QuickView for AS160 (gene)

Gene Symbol:

TBC1D4 Homo sapiens

Full name:

TBC1 domain family member 4

Synonyms:

AS160, NIDDM5, TBC1 domain family member 4, TBC (Tre-2, BUB2, CDC16) domain-containing protein, akt substrate of 160 kDa

Genomic Location:

Chr 13: 74756810-74954251

Description:

This gene is a member of the Tre-2/BUB2/CDC16 domain family. The protein encoded by this gene is a Rab-GTPase-activating protein, and contains two phopshotyrosine-binding domains (PTB1 and PTB2), a calmodulin-binding domain (CBD), a Rab-GTPase domain, and multiple AKT phosphomotifs. This protein is thought to play an important role in glucose homeo...

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This gene is a member of the Tre-2/BUB2/CDC16 domain family. The protein encoded by this gene is a Rab-GTPase-activating protein, and contains two phopshotyrosine-binding domains (PTB1 and PTB2), a calmodulin-binding domain (CBD), a Rab-GTPase domain, and multiple AKT phosphomotifs. This protein is thought to play an important role in glucose homeostasis by regulating the insulin-dependent trafficking of the glucose transporter 4 (GLUT4), important for removing glucose from the bloodstream into skeletal muscle and fat tissues. Reduced expression of this gene results in an increase in GLUT4 levels at the plasma membrane, suggesting that this protein is important in intracellular retention of GLUT4 under basal conditions. When exposed to insulin, this protein is phosphorylated, dissociates from GLUT4 vesicles, resulting in increased GLUT4 at the cell surface, and enhanced glucose transport. Phosphorylation of this protein by AKT is required for proper translocation of GLUT4 to the cell surface. Individuals homozygous for a mutation in this gene are at higher risk for type 2 diabetes and have higher levels of circulating glucose and insulin levels after glucose ingestion. Alternative splicing results in multiple transcript variants encoding different isoforms.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGAATGT_MIR181A_MIR181B_MIR181C_MIR181D ,  TACTTGA_MIR26A_MIR26B ,  ATGTACA_MIR493

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-138 ,  Predicted Gene Targets for miR-181 ,  Predicted Gene Targets for miR-23 ,  Predicted Gene Targets for miR-26 ,  Predicted Gene Targets for miR-433-3p ,  Predicted Gene Targets for miR-9 ,  Predicted Gene Targets for miR-376c ,  Predicted Gene Targets for miR-493-5p

Cytogenetic Map:

13q22.2

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