TBC1D5
TBC1 Domain Family Member 5
Gene Information Card
| Symbol | TBC1D5 |
|---|---|
| Full Name | TBC1 Domain Family Member 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p24.3 |
| NCBI Gene ID | 9779 ncbi.nlm.nih.gov/gene/9779 |
| Ensembl ID | ENSG00000163947 |
| UniProt ID | Q92609 |
| OMIM ID | 615992 |
| HGNC ID | 29166 |
| Aliases | KIAA0210, TBC1D5A, TBC1D5B |
Description
TBC1D5 encodes a member of the TBC (Tre-2/Bub2/Cdc16) domain-containing protein family. The protein functions as a GTPase-activating protein (GAP) for Rab small GTPases, particularly Rab7a, regulating endosomal trafficking and autophagy. It is involved in retromer-mediated cargo sorting and autophagosome maturation. Mutations and altered expression have been implicated in cancer and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered TBC1D5 expression disrupts Rab7-mediated endosomal trafficking and autophagy, promoting tumorigenesis | COSMIC, literature |
| Neurodegeneration (e.g., Alzheimer's disease) | Impaired autophagy and retromer function due to TBC1D5 dysregulation | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Lung | 8.5 | Medium |
| Liver | 6.1 | Low |
| Kidney | 7.8 | Medium |
| Testis | 12.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.3 | Moderate expression |
| HeLa | 7.1 | Moderate expression |
| A549 | 6.8 | Moderate expression |
| K562 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1246C>T (p.Arg416Trp) | Missense | <0.01% | Unknown functional effect |
| c.1873G>A (p.Val625Met) | Missense | <0.01% | Unknown functional effect |
| c.2140_2141insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, impairing GAP activity and Rab7 regulation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • Rab GTPase binding |
| • endosome to lysosome transport | • autophagy |
| • retromer complex |
Pathways
• Endosomal trafficking (Rab7 regulation)
• Autophagy - lysosome pathway
• Retromer-mediated cargo recycling
Protein Summary
TBC1D5 is a 1254-amino acid protein containing a TBC domain that acts as a Rab GTPase-activating protein (GAP) specific for Rab7a. It localizes to endosomes and autophagosomes, regulating membrane trafficking and cargo sorting. The protein interacts with the retromer complex and is involved in autophagosome-lysosome fusion. Its expression is highest in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBC1D5 Knockout HEK293 Cell Line | EDJ-KQ6087 | Human | 9779 | Details Get a Quote |
| TBC1D5 Knockout A-549 Cell Line | EDJ-KQ31152 | Human | 9779 | Details Get a Quote |
| TBC1D5 Knockout HCT 116 Cell Line | EDJ-KQ31154 | Human | 9779 | Details Get a Quote |
| TBC1D5 Knockout HeLa Cell Line | EDJ-KQ31155 | Human | 9779 | Details Get a Quote |
