as retroviruses carrying full-length c-Cbl did not induce tumour formation. The resultant transformed retrovirus was found to consistently induce a type of pre-B lymphoma, known as Casitas B-lineage lymphoma, in infected mice.
Full length c-Cbl has been found to consist of several regions encoding for functionally distinct protein domains:
This domain structure and the tyrosine and
8.00
3 votes
58
Fis
fis is the E. coli gene encoding FIS protein. The regulation of this gene is more complex than most other genes in the E. coli genome, as FIS is an important protein which regulates expression of other genes. It is supposed that fis is regulated by H-NS, IHF (protein) and CRP. It also regulates its own expression (autoregulation).
FIS buffers decrease of negative supercoiling in tyrT and rrnA expression. The upstream FIS binding site of rrnA is required for this and it's probable that FIS enables local DNA curvature. See Travers and Muskhelishvili 2005 for more detail.
8.00
3 votes
59
FolA
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0048
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
dihydrofolate reductase protein-coding
8.00
3 votes
60
HOXA7
- Chromosome: Chromosome 7 (human)
- Locus: 7 - [27159859,27162820]
- Genome: Human genome
Homeobox protein Hox-A7 is a protein that in humans is encoded by the HOXA7 gene.
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. For example, the encoded protein represses the transcription of differentiation-specific genes during keratinocyte proliferation, but this repression is then overcome by differentiation signals. This gene is highly similar to the antennapedia (Antp) gene of Drosophila.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
8.00
3 votes
61
MT-ND1
- Chromosome: Chromosome MT (human)
- Locus: MT + [3307,4263]
- Genome: Human genome
MT-ND1 is a mitochondrial gene. It is associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes.
8.00
3 votes
62
NEUROD1
Neurogenic differentiation 1 (NeuroD1), also called β2 is a transcription factor of the NeuroD-type. It is encoded by the human gene NEUROD1.
It is a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus.
NEUROD1 has been shown to interact with MAP3K10, MAFA and Cyclin D1.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
8.00
3 votes
63
Nif gene
The nif gene is the gene responsible for the coding of proteins related and associated with the fixation of atmospheric nitrogen into a form of nitrogen available to plants. These genes are found in nitrogen fixing bacteria and cyanobacteria.
Nif genes have both positive and negative regulators. Some of nf genes are: Nif A, D, L,K, F,H S,U,Y,W,Z
The nif genes are genes encoding enzymes involved in the fixation of atmospheric nitrogen. The primary enzyme encoded by the nif genes is the nitrogenase complex which is in charge of converting atmospheric nitrogen- N2 to other nitrogen forms such as ammonia which the plant can use for various purposes. Besides the nitrogenase enzyme, the nif genes also encode a number of regulatory proteins involved in nitrogen fixation. The nif genes are found in both free living nitrogen fixing bacteria and in symbiotic bacteria in various plants. The expression of the nif genes is induced as a response to low concentrations of fixed nitrogen and oxygen concentrations (the low oxygen concentrations are actively maintained in the root environment).
In most plants, activation of nif genes transcription is done by the nitrogen sensitive NifA protein. When
8.00
3 votes
64
Related to receptor tyrosine kinase
The related to receptor tyrosine kinase (RYK) gene encodes the protein Ryk. The protein encoded by this gene is an atypical member of the family of growth factor receptor protein tyrosine kinases, differing from other members at a number of conserved residues in the activation and nucleotide binding domains. This gene product belongs to a subfamily whose members do not appear to be regulated by phosphorylation in the activation segment. It has been suggested that mediation of biological activity by recruitment of a signaling-competent auxiliary protein may occur through an as yet uncharacterized mechanism. Two alternative splice variants have been identified, encoding distinct isoforms.
The gene encoding mouse RYK was first identified in 1992. Subsequently cDNA encoding the RYK protein have been isolated from the following species.
In common with other receptor tyrosine kinase family members, RYK is composed of three domains, an N-terminal domain, an extracellular ligand-binding domain, a transmembrane spanning domain and a C-terminal intracellular domain. However, in contrast to other receptor tyrosine kinases the C-terminal domain of RYK is devoid of detectable kinase activity.
6.75
4 votes
65
SecA
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0098
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
preprotein translocase subunit, ATPase
6.75
4 votes
66
A kinase (PRKA) anchor protein 1
- Chromosome: Chromosome 17 (human)
- Locus: 17 + [52517619,52553607]
- Genome: Human genome
A kinase anchor protein 1, mitochondrial is an enzyme that in humans is encoded by the AKAP1 gene.
The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins that have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to type I and type II regulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent signal transduction pathway and in directing RNA to a specific cellular compartment.
AKAP1 has been shown to interact with MYCBP, C3orf15, PRKAR1A, PRKAR2A and PRKAR1B.
9.00
2 votes
67
ATP-binding cassette, sub-family B (MDR/TAP), member 7
- Chromosome: Chromosome X (human)
- Locus: X - [74189829,74292856]
- Genome: Human genome
9.00
2 votes
68
5-HT1B receptor
5-hydroxytryptamine receptor 1B also known as the 5-HT1B receptor is a protein that in humans is encoded by the HTR1B gene. The 5-HT1B receptor is a 5-HT receptor subtype.
The 5-HT1B receptor acts on the CNS, where it induces presynaptic inhibition and behavioural effects. It also has vascular effects, such as pulmonary vasoconstriction.
Blocking the 5-HT1B receptor decreases the number of osteoblasts, bone mass, and the bone formation rate.
5-HT1B receptors are present in many parts of the human brain. The highest concentrations are found in the basal ganglia, striatum and the frontal cortex. The function of the receptor differs between the areas: in the frontal cortex it is believed to act as a terminal receptor, inhibiting the release of dopamine. In the striatum and the basal ganglia, the 5-HT1B receptor is thought to act as an autoreceptor, inhibiting the release of serotonin.
Knockout mice lacking the 5-HT1B gene have shown an increase of aggression and a higher preference for alcohol.
In humans the protein is coded by the gene HTR1B.
A genetic variant in the promotor region, A-161T, has been examined with respect to personality traits and showed no major effect.
This article
7.67
3 votes
69
ACADL
ACADL is a gene associated with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
7.67
3 votes
70
DnaJ
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0015
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
chaperone Hsp40, co-chaperone with dnaK
7.67
3 votes
71
HAND1
Heart- and neural crest derivatives-expressed protein 1 is a protein that in humans is encoded by the HAND1 gene.
The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins are expressed within the developing ventricular chambers, cardiac neural crest, endocardium (HAND2 only) and epicardium (HAND2 only) . HAND1 is expressed with myocardium of the primary heart field and plays an essential but poorly understood role in cardiac morphogenesis. HAND factors function in the formation of the right ventricle, left ventricle, aortic arch arteries, epicardium, and endocardium implicating them as mediators of congenital heart disease. In addition, HAND1 is uniquely expressed in trophoblasts and is essential for early trophoblast differentiation.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
7.67
3 votes
72
MraY
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0087
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
phospho-N-acetylmuramoyl-pentapeptide transferase
7.67
3 votes
73
MurC
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0091
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
UDP-N-acetylmuramate:L-alanine ligase
7.67
3 votes
74
Adenosine A3 receptor
The adenosine A3 receptor, also known as ADORA3, is an adenosine receptor, but also denotes the human gene encoding it.
Adenosine A3 receptors are G protein-coupled receptors that couple to Gi/Gq and are involved in a variety of intracellular signaling pathways and physiological functions. It mediates a sustained cardioprotective function during cardiac ischemia, it is involved in the inhibition of neutrophil degranulation in neutrophil-mediated tissue injury, it has been implicated in both neuroprotective and neurodegenerative effects, and it may also mediate both cell proliferation and cell death.
Multiple transcript variants encoding different isoforms have been found for this gene.
An adenosine A3 receptor agonist (CF-101) is in clinical trials for the treatment of rheumatoid arthritis. In a mouse model of infarction the A3 selective agonist CP-532,903 protected against myocardial ischemia and reperfusion injury.
A number of selective A3 ligands are available.
10.00
1 votes
76
Alpha-2A adrenergic receptor
The alpha-2A adrenergic receptor (α2A adrenoceptor), also known as ADRA2A, is an alpha-2 adrenergic receptor, and also denotes the human gene encoding it.
Alpha-2-adrenergic receptors include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. Studies in mice revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons; the alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity.
This gene encodes alpha2A subtype and it contains no introns in either its coding or untranslated sequences.
Although the pre-synaptic functions of alpha-2A receptors have been a major focus (see above), the majority of alpha-2 receptors in the brain are actually localized post-synaptic to noradrenergic terminals. Many post-synaptic alpha-2A receptors have important effects on brain function; for
10.00
1 votes
78
FtsI
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0084
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
transpeptidase involved in septal peptidoglycan synthesis (penicillin-binding protein 3)
10.00
1 votes
79
FtsW
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0089
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
Lipid II flippase; integral membrane protein involved in stabilizing FstZ ring during cell division
10.00
1 votes
80
FtsZ
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0095
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
GTP-binding tubulin-like cell division protein protein-coding
10.00
1 votes
81
Homeobox A3
- Chromosome: Chromosome 7 (human)
- Locus: 7 - [27112333,27133163]
- Genome: Human genome
Homeobox protein Hox-A3 is a protein that in humans is encoded by the HOXA3 gene.
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Three transcript variants encoding two different isoforms have been found for this gene.
The HOXA3 gene is repressed by the microRNA miR-10a.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
10.00
1 votes
82
Ubiquitin carboxy-terminal hydrolase L1
Ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) (EC 3.1.2.15) is a deubiquitinating enzyme. UCHL1 is a member of a gene family whose products hydrolyze small C-terminal adducts of ubiquitin to generate the ubiquitin monomer. Expression of UCHL1 is highly specific to neurons and to cells of the diffuse neuroendocrine system and their tumors. It is present in all neurons.
A point mutation (I93M) in the gene encoding this protein is implicated as the cause of Parkinson's disease in one kindred.
Furthermore, a polymorphism (S18Y) in this gene has been found to be associated with a reduced risk for Parkinson's disease.
The gene is also associated with the Alzheimer's disease, and required for normal synaptic and cognitive function.
Human UCH-L1 and the closely related protein UCHL3 have one of the most complicated knot structure yet discovered for a protein, with five knot crossings. It is speculated that a knot structure may increase a protein's resistance to degradation in the proteasome.
Ubiquitin carboxy-terminal hydrolase L1 has been shown to interact with COP9 constitutive photomorphogenic homolog subunit 5.
10.00
1 votes
84
CBX1
- Chromosome: Chromosome 17 (human)
- Locus: 17 - [43502419,43533359]
- Genome: Human genome
Chromobox protein homolog 1 is a protein that in humans is encoded by the CBX1 gene. The protein is localized at heterochromatin sites, where it mediates gene silencing.
Model organisms have been used in the study of CBX1 function. A conditional knockout mouse line, called Cbx1 was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute.
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty two tests were carried out and two phenotypes were reported. No homozygous mutant animals survived until two weeks of age, therefore the remaining tests were carried out on heterozygous mutant mice. Male heterozygotes showed increased VO2, rate of elimination of carbon dioxide, and energy expenditure as determined by indirect calorimetry.
CBX1 has been shown to interact with C11orf30, CBX5, CBX3 and SUV39H1.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
6.50
4 votes
85
CYBB
Cytochrome b-245, beta polypeptide (chronic granulomatous disease)-- also known as CYBB, P91-PHOX, and NOX2-- is a human gene encoding a glycoprotein.
Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole.
6.50
4 votes
86
HOXC9
- Chromosome: Chromosome 12 (human)
- Locus: 12 + [52680143,52683387]
- Genome: Human genome
Homeobox protein Hox-C9 is a protein that in humans is encoded by the HOXC9 gene.
