TBC1D10A: TBC1 Domain Family Member 10A
A Rab GTPase-activating protein involved in vesicular trafficking and immune regulation
Gene Information Card
| Symbol | TBC1D10A |
|---|---|
| Full Name | TBC1 domain family member 10A |
| Gene Type | Protein coding |
| Chromosomal Location | 2p24.1 |
| NCBI Gene ID | 83874 ncbi.nlm.nih.gov/gene/83874 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q9BXI6 |
| OMIM ID | 610020 |
| HGNC ID | 29008 |
| Aliases | EPI64, TBC1D10, FLJ12650 |
Description
TBC1D10A (TBC1 domain family member 10A) encodes a Rab GTPase-activating protein (RabGAP) that regulates vesicle trafficking by inactivating Rab proteins, particularly Rab22A and Rab35. The protein contains a TBC (Tre-2/Bub2/Cdc16) domain and an SH3 domain, and is involved in endosomal recycling, cell migration, and immune synapse formation. Mutations and altered expression have been linked to cancer and immune disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of TBC1D10A promotes cell proliferation and migration via Rab22A inactivation | COSMIC, NCBI |
| Prostate cancer | Upregulation associated with poor prognosis; modulates androgen receptor signaling | COSMIC, NCBI |
| Immunodeficiency | Loss-of-function variants impair T-cell receptor recycling and immune synapse stability | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 8.3 | Medium |
| Lung | 6.1 | Low |
| Breast | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| Jurkat | 11.4 | T-cell line, high |
| MCF7 | 8.9 | Breast cancer line |
| HeLa | 7.3 | Cervical cancer line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96Gln) | Missense | <0.01% | Loss of RabGAP activity |
| c.451C>T (p.Arg151Trp) | Missense | <0.01% | Unknown functional effect |
| c.1123_1124insA (p.Thr375Asnfs*2) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations in the TBC domain impair RabGAP activity, disrupting endosomal trafficking.
Gain of Function (GOF)
Not reported in curated databases.
Dominant Negative (DN)
Not reported in curated databases.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • Rab GTPase binding |
| • Endosome | • Cytoplasm |
| • Protein transport | • Regulation of cell migration |
Pathways
• Endosomal recycling
• Rab regulation of trafficking
• Immune synapse formation
Protein Summary
TBC1D10A is a 535-amino acid protein containing an N-terminal TBC domain (RabGAP) and a C-terminal SH3 domain. It acts as a GTPase-activating protein for Rab22A and Rab35, promoting GTP hydrolysis and inactivation. The protein localizes to endosomes and the plasma membrane, regulating endosomal recycling, cell adhesion, and migration. In immune cells, it is critical for T-cell receptor recycling and immune synapse stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBC1D10A Knockout HEK293 Cell Line | EDJ-KQ9914 | Human | 83874 | Details Get a Quote |
| TBC1D10A Knockout HeLa Cell Line | EDJ-KQ35612 | Human | 83874 | Details Get a Quote |
| TBC1D10A Knockout A-549 Cell Line | EDJ-KQ36812 | Human | 83874 | Details Get a Quote |
| TBC1D10A Knockout HCT 116 Cell Line | EDJ-KQ36813 | Human | 83874 | Details Get a Quote |
