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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TBC1D3
TBC1 domain family member 3
Chromosome 17 · 17q12
NCBI Gene: 729873Ensembl: ENSG00000274611.5HGNC: HGNC:19031UniProt: Q6IPX1
26PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Oncogene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of cilium assemblyGTPase activator activityearly endosome membraneplasma membraneAbnormality of the skeletal systemneurodegenerative diseasemajor depressive disorderbreast cancer
✦AI Summary

TBC1D3 is a hominoid-specific gene family that acts as a GTPase activating protein for RAB5 and plays critical roles in neuronal development and cellular signaling. The gene has undergone extensive duplication during primate evolution, with humans showing high copy number variation (up to 20 copies) clustered on chromosome 17 1. In cortical development, TBC1D3 promotes the generation of outer radial glial cells and basal neural progenitors, contributing to cortical expansion and folding characteristic of primate brains 2. The protein regulates synaptic maturation timing through interaction with MICAL1, promoting dendritic arborization early in development while later translocating to the nucleus to suppress synaptic maturation genes via chr17 remodeling 3. TBC1D3 also modulates insulin/IGF-1 signaling by preventing IRS-1 degradation through PP2A activation and p70 S6 kinase suppression 4. Additionally, it promotes cancer cell migration by enhancing MMP-9 expression, with its stability regulated by calmodulin-mediated protection from ubiquitination 5. The protein exhibits high intrinsic disorder, facilitating protein-protein interactions and post-translational modifications 6.

Sources cited
1
TBC1D3 is primate-specific with extensive human copy number variation up to 20 copies on chromosome 17q12
PMID: 39107043
2
TBC1D3 promotes outer radial glia generation and cortical folding in brain development
PMID: 27504805
3
TBC1D3 regulates synaptic maturation timing through MICAL1 interaction and chromatin remodeling
PMID: 39052482
4
TBC1D3 modulates insulin signaling by preventing IRS-1 degradation via PP2A and p70 S6 kinase
PMID: 22348058
5
TBC1D3 promotes cancer cell migration and MMP-9 expression, stabilized by calmodulin
PMID: 28422741
6
TBC1D3 protein exhibits high intrinsic disorder facilitating protein interactions
PMID: 32880174
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.28Weak
neurodegenerative diseaseOpen Targets
0.27Weak
major depressive disorderOpen Targets
0.20Weak
breast cancerOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.03Suggestive
Bartsocas-Papas syndrome 1Open Targets
0.02Suggestive
prostate cancerOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.01Suggestive
renal cysts and diabetes syndromeOpen Targets
0.01Suggestive
triple-negative breast cancerOpen Targets
0.01Suggestive
prostate neoplasmOpen Targets
0.01Suggestive
small cell lung carcinomaOpen Targets
0.01Suggestive
heart failureOpen Targets
0.00Suggestive
nail-patella syndromeOpen Targets
0.00Suggestive
posterior cortical atrophyOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
pseudotumor cerebriOpen Targets
0.00Suggestive
thyroid carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TBC1D1Shared pathway100%TBC1D22AShared pathway100%TBC1D19Shared pathway100%TBC1D22BShared pathway100%TBC1D16Shared pathway100%USP32Protein interaction92%
Tissue Expression6 tissues
Bone Marrow
0%
Liver
0%
Ovary
0%
Lung
0%
Brain
0%
Heart
0%
Gene Interaction Network
Click a node to explore
TBC1D3TBC1D1TBC1D22ATBC1D19TBC1D22BTBC1D16USP32
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q6IPX1
View on AlphaFold ↗
RankingsWhere TBC1D3 stands among ~20K protein-coding genes
  • #12,896of 20,598
    Most Researched26
Genes detectedTBC1D3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Independent expansion, selection, and hypervariability of the
PMID: 39107043
Genome Res · 2024
1.00
2
Independent expansion, selection and hypervariability of the
PMID: 38654825
bioRxiv · 2024
0.90
3
Intrinsic Disorder in Human Proteins Encoded by Core Duplicon Gene Families.
PMID: 32880174
J Phys Chem B · 2020
0.80
4
The hominoid-specific gene TBC1D3 promotes generation of basal neural progenitors and induces cortical folding in mice.
PMID: 27504805
Elife · 2016
0.70
5
TBC1D3, a hominoid-specific gene, delays IRS-1 degradation and promotes insulin signaling by modulating p70 S6 kinase activity.
PMID: 22348058
PLoS One · 2012
0.60