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
6.50
4 votes
87
KefF
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0046
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
potassium-efflux system ancillary protein for KefC, glutathione-regulated; quinone oxidoreductase, FMN-dependent
6.50
4 votes
88
Retron msr RNA
Retron msr RNA is a non-coding RNA produced by retron elements. It is the immediate precursor to the synthesis of a multi-copy extra-chromosomal (satellite) DNA present in many bacteria called multicopy single-stranded DNA (msDNA). The retron msr RNA folds into a characteristic secondary structure that contains a conserved guanosine residue at the end of a stem loop. Synthesis of DNA by a retron-encoded reverse transcriptase (RT) results in a DNA-RNA chimera which is composed of small single-stranded DNA linked to small single-stranded RNA. The RNA strand is joined to the 5' end of the DNA chain via a 2'-5' phosphodiester linkage that occurs from the 2' position of the conserved internal guanosine residue.
Retron elements are about 2 kb long. They contain a single operon controlling the synthesis of an RNA transcript carrying three loci, msr, msd, and ret, that are involved in msDNA synthesis. The DNA portion of msDNA is encoded by the msd gene, the RNA portion is encoded by the msr gene, while the product of the ret gene is a reverse transcriptase similar to the RTs produced by retroviruses and other types of retroelements. Like other reverse transcriptases, the retron RT contains
6.50
4 votes
89
5-HT1D receptor
5-hydroxytryptamine (serotonin) receptor 1D, also known as HTR1D, is a 5-HT receptor, but also denotes the human gene encoding it. 5-HT1D acts on the central nervous system, and affects locomotion and anxiety. It also induces vascular vasoconstriction in the brain.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
8.50
2 votes
91
Alpha-1B adrenergic receptor
The alpha-1B adrenergic receptor (α1B adrenoreceptor), also known as ADRA1B, is an alpha-1 adrenergic receptor, and also denotes the human gene encoding it.
There are 3 alpha-1 adrenergic receptor subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. They activate mitogenic responses and regulate growth and proliferation of many cells.
This gene encodes alpha-1B-adrenergic receptor, which induces neoplastic transformation when transfected into NIH 3T3 fibroblasts and other cell lines. Thus, this normal cellular gene is identified as a protooncogene. This gene comprises 2 exons and a single large intron of at least 20 kb that interrupts the coding region.
Alpha-1B adrenergic receptor has been shown to interact with AP2M1. A role in regulation of dopaminergic neurotransmission has also been suggested.
8.50
2 votes
92
Complement receptor 1
- Chromosome: Chromosome 1 (human)
- Locus: 1 + [205736095,205881732]
- Genome: Human genome
Erythrocyte complement receptor 1 (CR1, also known as CD35, C3b/C4b receptor and immune adherence receptor) is a human gene.
This protein encoded by this gene is a member of the regulators of complement activation (RCA) family and is located in the 'cluster RCA' region of chromosome 1. The gene encodes a monomeric single-pass type I membrane glycoprotein found on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells. The Knops blood group system is a system of antigens located on this protein. The protein mediates cellular binding to particles and immune complexes that have activated complement. Decreases in expression of this protein and/or mutations in its gene have been associated with gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus and sarcoidosis. Mutations in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria. Alternate allele-specific splice variants, encoding different isoforms, have been characterized. Additional allele specific isoforms, including a secreted form, have been described but have not been fully
8.50
2 votes
93
HSP90B1
Heat shock protein 90kDa beta member 1 (HSP90B1), known also as endoplasmin, gp96, grp94 and ERp99, is a chaperone protein that in humans is encoded by the HSP90B1 gene.
HSP90B1 is an HSP90 paralogue that is found in the endoplasmic reticulum. It plays critical roles in folding proteins in the secretory pathway such as Toll-like receptors and integrins. It has been implicated as an essential immune chaperone to regulate both innate and adaptive immunity. Tumor-derived HSP90B1 (vitespen) has entered clinical trials for cancer immunotherapy.
8.50
2 votes
94
NS1 Influenza Protein
The NS1 (non-structural protein 1) is encoded by the NS gene segments of type A, B and C influenza viruses. Also encoded by this segment is the nuclear export protein (NEP), formally referred to as NS2 protein, which mediates the export of influenza virus ribonucleoprotein (RNP) complexes for the cell nucleus where they are assembled.
The NS1 of influenza A virus is a 26,000 Dalton protein. It prevents polyadenylation of cellular mRNAs to circumvent antiviral responses of the host, e.g., maturation and translation of interferon mRNAs. NS1 might also inhibit splicing of pre-mRNA by binding to a stem-bulge region in U6 small nuclear RNA (snRNA). In addition, NS1 is probably able to suppress the interferon response in the virus-infected cell leading to unimpaired virus production.
NS1 also binds dsRNA. Binding assays with NS1 protein mutants established that the RNA-binding domain of the NS1 protein is required for binding to dsRNA as well as for binding to polyA and U6 snRNA. In addition, dsRNA competed with U6 snRNA for binding to the NS1 protein, a result consistent with both RNAs sharing the same binding site on the protein. As a consequence of its binding to dsRNA, the NS1
8.50
2 votes
95
V-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)
- Chromosome: Chromosome 1 (human)
- Locus: 1 - [177343379,177465358]
- Genome: Human genome
8.50
2 votes
96
Arylacetamide deacetylase (esterase)
- Chromosome: Chromosome 3 (human)
- Locus: 3 + [153014550,153028965]
- Genome: Human genome
Arylacetamide deacetylase is an enzyme that in humans is encoded by the AADAC gene.
Microsomal arylacetamide deacetylase competes against the activity of cytosolic arylamine N-acetyltransferase, which catalyzes one of the initial biotransformation pathways for arylamine and heterocyclic amine carcinogens
7.33
3 votes
97
ERCC2 gene
ERCC2, or XPD is a protein involved in transcription-coupled nucleotide excision repair.
The XPD (ERCC2) gene encodes for a 2.3-kb mRNA containing 22 exons and 21 introns. The XPD protein is a 760 amino acids polypeptide with a size of 87kDa. Defects in this gene can result in three different disorders: the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome.
Just like XPB, XPD is also a part of human transcriptional initiation factor TFIIH and has ATP-dependent helicase activity. It belongs to the RAD3/XPD subfamily of helicases.
XPD is essential for the viability of cells. Deletion of XPD in mice is embryonic lethal.
ERCC2 has been shown to interact with GTF2H2, GTF2H1, ERCC5 and XPB.
Click on genes, proteins and metabolites below to link to respective articles.
7.33
3 votes
98
N-acetyltransferase 2 (arylamine N-acetyltransferase)
- Chromosome: Chromosome 8 (human)
- Locus: 8 + [18293034,18302961]
- Genome: Human genome
7.33
3 votes
99
60S ribosomal protein L38
60S ribosomal protein L38 is a protein that in humans is encoded by the RPL38 gene.
The human RPL38 gene resides on the long arm of chromosome 17 at 17q25.1. It consists of five exons spread out over a distance of 6223 bp. The 213 nucleotide open reading frame encodes a 70 amino acid protein. Alternative splice variants have been identified, both encoding the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome, including one located in the promoter region of the angiotensin II receptor type 1 gene.
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L38E family of ribosomal proteins. It is located in the cytoplasm.
An ~18kbp deletion, encompassing the entire Rpl38 locus underlies the phenotype in the Tail-short (Ts) mutant mouse. In homozygous state, Ts mice die at around 3–4 days of gestation. Ts/+ heterozygous
6.25
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100
Myeloproliferative leukemia virus oncogene
Myeloproliferative leukemia virus oncogene (MPL) also known as CD110 (Cluster of Differentiation 110), is a human gene.
In 1990 an oncogene, v-mpl, was identified from the murine myeloproliferative leukemia virus that was capable of immortalizing bone marrow hematopoietic cells from different lineages. In 1992 the human homologue, named, c-mpl, was cloned. Sequence data revealed that c-mpl encoded a protein that was homologous with members of the hematopoietic receptor superfamily. Presence of anti-sense oligodeoxynucleotides of c-mpl inhibited megakaryocyte colony formation. The ligand for c-mpl, thrombopoietin, was cloned in 1994. Thrombopoietin was shown to be the major regulator of megakaryocytopoiesis and platelet formation. The protein encoded by the c-mpl gene, CD110, is a 635 amino acid transmembrane domain, with two extracellular cytokine receptor domains and two intracellular cytokine receptor box motifs . TPO-R deficient mice were severely thrombocytopenic, emphasizing the important role of CD110 and thrombopoietin in megakaryocyte and platelet formation. Upon binding of thrombopoietin CD110 is dimerized and the JAK family of non-receptor tyrosine kinases, as well as the
6.25
4 votes
102
AceE
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0114
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
pyruvate dehydrogenase, decarboxylase component E1, thiamin-binding
7.00
3 votes
103
Adenosine A2a receptor
The adenosine A2A receptor, also known as ADORA2A, is an adenosine receptor, but also denotes the human gene encoding it.
This protein is a member of the G protein-coupled receptor (GPCR) family which possess seven transmembrane alpha helices. The crystallographic structure of the adenosine A2A receptor PDB 3EML (see figure to the right) reveals a ligand binding pocket distinct from that of other structurally determined GPCRs (i.e., the beta-2 adrenergic receptor and rhodopsin).
The actions of the A2A receptor are complicated by the fact that a variety of functional heteromers composed of a mixture of A2A subunits with subunits from other unrelated G-protein coupled receptors have been found in the brain, adding a further degree of complexity to the role of adenosine in modulation of neuronal activity. Hetereomers consisting of adenosine A1/A2A, dopamine D2/A2A and D3/A2A, glutamate mGluR5/A2A and cannabinoid CB1/A2A have all been observed, as well as CB1/A2A/D2 heterotrimers, and the functional significance and endogenous role of these hybrid receptors is still only starting to be unravelled.
The gene encodes a protein which is one of several receptor subtypes for adenosine. The
7.00
3 votes
104
Angio-associated, migratory cell protein
- Chromosome: Chromosome 2 (human)
- Locus: 2 - [218837096,218843136]
- Genome: Human genome
7.00
3 votes
105
AraC
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0064
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
DNA-binding transcriptional dual regulator
7.00
3 votes
107
Homeobox C6
- Chromosome: Chromosome 12 (human)
- Locus: 12 + [52696908,52710873]
- Genome: Human genome
Homeobox protein Hox-C6 is a protein that in humans is encoded by the HOXC6 gene.
This gene belongs to the homeobox family, members of which encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC6, is one of several HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Alternatively spliced transcript variants encoding different isoforms have been identified for HOXC6. Transcript variant two includes the shared exon, and transcript variant one includes only gene-specific exons.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
7.00
3 votes
108
MAF
Transcription factor Maf also known as proto-oncogene c-Maf or V-maf musculoaponeurotic fibrosarcoma oncogene homolog is a transcription factor that in humans is encoded by the MAF gene.
One type, MafA, also known as RIPE3b1, promotes pancreatic development, as well as insulin gene transcription.
MAF has been shown to interact with:
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
7.00
3 votes
109
Hematopoietically expressed homeobox
- Chromosome: Chromosome 10 (human)
- Locus: 10 + [94439679,94445387]
- Genome: Human genome
Hematopoietically-expressed homeobox protein HHEX is a protein that in humans is encoded by the HHEX gene.
This gene encodes a member of the homeobox family of transcription factors, many of which are involved in developmental processes. Expression in specific hematopoietic lineages suggests that this protein may play a role in hematopoietic differentiation.
HHEX has been shown to interact with Promyelocytic leukemia protein.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
6.00
4 votes
110
5-HT2B receptor
5-hydroxytryptamine (serotonin) receptor 2B, also known as HTR2B, is a 5-HT2 receptor, but also denotes the human gene encoding it.
The 5-HT2 receptors (of which the 5-HT2B receptor is a subtype) mediate many of the central and peripheral physiologic functions of serotonin. Cardiovascular effects include contraction of blood vessels and shape changes in platelets; central nervous system effects include neuronal sensitization to tactile stimuli and mediation of some of the effects of phenylisopropylamine hallucinogens.
The 5-HT2B receptor subtype is involved in:
As of 2009, few highly selective 5-HT2B receptor ligands have been discovered, although numerous potent non-selective compounds are known, particularly agents with concomitant 5-HT2C binding. Research in this area has been limited due to the cardiotoxicity of 5HT2B agonists, and the lack of clear therapeutic application for 5HT2B antagonists, but there is still a need for selective ligands for scientific research.
