Blog page 85



                                               

AZIN1

Antizyme inhibitor 1 is a protein that in humans is encoded by the AZIN1 gene. SLM the ornithine decarboxylase catalyzes the conversion of ornithine to putrescine in the first and apparently rate-limiting step in the biosynthesis of polyamines. T ...

                                               

BAALC

BAALC is a gene that codes for the: brain and acute leukemia cytoplasmic protein. The official symbol and official name is maintained by the HGNC. The function of BAALC is not fully understood yet but has been suggested to have synaptic roles inv ...

                                               

BAG4

The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinas ...

                                               

Beta defensin 1

Beta-defensin 1 is a protein that in humans is encoded by the DEFB1 gene. Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Family members defensin very similar to the sequence of the protein. This gene encodes d ...

                                               

Beta-3 adrenergic receptor

Actions of the β 3 receptor include Enhancement of lipolysis in adipose tissue. Thermogenesis in skeletal muscle. It is located mainly in adipose tissue and is involved in the regulation of lipolysis and thermogenesis. Some β 3 agonists have demo ...

                                               

BNIP3L

This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein BNIP family. It interacts with the E1B 19 kDa protein which is responsible for the protection of virally induced cell death, as well as E1B 19 kDa-like sequences of BCL2, ...

                                               

Bridging integrator 3

The product of this gene is a member of the BAR domain protein family. The encoded protein is composed solely of a BAR domain which is predicted to form coiled coil structures and proposed to mediate dimerization, sense and induce membrane curvat ...

                                               

C8orf58

Chromosome 8 open reading frame 58 is an uncharacterised protein that in humans is encoded by the C8orf58 gene. The protein is predicted to be localized in the nucleus.

                                               

CA8

Carbonic anhydrase-related protein is an protein that in humans is encoded by the CA8 gene. The CA8 protein lacks the catalytic activity of other carbonic anhydrase enzymes. A rare, autosomal recessive form of cerebellar ataxia known as "cerebell ...

                                               

Calbindin 1

Calbindin 1 is a protein that in humans is encoded by the CALB1 gene. It belongs to the calbindin family of calcium-binding proteins, along with calretinin.

                                               

Carbonic anhydrase 13

Carbonic anhydrases CAs are a family of zinc metalloenzymes that catalyze the interconversion between carbon dioxide and water and the dissociated ions of carbonic acid i.e. bicarbonate and hydrogen ions.

                                               

Carbonic anhydrase II

Carbonic anhydrase II, is one of sixteen forms of human α carbonic anhydrases. Carbonic anhydrase catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Renal carboni ...

                                               

Carbonic anhydrase III, muscle specific

Carbonic anhydrase 3 is an enzyme that in humans is encoded by the CA3 gene. The CAIII carbonic anhydrase III as a member of multigene families, at least six separate genes are known that encode isozymes of carbonic anhydrase. These carbonic anhy ...

                                               

CDH17

Cadherin-17 is a protein that in humans is encoded by the CDH17 gene. This gene is a member of the cadherin superfamily, genes calcium-dependent, membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting of an extracellu ...

                                               

CHD7

Chromodomain-helicase-DNA-binding protein 7 also known as ATP-dependent helicase CHD7 is an enzyme that in humans is encoded by the CHD7 gene. CHD7 is ATP-dependent chromatin promodeler homologous to the Drosophila trithorax-group protein Kismet. ...

                                               

Chromatin accessibility complex 1

CHRAC1 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and pac ...

                                               

CNOT7

The protein encoded by this gene binds to an anti-proliferative protein, B-cell translocation protein 1, which negatively regulates cell proliferation. Binding of the two proteins, which is driven by phosphorylation of the anti-proliferative prot ...

                                               

Coiled-coil domain containing 166

Coiled-coil domain containing 166 is a protein that in humans is encoded by the CCDC166 gene. Its function is currently unknown. It contains a coiled-coil domain, hence the current origin of its name. It is primarily expressed in the testes.

                                               

Coiled-Coil Domain Containing Protein – 25

The gene encoding the CCDC25 protein is located at 8p21.1, on the short arm of human chromosome 8, and is transcribed into an mRNA product approximately 3.583 nucleotides in length.

                                               

Collagen triple helix repeat containing 1

This locus encodes a protein that may play a role in the cellular response to arterial injury through involvement in vascular remodeling. Mutations at this locus have been associated with Barrett esophagus and esophageal adenocarcinoma. Alternati ...

                                               

Collagen, type XIV, alpha 1

Collagen alpha-1 chain is a protein that in humans is encoded by the COL14A1 gene. It likely plays a role in collagen binding and cell-cell adhesion.

                                               

COP9 constitutive photomorphogenic homolog subunit 5

COP9 constitutive photomorphogenic homolog subunit 5, also known as COPS5 or Csn5, is a gene conserved from humans to Saccharomyces cerevisiae.

                                               

Copine 3

Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a protein which contains two type II C2 domains in the amino-terminus and an A domain-like sequence i ...

                                               

CPSF1

Cleavage and polyadenylation specificity factor subunit 1 is a protein that in humans is encoded by the CPSF1 gene. In most cases eukaryotic pre-messengermRNA 3 Prime ends are processed in two coordinated steps. First, there is the site-specific ...

                                               

CSMD1

CSMD1 contains 14 N-terminal CUB domains that are separated from each other by a Sushi domains followed by an additional 15 tandem Sushi domain segment.

                                               

CYP7B1

25-hydroxycholesterol 7-alpha-hydroxylase also known as oxysterol and steroid 7-alpha-hydroxylase is an enzyme that in humans is encoded by the CYP7B1 gene. This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome ...

