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SRA1

Steroid receptor RNA activator 1 also known as steroid receptor RNA activator protein is a protein that in humans is encoded by the SRA1 gene. The mRNA transcribed from the SRA1 gene is a component of the ribonucleoprotein complex containing NCOA ...

SRD5A1

3-oxo-5α-steroid 4-dehydrogenase 1 is an enzyme that in humans is encoded by the SRD5A1 gene. It is one of three forms of 5α-reductase. Steroid 5α-reductase EU 1.3.99.5 catalyzes the transformation of testosterone into more potent androgen, dihyd ...

ST8SIA4

CMP-N-acetylneuraminate-poly-alpha-2.8-sialyltransferase is an enzyme that in humans is encoded by the ST8SIA4 gene. The protein encoded by this gene catalyzes the polycondensation of alpha-2.8-linked sialic acid required for the synthesis of pol ...

STARD4

StAR-related lipid transfer protein 4 is a soluble protein involved in cholesterol transport. It can transfer up to 7 sterol molecules per minute between artificial membranes.

STC2

Stanniocalcin-2 is a protein that in humans is encoded by the STC2 gene. This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The encoded protein 10 o ...

STK10

Serine/threonine-protein kinase 10 is an enzyme that in humans is encoded by the STK10 gene. This gene encodes a member of the Ste20 family of serine / threonine protein kinases, and is similar to several known Polo-like kinase kinases. Protein c ...

SUB1

Activated RNA polymerase II transcriptional coactivator p15 also known as positive cofactor 4 or SUB1 homolog is a protein that in humans is encoded by the SUB1 gene. The human SUB1 gene is named after an orthologous gene in yeast. SUB1-induced o ...

Sulfate transporter

The sulfate transporter is a solute carrier family protein that in humans is encoded by the SLC26A2 gene. SLC26A2 is also called the diastrophic dysplasia sulfate transporter, and was first described by Hastbacka et al. in 1994. This sulfate tran ...

SYNPO

Synaptopodin is an actin-associated protein that may play a role in actin-based cell shape and motility. The name synaptopodin derives from the proteins associations with postsynaptic densities and dendritic spines and with renal podocytes Mundel ...

TAF7

The intronless gene for this transcription coactivator is located between the protocadherin beta and gamma gene clusters on chromosome 5. The protein encoded by this gene is a component of the TFIID protein complex, a complex which binds to the T ...

TAF9

TAF9 RNA polymerase II, TATA box binding protein -associated factor, 32kDa, also known as TAF9, is a protein that in humans is encoded by the TAF9 gene.

TARS (gene)

Threonyl-tRNA synthetase, cytoplasmic is an enzyme that in humans is encoded by the TARS gene. Aminoacyl tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their Central role in linking amino acids with n ...

TBCA

Tubulin-specific chaperone A is a protein that in humans is encoded by the TBCA gene. The product of this gene is one of the four protein cofactors A, D, E, and C involved in the pathway leading to correctly folded beta-tubulin from folding inter ...

Thrombospondin 4

Thrombospondin-4 is a protein that in humans is encoded by the THBS4 gene. The protein encoded by this gene belongs to the thrombospondin protein family. Thrombospondin family members are adhesive glycoproteins that mediate intercellular and cell ...

TIMD4

T-cell immunoglobulin and mucin domain containing 4 also known as T-cell membrane protein 4 is a protein in humans that is encoded by the TIMD4 gene. TIM-4 genes are in mouse present on chromosome 11B1.1 and in humans on chromosome 5q33.2. TIM-4 ...

TLX3

T-cell leukemia homeobox protein 3 is a protein that in humans is encoded by the TLX3 gene. RNX HOX11L2, TLX3 belong to the gene family of orphan homeobox that encode DNA-binding nuclear transcription factors. Members of the HOX11 gene family are ...

TMCO6

Transmembrane and coiled-coil domain 6, TMCO6, is a protein that in humans is encoded by the TMCO6 gene with aliases of PRO1580, HQ1580 or FLJ39769.1.

TNFAIP8

Tumor necrosis factor, alpha-induced protein 8 is a protein that in humans is encoded by the TNFAIP8 gene. It is preferentially expressed in human immune cell types.

TNIP1

Genetic variations within the region of the TNIP1 gene have been shown to have association with several autoimmune diseases: Systemic Sclerosis. (Системная Склеродермия) Psoriatic arthritis. (Псориатический артрит) Psoriasis. (Псориаз) Systemic L ...

TPPP

Tubulin polymerization-promoting protein is a protein that in humans is encoded by the TPPP gene. This protein has been associated with multiple sclerosis myelin lesions and abnormalities in CSF in patients with multiple sclerosis. It has also be ...

Transcription elongation regulator 1

This gene encodes a nuclear protein that regulates transcriptional elongation and pre-mRNA splicing. The encoded protein interacts with the hyperphosphorylated C-terminal domain of RNA polymerase II via multiple FF domains, and with the pre-mRNA ...

Transportin 1

This protein is a karyopherin which interacts with nuclear localization sequence to target nuclear proteins to the nucleus. The classical karyopherin receptor complex, such as the complex that uses Importin-β1 encoded by gene KPNB1, is a heterodi ...

Treacle protein

Treacle protein is a protein that in humans is encoded by the TCOF1 gene. This gene encodes a nucleolar protein with a LIS1 homology domain. Protein involved in transcription of genes of ribosomal DNA due to its interaction with the upstream limi ...