5-HT2B antagonists have previously been proposed as treatment for migraine headaches, and RS-127,445 was trialled in humans up to Phase I for this indication, but development was not continued. More recent research
8.00
2 votes
111
ABCA4
- Chromosome: Chromosome 1 (human)
- Locus: 1 - [94230980,94359266]
- Genome: Human genome
ATP-binding cassette, sub-family A (ABC1), member 4, also known as ABCA4 or ABCR, is a protein which in humans is encoded by the ABCA4 gene.
ABCA4 is a member of the ATP-binding cassette transporter gene sub-family A (ABC1) found exclusively in multicellular eukaryotes. The gene was first cloned and characterized in 1997 as a gene that causes Stargardt disease, an autosomal recessive disease that causes macular degeneration. The ABCA4 gene transcribes a large retina-specific protein with two transmembrane domains (TMD), two glycosylated extracellular domains (ECD), and two nucleotide-binding domains (NBD). The ABCA4 protein is almost exclusively expressed in retina localizing in outer segment disk edges of rod photoreceptors.
Previously known as the photoreceptor rim protein RmP or ABCR, the recently proposed ABCA4 structure consists of two transmembrane domains (TMDs), two large glycosylated extracellular domains (ECD), and two internal nucleotide binding domains (NBDs). One TMD spans across membranes with six units of protein linked together to form a domain. The TMDs are usually not conserved across genomes due to its specificity and diversity in function as channels or
8.00
2 votes
112
Alpha-2B adrenergic receptor
The alpha-2B adrenergic receptor (α2B adrenoceptor), is a G-protein coupled receptor. It is a subtype of the adrenergic receptor family. The human gene encoding this receptor has the symbol ADRA2B. ADRA2B orthologs have been identified in several mammals.
Alpha-2-adrenergic receptors include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system.
This gene encodes the alpha2B subtype, which was observed to associate with eIF-2B, a guanine nucleotide exchange protein that functions in regulation of translation. A polymorphic variant of the alpha2B subtype, which lacks 3 glutamic acids from a glutamic acid repeat element, was identified to have decreased G protein-coupled receptor kinase-mediated phosphorylation and desensitization; this polymorphic form is also associated with reduced basal metabolic rate in obese subjects and may therefore contribute to the pathogenesis of obesity. This gene contains no introns in either its coding or untranslated sequences.
A deletion variant of the alpha-2B adrenergic receptor has been
8.00
2 votes
113
CarB
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0033
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
carbamoyl-phosphate synthase large subunit
8.00
2 votes
114
CBX3
- Chromosome: Chromosome 7 (human)
- Locus: 7 + [26207623,26219500]
- Genome: Human genome
Chromobox protein homolog 3 is a protein that in humans is encoded by the CBX3 gene.
At the nuclear envelope, the nuclear lamina and heterochromatin are adjacent to the inner nuclear membrane. The protein encoded by this gene binds DNA and is a component of heterochromatin. This protein also can bind lamin B receptor, an integral membrane protein found in the inner nuclear membrane. The dual binding functions of the encoded protein may explain the association of heterochromatin with the inner nuclear membrane. Two transcript variants encoding the same protein but differing in the 5' UTR, have been found for this gene.
CBX3 has been shown to interact with PIM1, Ki-67, Lamin B receptor, CBX5 and CBX1.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
8.00
2 votes
115
ERP29
Endoplasmic reticulum protein 29 (ERp29) is a chaperone protein that in humans is encoded by the ERP29 gene.
ERp29 is a reticuloplasmin, a protein which resides in the lumen of the endoplasmic reticulum (ER). The protein shows sequence similarity to the protein disulfide-isomerase family. However, it lacks the thioredoxin motif characteristic of this family, suggesting that this protein does not function as a disulfide isomerase. The protein dimerizes and is thought to play a role in the processing of secretory proteins within the ER. Alternative splicing results in multiple transcript variants encoding different isoforms.
8.00
2 votes
116
Lpd
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0116
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
lipoamide dehydrogenase, E3 component is part of three enzyme complexes
8.00
2 votes
117
MurE
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0085
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
UDP-N-acetylmuramoyl-L-alanyl-D-glutamate:meso-diaminopimelate ligase
8.00
2 votes
118
Peroxisome proliferator-activated receptor alpha
- Chromosome: Chromosome 22 (human)
- Locus: 22 + [44925162,45018316]
- Genome: Human genome
Peroxisome proliferator-activated receptor alpha (PPAR-alpha), also known as NR1C1 (nuclear receptor subfamily 1, group C, member 1), is a nuclear receptor protein that in humans is encoded by the PPARA gene.
PPAR-alpha is a transcription factor and a major regulator of lipid metabolism in the liver. PPAR-alpha is activated under nutrient-deficient conditions and is necessary for the process of ketogenesis, a key adaptive response to prolonged fasting . Activation of PPAR-alpha promotes uptake, utilization, and catabolism of fatty acids by upregulation of genes involved in fatty acid transport and peroxisomal and mitochondrial fatty acid β-oxidation. PPAR-alpha is primarily activated through ligand binding. Synthetic ligands include the fibrate drugs, which are used to treat hyperlipidemia. An endogenous ligand has been identified as the phosphatidylcholine species 1-palmitoyl-2-oleoyl-sn-glycerol-3-phosphocholine . Endogenous activation of PPAR-alpha is dependent on the presence of fatty acid synthase.
Peroxisome proliferator-activated receptor alpha has been shown to interact with:
This article incorporates text from the United States National Library of Medicine, which is in the
8.00
2 votes
119
Carcinoembryonic antigen-related cell adhesion molecule 20
- Genome: Human genome
CEACAM20 is a gene which encodes carcinoembryonic antigen.
9.00
1 votes
120
EZH1
- Chromosome: Chromosome 17 (human)
- Locus: 17 - [38105818,38150573]
- Genome: Human genome
Histone-lysine N-methyltransferase EZH1 is an enzyme that in humans is encoded by the EZH1 gene.
In mice, EZH1 and EZH2 cogovern histone H3K27 trimethylation and are essential for hair follicle homeostasis and wound repair. EZH1 also complements EZH2 in maintaining stem cell identity and executing pluripotency.
9.00
1 votes
121
HFE gene
Human hemochromatosis protein also known as the HFE protein is a protein which in humans is encoded by the HFE gene. The HFE gene is located on short arm of chromosome 6 at location 6p21.3. Unusually, the official gene symbol (HFE for High Iron Fe) is not an abbreviation of the official name (hemochromatosis).
The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta-2 microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin.
The iron storage disorder, hereditary hemochromatosis,(HHC) is an autosomal recessive genetic disorder that usually results from defects in this gene.
The mutation or polymorphism most commonly associated with hemochromatosis is p. C282Y. About 1/200 of people of Northern European origin have two copies of this variant; they, particularly males are at high risk of developing hemochromatosis.
The HFE protein has been shown to interact with TFRC. Its primary mode of action is then through regulation of the iron storage hormone hepcidin.
9.00
1 votes
122
LeuD
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0071
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
3-isopropylmalate dehydratase small subunit
9.00
1 votes
123
NADH-Q
NADH-Q is the name of a set of genes encoding NADH-coenzyme Q oxidoreductase (NADH-CoQ reductase) proteins. In the human mitochondrial genome, genes 1 through 6, as well as 4L, have been identified.
9.00
1 votes
124
TmRNA
Transfer-messenger RNA (abbreviated tmRNA, also known as 10Sa RNA and by its genetic name SsrA) is a bacterial RNA molecule with dual tRNA-like and messenger RNA-like properties. The tmRNA forms a ribonucleoprotein complex (tmRNP) together with Small Protein B (SmpB), Elongation Factor Tu (EF-Tu), and ribosomal protein S1. In trans-translation, tmRNA and its associated proteins bind to bacterial ribosomes which have stalled in the middle of protein biosynthesis, for example when reaching the end of a messenger RNA which has lost its stop codon. The tmRNA is remarkably versatile: it recycles the stalled ribosome, adds a proteolysis-inducing tag to the unfinished polypeptide, and facilitates the degradation of the aberrant messenger RNA. In the majority of bacteria these functions are carried out by standard one-piece tmRNAs. In other bacterial species, a permuted ssrA gene produces a two-piece tmRNA in which two separate RNA chains are joined by base-pairing.
tmRNA was first designated 10Sa RNA after a mixed “10S” electrophoretic fraction of Escherichia coli RNA was further resolved into tmRNA and the similarly-sized RNase P RNA (10Sb). The presence of pseudouridine in the mixed 10S
9.00
1 votes
125
ATP-binding cassette, sub-family A (ABC1), member 2
- Chromosome: Chromosome 9 (human)
- Locus: 9 - [139021506,139043194]
- Genome: Human genome
6.67
3 votes
126
Beta-3 adrenergic receptor
The beta-3 adrenergic receptor (β3 adrenoreceptor), also known as ADRB3, is an beta-adrenergic receptor, and also denotes the human gene encoding it.
Actions of the β3 receptor include:
It is located mainly in adipose tissue and is involved in the regulation of lipolysis and thermogenesis. Some β3 agonists have demonstrated antistress effects in animal studies, suggesting it also has a role in the CNS. Beta3-Receptors are found in the gallbladder, urinary bladder, and in brown adipose tissue. Their role in gallbladder physiology is unknown, but they are thought to play a role in lipolysis and thermogenesis in brown fat. In the urinary bladder it is thought to cause relaxation of the bladder and prevention of urination.
Beta adrenergic receptors are involved in the epinephrine- and norepinephrine-induced activation of adenylate cyclase through the action of the G proteins of the type Gs.
A selective β3 agonist has potential weight loss effects through modulation of lipolysis.
Beta-3 adrenergic receptor has been shown to interact with Src.
6.67
3 votes
127
Keratin 12
Keratin 12 is a protein that in humans is encoded by the KRT12 gene.
Keratin 12 is keratin found expressed in corneal epithelia. Mutations in the gene encoding this protein lead to Meesmann corneal dystrophy.
6.67
3 votes
128
Keratin 19
Keratin, type I cytoskeletal 19 also known as cytokeratin-19 (CK-19) or keratin-19 (K19) is a protein that in humans is encoded by the KRT19 gene. Keratin 19 is a type I keratin.
Keratin 19 is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins.
Keratin 19 is a type I keratin. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. Unlike its related family members, this smallest known acidic cytokeratin is not paired with a basic cytokeratin in epithelial cells. It is specifically found in the periderm, the transiently superficial layer that envelops the developing epidermis. The type I cytokeratins are clustered in a region of chromosome 17q12-q21.
Due to its high sensitivity, KRT19 is the most used marker for the RT-PCR-mediated detection of tumor cells disseminated in lymph nodes, peripheral blood, and bone marrow of breast cancer patients. Depending on the assays, KRT19 has been shown to be both a specific and a non-specific marker. False positivity in such KRT19 RT-PCR studies
6.67
3 votes
129
Oculocutaneous albinism II (pink-eye dilution homolog, mouse)
- Chromosome: Chromosome 15 (human)
- Locus: 15 - [25673627,26018060]
- Genome: Human genome
P protein is a protein that, in humans, is encoded by the OCA2 gene. OCA2 encodes the human homologue of the mouse p (pink-eyed dilution) gene. The P protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine - a precursor of melanin. Certain mutations in OCA2 result in type 2 oculocutaneous albinism.
A mutation in the HERC2 gene adjacent to OCA2, affecting OCA2's expression in the human iris, is found common to nearly all people with blue eyes. It has been hypothesized that all blue eyed humans share a single common ancestor with whom the mutation originated.
A 2010 study found the His615Arg allele of OCA2 is involved in the light skin tone in people of East Asian descent.
6.67
3 votes
130
Phosphate-regulating endopeptidase gene
Phosphate-regulating endopeptidase gene or PHEX is a gene identified in 1995. It contains 18 exons and is located on the X chromosome. Mutation of PHEX leads to X-linked dominant hypophosphatemic rickets.