                                               

DCC1

Model organisms have been used in the study of DSCC1 function. A conditional knockout mouse line, called Dscc1 tm1aKOMPWtsi was generated at the Wellcome Trust Sanger Institute as part of the International Knockout Mouse Consortium program - a hi ...

                                               

Death receptor 4

Death receptor 4, also known as TRAIL receptor 1 and tumor necrosis factor receptor superfamily member 10A, is a cell surface receptor of the TNF-receptor superfamily that binds TRAIL and mediates apoptosis.

                                               

Death receptor 5

Death receptor 5, also known as TRAIL receptor 2 and tumor necrosis factor receptor superfamily member 10B, is a cell surface receptor of the TNF-receptor superfamily that binds TRAIL and mediates apoptosis.

                                               

DEFA1

Defensin, alpha 1 also known as human alpha defensin 1, human neutrophil peptide 1 or neutrophil defensin 1 is a human protein that is encoded by the DEFA1 gene. Human alpha defensin 1 belongs to the alpha defensin family of antimicrobial peptides.

                                               

DEFA3

Defensin, alpha 3 also known as human alpha defensin 3, human neutrophil peptide 3 or neutrophil defensin 3 is a human protein that is encoded by the DEFA3 gene. Human alpha defensin 3 belongs to the alpha defensin family of antimicrobial peptides.

                                               

DEFA4

Defensin, alpha 4, also known as neutrophil defensin 4 or HNP4, is a human defensin peptide that is encoded by the DEFA4 gene. HNP4 is expressed in the granules of the neutrophil where it defends the host against bacteria and viruses.

                                               

DEFA5

Defensin, alpha 5 also known as human alpha defensin 5 is a human protein that is encoded by the DEFA5 gene. DEFA5 is expressed in the Paneth cells of the ileum. Defensins are a family of microbicidal and cytotoxic peptides considered to particip ...

                                               

DEFA6

Defensin, alpha 6 also known as human alpha defensin 6 is a human protein that is encoded by the DEFA6 gene. DEFA6 is expressed in the Paneth cells of the ileum.

                                               

DEFB103A

Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 103B, which has broad spectrum antimicrobial activity and ...

                                               

DEFB105A

Beta-defensin 105 is a protein that is encoded by the DEFB105A gene in humans. Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by composition ...

                                               

Dendrocyte expressed seven transmembrane protein

This gene encodes a seven-pass transmembrane protein that is primarily expressed in dendritic cells. The encoded protein is involved in a range of immunological functions carried out by dendritic cells. This protein plays a role in osteoclastogen ...

                                               

DEPTOR

DEP domain-containing mTOR-interacting protein also known as DEP domain-containing protein 6 is a protein that in humans is encoded by the DEPTOR gene.

                                               

Derlin-1

Derlin-1 also known as degradation in endoplasmic reticulum protein 1 is a membrane protein that in humans is encoded by the DERL1 gene. Derlin-1 is located in the membrane of the endoplasmic reticulum and is involved in retrotranslocation of spe ...

                                               

DGAT1

This gene encodes a multipass transmembrane protein that functions as a key metabolic enzyme. The encoded protein catalyzes the conversion of diacylglycerol and fatty acyl CoA to triacylglycerol. This enzyme can also transfer acyl CoA to retinol. ...

                                               

Diglyceride acyltransferase

Diglyceride acyltransferase, DGAT, catalyzes the formation of triglycerides from diacylglycerol and Acyl-CoA. The reaction catalyzed by DGAT is considered the terminal and only committed step in triglyceride synthesis and to be essential for inte ...

                                               

DLC1

Deleted in Liver Cancer 1 also known as DLC1 and StAR-related lipid transfer protein 12 is a protein which in humans is encoded by the DLC1 gene. This gene is deleted in the primary tumor of hepatocellular carcinoma. It maps to 8p22-P21.3, a regi ...

                                               

DLGAP2

The product of this gene is one of the membrane-associated guanylate kinases localized at postsynaptic density in neuronal cells. These kinases are a family of signaling molecules expressed at various submembrane domains and contain the PDZ, SH3 ...

                                               

DNA-PKcs

DNA-dependent protein kinase, catalytic subunit, also known as DNA-PKcs, is an enzyme that in humans is encoded by the gene designated as PRKDC or XRCC7. DNA-PKcs belongs to the phosphatidylinositol 3-kinase-related kinase protein family. The DNA ...

                                               

DOK2

The protein encoded by this gene is constitutively tyrosine phosphorylated in hematopoietic progenitors isolated from chronic myelogenous leukemia CML patients in the chronic phase. It may be a critical substrate for p210bcr/abl, a chimeric prote ...

                                               

DPYS

Dihydropyrimidinase is an enzyme that in humans is encoded by the DPYS gene. Dihydropyrimidinase catalyzes the conversion of 5.6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in the ...

                                               

DUSP4

The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negati ...

                                               

EBAG9

Receptor-binding cancer antigen expressed on SiSo cells is a protein that in humans is encoded by the EBAG9 gene. This gene was identified as estrogen-sensitive genes. The regulation of transcription through estrogen mediated by estrogen receptor ...

                                               

Ectonucleoside triphosphate diphosphohydrolase 4

This gene encodes a member of the apyrase protein family. Apyrases are enzymes that catalyze the hydrolysis of nucleotide diphosphates and triphosphates in a calcium or magnesium ion-dependent manner. The encoded protein is an endo-apyrase and ma ...

                                               

EEF1D

This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit functions as guanine nucleotide exchange factor. It is reported that this subunit int ...

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