TSNARE1
T-SNARE Domain Containing 1
Gene Information Card
| Symbol | TSNARE1 |
|---|---|
| Full Name | T-SNARE Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q24.3 |
| NCBI Gene ID | 203062 ncbi.nlm.nih.gov/gene/203062 |
| Ensembl ID | ENSG00000164733 |
| UniProt ID | Q5T8X3 |
| OMIM ID | 617983 |
| HGNC ID | 30782 |
| Aliases | MGC16384, FLJ32709 |
Description
TSNARE1 encodes a protein containing a T-SNARE (target-SNARE) domain, which is involved in intracellular membrane fusion and vesicle trafficking. The protein is predicted to play a role in the docking and fusion of vesicles with target membranes, contributing to cellular transport processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Genetic association studies have linked TSNARE1 variants to increased risk; exact mechanism unclear | GWAS catalog (PMID: 25056061) |
| Bipolar disorder | SNPs in TSNARE1 region show nominal association in meta-analyses | Psychiatric Genomics Consortium (PMID: 21926972) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 4.2 | Low |
| Testis | 3.8 | Low |
| Lung | 2.1 | Not detected |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 5.0 | Neuronal cell line |
| HEK293 | 2.3 | Embryonic kidney cells |
| HepG2 | 1.1 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs4129585 | SNV | 0.12 (global) | Intronic; associated with schizophrenia risk |
| rs7005606 | SNV | 0.08 (European) | Intronic; nominal association with bipolar disorder |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function variants documented.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • SNAP receptor activity (GO:0005484) | • intracellular protein transport (GO:0006886) |
| • vesicle-mediated transport (GO:0016192) | • SNARE complex (GO:0031201) |
Pathways
• REACT:199991 - Membrane Trafficking
• REACT:21369 - Vesicle-mediated transport
Protein Summary
The TSNARE1 protein (UniProt Q5T8X3) contains a T-SNARE coiled-coil domain characteristic of target membrane SNAREs. It is predicted to localize to membranes and facilitate vesicle fusion. Expression is highest in brain and testis. Structural studies are limited; function inferred from domain homology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSNARE1 Knockout HEK293 Cell Line | EDJ-KQ5417 | Human | 203062 | Details Get a Quote |
| TSNARE1 Knockout A-549 Cell Line | EDJ-KQ28580 | Human | 203062 | Details Get a Quote |
| TSNARE1 Knockout HCT 116 Cell Line | EDJ-KQ28581 | Human | 203062 | Details Get a Quote |
| TSNARE1 Knockout HeLa Cell Line | EDJ-KQ28582 | Human | 203062 | Details Get a Quote |
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