6.67
3 votes
131
LIM domain kinase 1
- Chromosome: Chromosome 7 (human)
- Locus: 7 + [73136091,73174789]
- Genome: Human genome
LIM domain kinase 1 is an enzyme that in humans is encoded by the LIMK1 gene.
There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. LIMK1 is likely to be a component of an intracellular signaling pathway and may be involved in brain development. LIMK1 hemizygosity is implicated in the impaired visuospatial constructive cognition of Williams syndrome.
LIMK1 has been shown to interact with PAK1, YWHAZ, PAK4, Cofilin 1, Neuregulin 1 and Cyclin-dependent kinase inhibitor 1C.
5.75
4 votes
132
AraB
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0063
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
L-ribulokinase
7.50
2 votes
133
Homeobox B6
- Chromosome: Chromosome 17 (human)
- Locus: 17 - [44028097,44037332]
- Genome: Human genome
Homeobox protein Hox-B6 is a protein that in humans is encoded by the HOXB6 gene.
This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development, including that of lung and skin, and has been localized to both the nucleus and cytoplasm. Altered expression of this gene or a change in the subcellular localization of its protein is associated with some cases of acute myeloid leukemia and colorectal cancer.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
7.50
2 votes
134
LeuB
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0073
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
3-isopropylmalate dehydrogenase, NAD(+)-dependent
7.50
2 votes
135
RluA
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0058
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
pseudouridine synthase for 23S rRNA (position 746) and tRNAphe(position 32)
7.50
2 votes
136
RrsA
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b3851
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
16S ribosomal RNA
7.50
2 votes
137
AcnB
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0118
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
bifunctional aconitate hydratase 2/2-methylisocitrate dehydratase
5.50
4 votes
138
Active BCR-related gene
- Chromosome: Chromosome 17 (human)
- Locus: 17 - [853508,1029880]
- Genome: Human genome
5.50
4 votes
139
5-HT1E receptor
5-hydroxytryptamine (serotonin) 1E receptor (5-HT1E) is a highly expressed human G-protein coupled receptor that belongs to the 5-HT1 receptor family (Gi-coupled serotonin receptor). The human gene is denoted as HTR1E.
The function of the 5-HT1E receptor is unknown due to the lack of selective pharmacological tools, specific antibodies, and permissive animal models. The 5-HT1E receptor gene lacks polymorphisms amongst humans (few mutations), indicating a high degree of evolutionary conservation of genetic sequence, which suggests that the 5-HT1E receptor has an important physiological role in humans. It is hypothesized that the 5-HT1E receptor is involved in the regulation of memory in humans due to the high abundance of receptors in the frontal cortex, hippocampus, and olfactory bulb, all of which are regions of the brain integral to memory regulation.
This receptor is unique among the serotonin receptors in that it is not known to be expressed by any rodent species, all of which lack the gene encoding the 5-HT1E receptor. However the genomes of the pig, rhesus monkey, and several lagomorphs (including the guinea pig and rabbit) each encode a homologous 5-HT1E receptor gene. The
6.33
3 votes
140
AAAS
- Genome: Human genome
Aladin also known as adracalin is a protein that in humans is encoded by the AAAS gene [achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)].
Aladin is a component of the nuclear pore complex.
Mutations in the AAAS gene are responsible for Triple A syndrome (also known as Allgrove Syndrome).
6.33
3 votes
141
ATP-binding cassette, sub-family A (ABC1), member 3
- Chromosome: Chromosome 16 (human)
- Locus: 16 - [2265882,2330594]
- Genome: Human genome
6.33
3 votes
143
HOXC10
- Chromosome: Chromosome 12 (human)
- Locus: 12 + [52665212,52670329]
- Genome: Human genome
Homeobox protein Hox-C10 is a protein that in humans is encoded by the HOXC10 gene.
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The protein level is controlled during cell differentiation and proliferation, which may indicate this protein has a role in origin activation.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
6.33
3 votes
144
KAL1 gene
The KAL1 gene is a human gene which is located on the X chromosome at Xp22.3 and is affected in some individuals with Kallmann syndrome. This gene codes for a protein named anosmin-1, which is responsible for migration of certain nerve cell precursors during embryogenesis. Deletion or mutation of this gene results in loss of the functional protein and affects the proper development of the olfactory system. In addition, neural cells which produce GnRH fail to incorporate into the hypothalamus.
Clinically, mutation results in the X-linked form of Kallmann syndrome. Individuals with Kallmann syndrome experience anosmia (lack of smell) and do not go through puberty (hypothalamic hypogonadotropic hypogonadism).
The KAL1 gene is made of 14 exons and spans 120-200 kilobases. Mutation in the gene is responsible for 14% of the cases of familial Kallmann syndrome and 11% of cases of sporadic cases.
6.33
3 votes
145
MtmB1
- Genome: Methanosarcina barkeri genome
A methyltransferase gene in the Methanosarcina barkeri genome.
6.33
3 votes
146
SRI
- Chromosome: Chromosome 7 (human)
- Locus: 7 - [87672367,87694243]
- Genome: Human genome
Sorcin is a protein that in humans is encoded by the SRI gene.
SRI (gene) has been shown to interact with Ryanodine receptor 2, ANXA7 and GCA.
6.33
3 votes
147
Acyl-Coenzyme A dehydrogenase, short/branched chain
- Chromosome: Chromosome 10 (human)
- Locus: 10 + [124758523,124807795]
- Genome: Human genome
8.00
1 votes
148
Beta-actin
- Chromosome: Chromosome 7 (human)
- Locus: 7 - [5533311,5536746]
- Genome: Human genome
Beta-actin (gene name ACTB) is one of six different actin isoforms which have been identified in humans. This is one of the two nonmuscle cytoskeletal actins. Actins are highly conserved proteins that are involved in cell motility, structure and integrity. Alpha actins are a major constituent of the contractile apparatus.
Beta-actin has been shown to interact with SPTBN2.
Recurrent mutations in this gene have been associated to cases of diffuse large B-cell lymphoma.
Beta actin is usually used as a loading control, for among others, the integrity of cells, protein degradation, in PCR and Western blotting. Its molecular weight is approximately 42 kD.
8.00
1 votes
149
BRAF
BRAF is a human gene that makes a protein called B-Raf. The gene is also referred to as proto-oncogene B-Raf and v-Raf murine sarcoma viral oncogene homolog B1, while the protein is more formally known as serine/threonine-protein kinase B-Raf.
The B-Raf protein is involved in sending signals inside cells, which are involved in directing cell growth. In 2002, it was shown to be faulty (mutated) in human cancers.
Certain other inherited BRAF mutations cause birth defects.
Drugs that treat cancers driven by BRAF have been developed. On August 17, 2011, one of them, Vemurafenib, was approved by FDA for treatment of late-stage melanoma as the first drug to come out of fragment-based drug discovery.
B-Raf is a member of the Raf kinase family of serine/threonine-specific protein kinases. This protein plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion.
Mutations in the BRAF gene can cause disease in two ways. First, mutations can be inherited and cause birth defects. Second, mutations can appear later in life and cause cancer, as an oncogene.
Inherited mutations in this gene cause cardiofaciocutaneous syndrome, a
8.00
1 votes
150
BRCA1
- Chromosome: Chromosome 17 (human)
- Locus: 17 - [38449839,38530993]
- Genome: Human genome
BRCA1 ( /ˈbrækə/; breast cancer 1, early onset) is a human caretaker gene that produces a protein called breast cancer type 1 susceptibility protein, responsible for repairing DNA. The first evidence for the existence of the gene was provided by the King laboratory at UC Berkeley in 1990. Four years later, after an international race to find it, the gene was cloned in 1994 by scientists at Myriad Genetics.
BRCA1 is expressed in the cells of breast and other tissue, where it helps repair damaged DNA, or destroy cells if DNA cannot be repaired. If BRCA1 itself is damaged, damaged DNA is not repaired properly and this increases risks for cancers.
The protein encoded by the BRCA1 gene combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). The BRCA1 protein associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. Thus, this protein plays a role in transcription, DNA repair of double-stranded breaks ubiquitination, transcriptional regulation as well as other functions.
The human BRCA1
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1 votes
152
Keratin 13
Keratin 13 (or cytokeratin 13) is a protein that in humans is encoded by the KRT13 gene.
Keratin 13 is a type I cytokeratin, it is paired with keratin 4 and found in the suprabasal layers of non-cornified stratified epithelia. Mutations in the gene encoding this protein and keratin 4 have been associated with the autosomal dominant disorder White Sponge Nevus.
K13 is negative in buccal epithelium.
8.00
1 votes
153
Msh homeobox 2
- Chromosome: Chromosome 5
- Locus: 5 + [174084180,174090507]
- Genome: Human genome
Homeobox protein MSX-2 is a protein that in humans is encoded by the MSX2 gene.
This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis of neural crest-derived cells required for proper craniofacial morphogenesis. The encoded protein may also have a role in promoting cell growth under certain conditions and may be an important target for the RAS signaling pathways. Mutations in this gene are associated with parietal foramina 1 and craniosynostosis type 2.
Msh homeobox 2 has been shown to interact with DLX5, DLX2 and MSX1.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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1 votes
154
MYH16 gene
The MYH16 gene encodes a protein called myosin heavy chain 16 which is a muscle protein in mammals. At least in primates, it is a specialized muscle protein found only in the temporalis and masseter muscles of the jaw. Myosin heavy chain proteins are important in muscle contraction, and if they are missing, the muscles will be smaller. In non-human primates, MYH16 is functional and the animals have powerful jaw muscles. In humans, the MYH16 gene has a mutation which causes the protein not to function. Although the exact importance of this change in accounting for differences between humans and apes is not yet clear, such a change may be related to increased brain size and finer control of the jaw which facilitates speech. It is not clear how the MYH16 mutation relates to other changes to the jaw and skull in early human evolution (for example, whether the MYH16 mutation happened first and led to other changes, or whether the MYH16 mutation happened after other changes made the MYH16 protein no longer necessary).
The initial discovery of the human MYH16 mutation was published in 2004 by a team at the University of Pennsylvania led by Hansell H. Stedman. The date of the mutation has
8.00
1 votes
155
Short stature homeobox gene
- Genome: Human genome
Short stature homeobox gene or SHOX is a gene on the X chromosome and Y chromosome which is associated with short stature in humans if mutated or present in only one copy (haploinsufficiency).
The gene was first found during a search for the cause of short stature in women with Turner syndrome, in which there is loss of genetic material from the X chromosome, classically by loss of one entire X chromosome.
Since its discovery, the SHOX gene has been found to play a role in idiopathic short stature (short stature of unknown cause without other symptoms), Léri-Weill dyschondrosteosis, and Langer mesomelic dysplasia.
Gene dosage effects of extra copies of SHOX may be a cause of the increased stature seen in other sex chromosome aneuploidy conditions such as 47,XXX, 47,XYY, 47,XXY, 48,XXYY, etc.
The SHOX gene is a homeobox gene, meaning that it helps regulate development. The SHOX gene is composed of 6 different exons and is located in the pseudoautosomal region (PAR1) of the X chromosome and Y chromosome. Experiments have found similar genes in a variety of animals and insects.
8.00
1 votes
157
Homeobox A9
- Chromosome: Chromosome 7 (human)
- Locus: 7 - [27168581,27171673]
- Genome: Human genome
Homeobox protein Hox-A9 is a protein that in humans is encoded by the HOXA9 gene.
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is highly similar to the abdominal-B (Abd-B) gene of Drosophila. A specific translocation event which causes a fusion between this gene and the NUP98 gene has been associated with myeloid leukemogenesis.
HOXA9 has been shown to interact with PBX2, TRIP6 and MEIS1.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
7.00
2 votes
158
MecA gene
The mecA gene is a gene found in bacterial cells. The mecA gene allows a bacterium to be resistant to antibiotics such as methicillin, penicillin, erythromycin, tetracycline and other penicillin-like antibiotics.
The most commonly known carrier of the mecA gene is the bacterium known as MRSA. It is also found in Staphylococcus aureus and Streptococcus pneumoniae strains resistant to penicillin-like antibiotics. In Staphylococcus species, mecA is spread on the SCCmec genetic element.
