Homo sapiens Protein: TBC1D4
Summary
InnateDB Protein IDBP-38220.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TBC1D4
Protein Name TBC1 domain family, member 4
Synonyms AS160;
Species Homo sapiens
Ensembl Protein ENSP00000366863
InnateDB Gene IDBG-38218 (TBC1D4)
Protein Structure
UniProt Annotation
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. {ECO:0000269PubMed:15971998, ECO:0000269PubMed:18771725, ECO:0000269PubMed:22908308}.
Subcellular Localization Cytoplasm {ECO:0000269PubMed:18771725}. Note=Isoform 2 shows a cytoplasmic perinuclear localization in a myoblastic cell line in resting and insulin-stimulated cells.
Disease Associations
Tissue Specificity Widely expressed. Isoform 2 is the highest overexpressed in most tissues. Isoform 1 is highly expressed in skeletal muscle and heart, but was not detectable in the liver nor in adipose tissue. Isoform 2 is strongly expressed in adrenal and thyroid gland, and also in lung, kidney, colon, brain and adipose tissue. Isoform 2 is moderately expressed in skeletal muscle. Expressed in pancreatic Langerhans islets, including beta cells (at protein level). Expression is decreased by twofold in pancreatic islets in type 2 diabetes patients compared to control subjects. Up-regulated in T-cells from patients with atopic dermatitis. {ECO:0000269PubMed:15304337, ECO:0000269PubMed:18276765, ECO:0000269PubMed:18771725}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 28 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 28 [view]
Protein-Protein 28 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005097 Rab GTPase activator activity
GO:0005515 protein binding
Biological Process
GO:0016192 vesicle-mediated transport
GO:0031339 negative regulation of vesicle fusion
GO:0032313 regulation of Rab GTPase activity
GO:0032851 positive regulation of Rab GTPase activity
GO:0032869 cellular response to insulin stimulus
GO:0061024 membrane organization
Cellular Component
GO:0005737 cytoplasm
GO:0030659 cytoplasmic vesicle membrane
GO:0031988 membrane-bounded vesicle
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR000195 Rab-GTPase-TBC domain
IPR006020 PTB/PI domain
IPR021785 Protein of unknown function DUF3350
PFAM PF00566
PF00640
PF14719
PF11830
PRINTS
PIRSF
SMART SM00164
SM00462
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O60343
PhosphoSite PhosphoSite-O60343
TrEMBL
UniProt Splice Variant
Entrez Gene 9882
UniGene Hs.703023
RefSeq NP_055647
HUGO HGNC:19165
OMIM 612465
CCDS CCDS41901
HPRD 18164
IMGT
EMBL AB011175 AB449885 AK300468 AK304091 AL139230 AL162571 BC151239 CR749622 FM207106 FM207107
GenPept AAI51240 BAA25529 BAG62187 BAG64997 BAH16628 CAH18416 CAH70991 CAI39591 CAR62509 CAR62510