VTI1B
Vesicle Transport Through Interaction with t-SNAREs 1B
Gene Information Card
| Symbol | VTI1B |
|---|---|
| Full Name | Vesicle Transport Through Interaction with t-SNAREs 1B |
| Gene Type | protein-coding |
| Chromosomal Location | 14q24.1 |
| NCBI Gene ID | 10476 ncbi.nlm.nih.gov/gene/10476 |
| Ensembl ID | ENSG00000100804 |
| UniProt ID | Q9UEU0 |
| OMIM ID | 608906 |
| HGNC ID | 17793 |
| Aliases | VTI1, VTI1L, VTI1L1, VTI1L2 |
Description
VTI1B encodes a vesicle-soluble N-ethylmaleimide-sensitive factor attachment protein receptor (v-SNARE) that mediates vesicle transport between the trans-Golgi network and endosomes. It is involved in retrograde transport from endosomes to the Golgi and plays a role in autophagy and lysosomal degradation pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pancreatic, breast, colorectal) | Altered VTI1B expression may disrupt Golgi-endosome trafficking, affecting cell signaling and proliferation. | COSMIC; PubMed studies |
| Neurodegenerative disorders (Alzheimer's, Parkinson's) | Impaired vesicle trafficking due to VTI1B dysfunction may contribute to protein aggregation and neuronal death. | ClinVar; PubMed studies |
| Lysosomal storage diseases | Defective retrograde transport can lead to lysosomal dysfunction and accumulation of undegraded substrates. | OMIM; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Pancreas | 8.3 | Low |
| Breast | 6.1 | Low |
| Colon | 7.8 | Low |
| Liver | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.0 | Cervical cancer cell line |
| MCF7 | 9.2 | Breast cancer cell line |
| PANC-1 | 11.4 | Pancreatic cancer cell line |
| HEK293 | 10.1 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Unknown functional effect; reported in ClinVar |
| c.454G>A (p.Val152Met) | Missense | <0.01% | Likely benign |
| c.602_603insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.602_603insA) are predicted to cause premature truncation and loss of SNARE function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for VTI1B.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for VTI1B.
View complete mutation data：
Gene Ontology (GO)
Pathways
• KEGG: hsa04142 (Lysosome)
• KEGG: hsa04144 (Endocytosis)
• Reactome: R-HSA-421837 (Clathrin-mediated endocytosis)
• Reactome: R-HSA-432722 (Golgi-to-ER retrograde transport)
Protein Summary
VTI1B is a 217-amino-acid v-SNARE protein with a single transmembrane domain. It localizes to the Golgi apparatus and endosomes, where it forms SNARE complexes with syntaxin-6, syntaxin-7, and VAMP4 to mediate membrane fusion. It is essential for retrograde transport from early and late endosomes to the trans-Golgi network and participates in autophagosome-lysosome fusion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VTI1B Knockout HEK293 Cell Line | EDJ-KQ7059 | Human | 10490 | Details Get a Quote |
| VTI1B Knockout A-549 Cell Line | EDJ-KQ31862 | Human | 10490 | Details Get a Quote |
| VTI1B Knockout HCT 116 Cell Line | EDJ-KQ31863 | Human | 10490 | Details Get a Quote |
| VTI1B Knockout HeLa Cell Line | EDJ-KQ31864 | Human | 10490 | Details Get a Quote |
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