TBC1D10C Gene - TBC1 Domain Family Member 10C
A Rab GTPase-activating protein involved in vesicle trafficking and immune regulation
Gene Information Card
| Symbol | TBC1D10C |
|---|---|
| Full Name | TBC1 domain family member 10C |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 374403 ncbi.nlm.nih.gov/gene/374403 |
| Ensembl ID | ENSG00000149131 |
| UniProt ID | Q8N5M1 |
| OMIM ID | 610808 |
| HGNC ID | 28791 |
| Aliases | EPI64C, FLJ22662, MGC13170 |
Description
TBC1D10C encodes a member of the TBC1 domain-containing family of Rab GTPase-activating proteins (RabGAPs). The protein localizes to endosomes and regulates endocytic trafficking by inactivating Rab proteins, particularly Rab35. It is involved in immune cell function, including T-cell receptor recycling and exosome secretion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency 104 (IMD104) | Loss-of-function mutations impair Rab35 regulation, leading to defective T-cell activation and immune deficiency | PMID: 32888943, ClinVar |
| Epileptic encephalopathy (suspected) | Rare variants may disrupt synaptic vesicle trafficking | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Whole blood | 8.2 | Medium |
| Brain | 3.1 | Low |
| Liver | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| Jurkat (T-cell) | 22.4 | High expression |
| HeLa | 9.8 | Medium expression |
| K562 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.232C>T (p.Arg78Trp) | Missense | <0.01% | Impaired RabGAP activity |
| c.487_489del (p.Lys163del) | Deletion | <0.01% | Altered protein stability |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in TBC1D10C disrupt Rab35 inactivation, leading to abnormal endosomal trafficking and immune dysfunction.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity (GO:0005096) | • endosomal transport (GO:0016197) |
| • endocytic recycling (GO:0032456) | • positive regulation of GTPase activity (GO:0043547) |
| • endosome (GO:0005768) |
Pathways
• Rab35 signaling pathway
• Endocytic recycling
• T-cell receptor recycling
Protein Summary
TBC1D10C is a 551-amino acid protein containing a TBC (Tre-2/Bub2/Cdc16) domain that functions as a Rab GTPase-activating protein (RabGAP). It specifically inactivates Rab35 by stimulating GTP hydrolysis, thereby regulating endosomal trafficking and recycling of membrane proteins. The protein is highly expressed in immune tissues and plays a critical role in T-cell activation and exosome biogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBC1D10C Knockout HEK293 Cell Line | EDJ-KQ15644 | Human | 374403 | Details Get a Quote |
| TBC1D10C Knockout HeLa Cell Line | EDJ-KQ59893 | Human | 374403 | Details Get a Quote |
| TBC1D10C Knockout A-549 Cell Line | EDJ-KQ68355 | Human | 374403 | Details Get a Quote |
| TBC1D10C Knockout HCT 116 Cell Line | EDJ-KQ76730 | Human | 374403 | Details Get a Quote |
