ⓘ Free online encyclopedia. Did you know? page 193




                                               

ADAMTSL4

This gene is a member of ADAMTS a disintegrin and metalloproteinase with thrombospondin motifs-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with ...

                                               

ADAR

Double-stranded RNA-specific adenosine deaminase is an enzyme that in humans is encoded by the ADAR gene. Adenosine deaminases acting on RNA, Adar several enzymes responsible for binding to double-stranded RNA is dsRNA and the transformation of a ...

                                               

ADCK3

aarF domain containing kinase 3 is a protein that in humans is encoded by the ADCK3 gene. This gene encodes a mitochondrial protein similar to yeast ABC1 category, which functions in an electron-transferring membrane protein complex in the respir ...

                                               

Adenylosuccinate synthase

In molecular biology, Adenylosuccinate synthase is an enzyme that plays an important role in purine biosynthesis, by catalysing the guanosine triphosphate -dependent conversion of inosine monophosphate and aspartic acid to guanosine diphosphate, ...

                                               

Agmatinase

In enzymology, an agmatinase is an enzyme that catalyzes the chemical reaction agmatine + H 2 O ⇌ {\displaystyle \rightleftharpoons } putrescine + urea Thus, the two substrates of this enzyme agmatine and H2O, whereas its two products of putresci ...

                                               

AGTRAP

Type-1 angiotensin II receptor-associated protein is a protein that in humans is encoded by the AGTRAP gene. This gene encodes a transmembrane protein localized to the plasma membrane and perinuclear vesicular structures. The gene product interac ...

                                               

AIM2

Interferon-inducible protein AIM2 also known as absent in melanoma 2 or simply AIM2 is a protein that in humans is encoded by the AIM2 gene. Recent research has shown that AIM2 is part of the inflammasome and contributes to the defence against ba ...

                                               

AK2

Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been i ...

                                               

Protein kinase B

Protein kinase B, also known as Akt, is a serine/threonine-specific protein kinase that plays a key role in multiple cellular processes such as glucose metabolism, apoptosis, cell proliferation, transcription and cell migration.

                                               

AKT3

The protein encoded by this gene is a member of the AKT subfamily of serine/threonine protein kinases. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biol ...

                                               

Aldehyde dehydrogenase 4 family, member A1

Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH4A1 gene. This protein belongs to the family of aldehyde dehydrogenase proteins. This enzyme is located in mitochondrial matrix nad-dep ...

                                               

Aldehyde dehydrogenase 9 family, member A1

This protein belongs to the aldehyde dehydrogenase family of proteins. It has a high activity for oxidation of gamma-aminobutyraldehyde and other amino aldehydes. The enzyme catalyzes the dehydrogenation of gamma-aminobutyraldehyde to gamma-amino ...

                                               

Aldo-keto reductase family 1, member A1

Alcohol dehydrogenase also known as aldehyde reductase or aldo-keto reductase family 1 member A1 is an enzyme that in humans is encoded by the AKR1A1 gene. AKR1A1 belongs to the aldo-keto reductase superfamily. It catalyzes the NADPH-dependent re ...

                                               

ALG6

This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gen ...

                                               

ALG14

UDP-N-acetylglucosamine transferase subunit ALG14 homolog is a protein that in humans is encoded by the ALG14 gene. Asparagine N-glycosylation is an essential modification that regulates protein folding and stability. ALG13 and ALG14 protein that ...

                                               

Alpha-taxilin

Alpha-taxilin also known as interleukin-14 or high molecular weight B-cell growth factor is a protein that in humans is encoded by the TXLNA gene. Interleukin-14 is a cytokine that regulates the growth and proliferation of both normal and cancer ...

                                               

ALX3

The ALX3 gene, also known as aristaless-like homeobox 3, is a protein coding gene that provides instructions to build a protein which is a member of the homeobox protein family. This grouping regulates patterns of anatomical development. The gene ...

                                               

AMP deaminase

AMP deaminase 1 is an enzyme that in humans is encoded by the AMPD1 gene. Adenosine monophosphate deaminase is an enzyme that converts adenosine monophosphate inosine monophosphate amp to imp, releasing molecules of ammonia in the process.

                                               

AMP deaminase 2

AMP deaminase 2 is an enzyme that in humans is encoded by the AMPD2 gene. High levels of AMPD2 expression correlated with poor outcome of the patient and proliferative tumor phenotype in undifferentiated pleomorphic sarcoma of the UPS.

                                               

AMY2B

Amylases are secreted proteins that hydrolyze 1.4-alpha-glucoside" bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase gene ...

                                               

Angiopoietin-related protein 1

Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vesse ...

                                               

Angiopoietin-related protein 7

Angiopoietin-related protein 7 is a protein that in humans is encoded by the ANGPTL7 gene. This is one of 8 angiopoietin-like proteins. He may be involved in glaucoma.

                                               

ANGPTL3

The protein encoded by this gene is a member of the angiopoietin-like family of secreted factors. It is expressed predominantly in the liver, and has the characteristic structure of angiopoietins, consisting of a signal peptide, N-terminal coiled ...

                                               

Annexin A9

The annexins are a family of calcium-dependent phospholipid-binding proteins. Members of the annexin family contain 4 internal repeat domains, each of which includes a type II calcium-binding site. The calcium-binding sites are required for annex ...

                                               

ANP32E

Acidic leucine-rich nuclear phosphoprotein 32 family member E is a protein that in humans is encoded by the ANP32E gene. The ANP32E gene is located on chromosome 1q22. In mammalian cells, ANP32E has been shown to be an H2A.Z chaperone capable of ...

