HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TBC1D15
TBC1 domain family member 15
Chromosome 12 · 12q21.1
NCBI Gene: 64786Ensembl: ENSG00000121749.17HGNC: HGNC:25694UniProt: A8K8E1
113PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of cilium assemblyprotein bindingmitochondrioncytosolschizophreniaintestinal diseasegastrointestinal diseasebrain aneurysm
✦AI Summary

TBC1D15 is a RAB7 GTPase-activating protein that regulates mitochondrial and lysosomal homeostasis through control of interorganellar contacts 1. Its primary function involves mediating RAB7 GTP hydrolysis at mitochondria-lysosome contact sites, promoting their untethering and enabling dynamic organellar communication 12. TBC1D15 recruits the mitochondrial fission protein Drp1 to contact sites via direct C-terminal interaction, facilitating asymmetrical mitochondrial fission and preserving mitochondrial function 3. Mechanistically, TBC1D15 acts through the FIS1/RAB7 cascade to regulate mitochondrial dynamics and mitophagy flux 2. Beyond mitochondrial fission, TBC1D15 interacts with PLIN5 to promote mitochondria-lipid droplet contacts, enhancing fatty acid β-oxidation 4, and regulates amino acid homeostasis at contact sites by maintaining active RAB7 5. Disease relevance is substantial: TBC1D15 levels decrease in myocardial ischemia/reperfusion injury and acute myocardial infarction, and overexpression provides cardioprotection by restoring mitochondrial function and reducing apoptosis 32. In Parkinson's disease, GBA1 dysfunction dysregulates TBC1D15-mediated contact untethering, disrupting mitochondrial distribution 6. Alzheimer's disease shows elevated microglial TBC1D15 that paradoxically inhibits protective autophagy 7. Additionally, TBC1D15 stabilizes NOTCH signaling to promote tumor-initiating cell self-renewal 8, suggesting oncogenic potential in certain contexts.

Sources cited
1
TBC1D15 is a RAB7 GTPase-activating protein that regulates mitochondrial and lysosomal homeostasis through control of interorganellar contacts .
PMID: 29364868
2
TBC1D15 recruits the mitochondrial fission protein Drp1 to contact sites via direct C-terminal interaction, facilitating asymmetrical mitochondrial fission and preserving mitochondrial function .
PMID: 35680100
3
Its primary function involves mediating RAB7 GTP hydrolysis at mitochondria-lysosome contact sites, promoting their untethering and enabling dynamic organellar communication ,.
PMID: 33042281
4
Beyond mitochondrial fission, TBC1D15 interacts with PLIN5 to promote mitochondria-lipid droplet contacts, enhancing fatty acid β-oxidation , and regulates amino acid homeostasis at contact sites by maintaining active RAB7 .
PMID: 40334909
5
Beyond mitochondrial fission, TBC1D15 interacts with PLIN5 to promote mitochondria-lipid droplet contacts, enhancing fatty acid β-oxidation , and regulates amino acid homeostasis at contact sites by maintaining active RAB7 .
PMID: 37467322
6
In Parkinson's disease, GBA1 dysfunction dysregulates TBC1D15-mediated contact untethering, disrupting mitochondrial distribution .
PMID: 33753743
7
Alzheimer's disease shows elevated microglial TBC1D15 that paradoxically inhibits protective autophagy .
PMID: 39812537
8
Additionally, TBC1D15 stabilizes NOTCH signaling to promote tumor-initiating cell self-renewal , suggesting oncogenic potential in certain contexts.
PMID: 38409448
Disease Associationsⓘ20
schizophreniaOpen Targets
0.31Weak
intestinal diseaseOpen Targets
0.27Weak
gastrointestinal diseaseOpen Targets
0.27Weak
brain aneurysmOpen Targets
0.25Weak
Alzheimer diseaseOpen Targets
0.25Weak
myocardial infarctionOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
smoking initiationOpen Targets
0.03Suggestive
risk-taking behaviourOpen Targets
0.03Suggestive
dilated cardiomyopathyOpen Targets
0.03Suggestive
gallbladder diseaseOpen Targets
0.03Suggestive
attention deficit hyperactivity disorderOpen Targets
0.03Suggestive
substance abuseOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
Pancreatic pseudocystOpen Targets
0.02Suggestive
kidney diseaseOpen Targets
0.02Suggestive
esophageal ulcerOpen Targets
0.02Suggestive
obesityOpen Targets
0.02Suggestive
Parkinson diseaseOpen Targets
0.02Suggestive
Neoplasm of the liverOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RABGAP1Shared pathway100%RAB7AProtein interaction99%TBC1D5Protein interaction98%OPTNProtein interaction98%GABARAPProtein interaction98%GABARAPL2Protein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
63%
Lung
61%
Ovary
49%
Liver
47%
Heart
47%
Gene Interaction Network
Click a node to explore
TBC1D15RABGAP1RAB7ATBC1D5OPTNGABARAPGABARAPL2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8TC07
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.63LoF Tolerant
pLIⓘ
0.09Tolerant
Observed/Expected LoF0.44 [0.31–0.63]
RankingsWhere TBC1D15 stands among ~20K protein-coding genes
  • #4,207of 20,598
    Most Researched113 · top quartile
  • #4,487of 17,882
    Most Constrained (LOEUF)0.63
Genes detectedTBC1D15
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mitochondria-lysosome contacts regulate mitochondrial fission via RAB7 GTP hydrolysis.
PMID: 29364868
Nature · 2018
1.00
2
TBC1D15-Drp1 interaction-mediated mitochondrial homeostasis confers cardioprotection against myocardial ischemia/reperfusion injury.
PMID: 35680100
Metabolism · 2022
0.90
3
TBC1D15/RAB7-regulated mitochondria-lysosome interaction confers cardioprotection against acute myocardial infarction-induced cardiac injury.
PMID: 33042281
Theranostics · 2020
0.80
4
Dysregulation of mitochondria-lysosome contacts by GBA1 dysfunction in dopaminergic neuronal models of Parkinson's disease.
PMID: 33753743
Nat Commun · 2021
0.70
5
Parkin regulates amino acid homeostasis at mitochondria-lysosome (M/L) contact sites in Parkinson's disease.
PMID: 37467322
Sci Adv · 2023
0.60