The mecA gene does not allow the ringlike structure of penicillin-like antibiotics to attack the enzymes that help form the cell wall of the bacterium (transpeptidases), and hence the bacteria is allowed to replicate as normal. The gene encodes the protein PBP2A (Penicillin binding protein 2A). PBP2A has a low affinity for beta-lactam antibiotics such as methicillin and penicillin. This enables transpeptidase activity in the presence of beta-lactams, preventing them from inhibiting cell wall synthesis.
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159
RET proto-oncogene
- Chromosome: Chromosome 10 (human)
- Locus: 10 + [42892532,42944954]
- Genome: Human genome
The RET proto-oncogene encodes a receptor tyrosine kinase for members of the glial cell line-derived neurotrophic factor family of extracellular signalling molecules. RET loss of function mutations are associated with the development of Hirschsprung's disease, while gain of function mutations are associated with the development of various types of human cancer, including medullary thyroid carcinoma, multiple endocrine neoplasias type 2A and 2B, pheochromocytoma and parathyroid hyperplasia.
RET is an abbreviation for "rearranged during transfection", as the DNA sequence of this gene was originally found to be rearranged within a 3T3 fibroblast cell line following its transfection with DNA taken from human lymphoma cells. The human gene RET is localized to chromosome 10 (10q11.2) and contains 21 exons.
The natural alternative splicing of the RET gene results in the production of 3 different isoforms of the protein RET. RET51, RET43 and RET9 contain 51, 43 and 9 amino acids in their C-terminal tail respectively. The biological roles of isoforms RET51 and RET9 are the most well studied in-vivo as these are the most common isoforms in which RET occurs.
Common to each isoform is a domain
7.00
2 votes
160
SOX2
SRY (sex determining region Y)-box 2, also known as SOX2, is a transcription factor that is essential for maintaining self-renewal, or pluripotency, of undifferentiated embryonic stem cells. Sox2 is a member of the Sox family of transcription factors, which have been shown to play key roles in many stages of mammalian development. This protein family shares highly conserved DNA binding domains known as HMG (High-mobility group) box domains containing approximately 80 amino acids. Sox2 has a critical role in maintenance of embryonic and neural stem cells and holds great promise in research involving induced pluripotency, an emerging and very promising field of regenerative medicine.
LIF (Leukemia inhibitory factor) signaling, which maintains pluripotency in mouse embryonic stem cells, activates Sox2 downstream of the JAK-STAT signaling pathway and subsequent activation of Klf4 (a member of the family of Kruppel-like factors). Oct-4, Sox2 and Nanog positively regulate transcription of all pluripotency circuitry proteins in the LIF pathway.
NPM1, a transcriptional regulator involved in cell proliferation, individually forms complexes with Sox2, Oct4 and Nanog in embryonic stem cells.
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2 votes
161
60S ribosomal protein L28
60S ribosomal protein L28 is a protein that in humans is encoded by the RPL28 gene.
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L28E family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.
6.00
3 votes
162
Bone morphogenetic protein 4
Bone morphogenetic protein 4 is a protein that in humans is encoded by` BMP4 gene.
BMP4 is a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The superfamily includes large families of growth and differentiation factors.
Bone morphogenetic proteins were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site.
This particular family member plays an important role in the onset of endochondral bone formation in humans. It has been shown to be involved in muscle development, bone mineralization, and ureteric bud development.
In human embryonic development, BMP4 is a critical signaling molecule required for the early differentiation of the embryo and establishing of a dorsal-ventral axis. BMP4 is secreted from the dorsal portion of the notochord, and it acts in concert with sonic hedgehog (released from the ventral portion of the notochord) to establish a dorsal-ventral axis for the differentiation of later structures.
BMP4 stimulates differentiation of overlying ectodermal tissue.
Inhibition of the BMP4 signal (by chordin, noggin, or
6.00
3 votes
163
BRCA2
- Chromosome: Chromosome 13 (human)
- Locus: 13 + [31787616,31871808]
- Genome: Human genome
BRCA2 (breast cancer type 2 susceptibility protein) is a protein found inside cells. In humans, the instructions to make this protein are carried by a gene, also called BRCA2. BRCA2 belongs to the tumor suppressor gene family, and orthologs have been identified in most mammals for which complete genome data are available. The protein encoded by this gene is involved in the repair of chromosomal damage with an important role in the error-free repair of DNA double strand breaks.
The BRCA2 gene is located on the long (q) arm of chromosome 13 at position 12.3 (13q12.3) and is 84,188 base pairs long.
Although the structures of the BRCA1 and BRCA2 genes are very different, at least some functions are interrelated. The proteins made by both genes are essential for repairing damaged DNA. BRCA2 binds the single strand DNA and directly interacts with the recombinase RAD51 to stimulates strand invasion a vital step of homologous recombination. The localization of RAD51 to the DNA double-strand break requires the formation of BRCA1-PALB2-BRCA2 complex. PALB2 (Partner and localizer of BRCA2) can function synergistically with a BRCA2 chimera (termed piccolo, or piBRCA2) to further promote strand
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3 votes
164
Keratin 9
Keratin 9 is a protein that in humans is encoded by the KRT9 gene.
Keratin 9 is a type I cytokeratin. It is found only in the terminally differentiated epidermis of palms and soles. Mutations in the gene encoding this protein cause epidermolytic palmoplantar keratoderma.
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4 votes
165
MAS1 oncogene
The MAS1 oncogene is a G protein-coupled receptor which binds the angiotensin-II metabolite angiotensin-(1-7). The MAS1 receptor when activated by binding angiotensin-(1-7) opposes many of the effects of angiotensin-II activated angiotensin receptor. Hence MAS1 receptor agonists have similar therapeutic effects as angiotensin-II receptor antagonists including lowering blood pressure.
5.00
4 votes
166
ACADVL
ACADVL is a gene associated with very long-chain acyl-coenzyme A dehydrogenase deficiency.
5.67
3 votes
167
Beta-1 adrenergic receptor
The beta-1 adrenergic receptor (β1 adrenoreceptor), also known as ADRB1, is a beta-adrenergic receptor, and also denotes the human gene encoding it. It is a G-protein coupled receptor associated with the Gs heterotrimeric G-protein.
Actions of the β1 receptor include:
Isoprenaline has higher affinity for β1 than noradrenaline, which, in turn, binds with higher affinity than adrenaline. Selective agonists to the beta-1 receptor are:
(Beta blockers) β1-selective ones are:
Gs renders adenylate cyclase activated, resulting in increase of cAMP.
Specific polymorphisms in the ADRB1 gene have been shown to affect the resting heart rate and can be involved in heart failure.
Beta-1 adrenergic receptor has been shown to interact with DLG4 and GIPC1. Interaction between testosterone and β-1 ARs have been shown in anxiolytic behaviors in the basolateral amygdala.
5.67
3 votes
168
DapB
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0031
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
dihydrodipicolinate reductase
5.67
3 votes
169
DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)
- Chromosome: Chromosome 3 (human)
- Locus: 3 - [184143252,184181019]
- Genome: Human genome
DCN1-like protein 1 is a protein that in humans is encoded by the DCUN1D1 gene.
DCUN1D1 has been shown to interact with CAND1, RBX1, CUL1, CUL3 and CUL2.
5.67
3 votes
170
DmX gene
The DmX gene (Drosophila melanogaster X-gene) is an extremely large WD-protein coding gene, which is found in all eukaryotes sequenced so far. Loss of functions mutations are lethal in Drosophila melanogaster during first larval instar. In human and mouse, probably in all mammalians, there are two copies of the DmX present, called DMXL1 and DMXL2. The ubiquitous existence of this gene in all higher organisms and the fact that the fruitfly cannot live without a functional copy of this gene indicates that the DmX coded protein is indispensable for life. The DmX gene codes for one of the largest non internally repetitive polypeptide chain known.
5.67
3 votes
171
HOXA13
- Chromosome: Chromosome 7 (human)
- Locus: 7 - [27203023,27206249]
- Genome: Human genome
Homeobox protein Hox-A13 is a protein that in humans is encoded by the HOXA13 gene.
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation.
Expansion of a polyalanine tract in the encoded protein can cause hand-foot-genital syndrome, also known as hand-foot-uterus syndrome.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
5.67
3 votes
172
60S ribosomal protein L31
60S ribosomal protein L31 is a protein that in humans is encoded by the RPL31 gene.
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L31E family of ribosomal proteins. It is located in the cytoplasm. Higher levels of expression of this gene in familial adenomatous polyps compared to matched normal tissues have been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.
RPL31 has been shown to interact with BRCA1.
6.50
2 votes
173
Acetyl-Coenzyme A carboxylase alpha
- Chromosome: Chromosome 17 (human)
- Locus: 17 - [32516039,32841014]
- Genome: Human genome
6.50
2 votes
174
DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)
- Chromosome: Chromosome 4 (human)
- Locus: 4 + [52404032,52477759]
- Genome: Human genome
DCN1-like protein 4 is a protein that in humans is encoded by the DCUN1D4 gene.
6.50
2 votes
175
Hect domain and RLD 2
- Chromosome: Chromosome 15 (human)
- Locus: 15 - [26029780,26240889]
- Genome: Human genome
Probable E3 ubiquitin-protein ligase HERC2 is an enzyme that in humans is encoded by the HERC2 gene.
A mutation in the HERC2 gene adjacent to OCA2, affecting OCA2's expression in the human iris, is found common to nearly all people with blue eyes. It has been hypothesized that all blue eyed humans share a single common ancestor with whom the mutation originated.
6.50
2 votes
176
MADS-box
The MADS box is a conserved sequence motif found in genes which comprise the MADS-box gene family. The MADS box encodes the DNA-binding MADS domain. The MADS domain binds to DNA sequences of high similarity to the motif CC[A/T]6GG termed the CArG-box. MADS-domain proteins are generally transcription factors. The length of the MADS-box reported by various researchers varies somewhat, but typical lengths are in the range of 168 to 180 base pairs, i.e. the encoded MADS domain has a length of 56 to 60 amino acids. There is evidence that the MADS domain evolved from a sequence stretch of a type II topoisomerase in a common ancestor of all extant eukaryotes.
The first MADS-box gene to be identified was ARG80 from budding yeast, Saccharomyces cerevisiae, but was at that time not recognized as a member of a large gene family. The MADS-box gene family got its name later as an acronym referring to the four founding members, ignoring ARG80:
MADS-box genes were detected in nearly all eukaryotes studied. While the genomes of animals and fungi generally possess only around one to five MADS-box genes, genomes of flowering plants have around 100 MADS-box genes. Two types of MADS-domain proteins
6.50
2 votes
177
MSC
Musculin is a protein that in humans is encoded by the MSC gene.
The protein encoded by this gene is a transcriptional repressor capable of binding an E-box element either as a homodimer or as a heterodimer with E2A in vitro. The encoded protein also forms heterodimers with E2A proteins in vivo. This protein is capable of inhibiting the transactivation capability of E47, an E2A protein, in mammalian cells. This gene is a downstream target of the B-cell receptor signal transduction pathway.
6.50
2 votes
178
OR5AY1
Olfactory receptor 14K1 is a protein that in humans is encoded by the OR14K1 gene.
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
6.50
2 votes
179
60S ribosomal protein L41
60S ribosomal protein L41 is a protein that in humans is encoded by the RPL41 gene.
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with the yeast ribosomal protein YL41, belongs to the L41E family of ribosomal proteins. It is located in the cytoplasm. The protein can interact with the beta subunit of protein kinase CKII and can stimulate the phosphorylation of DNA topoisomerase II-alpha by CKII. Two alternative splice variants have been identified, both encoding the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.
7.00
1 votes
180
Acyl-Coenzyme A dehydrogenase, long chain
- Chromosome: Chromosome 2 (human)
- Locus: 2 - [210760958,210798391]
- Genome: Human genome
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1 votes
181
Copper chaperone for superoxide dismutase
Copper chaperone for superoxide dismutase is a metalloprotein that in humans is encoded by the CCS gene.
Copper chaperone for superoxide dismutase specifically delivers Cu to copper/zinc superoxide dismutase and may activate copper/zinc superoxide dismutase through direct insertion of the Cu cofactor.
