TBC1D19: TBC1 Domain Family Member 19
A Rab GTPase-activating protein implicated in vesicular trafficking and potential roles in cancer and developmental disorders.
Gene Information Card
| Symbol | TBC1D19 |
|---|---|
| Full Name | TBC1 Domain Family Member 19 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q31.3 |
| NCBI Gene ID | 55296 ncbi.nlm.nih.gov/gene/55296 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q9HNU1 |
| OMIM ID | 616768 |
| HGNC ID | 28956 |
| Aliases | FLJ10707, MGC13170 |
Description
TBC1D19 (TBC1 Domain Family Member 19) encodes a protein containing a TBC (Tre-2/Bub2/Cdc16) domain, which is characteristic of Rab GTPase-activating proteins (RabGAPs). RabGAPs regulate vesicular trafficking by inactivating Rab GTPases. TBC1D19 is involved in endocytic recycling and may play roles in cell signaling and membrane dynamics. Alterations in TBC1D19 have been associated with certain cancers and developmental phenotypes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Potential dysregulation of vesicular trafficking affecting cell proliferation and migration; TBC1D19 expression changes observed in tumor tissues. | NCBI Gene, COSMIC |
| Developmental delay / intellectual disability | Rare copy number variants and missense mutations reported in patients with neurodevelopmental phenotypes. | ClinVar, OMIM |
| Breast cancer | Altered expression levels linked to tumor progression; functional studies suggest role in cell invasion. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Lung | 3.8 | Low |
| Liver | 2.1 | Low |
| Kidney | 4.5 | Low |
| Testis | 6.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 4.3 | Cervical cancer cell line |
| HEK293 | 3.9 | Embryonic kidney cells |
| MCF7 | 5.1 | Breast cancer cell line |
| A549 | 4.0 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown; predicted possibly damaging |
| c.457G>A (p.Gly153Arg) | Missense | <0.01% | Unknown; predicted benign |
| c.1120_1121del (p.Leu374fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu374fs) are predicted to cause loss of RabGAP activity.
Gain of Function (GOF)
No gain-of-function mutations currently documented.
Dominant Negative (DN)
Not established for TBC1D19.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • Rab GTPase binding |
| • intracellular protein transport | • vesicle-mediated transport |
| • endosome to lysosome transport |
Pathways
• Rab regulation of trafficking
• Endocytosis
Protein Summary
TBC1D19 is a 574-amino acid protein containing a TBC domain that acts as a Rab GTPase-activating protein (RabGAP). It localizes to endosomal membranes and regulates Rab GTPase activity, thereby controlling vesicle trafficking and membrane recycling. The protein is expressed in multiple tissues, with highest levels in testis and brain. Structural studies indicate that the TBC domain adopts a conserved fold essential for catalytic activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBC1D19 Knockout HEK293 Cell Line | EDJ-KQ15648 | Human | 55296 | Details Get a Quote |
| TBC1D19 Knockout A-549 Cell Line | EDJ-KQ46546 | Human | 55296 | Details Get a Quote |
| TBC1D19 Knockout HCT 116 Cell Line | EDJ-KQ46547 | Human | 55296 | Details Get a Quote |
| TBC1D19 Knockout HeLa Cell Line | EDJ-KQ46548 | Human | 55296 | Details Get a Quote |
