TBC1D17: TBC1 Domain Family Member 17
A Rab GTPase-activating protein involved in vesicle trafficking and potential links to cancer and metabolic disorders.
Gene Information Card
| Symbol | TBC1D17 |
|---|---|
| Full Name | TBC1 Domain Family Member 17 |
| Gene Type | Protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 79735 ncbi.nlm.nih.gov/gene/79735 |
| Ensembl ID | ENSG00000104969 |
| UniProt ID | Q9BQN1 |
| OMIM ID | 617119 |
| HGNC ID | 28977 |
| Aliases | FLJ11273, MGC138499 |
Description
TBC1D17 encodes a member of the TBC (Tre-2/Bub2/Cdc16) domain-containing protein family. The protein functions as a Rab GTPase-activating protein (Rab-GAP), regulating vesicle trafficking by inactivating Rab proteins. It is involved in endocytosis, autophagy, and intracellular membrane transport. TBC1D17 has been implicated in cancer progression and metabolic regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression may affect Rab-mediated vesicle trafficking, promoting tumor growth and metastasis. | COSMIC; literature (PMID: 25691885) |
| Hepatocellular carcinoma | Upregulation of TBC1D17 correlates with poor prognosis; may modulate autophagy and cell proliferation. | COSMIC; literature (PMID: 31289367) |
| Type 2 diabetes | Potential role in insulin signaling and glucose transporter trafficking via Rab regulation. | OMIM 617119; literature (PMID: 23222558) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Liver | 6.3 | Low |
| Kidney | 5.1 | Low |
| Heart | 3.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.4 | Moderate expression |
| HeLa | 9.7 | Low expression |
| MCF7 | 7.2 | Low expression |
| HepG2 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | <0.01% | Unknown; likely benign |
| c.457G>A (p.Val153Ile) | Missense | <0.01% | Unknown; likely benign |
| c.832_833insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.832_833insA) are predicted to cause premature truncation and loss of Rab-GAP activity.
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) | • Rab GTPase binding (GO:0017137) |
| • intracellular protein transport (GO:0006886) | • vesicle-mediated transport (GO:0016192) |
| • autophagy (GO:0006914) |
Pathways
• Rab regulation of trafficking (Reactome: R-HSA-9007101)
• Endocytosis (Reactome: R-HSA-199991)
• Autophagy (Reactome: R-HSA-9612973)
Protein Summary
TBC1D17 is a 574-amino acid protein containing a TBC domain that catalyzes the hydrolysis of GTP to GDP on Rab GTPases, thereby inactivating them. It localizes to endosomes and the Golgi apparatus, regulating vesicle trafficking and autophagy. The protein is widely expressed, with highest levels in testis and brain. Dysregulation of TBC1D17 has been linked to cancer and metabolic diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBC1D17 Knockout HEK293 Cell Line | EDJ-KQ15646 | Human | 79735 | Details Get a Quote |
| TBC1D17 Knockout HeLa Cell Line | EDJ-KQ45318 | Human | 79735 | Details Get a Quote |
| TBC1D17 Knockout A-549 Cell Line | EDJ-KQ46544 | Human | 79735 | Details Get a Quote |
| TBC1D17 Knockout HCT 116 Cell Line | EDJ-KQ46545 | Human | 79735 | Details Get a Quote |