CCS (gene) has been shown to interact with SOD1 and APBA1.
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1 votes
183
Kir6.2
Kir6.2 is a major subunit of the ATP-sensitive K channel, an inward-rectifier potassium ion channel. The gene encoding the channel is called KCNJ11 and mutations in this gene are associated with congenital hyperinsulinism.
It is an integral membrane protein. The protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor (SUR) to constitute the ATP-sensitive K channel.
Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM).
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
7.00
1 votes
184
Neural Cell Adhesion Molecule
Neural Cell Adhesion Molecule (NCAM, also the cluster of differentiation CD56) is a homophilic binding glycoprotein expressed on the surface of neurons, glia, skeletal muscle and natural killer cells. NCAM has been implicated as having a role in cell–cell adhesion, neurite outgrowth, synaptic plasticity, and learning and memory.
NCAM is a glycoprotein of Immunoglobulin(Ig)superfamily. At least 27 alternatively spliced NCAM mRNAs are produced, giving a wide diversity of NCAM isoforms. The three main isoforms of NCAM vary only in their cytoplasmic domain:
The extracellular domain of NCAM consists of five immunoglobulin-like (Ig) domains followed by two fibronectin type III (FNIII) domains. The different domains of NCAM have been shown to have different roles, with the Ig domains being involved in homophilic binding to NCAM, and the FNIII domains being involved signaling leading to neurite outgrowth.
Homophilic binding occurs between NCAM molecules on opposing surfaces (trans-) and NCAM molecules on the same surface (cis-)1. There is much controversy as to how exactly NCAM homophilic binding is arranged both in trans- and cis-. Current models suggest trans- homophilic binding occurs
7.00
1 votes
185
RpsT
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0023
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
30S ribosomal subunit protein S20
7.00
1 votes
186
RrsH
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0201
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
16S rRNA (E.coli)
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1 votes
187
TAZ gene
The TAZ gene is a gene in human that influences the development of mesenchymal stem cell toward bone cell rather than fat cells.
http://web.mit.edu/newsoffice/2005/bonefatgene.html (11 Aug. 2005 article on the discovery)
5.33
3 votes
188
5-HT2C receptor
The 5-HT2C receptor is a subtype of 5-HT receptor that binds the endogenous neurotransmitter serotonin (5-hydroxytryptamine, 5-HT). It is a G protein-coupled receptor (GPCR) that is coupled to Gq/G11 and mediates excitatory neurotransmission. HTR2C denotes the human gene encoding for the receptor, that in humans is located at the X chromosome. As males have one copy of the gene and in females one of the two copies of the gene is repressed, polymorphisms at this receptor can affect the two sexes to differing extent.
5-HT2C receptors are widely distributed across the periphery and brain in humans.
The 5-HT2C receptor is one of the many binding sites for serotonin. Activation of this receptor by serotonin inhibits dopamine and norepinephrine release in certain areas of the brain.
5-HT2C receptors significantly regulate mood, anxiety, feeding, and reproductive behavior. 5-HT2C receptors regulate dopamine release in the striatum, prefrontal cortex, nucleus accumbens, hippocampus, hypothalamus, and amygdala, among others.
Research indicates that some suicide victims have an abnormally high number of 5-HT2C receptors in the prefrontal cortex. There is some mixed evidence that agomelatine,
6.00
2 votes
189
Abhydrolase domain containing 2
- Chromosome: Chromosome 15 (human)
- Locus: 15 + [87432428,87546590]
- Genome: Human genome
Abhydrolase domain-containing protein 2 is an enzyme that in humans is encoded by the ABHD2 gene.
This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. Alternative splicing of this gene results in two transcript variants encoding the same protein.
6.00
2 votes
190
Alpha-1A adrenergic receptor
The alpha-1A adrenergic receptor (α1A adrenoreceptor), also known as ADRA1A, formerly known as the alpha-1C adrenergic receptor, is an alpha-1 adrenergic receptor, and also denotes the human gene encoding it.
There are 3 alpha-1 adrenergic receptor subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins. Different subtypes show different patterns of activation.
This gene encodes the alpha-1A-adrenergic receptor. Alternative splicing of this gene generates four transcript variants, which encode four different isoforms with distinct C-termini but having similar ligand binding properties.
6.00
2 votes
191
ATP-binding cassette, sub-family F (GCN20), member 1
- Chromosome: Chromosome 6 (human)
- Locus: 6 + [30647148,30667287]
- Genome: Human genome
6.00
2 votes
192
Homeobox C13
- Chromosome: Chromosome 12 (human)
- Locus: 12 + [52618842,52626594]
- Genome: Human genome
Homeobox protein Hox-C13 is a protein that in humans is encoded by the HOXC13 gene.
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the development of hair, nail, and filiform papilla.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
6.00
2 votes
193
TGFB-induced factor homeobox 1
- Chromosome: Chromosome 18 (human)
- Locus: 18 + [3402071,3448408]
- Genome: Human genome
Homeobox protein TGIF1 is a protein that in humans is encoded by the TGIF1 gene. Alternative splicing has been observed at this locus and eight variants, encoding four distinct isoforms, are described.
The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult.
Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain.
Homeobox protein TGIF1 has been shown to interact with HDAC1, CTBP1, C-jun and Mothers against decapentaplegic homolog 2.
6.00
2 votes
194
Acetyl-Coenzyme A acyltransferase 1 (peroxisomal 3-oxoacyl-Coenzyme A thiolase)
- Chromosome: Chromosome 3 (human)
- Locus: 3 - [38139210,38153618]
- Genome: Human genome
5.50
2 votes
195
Alanyl-tRNA synthetase
- Chromosome: Chromosome 16 (human)
- Locus: 16 - [68843797,68880912]
- Genome: Human genome
5.50
2 votes
196
Canaanite gene
Genetic research using Y-chromosome haploid analysis has identified a Phoenician genetic marker (a so-to-speak "Canaanite gene") among modern Lebanese populations, including among Maronite Christians and Shi'ite Muslims, especially near the coast. Initial findings show that the modern Lebanese gene pools comprise indigenous Canaanites, followed by immigration waves from Arabs, Crusader Europeans, and Seljuk Turks. The American University of Beirut launched the Phoenician genographic project to precisely map the genetic makeup of the Lebanese population and even the Mediterranean populations where ancient Canaanites colonized. A high-frequency of the Canaanite gene has even been detected in the Iberian Peninsula as well as in Malta, an island that Phoenicians colonized.
5.50
2 votes
197
MurD
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0088
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
UDP-N-acetylmuramoyl-L-alanine:D-glutamate ligase
5.50
2 votes
198
MurG
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0090
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
N-acetylglucosaminyl transferase
5.50
2 votes
199
VJ recombination
V(D)J recombination, also known as somatic recombination, is a mechanism of genetic recombination in the early stages of immunoglobulin (Ig) and T cell receptors (TCR) production of the immune system. V(D)J recombination takes place in the primary lymphoid tissue (the bone marrow for B cells, and Thymus for T cells).V(D)J recombination nearly randomly combines Variable, Diverse, and Joining gene segments of vertebrates, and because of its randomness in choosing different genes, is able to diversely encode proteins to match antigens from bacteria, viruses, parasites, dysfunctional cells such as tumor cells, and pollens.
Human antibody molecules (and B cell receptors) comprise heavy and light chains with both constant (C) and variable (V) regions that are encoded by genes on three loci.
Multiple genes for the variable regions are encoded in the human genome that contain three distinct types of segments. For example, the immunoglobulin heavy chain region contains 44 Variable (V) genes plus 27 Diversity (D) genes and 6 Joining (J) genes. The light chains also possess numerous V and J genes, but do not have D genes. By the mechanism of DNA rearrangement of these regional genes it is
5.50
2 votes
200
FTO gene
Fat mass and obesity-associated protein also known as alpha-ketoglutarate-dependent dioxygenase FTO is an enzyme that in humans is encoded by the FTO gene located on chromosome 16. As one homolog in the AlkB family proteins, it is the first mRNA demethylase that has been identified. Certain variants of the FTO gene appear to be correlated with obesity in humans.
The amino acid sequence of the transcribed FTO protein shows high homology with the enzyme AlkB which oxidatively demethylates DNA. Recombinant FTO protein was first discovered to catalyze demethylation of 3-methylthymine in single-stranded DNA, and 3-methyluridine in single-stranded RNA, with low efficiency. The nucleoside N6-methyladenosine, an abundant modification in RNA, was then found to be a major substrate of FTO. The FTO gene expression was also found to be significantly upregulated in the hypothalamus of rats after food deprivation and strongly negatively correlated with the expression of orexogenic galanin like peptide which is involved in the stimulation of food intake.
Increases in hypothalamic expression of FTO are associated with the regulation of energy intake but not feeding reward.
N6-methyladenosine (m6A)
4.67
3 votes
201
Factor XII
- Chromosome: Chromosome 5
- Locus: 5 - [176761746,176769182]
- Genome: Human genome
Coagulation factor XII also known as Hageman factor is a plasma protein. It is the zymogen form of factor XIIa, an enzyme (EC 3.4.21.38) of the serine protease (or serine endopeptidase) class. In humans, factor XII is encoded by the F12 gene.
Factor XII is part of the coagulation cascade and activates factor XI and prekallikrein. Factor XII itself is activated to factor XIIa by negatively charged surfaces, such as glass.
In vivo, factor XII is activated by contact to polyanions. Activated platelets secrete inorganic polymers, polyphosphates. Contact to polyphosphates activates factor XII and initiates fibrin formation by the intrinsic pathway of coagulation with critical importance for thrombus formation.Targeting polyphosphates with phosphatases interfered with procoagulant activity of activated platelets and blocked platelet-induced thrombosis in mice. Addition of polyphosphates restored defective plasma clotting of Hermansky-Pudlak syndrome patients, indicating that the inorganic polymer is the endogenous factor XII activator in vivo. Platelet polyphosphate-driven factor XII activation provides the link from primary hemostasis (formation of a platelet plug) with secondary
6.00
1 votes
202
HESX1
Homeobox expressed in ES cells 1, also known as homeobox protein ANF, is a homeobox protein that in humans is encoded by the HESX1 gene.
Expression of HEX1 and HESX1 marks the anterior visceral endoderm of the embryo. The AVE is an extra-embryonic tissue, key to the establishment of the anterior-posterior body axis.
Mutations in the HESX1 gene are associated with some cases of septo-optic dysplasia or Pickardt-Fahlbusch syndrome.
6.00
1 votes
203
Homeobox A6
- Chromosome: Chromosome 7 (human)
- Locus: 7 - [27151640,27153892]
- Genome: Human genome
Homeobox protein Hox-A6 is a protein that in humans is encoded by the HOXA6 gene.
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation.
6.00
1 votes
204
PTGER3
Prostaglandin E receptor 3, also known as EP3, is a prostaglandin receptor, encoded by the PTGER3 gene.
The receptor is a member of the G-protein coupled receptor family. It is one of four receptors identified for prostaglandin E2 (PGE2). This receptor may have many biological functions, which involve digestion, nervous system, kidney reabsorption, and uterine contraction activities. In the stomach, it inhibits gastric acid secretions.
Studies of the mouse counterpart suggest that this receptor may also mediate adrenocorticotropic hormone response as well as fever generation in response to exogenous and endogenous stimuli.
Multiple alternatively spliced transcript variants encoding eight distinct isoforms have been reported.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
6.00
1 votes
205
Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
- Chromosome: Chromosome 14 (human)
- Locus: 14 + [94148466,94160142]
- Genome: Human genome
6.00
1 votes
206
TCL1A
T-cell leukemia/lymphoma protein 1A is a protein that in humans is encoded by the TCL1A gene.
TCL1A has been shown to interact with AKT1 and AKT2.
6.00
1 votes
207
Abl gene
- Chromosome: Chromosome 9 (human)
- Locus: 9 + [132579088,132752882]
- Genome: Human genome
V-abl Abelson murine leukemia viral oncogene homolog 1 also known as ABL1 is a protein that, in humans, is encoded by the ABL1 gene located on chromosome 9.
