TBC1D4

Gene Information
 
Gene Symbol
TBC1D4
 
Aliases
AS160, NIDDM5
 
Entrez Gene ID
 
Gene Name
TBC1 domain family, member 4
 
Chromosomal Location
13q22.2
 
HGNC ID
 
Summary
 
GeneCards ID
 
UniGene
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein
Protein Information
 
Protein Name
TBC1 domain family member 4
 
Function
May act as a GTPase-activating protein for RAB2A, RAB8A, RAB10 and RAB14. Isoform 2 promotes insulin-induced glucose transporter SLC2A4/GLUT4 translocation at the plasma membrane, thus increasing glucose uptake
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00566 RabGAP-TBC Rab-GTPase-TBC domain
PF00640 PID Phosphotyrosine interaction domain (PTB/PID)
PF11830 DUF3350 Domain of unknown function (DUF3350)
 
OMIM

Associated Diseases

Diseases References
Hyperinsulinism 20011249, 20843777
Insulin resistance 20843777
   
References
 
Primary:

Changes in the expression of insulin signaling pathway molecules in endometria from polycystic ovary syndrome women with or without hyperinsulinemia.

Fornes Romina, Ormazabal Paulina, Rosas Carlos, Gabler Fernando, Vantman David, Romero Carmen, Vega Margarita
Laboratory of Endocrinology and Reproductive Biology, University of Chile Clinical Hospital, Santiago, Chile.
Mol Med. 2010 Mar;16(3-4):129-36. doi: 10.2119/molmed.2009.00118. Epub 2009 Dec
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
GLUT4 
Insulin resistance,hyperinsulinemia 
 
Rotterdam criteria, Androgen Excess Society criteria 
Related 
 
 In endometria from PCOS women with hyperinsulinemia, reduced levels of WAVE family proteins could compromise the cell surface GLUT4 exposure and the consequent glucose uptake in this tissue. 
GLUT4,IRS-1 
Hyperinsulinemia 
 
Rotterdam criteria, Androgen Excess Society criteria 
Related 
 
The diminished expression of GLUT4, as well as the lower level of pIRS-1Y612 and pAS160T642 exhibited by PCOSE-HI, suggests a disruption in the translocation of vesicles with GLUT4 to the cell surface in these patients. 

 

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