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TBC1D4

GENERAL INFORMATION

Gene name

 TBC1D4

Gene description

 TBC1 domain family, member 4

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Cell line enhanced (CACO-2)
HPA (normal tissue):Expressed in all

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Cytoplasmic expression in most tissues.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data. Pending external verification.

Reliability score

 Approved based on 2 antibodies.
HPA040145 , HPA059885
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PROGNOSTIC SUMMARY
Prognostic marker in renal cancer (favourable).
Renal cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer

STAINING SUMMARY
HPA040145
HPA059885

GENE INFORMATION

Gene name

 TBC1D4 (HGNC Symbol)

Synonyms

 AS160, DKFZp779C0666, KIAA0603

Description

 TBC1 domain family, member 4 (HGNC Symbol)

Entrez gene summary

 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. [provided by RefSeq, Aug 2015]

Chromosome

 13

Cytoband

 q22.2

Chromosome location (bp)

 75284665 - 75482114

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000136111 (version 83.38)

Entrez gene

 9882

UniProt

 O60343 (UniProt - Evidence at protein level)

neXtProt

 NX_O60343

Antibodypedia

 TBC1D4 antibodies

PROTEIN BROWSER
TBC1D4-001
TBC1D4-004
TBC1D4-201
TBC1D4-202

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
TBC1D4-001
ENSP00000366863
ENST00000377636
O60343 [Direct mapping]
TBC1 domain family member 4
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   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005096 [GTPase activator activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0016192 [vesicle-mediated transport]
GO:0030659 [cytoplasmic vesicle membrane]
GO:0031339 [negative regulation of vesicle fusion]
GO:0031988 [membrane-bounded vesicle]
GO:0032869 [cellular response to insulin stimulus]
GO:0043547 [positive regulation of GTPase activity]
GO:0061024 [membrane organization]
GO:0070062 [extracellular exosome]
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 1298 aa
146.6 kDa 		No 0
TBC1D4-004
ENSP00000396932
ENST00000413735
Q5JU47 [Direct mapping]
TBC1 domain family member 4
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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 282 aa
31.3 kDa 		No 0
TBC1D4-201
ENSP00000366852
ENST00000377625
O60343 [Direct mapping]
TBC1 domain family member 4
Show all
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005096 [GTPase activator activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0016192 [vesicle-mediated transport]
GO:0030659 [cytoplasmic vesicle membrane]
GO:0032869 [cellular response to insulin stimulus]
GO:0043547 [positive regulation of GTPase activity]
GO:0061024 [membrane organization]
GO:0070062 [extracellular exosome]
Show all
 1235 aa
139.6 kDa 		No 0
TBC1D4-202
ENSP00000395986
ENST00000431480
O60343 [Direct mapping]
TBC1 domain family member 4
Show all
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005096 [GTPase activator activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0016192 [vesicle-mediated transport]
GO:0030659 [cytoplasmic vesicle membrane]
GO:0032869 [cellular response to insulin stimulus]
GO:0043547 [positive regulation of GTPase activity]
GO:0061024 [membrane organization]
GO:0070062 [extracellular exosome]
Show all
 1290 aa
145.7 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.