The ABL1 proto-oncogene encodes a cytoplasmic and nuclear protein tyrosine kinase that has been implicated in processes of cell differentiation, cell division, cell adhesion, and stress response. Activity of ABL1 protein is negatively regulated by its SH3 domain, and deletion of the SH3 domain turns ABL1 into an oncogene. The t(9;22) translocation results in the head-to-tail fusion of the BCR and ABL1 genes, leading to a fusion gene present in many cases of chronic myelogenous leukemia. The DNA-binding activity of the ubiquitously expressed ABL1 tyrosine kinase is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function for ABL1. The ABL1 gene is expressed as either a 6- or a 7-kb mRNA transcript, with alternatively spliced first exons spliced to the common exons 2-11.
Mutations in the ABL1 gene are associated with chronic myelogenous leukemia (CML). In CML, the gene is activated by being translocated within the BCR (breakpoint cluster region) gene on chromosome 22. This new fusion gene, BCR-ABL, encodes an
5.00
2 votes
208
ACADM
- Chromosome: Chromosome 1 (human)
- Locus: 1 + [75962869,76001770]
- Genome: Human genome
ACADM (acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain) is a gene that provides instructions for making an enzyme called acyl-coenzyme A dehydrogenase that is important for breaking down (degrading) a certain group of fats called medium-chain fatty acids. These fatty acids are found in foods such as milk and certain oils, and they are also stored in the body's fat tissue. Medium-chain fatty acids are also produced when larger fatty acids are degraded. The acyl-coenzyme A dehydrogenase for medium-chain fatty acids (ACADM) enzyme is essential for converting these particular fatty acids to energy, especially during periods without food (fasting). The ACADM enzyme functions in mitochondria, the energy-producing centers within cells. It is found in the mitochondria of several types of tissues, particularly the liver.
The ACADM gene is located on the short (p) arm of chromosome 1 at position 31, from base pair 75,902,302 to base pair 75,941,203.
Medium-chain acyl-coenzyme A dehydrogenase deficiency can be caused by mutations in the ACADM gene. More than 30 ACADM gene mutations that cause medium-chain acyl-coenzyme A dehydrogenase deficiency have been identified. Many of these
5.00
2 votes
209
AceF
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0115
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
pyruvate dehydrogenase, dihydrolipoyltransacetylase component E2
5.00
2 votes
210
BCR gene
The breakpoint cluster region protein (BCR) also known as renal carcinoma antigen NY-REN-26 is a protein that in humans is encoded by the BCR gene. BCR is one of the two genes in the BCR-ABL complex, which is associated with the Philadelphia chromosome. Two transcript variants encoding different isoforms have been found for this gene.
Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The protein has serine/threonine kinase activity and is a GTPase-activating protein for RAC1 and CDC42.
A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein that is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint.
The Bcr-Abl oncoprotein oligomerisation domain found at the N-terminus of BCR is essential for the oncogenicity of the BCR-ABL fusion protein. The Bcr-Abl oncoprotein oligomerisation domain consists of a short N-terminal helix (alpha-1), a flexible loop
5.00
2 votes
211
CD133
CD133, originally known as AC133. CD133 is a glycoprotein also known in humans and rodents as Prominin 1 (PROM1). Currently the function of CD133 is unknown. It is a member of pentaspan transmembrane glycoproteins (5-transmembrane, 5-TM), which specifically localize to cellular protrusions.
CD133 is expressed in hematopoietic stem cells, endothelial progenitor cells, glioblastoma, neuronal and glial stem cells, various pediatric brain tumors, as well as adult kidney, mammary glands, trachea, salivary glands, placenta, digestive tract, testes, and some other cell types.
Recent studies in brain tumors have identified a CD133+ cell population thought to be a cancer stem cell population, which is rare, undergoes self-renewal and differentiation, and can propagate tumors when injected into immune-compromised mice. However, subsequent studies have indicated the difficulty in isolating pure CSC populations.
5.00
2 votes
212
HOXB3
- Chromosome: Chromosome 17 (human)
- Locus: 17 - [43981230,44006808]
- Genome: Human genome
Homeobox protein Hox-B3 is a protein that in humans is encoded by the HOXB3 gene.
This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML).
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
5.00
2 votes
213
SetA
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0070
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
broad specificity sugar efflux system
4.50
2 votes
214
5-HT1A receptor
The 5-HT1A receptor is a subtype of 5-HT receptor that binds the endogenous neurotransmitter serotonin (5-hydroxytryptamine, 5-HT). It is a G protein-coupled receptor (GPCR) that is coupled to Gi/Go and mediates inhibitory neurotransmission. HTR1A denotes the human gene encoding for the receptor.
The 5-HT1A receptor is the most widespread of all the 5-HT receptors. In the central nervous system, 5-HT1A receptors exist in the cerebral cortex, hippocampus, septum, amygdala, and raphe nucleus in high densities, while low amounts also exist in the basal ganglia and thalamus. The 5-HT1A receptors in the raphe nucleus are largely somatodendritic autoreceptors, whereas those in other areas such as the hippocampus are postsynaptic receptors.
5-HT1A receptor agonists decrease blood pressure and heart rate via a central mechanism, by inducing peripheral vasodilation, and by stimulating the vagus nerve. These effects are the result of activation of 5-HT1A receptors within the rostral ventrolateral medulla. The sympatholytic antihypertensive drug urapidil is an α1-adrenergic receptor antagonist and α2-adrenergic receptor agonist, as well as 5-HT1A receptor agonist, and it has been demonstrated
5.00
1 votes
215
ACTG1
- Chromosome: Chromosome 17 (human)
- Locus: 17 - [77091593,77094421]
- Genome: Human genome
Actin, gamma 1, also known as ACTG1, is a gene.
Actins are highly conserved proteins that are involved in various types of cell motility, and maintenance of the cytoskeleton. In vertebrates, three main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton, and as mediators of internal cell motility. Actin, gamma 1, encoded by this gene, is a cytoplasmic actin found in nonmuscle cells.
ACTG1 has been shown to interact with TMSB4X and CAP1.
5.00
1 votes
216
DdlB
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0092
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
D-alanine:D-alanine ligase
5.00
1 votes
217
HBA1
Hemoglobin, alpha 1, also known as HBA1, is a hemoglobin protein that in humans is encoded by the HBA1 gene.
The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1; this gene) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions.
Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin.
Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported.
Hemoglobin, alpha 1 has been shown to interact with HBB.
5.00
1 votes
218
PICALM
- Chromosome: Chromosome 11 (human)
- Locus: 11 - [85346132,85457755]
- Genome: Human genome
Phosphatidylinositol binding clathrin assembly protein, also known as PICALM, is a protein which in humans is encoded by the PICALM gene.
PICALM has been shown to interact with CLTC.
In humans, certain alleles of this gene have been statistically associated with an increased risk of developing late-onset Alzheimer's disease.
5.00
1 votes
219
RrsB
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b3968
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
16S ribosomal RNA
5.00
1 votes
220
5-HT1F receptor
5-hydroxytryptamine (serotonin) receptor 1F, also known as HTR1F is a 5-HT1 receptor protein and also denotes the human gene encoding it.
No selective 5HT1F antagonists are available as yet.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
4.00
1 votes
221
Agouti gene
The Agouti gene is responsible for determining whether a mammal's coat is banded (agouti) or of a solid color (non-agouti). The chief product of the Agouti gene is Agouti signalling peptide (ASP), but there are a number of alternative splice products.
In dogs, the Agouti gene is associated with various coat colors and patterns, including sable and tan points.
In horses, the Agouti gene suppresses the action of the extension locus that produces black pigment (eumelanin) into point coloration on the mane, tail, lower legs and tips of the ears, thus allowing the underlying red pigment, pheomelanin, to appear on the body. This produces the color known as bay.
Mice that are heterozygous for the Agouti yellow allele have yellow coats and tendencies towards obesity. Mice that are homozygous for the Agouti yellow allele have the lethal gene. Mice that are homozygous for the non-agouti allele and non-agouti-yellow allele have non-agouti coat color (such as black).
4.00
1 votes
222
Aminoadipate-semialdehyde synthase
- Chromosome: Chromosome 7 (human)
- Locus: 7 - [121503422,121561111]
- Genome: Human genome
Alpha-aminoadipic semialdehyde synthase, mitochondrial is an enzyme that in humans is encoded by the AASS gene.
This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia.
4.00
1 votes
223
Keratin 10
Keratin, type I cytoskeletal 10 also known as cytokeratin-10 (CK-10) or keratin-10 (K10) is a protein that in humans is encoded by the KRT10 gene. Keratin 10 is a type I keratin.
Keratin-10 is a member of the type I (acidic) cytokeratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. Mutations in this gene are associated with epidermolytic hyperkeratosis. This gene is located within a cluster of keratin family members on chromosome 17q21.
Keratin 10 has been shown to interact with AKT1.
4.00
1 votes
224
LpxC
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0096
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
UDP-3-O-acyl N-acetylglucosamine deacetylase
4.00
1 votes
225
RrsC
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b3756
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
16S Ribosomal RNA (E.coli)
4.00
1 votes
226
Shaker gene
The shaker (Sh) gene, when mutated, causes a variety of atypical behaviors in the fruit fly, Drosophila melanogaster. Under ether anesthesia, the fly’s legs will shake (hence the name); even when the fly is unanaesthetized, it will exhibit aberrant movements. Sh-mutant flies have a shorter lifespan than regular flies; in their larvae, the repetitive firing of action potentials as well as prolonged exposure to neurotransmitters at neuromuscular junctions occurs.
In Drosophila, the shaker gene is located on the X chromosome. The closest human homolog is KCNA3.
The Sh gene plays a part in the operation of potassium ion channels, which are integral membrane proteins and are essential to the correct functioning of the cell. A working Shaker channel is voltage-dependent and has four subunits which form a pore through which ions flow, carrying type-A potassium current (IA). A mutation in the Sh gene reduces the conductance of charge across the neuron since the channels do not work, causing the severe phenotypical aberrations mentioned above. These types of ion channels are responsible for the repolarization of the cell.
The ‘Shaker K’ channel is a homo tetrameric protein complex. When
4.00
1 votes
227
60S ribosomal protein L14
60S ribosomal protein L14' is a protein that in humans is encoded by the RPL14 gene.
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L14E family of ribosomal proteins. It contains a basic region-leucine zipper (bZIP)-like domain. The protein is located in the cytoplasm. This gene contains a trinucleotide (GCT) repeat tract whose length is highly polymorphic; these triplet repeats result in a stretch of alanine residues in the encoded protein. Transcript variants utilizing alternative polyA signals and alternative 5'-terminal exons exist but all encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.
RPL14 has been shown to interact with PHLDA1.
0.00
0 votes
228
Abhydrolase domain containing 5
- Chromosome: Chromosome 3 (human)
- Locus: 3 + [43707378,43735295]
- Genome: Human genome
1-acylglycerol-3-phosphate O-acyltransferase ABHD5 is an enzyme that in humans is encoded by the ABHD5 gene.
The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation.
Model organisms have been used in the study of ABHD5 function. A conditional knockout mouse line, called Abhd5 was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute.
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty three tests were carried out on mutant mice but no significant abnormalities were observed.
0.00
0 votes
229
ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
- Chromosome: Chromosome 9 (human)
- Locus: 9 - [135120383,135140450]
- Genome: Human genome
Histo-blood group ABO system transferase is an enzyme with glycosyltransferase activity which in humans is encoded by the ABO gene.
It determines the ABO blood group of an individual by modifying the oligosaccharides on cell surface glycoproteins. Variations in the sequence of the protein between individuals determine the type of modification and the blood group.
This gene encodes a protein related to the first discovered blood group system, ABO. Which allele is present in an individual determines the blood group. The 'O' blood group is caused by a deletion of guanine-258 in the gene which corresponds to a region near the N-terminus of the protein. This results in a frameshift and translation of an almost entirely different protein. This mutation results in a protein unable to modify oligosaccharides which end in fucose linked to galactose. This sugar combination is termed the H antigen.
