VTI1A Gene - Vesicle Transport Through Interaction with t-SNAREs 1A
VTI1A: A key SNARE protein in intracellular vesicle trafficking and membrane fusion
Gene Information Card
| Symbol | VTI1A |
|---|---|
| Full Name | Vesicle Transport Through Interaction with t-SNAREs 1A |
| Gene Type | Protein coding |
| Chromosomal Location | 10q25.2 |
| NCBI Gene ID | 143187 ncbi.nlm.nih.gov/gene/143187 |
| Ensembl ID | ENSG00000119950 |
| UniProt ID | Q96AJ9 |
| OMIM ID | 615707 |
| HGNC ID | 17792 |
| Aliases | VTI1, VTI1A, VTI1A_HUMAN, VTI1A_HUMAN |
Description
VTI1A (Vesicle Transport Through Interaction with t-SNAREs 1A) encodes a member of the SNARE protein family, specifically a v-SNARE that mediates vesicle docking and fusion with target membranes. It is involved in intra-Golgi transport, endosome-to-Golgi trafficking, and autophagy. The protein interacts with syntaxin 6, syntaxin 16, and VAMP4 to form SNARE complexes essential for membrane fusion events. VTI1A is ubiquitously expressed, with highest levels in brain, kidney, and testis. Dysregulation of VTI1A has been implicated in cancer, neurodegenerative diseases, and viral infections.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered VTI1A expression may affect vesicle trafficking of growth factor receptors, influencing cell proliferation and metastasis. | COSMIC; PMID: 25485619 |
| Breast Cancer | VTI1A overexpression correlates with poor prognosis; may promote invasive behavior via altered endosomal trafficking. | COSMIC; PMID: 27397505 |
| Alzheimer's Disease | VTI1A variants associated with altered amyloid precursor protein (APP) trafficking and Aβ production. | ClinVar; PMID: 22961001 |
| Parkinson's Disease | SNARE complex dysfunction involving VTI1A may impair synaptic vesicle recycling. | ClinVar; PMID: 26046460 |
| Viral Infection (e.g., Influenza) | VTI1A is hijacked by viruses for entry and replication; inhibition of VTI1A reduces viral titers. | PMID: 23382660 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Kidney | 10.2 | High |
| Testis | 9.8 | High |
| Lung | 6.3 | Medium |
| Liver | 4.1 | Medium |
| Heart | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line; high expression |
| HEK293 | 12.8 | Embryonic kidney; high expression |
| SH-SY5Y | 11.5 | Neuroblastoma; high expression |
| MCF7 | 8.9 | Breast cancer; medium expression |
| HepG2 | 5.3 | Hepatocellular carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Loss of start codon; likely loss of function |
| c.124C>T (p.Arg42Cys) | Missense | 0.2% | Alters SNARE domain; may impair vesicle fusion |
| c.345_346insA | Frameshift | <0.1% | Premature stop; loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Truncated protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations leading to truncated or unstable VTI1A protein (e.g., nonsense, frameshift) impair SNARE complex assembly and vesicle trafficking.
Gain of Function (GOF)
Not well documented; overexpression in some cancers may confer gain-of-function by enhancing growth factor receptor recycling.
Dominant Negative (DN)
Missense mutations in the SNARE domain (e.g., p.Arg42Cys) may disrupt SNARE complex formation and act in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• KEGG: hsa04130 - SNARE interactions in vesicular transport
• KEGG: hsa04142 - Lysosome
• KEGG: hsa04144 - Endocytosis
• Reactome: R-HSA-421837 - Clathrin-mediated endocytosis
• Reactome: R-HSA-199991 - Membrane Trafficking
Protein Summary
VTI1A is a 217-amino acid protein (25 kDa) belonging to the SNARE family. It contains a C-terminal transmembrane domain and a central SNARE motif that mediates interaction with syntaxin 6, syntaxin 16, and VAMP4. The protein localizes to the Golgi apparatus, endosomes, and autophagosomes. It is essential for retrograde transport from endosomes to the Golgi and for autophagosome formation. Post-translational modifications include palmitoylation, which regulates membrane association. Structural studies show that the SNARE motif forms a four-helix bundle with its partners, driving membrane fusion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VTI1A Knockout HEK293 Cell Line | EDJ-KQ10316 | Human | 143187 | Details Get a Quote |
| VTI1A Knockout HCT 116 Cell Line | EDJ-KQ36358 | Human | 143187 | Details Get a Quote |
| VTI1A Knockout A-549 Cell Line | EDJ-KQ37611 | Human | 143187 | Details Get a Quote |
| VTI1A Knockout HeLa Cell Line | EDJ-KQ37613 | Human | 143187 | Details Get a Quote |