TRIM23

The protein encoded by this gene is a member of the tripartite motif TRIM family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein is also a member of the ADP ri ...

TRIP13

TRIP13 is a mammalian gene that encodes the thyroid receptor-interacting protein 13. In budding yeast, the analog for TRIP13 is PCH2. TRIP13 is a member of the AAA+ ATPase family, a family known for mechanical forces derived from ATP hydrolase re ...

UBE2B

Ubiquitin-conjugating enzyme E2 B is a protein that in humans is encoded by the UBE2B gene. Modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination ...

UBE2D2

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiqui ...

UNC5A

Netrin receptor UNC5A is a protein that in humans is encoded by the UNC5A gene. UNC5A belongs to a family of netrin-1 MIM 601614 receptors involved in chemorepulsive effect of netrin-1 on specific axons. For more information on UNC5 proteins, see ...

UQCRQ

Ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa is a protein that in humans is encoded by the UQCRQ gene. This ubiqinone-binding protein is a subunit of mitochondrial Complex III in the electron transport chain. A mutation in th ...

WDR36

WD repeat-containing protein 36 is a protein that in humans is encoded by the WDR36 gene. This gene encodes a member of the WD repeat protein family. WD repeats are minimally conservative regions of approximately 40 amino acids, usually enclosed ...

WNT8A

Protein Wnt-8a is a protein that in humans is encoded by the WNT8A gene. Wnt8a may be involved in development of early embryos as well as germ cell tumors.

WWC1

Protein KIBRA also known as kidney and brain expressed protein or WW domain-containing protein 1 is a protein that in humans is encoded by the WWC1 gene.

ZFYVE16

Zinc finger FYVE domain-containing protein 16 is a protein that in humans is encoded by the ZFYVE16 gene. The ZFYVE16 gene encodes endofin, endosomal protein that is involved in the regulation of membrane trafficking. It is characterized by the p ...

7SK RNA

In molecular biology 7SK is an abundant small nuclear RNA found in metazoans. It plays a role in regulating transcription by controlling the positive transcription elongation factor P-TEFb. 7SK is found in a small nuclear ribonucleoprotein comple ...

AARS2

Alanyl - tRNA synthetase, mitochondrial, also known as alanine - tRNA ligase or alanyl - tRNA synthetase 2, is an enzyme that in humans is encoded by the AARS2 gene.

Acetyl-CoA C-acetyltransferase

In enzymology, an acetyl-CoA C-acetyltransferase is an enzyme that catalyzes the chemical reaction 2 acetyl-CoA ⇌ {\displaystyle \rightleftharpoons } CoA + acetoacetyl-CoA Hence, this enzyme has one substrate, acetyl-COA, and two products, COA an ...

Afadin

Afadin is a Ras see HRAS, MIM 190020 target that regulates cell–cell adhesions downstream of Ras activation. It is fused with MLL MIM 159555 in leukemias caused by t6.11 translocations Taya et al., 1998.

AGPAT1

1-acyl-sn-glycerol-3-phosphate acyltransferase alpha is an enzyme that in humans is encoded by the AGPAT1 gene. This gene encodes an enzyme that converts lysophosphatidic acid LPA to phosphatidic acid PA. LPA and PA are two phospholipids involved ...

AHI1

The Abelson helper integration site 1 is a protein coding gene that is known for the critical role it plays in brain development. Proper cerebellar and cortical development in the human brain depends heavily on AHI1. The AHI1 gene is prominently ...

AKAP7

This gene encodes a member of the A-kinase anchoring protein AKAP family, a group of functionally related proteins that bind to a regulatory subunit RII of cAMP-dependent protein kinase A PKA and target the enzyme to specific subcellular compartm ...

AKAP12

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 ...

Aldehyde dehydrogenase 5 family, member A1

This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD + -dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error ...

ALDH8A1

This protein belongs to the aldehyde dehydrogenase family of enzymes. It was originally thought to play a role in a pathway of 9-cis-retinoic acid biosynthesis in vivo. However, bioinformatics and experimental work has shown that it is more likel ...

ANKS1A

Ankyrin repeat and SAM domain-containing protein 1A, also known as ODIN, is a protein that in humans is encoded by the ANKS1A gene on chromosome 6. It is widely expressed in many tissues and cell types. One is known to regulate receptor epidermal ...

APOM

Apolipoprotein M is a protein that in humans is encoded by the APOM gene. The protein encoded by this gene is an apolipoprotein and member of lipocalin family protein. Installed related to high density lipoproteins and to a lesser extent with low ...

ARG1 (gene)

Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist types I and II which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic ...

ASF1A

This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The protein is a key component of a histone donor complex that functions in nucleosome assembly. It intera ...

ATG5

Autophagy related 5 is a protein that, in humans, is encoded by the ATG5 gene located on Chromosome 6. It is an E3 ubi autophagic cell death. ATG5 is a key protein involved in the extension of the phagophoric membrane in autophagic vesicles. It i ...

B3GALT4

Beta-1.3-galactosyltransferase 4 is an enzyme that in humans is encoded by the B3GALT4 gene. This gene is a member of the beta-1.3-galactosyltransferase gene beta3GalT family. Family, encodes a second type of membrane-bound glycoproteins with dif ...

B3GAT2

Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2 is an enzyme that in humans is encoded by the B3GAT2 gene. The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the tr ...