                                               

AP4B1

The heterotetrameric adaptor protein AP complexes sort integral membrane proteins at various stages of the endocytic and secretory pathways. AP4 is composed of 2 large chains, beta-4 AP4B1, this protein and epsilon-4 AP4E1, a medium chain, mu-4 A ...

                                               

APOBEC4

C-&gt, U-editing enzyme APOBEC-4, also known as Apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 4, is a protein that in humans is encoded by the APOBEC4 gene. It is primarily expressed in testis and found in mammals, chicken, but ...

                                               

ARF1

ADP-ribosylation factor 1 ARF1 is a member of the human ARF gene family. The family members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular traffick ...

                                               

ARHGAP29

ARHGAP29 is a gene located on chromosome 1p22 that encodes Rho GTPase activating protein 29, a protein that mediates the cyclical regulation of small GTP binding proteins such as RhoA.

                                               

ARHGEF2

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein-coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals.

                                               

ARHGEF11

Rho guanine nucleotide exchange factor 11 is a protein that in humans is encoded by the ARHGEF11 gene. This protein is also called RhoGEF11 or PDZ-RhoGEF.

                                               

ARID4B

This gene encodes a protein with sequence similarity to retinoblastoma-binding protein-1. The encoded protein is a subunit of the histone deacetylase-dependent SIN3A transcriptional corepressor complex, which functions in diverse cellular process ...

                                               

ARPC5

This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein en ...

                                               

ARV1

Acyl-coA acyltransferase-related enzyme 2 required for viability is a protein that in humans is encoded by the ARV1 gene. It is involved in lipid trafficking. ARV1 is ubiquitously expressed in higher eukaryotes, and in Saccharomyces cerevisiae ye ...

                                               

ATP1A2

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na + /K + -ATPases. Na + /K + -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemi ...

                                               

ATP1A4

Sodium/potassium-transporting ATPase subunit alpha-4 is an enzyme that in humans is encoded by the ATP1A4 gene. The protein encoded by this gene belongs to the family of p-type cation transport Attas, and to the subfamily of PA /K -ATPase. PA /K ...

                                               

ATP1B1

Sodium/potassium-transporting ATPase subunit beta-1 is an enzyme that in humans is encoded by the ATP1B1 gene. The protein encoded by this gene belongs to the family of Na /K and H /K ATPase protein beta-chain, and to the subfamily of PA /K -ATPa ...

                                               

ATP2B4

Plasma membrane calcium-transporting ATPase 4 is an enzyme that in humans is encoded by the ATP2B4 gene. The protein encoded by this gene belongs to the family of p-type primary ion transport Atpaz characterized by the formation of aspartyl phosp ...

                                               

ATP6V0B

V-type proton ATPase 21 kDa proteolipid subunit is an enzyme that in humans is encoded by the ATP6V0B gene. This gene encodes a component vacuolar ATPase V-ATPase, a multisubunit enzyme that mediates acidification of eukaryotic intracellular orga ...

                                               

ATP6V1G3

This gene encodes a component of vacuolar ATPase V-ATPase, a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as prote ...

                                               

ATP13A2

Probable cation-transporting ATPase 13A2 is an enzyme that in humans is encoded by the ATP13A2 gene that is involved in the transport of divalent transition metal cations. It appears to protect cells from manganese and zinc toxicity, possibly by ...

                                               

ATPAF1

This gene encodes an assembly factor for the F1 component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme asse ...

                                               

ATPase, Na+/K+ transporting, alpha 1

Sodium/potassium-transporting ATPase subunit alpha-1 is an enzyme that in humans is encoded by the ATP1A1 gene. The protein encoded by this gene belongs to the family of p-type cation transport Attas, and to the subfamily of PA /K -ATPase. PA /K ...

                                               

Atrial natriuretic peptide receptor

NPRA and NPRB are linked to guanylyl cyclases, while NPRC is G-protein-linked and is a "clearance receptor" that acts to internalise and destroy the ligand. Activation of the ANP catalytic receptor of ANP will stimulate guanylyl intracellular act ...

                                               

B4GALT2

Beta-1.4-galactosyltransferase 2 is an enzyme that in humans is encoded by the B4GALT2 gene. This gene is one of seven beta 1.4-galactosyltransferase genes beta4GalT. They encode a second type of membrane-bound glycoproteins, which seem to have e ...

                                               

B4GALT3

Beta-1.4-galactosyltransferase 3 is an enzyme that in humans is encoded by the B4GALT3 gene. This gene is one of seven beta 1.4-galactosyltransferase genes beta4GalT. They encode a second type of membrane-bound glycoproteins, which seem to have e ...

                                               

BCAR3

Breast tumors are initially dependent on estrogens for growth and progression and can be inhibited by anti-estrogens such as tamoxifen. However, breast cancers progress to become anti-estrogen resistant. Breast cancer anti-estrogen resistance gen ...

                                               

BCL9

BCL9, together with its paralogue gene BCL9L BCL9 like or BCL9.2, have been extensively studied for their role as transcriptional beta-catenin cofactors, fundamental for the transcription of Wnt target genes. Recent work using mouse MUS van And z ...

                                               

BRDT

Bromodomain testis-specific protein is a protein that in humans is encoded by the BRDT gene. It is a member of the Bromodomain and Extra-terminal motif protein family. BRDT is similar to the RING3 protein family. It possesses 2 bromodomain motifs ...

                                               

BRINP3

This gene is overexpressed in pituitary tumors but is underexpressed in tongue squamous cell carcinomas, ulcerative colitis, and peri-implantitis. Polymorphisms that increase expression of this gene have been shown to increase vascular inflammati ...