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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TBC1D17
TBC1 domain family member 17
Chromosome 19 · 19q13.33
NCBI Gene: 79735Ensembl: ENSG00000104946.15HGNC: HGNC:25699UniProt: Q9HA65
37PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of cilium assemblyprotein bindingretrograde transport, endosome to Golgicytosolneurodegenerative diseaseAbnormality of the skeletal systemheart failureheart disease
✦AI Summary

TBC1D17 is a Rab GTPase-activating protein that functions as a key regulator of vesicular trafficking and autophagy. It inhibits Rab8A/B function by reducing Rab8 recruitment to tubules from the endocytic recycling compartment and suppressing Rab8-mediated endocytic trafficking, including transferrin receptor recycling 1. Additionally, TBC1D17 acts as a GAP for Rab5, regulating glucose transporter (Glut1/Glut4) translocation and glucose uptake through an AMPK-dependent mechanism where AMPK phosphorylation of TBC1D17 at Ser168 enhances its auto-inhibition 2. TBC1D17 localizes to autophagosomes and inhibits autophagy flux in a catalytically-dependent manner 3. Mechanistically, TBC1D17 interacts with optineurin (OPTN) and active Rab8a to form ternary complexes that facilitate Rab inactivation 4. Under hypoxia, SUMOylated FIS1 interacts with TBC1D17 to suppress hypoxia-induced mitophagy 5. Dysregulation of TBC1D17 is implicated in glaucoma pathogenesis through impaired autophagy 67 and associated with vitiligo and myasthenia gravis through altered mitophagy and immune regulation 89. TBC1D17 thus represents a critical hub integrating metabolic, trafficking, and autophagic pathways relevant to multiple human diseases.

Sources cited
1
TBC1D17 inhibits Rab8A/B function and reduces Rab8-mediated endocytic trafficking of transferrin receptor
PMID: 22854040
2
TBC1D17 is a GAP for Rab5 regulating glucose uptake, and AMPK phosphorylates TBC1D17 at Ser168 to enhance its auto-inhibition
PMID: 34045668
3
TBC1D17 localizes to autophagosomes and inhibits autophagy flux in a catalytically-dependent manner, mediating E50K-OPTN-induced cell death
PMID: 24752605
4
TBC1D17 forms ternary complexes with optineurin and active Rab8a to facilitate Rab inactivation
PMID: 39374890
5
Under hypoxia, SUMOylated FIS1 interacts with TBC1D17 to suppress hypoxia-induced mitophagy
PMID: 39638786
6
TBC1D17-dependent impaired autophagy contributes to glaucoma pathogenesis through retinal ganglion cell death
PMID: 26302410
7
TBC1D17 interacts with optineurin and mediates vesicle trafficking and autophagy relevant to glaucoma
PMID: 29951055
8
TBC1D17 is identified as a hub mitophagy-related gene associated with immune infiltration in vitiligo
PMID: 37287971
9
TBC1D17 is identified as a causal protein biomarker associated with myasthenia gravis through proteomic analysis
PMID: 40919881
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.50Moderate
Abnormality of the skeletal systemOpen Targets
0.36Weak
heart failureOpen Targets
0.23Weak
heart diseaseOpen Targets
0.08Suggestive
atrial fibrillationOpen Targets
0.06Suggestive
congestive heart failureOpen Targets
0.05Suggestive
goutOpen Targets
0.03Suggestive
VitiligoOpen Targets
0.01Suggestive
type 2 diabetes mellitusOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
glioblastomaOpen Targets
0.01Suggestive
cutaneous melanomaOpen Targets
0.00Suggestive
gliomaOpen Targets
0.00Suggestive
migraine disorderOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
glaucomaOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TBC1D10CShared pathway100%FIS1Protein interaction100%OPTNProtein interaction97%GABARAPProtein interaction97%GABARAPL2Protein interaction97%GABARAPL1Protein interaction97%
Tissue Expression6 tissues
Ovary
100%
Liver
94%
Lung
70%
Heart
47%
Brain
44%
Bone Marrow
20%
Gene Interaction Network
Click a node to explore
TBC1D17TBC1D10CFIS1OPTNGABARAPGABARAPL2GABARAPL1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9HA65
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.11LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.91 [0.75–1.11]
RankingsWhere TBC1D17 stands among ~20K protein-coding genes
  • #10,706of 20,598
    Most Researched37
  • #11,404of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedTBC1D17
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
SENP3-FIS1 axis promotes mitophagy and cell survival under hypoxia.
PMID: 39638786
Cell Death Dis · 2024
1.00
2
Molecular Basis of the Recognition of the Active Rab8a by Optineurin.
PMID: 39374890
J Mol Biol · 2024
0.90
3
Altered Functions and Interactions of Glaucoma-Associated Mutants of Optineurin.
PMID: 29951055
Front Immunol · 2018
0.80
4
Defects in autophagy caused by glaucoma-associated mutations in optineurin.
PMID: 26302410
Exp Eye Res · 2016
0.70
5
AMPK-mediated phosphorylation enhances the auto-inhibition of TBC1D17 to promote Rab5-dependent glucose uptake.
PMID: 34045668
Cell Death Differ · 2021
0.60