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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TBC1D13
TBC1 domain family member 13
Chromosome 9 Β· 9q34.11
NCBI Gene: 54662Ensembl: ENSG00000107021.18HGNC: HGNC:25571UniProt: A0A024R8C8
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingregulation of cilium assemblyintracellular protein transportGTPase activator activityneurodegenerative diseasehypothyroidismmelanomaneoplasm
✦AI Summary

TBC1D13 is a GTPase-activating protein (GAP) that specifically regulates RAB35, a small GTPase involved in intracellular trafficking. Its primary function is to catalyze GTP hydrolysis on RAB35, converting it to its inactive GDP-bound state 1. TBC1D13 plays a crucial role in insulin-stimulated glucose transporter GLUT4 translocation to the plasma membrane in adipocytes. When TBC1D13 is overexpressed, it inhibits insulin-stimulated GLUT4 translocation by inactivating RAB35; conversely, constitutively active RAB35 can bypass this inhibition 1. TBC1D13 functions as part of a larger regulatory network where Retromer acts as a hub for coordinating RAB GTPase switching, recruiting TBC1D13 to regulate retrieval sub-domain function in endosomal recycling 2. TBC1D13 is part of an Akt-targeted family of RAB GAPs (TBC1D1, TBC1D4, TBC1D13) that regulate multiple RAB GTPases downstream in insulin signaling pathways controlling GLUT4 trafficking 3. Dysregulation of TBC1D13 may have disease implications, as it has been identified as a tumor-associated antigen with autoantibodies detected in hepatocellular carcinoma patients 4, suggesting potential roles in cancer-related metabolic alterations.

Sources cited
1
TBC1D13 is a RAB35-specific GAP that inhibits insulin-stimulated GLUT4 translocation in adipocytes
PMID: 22762500
2
TBC1D13 is recruited by Retromer to regulate RAB35 and retrieval sub-domain function
PMID: 40738907
3
TBC1D13 is part of Akt-targeted RAB GAPs involved in GLUT4 translocation
PMID: 28602209
4
TBC1D13 is identified as a tumor-associated antigen with autoantibodies in hepatocellular carcinoma
PMID: 34821436
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.26Weak
hypothyroidismOpen Targets
0.08Suggestive
melanomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.00Suggestive
cutaneous melanomaOpen Targets
0.00Suggestive
posterior cortical atrophyOpen Targets
0.00Suggestive
leiomyomaOpen Targets
0.00Suggestive
Insulin resistanceOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
colorectal adenocarcinomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
head and neck squamous cell carcinomaOpen Targets
0.00Suggestive
Hereditary breast cancerOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
sarcomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
KYAT1Protein interaction94%ENDOGProtein interaction94%SPOUT1Protein interaction94%NCKIPSDProtein interaction77%RAB35Protein interaction71%TBC1D3Shared pathway50%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
94%
Ovary
89%
Brain
77%
Liver
75%
Lung
65%
Gene Interaction Network
Click a node to explore
TBC1D13KYAT1ENDOGSPOUT1NCKIPSDRAB35TBC1D3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9NVG8
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.95LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.73 [0.57–0.95]
RankingsWhere TBC1D13 stands among ~20K protein-coding genes
  • #16,326of 20,598
    Most Researched13
  • #8,952of 17,882
    Most Constrained (LOEUF)0.95
Genes detectedTBC1D13
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Mapping of endosomal proximity proteomes reveals Retromer as a hub for RAB GTPase regulation.
PMID: 40738907
Nat Commun Β· 2025
1.00
2
Update on GLUT4 Vesicle Traffic: A Cornerstone of Insulin Action.
PMID: 28602209
Trends Endocrinol Metab Β· 2017
0.75
3
TBC1D13 is a RAB35 specific GAP that plays an important role in GLUT4 trafficking in adipocytes.
PMID: 22762500
Traffic Β· 2012
0.50
4
A novel immunodiagnosis panel for hepatocellular carcinoma based on bioinformatics and the autoantibody-antigen system.
PMID: 34821436
Cancer Sci Β· 2022
0.25