The A and B alleles of the ABO gene express enzymes with glycosyltransferase activities that differ, adding either N-acetyl galactosamine or galactose to the H antigen, converting it into the A or B antigen respectively. Individuals who are heterozygous for this gene express both proteins and so
0.00
0 votes
230
Alpha-fetoprotein
- Chromosome: Chromosome 4 (human)
- Locus: 4 + [74520796,74540355]
- Genome: Human genome
Alpha-Fetal Protein (AFP, α-fetoprotein; also sometimes called alpha-1-fetoprotein or alpha-fetoglobulin) is a protein that in humans is encoded by the AFP gene. The AFP gene is located on the q arm of chromosome 4 (4q25).
AFP is a major plasma protein produced by the yolk sac and the liver during fetal development that is thought to be the fetal form of serum albumin. AFP binds to copper, nickel, fatty acids and bilirubin and is found in monomeric, dimeric and trimeric forms.
AFP is a glycoprotein of 591 amino acids and a carbohydrate moiety.
AFP is the most abundant plasma protein found in the human fetus. Plasma levels decrease rapidly after birth but begin decreasing prenatally starting at the end of the first trimester. Normal adult levels are usually achieved by the age of 8 to 12 months. The function of AFP in adults is unknown; however, in rodent fetuses it binds estradiol to prevent the transport of this hormone across the placenta. The main function of this is to prevent the masculinization of female fetuses. As human AFP does not bind estrogen, its function in human fetuses is less clear.
The rodent AFP system can be overridden with massive injections of estrogen, which
0.00
0 votes
231
ApaH
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0049
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
diadenosine tetraphosphatase
0.00
0 votes
232
Arylalkylamine N-acetyltransferase
- Chromosome: Chromosome 17 (human)
- Locus: 17 + [71975245,71977793]
- Genome: Human genome
0.00
0 votes
233
B-cell CLL/lymphoma 2
- Chromosome: Chromosome 18 (human)
- Locus: 18 - [58941558,59137592]
- Genome: Human genome
Bcl-2 (B-cell lymphoma 2) is the founding member of the Bcl-2 family of apoptosis regulator proteins encoded by the BCL2 gene. Bcl-2 derives its name from B-cell lymphoma 2, as it is the second member of a range of proteins initially described in chromosomal translocations involving chromosomes 14 and 18 in follicular lymphomas. Bcl-2 orthologs have been identified in numerous mammals for which complete genome data are available. The two isoforms of Bcl-2, Isoform 1, also known as 1G5M, and Isoform 2, also known as 1G5O/1GJH, exhibit similar fold. However, results in the ability of these isoforms to bind to the BAD and BAK proteins, as well as in the structural topology and electrostatic potential of the binding groove, suggest differences in antiapoptotic activity for the two isoforms
The Bcl-2 gene has been implicated in a number of cancers, including melanoma, breast, prostate, chronic lymphocytic leukemia, and lung carcinomas, as well as schizophrenia and autoimmunity. It is also thought to be involved in resistance to conventional cancer treatment. This suggests that decreased apoptosis may play a role in the development of cancer.
Cancer occurs as the result of a disturbance
0.00
0 votes
234
Beta-2 adrenergic receptor
The beta-2 adrenergic receptor (β2 adrenoreceptor), also known as ADRB2, is a beta-adrenergic receptor, and also denotes the human gene encoding it.
The ADRB2 gene is intronless. Different polymorphic forms, point mutations, and/or downregulation of this gene are associated with nocturnal asthma, obesity and type 2 diabetes.
The 3D crystallographic structure (see figure and links to the right) of the β2-adrenergic receptor has been determined by making a fusion protein with lysozyme to increase the hydrophillic surface area of the protein for crystal contacts.
This receptor is directly associated with one of its ultimate effectors, the class C L-type calcium channel CaV1.2. This receptor-channel complex is coupled to the Gs G protein, which activates adenylyl cyclase, catalysing the formation of cyclic adenosine monophosphate (cAMP) which then activates protein kinase A, and the counterbalancing phosphatase PP2A. The assembly of the signaling complex provides a mechanism that ensures specific and rapid signaling. A two-state biophysical and molecular model has been proposed to account for the pH and REDOX sensitivity of this and other GPCRs.
Beta-2 Adrenergic Receptors have also
0.00
0 votes
235
Bradykinin receptor B2
Bradykinin receptor B2 is a G-protein coupled receptor for bradykinin, encoded by the BDKRB2 gene in humans.
The B2 receptor is a G protein-coupled receptor, probably coupled to Gq and Gi. Gq stimulates phospholipase C to increase intracellular free calcium and Gi inhibits adenylate cyclase. Furthermore, the receptor stimulates the mitogen-activated protein kinase pathways. It is ubiquitously and constitutively expressed in healthy tissues.
The B2 receptor forms a complex with angiotensin converting enzyme (ACE), and this is thought to play a role in cross-talk between the renin-angiotensin system (RAS) and the kinin-kallikrein system (KKS). The heptapeptide angiotensin 1-7 (A1-7) also potentiates bradykinin action on B2 receptors.
Kallidin also signals through the B2 receptor.
The 9 amino acid bradykinin peptide elicits many responses including vasodilation, edema, smooth muscle spasm and pain fiber stimulation.
Alternate start codons result in two isoforms of the protein.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
0.00
0 votes
236
COCH
- Chromosome: Chromosome 14 (human)
- Locus: 14 + [30413515,30429572]
- Genome: Human genome
Cochlin is a protein that in humans is encoded by the COCH gene.
The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene.
0.00
0 votes
237
Feline sarcoma oncogene
Proto-oncogene tyrosine-protein kinase Fes/Fps is an enzyme that in humans is encoded by the FES gene.
This gene encodes the human cellular counterpart of a feline sarcoma retrovirus protein with transforming capabilities. The gene product has tyrosine-specific protein kinase activity and that activity is required for maintenance of cellular transformation. Its chromosomal location has linked it to a specific translocation event identified in patients with acute promyelocytic leukemia but it is also involved in normal hematopoiesis. A truncated transcript has been identified that is generated utilizing a start site in one of the far downstream exons but a protein product associated with this transcript has not been identified.
Feline sarcoma oncogene has been shown to interact with BCAR1 and BCR gene.
0.00
0 votes
238
FtsA
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0094
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
ATP-binding cell division protein involved in recruitment of FtsK to Z ring
0.00
0 votes
239
GJB3
- Chromosome: Chromosome 1 (human)
- Locus: 1 + [35019376,35024553]
- Genome: Human genome
Gap junction beta-3 protein (GJB3), also known as connexin 31 (Cx31) — is a protein that in humans is encoded by the GJB3 gene.
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein.
0.00
0 votes
240
Homeobox A1
- Chromosome: Chromosome 7 (human)
- Locus: 7 - [27099136,27102149]
- Genome: Human genome
Homeobox protein Hox-A1 is a protein that in humans is encoded by the HOXA1 gene.
Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region.
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and cellular differentiation. The homeobox protein Hox-A1 may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development.
A common polymorphism in the HOXA1 gene is associated with a susceptibility to autism spectrum disorder.
Other HOXA1 mutations are associated with Bosley-Salih-Alorainy syndrome (BSAS) or the Athabascan brainstem dysgenesis syndrome (ABDS).
The HOXA1 gene is repressed by the microRNA miR-10a.
This article incorporates text from the United States National Library
0.00
0 votes
241
Homeobox A5
- Chromosome: Chromosome 7 (human)
- Locus: 7 - [27147520,27149811]
- Genome: Human genome
Homeobox protein Hox-A5 is a protein that in humans is encoded by the HOXA5 gene.
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Methylation of this gene may result in the loss of its expression and, since the encoded protein upregulates the tumor suppressor p53, this protein may play an important role in tumorigenesis.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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242
KefC
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0047
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
potassium:proton antiporter
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243
Keratin 18
Keratin 18 is a type I cytokeratin. It is, together with its filament partner keratin 8, perhaps the most commonly found products of the intermediate filament gene family. They are expressed in single layer epithelial tissues of the body. Mutations in this gene have been linked to cryptogenic cirrhosis. Two transcript variants encoding the same protein have been found for this gene.
Keratin 18 is often used together with keratin 8 and keratin 19 to differentiate cells of epithelial origin from hematopoietic cells in tests that enumerate circulating tumor cells in blood.
Keratin 18 has been shown to interact with Collagen, type XVII, alpha 1, DNAJB6, Pinin and TRADD.
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244
Lck gene
The Lck gene encodes a protein, proto-oncogene tyrosine-protein kinase LCK, also known asT cell-specific protein-tyrosine kinase. It belongs to the Src protein family, containing SH2 and SH3 domain.
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245
MYH7
MYH7 is a gene encoding a myosin heavy chain beta (MHC-β) isoform (slow twitch) expressed primarily in the heart.
Changes in the relative abundance of MHC-β and MHC-α (MYH6, the fast isoform of cardiac myosin heavy chain) correlate with the contractile velocity of cardiac muscle. In early fetal development, MHC-β is predominately expressed in the ventricles, while MHC-α is predominantly expressed in the atria. In healthy adult hearts, MHC-α is predominantly expressed in the atria (>90%), while MHC-β (~50%) is expressed in the atria of failing adult hearts. In vitro studies have demonstrated that newly formed cardiac myocytes express MHC-β, and after prolonged (1-5 weeks) contractile activity MHC-α becomes detectable. An allelic variant of this gene is associated with approximately 40% of the cases of Hypertrophic cardiomyopathy (HCM). This condition is an autosomal-dominant disease, in which a single copy of the variant gene causes enlargement of the left ventricle of the heart. Disease onset usually occurs later in life, perhaps triggered by changes in thyroid hormone function and/or physical stress.
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246
NfrA
- Chromosome: Escherichia coli str. K-12 substr. MG1655
- Locus: b0568
- Genome: Escherichia coli str. K-12 substr. MG1655 Genome
bacteriophage N4 receptor, outer membrane subunit
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247
PLEKHC1
- Chromosome: Chromosome 14 (human)
- Locus: 14 - [52393742,52487459]
- Genome: Human genome
Fermitin family homolog 2 is a protein that in humans is encoded by the FERMT2 gene.
PLEKHC1 has been shown to interact with FBLIM1.
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248
PRKCB1
Protein kinase C beta type is an enzyme that in humans is encoded by the PRKCB gene.
Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase has been reported to be involved in many different cellular functions, such as B cell activation, apoptosis induction, endothelial cell proliferation, and intestinal sugar absorption. Studies in mice also suggest that this kinase may also regulate neuronal functions and correlate fear-induced conflict behavior after stress. Alternatively spliced transcript variants encoding distinct isoforms have been reported. This gene could be associated with autism .
PRKCB1 has been shown to interact with RIPK4, Beta adrenergic
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249
Refsum disease
- Genome: Human genome
Refsum disease, also known as classic or adult Refsum disease, heredopathia atactica polyneuritiformis, phytanic acid oxidase deficiency and phytanic acid storage disease, is an autosomal recessive neurological disease that results from the over-accumulation of phytanic acid in cells and tissues. It is one of several disorders named after Norwegian neurologist Sigvald Bernhard Refsum (1907–1991).
Adult Refsum disease may be divided into the adult Refsum disease 1 and adult Refsum disease 2 subtypes. The former stems from mutations in the phytanoyl-CoA hydroxylase (PAHX aka PHYH) gene, while the latter stems from mutations in the peroxin 7 (PEX7) gene.
Adult Refsum disease should not be confused with infantile Refsum disease, a peroxisome biogenesis disorder resulting from deficiencies in the catabolism of very long chain fatty acids and branched chain fatty acids (such as phytanic acid) and plasmalogen biosynthesis.
Individuals with Refsum disease present with neurologic damage, cerebellar degeneration, and peripheral neuropathy. Onset is most commonly in childhood/adolescence with a progressive course, although periods of stagnation/remission occur. Symptoms also include night
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250
Zinc finger, DHHC-type containing 17
- Chromosome: Chromosome 12 (human)
- Locus: 12 + [75681498,75771606]
- Genome: Human genome
Palmitoyltransferase ZDHHC17 is an enzyme that contains a DHHC domain that in humans is encoded by the ZDHHC17 gene.
ZDHHC17 has been shown to interact with Huntingtin.
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