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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TBC1D1
TBC1 domain family member 1
Chromosome 4 · 4p14
NCBI Gene: 23216Ensembl: ENSG00000065882.18HGNC: HGNC:11578UniProt: A0A8V8TNS9
67PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleolusprotein bindingregulation of cilium assemblyGTPase activator activitycongenital anomaly of kidney and urinary tractneurodegenerative diseasesecondary malignant neoplasmhead and neck malignant neoplasia
✦AI Summary

TBC1D1 is a Rab GTPase-activating protein that regulates glucose transport and metabolic processes in skeletal muscle. Functionally, TBC1D1 controls GLUT4-containing vesicle trafficking and translocation to the cell membrane, facilitating insulin-stimulated glucose uptake 1. The protein is phosphorylated at distinct sites in response to different stimuli: Akt-mediated phosphorylation occurs with insulin signaling, while AMPK-dependent phosphorylation at Ser237 is triggered by exercise 2. Phosphorylation enhances TBC1D1's binding capacity to 14-3-3 regulatory proteins, modulating its GTPase activity 2. Clinically, TBC1D1 dysfunction is associated with metabolic disease. Polymorphisms in TBC1D1, particularly p.R125W, are linked to increased BMI and obesity risk 3. In type 2 diabetes, impaired insulin-stimulated phosphorylation of TBC1D1 accompanies dysregulated glucose uptake in skeletal muscle 4. Beyond metabolism, elevated TBC1D1 expression in macrophages promotes an immunosuppressive tumor microenvironment and correlates with poor prognosis and immunotherapy resistance in gliomas 5. Recent evidence suggests TBC1D1 may serve as a hub gene linking erectile dysfunction and depression through shared mechanisms involving vascular and muscle cell biology 6. These findings position TBC1D1 as a therapeutic target for metabolic disease and cancer immunotherapy resistance.

Sources cited
1
TBC1D1 is a Rab GTPase-activating protein regulating GLUT4 translocation and glucose transport in skeletal muscle
PMID: 25280670
2
Exercise induces TBC1D1 Ser237 phosphorylation via AMPK, enhancing 14-3-3 protein binding capacity
PMID: 20837646
3
TBC1D1 polymorphisms, including p.R125W, are associated with BMI and obesity risk
PMID: 23374713
4
Type 2 diabetes patients show impaired insulin-stimulated TBC1D1 phosphorylation associated with dysregulated glucose uptake
PMID: 23752133
5
Elevated TBC1D1 expression in macrophages promotes immunosuppression and immunotherapy resistance in gliomas
PMID: 38529286
6
TBC1D1 is identified as a hub crosslink gene between erectile dysfunction and depression with roles in vascular morphogenesis
PMID: 38111702
Disease Associationsⓘ20
congenital anomaly of kidney and urinary tractOpen Targets
0.45Moderate
neurodegenerative diseaseOpen Targets
0.36Weak
head and neck malignant neoplasiaOpen Targets
0.29Weak
secondary malignant neoplasmOpen Targets
0.29Weak
osteitis deformansOpen Targets
0.29Weak
clonal hematopoiesisOpen Targets
0.29Weak
joint diseaseOpen Targets
0.26Weak
rheumatic diseaseOpen Targets
0.24Weak
smoking initiationOpen Targets
0.24Weak
Genu valgumOpen Targets
0.23Weak
Genu varumOpen Targets
0.23Weak
central nervous system cancerOpen Targets
0.22Weak
ileostomyOpen Targets
0.21Weak
poisoningOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
congenital hydronephrosisOpen Targets
0.12Weak
urinary system diseaseOpen Targets
0.12Weak
gliomaOpen Targets
0.09Suggestive
hypertensionOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TBC1D3Shared pathway100%TBC1D16Shared pathway100%TBC1D22BShared pathway100%TBC1D19Shared pathway100%TBC1D22AShared pathway100%PRKAG3Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Lung
66%
Brain
56%
Bone Marrow
49%
Ovary
38%
Liver
35%
Gene Interaction Network
Click a node to explore
TBC1D1TBC1D3TBC1D16TBC1D22BTBC1D19TBC1D22APRKAG3
PROTEIN STRUCTURE
Preparing viewer…
PDB3QYE · 2.20 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.86LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.72 [0.60–0.86]
RankingsWhere TBC1D1 stands among ~20K protein-coding genes
  • #7,022of 20,598
    Most Researched67
  • #7,517of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedTBC1D1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Novel prognostic biomarker TBC1D1 is associated with immunotherapy resistance in gliomas.
PMID: 38529286
Front Immunol · 2024
1.00
2
The TBC1D1 gene: structure, function, and association with obesity and related traits.
PMID: 23374713
Vitam Horm · 2013
0.90
3
Roles of TBC1D1 and TBC1D4 in insulin- and exercise-stimulated glucose transport of skeletal muscle.
PMID: 25280670
Diabetologia · 2015
0.80
4
Exploring potential genes and mechanisms linking erectile dysfunction and depression.
PMID: 38111702
Front Endocrinol (Lausanne) · 2023
0.70
5
Sustained AS160 and TBC1D1 phosphorylations in human skeletal muscle 30 min after a single bout of exercise.
PMID: 24876356
J Appl Physiol (1985) · 2014
0.60