TBC1D4 - TBC1 domain family member 4 Gene

Also Known as AS160; NIDDM5

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9882

About TBC1D4

Cytogenetic location: 13q22.2 Genomic coordinates (GRCh38): 13:75,283,503-75,482,169 (from NCBI)

This gene has 8 transcripts (splice variants), 200 orthologues, 45 paralogues and is associated with 1 phenotype. Ubiquitous expression in adrenal (RPKM 28.9), ovary (RPKM 15.3) and 23 other tissues.

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]

TBC1D4 Products (3)

mRNA Protein Name
NM_001286658.2 NP_001273587.1 TBC1 domain family member 4 isoform 2
NM_001286659.2 NP_001273588.1 TBC1 domain family member 4 isoform 3
NM_014832.5 NP_055647.2 TBC1 domain family member 4 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
15161933 GOA
Biological Process GO Annotation Evidence References Source
involved in cellular response to insulin stimulus IMP
IMP: Inferred from mutant phenotype
22908308 GOA
involved in vesicle-mediated transport IMP
IMP: Inferred from mutant phenotype
22908308 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TBC1D4 Protein Structure

PID

PID: Phosphotyrosine interaction domain (PTB/PID) (117 - 184)

PID

PID: Phosphotyrosine interaction domain (PTB/PID) (344 - 440)

DUF3350

DUF3350: Domain of unknown function (DUF3350) (801 - 864)

RabGAP-TBC

RabGAP-TBC: Rab-GTPase-TBC domain (924 - 1131)

  • 0
  • 200
  • 400
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  • 800
  • 1000
  • 1200
  • 1298 a.a.
Protein Preferred Names Protein Names

TBC1 domain family member 4

  • TBC (Tre-2, BUB2, CDC16) domain-containing protein

TBC1D4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TBC1D4 O60343 YWHAZ Homo sapiens P63104
Pull Down
15161933
Intra
TBC1D4 O60343 YWHAE Homo sapiens P62258
Crosslink
36931259
Intra
TBC1D4 O60343 YWHAE Homo sapiens P62258
Anti Tag CoIP
33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

TBC1D4 Antibodies

Cat. No. Product Name Application Reactivity
HY-P810680 Phospho-AS160 (Thr642) Antibody (YA9938) WB, ICC/IF Human, Mouse, Rat
HY-P82425 AS160 Antibody (YA2170) WB, IP Human
HY-P82425A AS160 Antibody (YA2170)(PBS only) WB, IP Human
HY-P86232 TBC1D4 Antibody (YA5924) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse

Related Diseases

Diseases Alias
Type 2 Diabetes 5

  • Diabetes Mellitus, Noninsulin-Dependent, 5

  • NIDDM5

  • T2D5

  • Diabetes Mellitus, Non-Insulin-Dependent, 5

  • Type 2 Diabetes Mellitus 5, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, Type 5
Type 2 Diabetes Mellitus

  • Insulin Resistance

  • NIDDM

  • Type 2 Diabetes

  • Diabetes Mellitus, Non-Insulin-Dependent

  • T2D

  • Noninsulin-Dependent Diabetes Mellitus

  • Diabetes Mellitus, Type Ii

  • Maturity-Onset Diabetes

  • Insulin Resistance, Severe, Digenic

  • Diabetes Mellitus, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent

  • Diabetes Mellitus, Noninsulin-Dependent, Association With

  • Diabetes Mellitus, Noninsulin-Dependent, Late Onset

  • Hypertension, Insulin Resistance-Related, Susceptibility To

  • Insulin Resistance, Susceptibility To

  • Non-Insulin-Dependent Diabetes Mellitus

  • Type Ii Diabetes Mellitus

  • Adult-Onset Diabetes Mellitus

  • Maturity-Onset Diabetes Mellitus

  • Diabetes Mellitus Type 2

  • Type Ii Diabetes

  • Type 2 Diabetes Mellitus, Susceptibility To

  • Diabetes, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 2, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, 2

  • Diabetes Mellitus, Type Ii, Susceptibility To

  • Hypertension, Insulin Resistance-Related

  • Adult-Onset Diabetes

  • Aodm

  • Diabetes Mellitus, Adult-Onset

  • Diabetes Mellitus Type Ii

  • Diabetes Mellitus Type 2, Susceptibility To

  • Diabetes, Type Ii, Susceptibility To

  • Diabetes Type 2

  • Diabetes Mellitus

  • Adult Onset Diabetes

  • Maturity Onset Diabetes

  • Nonketotic Diabetes

  • Non-Insulin Dependent Diabetes Mellitus

  • T2dm - [Type 2 Diabetes Mellitus]

  • Niddm - [Non Insulin Dependent Diabetes Mellitus]

  • Dm2

  • Dm Type Ii

  • Diabetic Type 2

  • Insulin Requiring Type 2 Diabetes

  • Noninsulin Dependent Diabetes

  • Non-Insulin-Dependent Diabetes Mellitus Without Complications

  • Diabetes Due To Insulin Secretory Defect

  • Diabetes Mellitus Due To Insulin Secretory Defect

  • Non-Insulin-Dependent Diabetes Of The Young

  • Senile Diabetes

  • Nonketotic Hyperglycaemia

  • Stable Diabetes
Acanthosis Nigricans

  • Keratosis Nigricans

  • An
Hyperinsulinism

  • Hyperinsulinemia
Donohue Syndrome

  • Leprechaunism

  • Leprechaunism Syndrome

  • Donohue'S Syndrome

  • LEPRCH
Diabetes Mellitus

  • Diabetes
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS14244 TBC1D4 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus TBC1D4 RGD RGD:1561609
Macaca mulatta TBC1D4 VGNC VGNC:78166
Canis familiaris TBC1D4 VGNC VGNC:47149
Felis catus TBC1D4 VGNC VGNC:65988
Mus musculus TBC1D4 MGD MGI:2429660
Bos taurus TBC1D4 VGNC VGNC:35644
Others TBC1D4 NCBI