GOSR1
Golgi SNAP Receptor Complex Member 1
Gene Information Card
| Symbol | GOSR1 |
|---|---|
| Full Name | Golgi SNAP Receptor Complex Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.32 |
| NCBI Gene ID | 9527 ncbi.nlm.nih.gov/gene/9527 |
| Ensembl ID | ENSG00000108557 |
| UniProt ID | O95249 |
| OMIM ID | 604026 |
| HGNC ID | 4431 |
| Aliases | GS27, GOS-28, GOSR1, p28 |
Description
GOSR1 (Golgi SNAP Receptor Complex Member 1) encodes a protein that is a component of the Golgi SNARE complex. This complex mediates the docking and fusion of transport vesicles with the Golgi membrane, playing a critical role in intracellular membrane trafficking and protein transport.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and spasticity | Loss-of-function mutations impair Golgi trafficking, leading to neuronal dysfunction | PMID: 31006511, ClinVar |
| Epileptic encephalopathy | Disruption of SNARE-mediated vesicle fusion affects synaptic transmission | ClinVar, PMID: 31006511 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 10.1 | Medium |
| Heart | 7.6 | Low |
| Lung | 9.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 11.8 | Medium expression |
| SH-SY5Y | 13.0 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | Rare | Loss of function, associated with neurodevelopmental disorder |
| c.494G>A (p.Arg165His) | Missense | Rare | Potential dominant-negative effect on SNARE complex assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense variants (e.g., p.Arg165His) may disrupt SNARE complex formation.
View complete mutation data：
Gene Ontology (GO)
| • SNARE binding | • intracellular protein transport |
| • vesicle fusion | • Golgi membrane |
| • SNAP receptor activity |
Pathways
• SNARE interactions in vesicular transport
• Membrane trafficking
• Golgi-to-ER retrograde transport
Protein Summary
GOSR1 is a 28 kDa Golgi SNARE protein that forms part of the cis-Golgi t-SNARE complex. It interacts with other SNAREs (e.g., GOSR2, STX5) to mediate vesicle docking and fusion at the Golgi apparatus. The protein contains a coiled-coil domain and a transmembrane domain for membrane anchoring.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GOSR1 Knockout HEK293 Cell Line | EDJ-KQ6622 | Human | 9527 | Details Get a Quote |
| GOSR1 Knockout HCT 116 Cell Line | EDJ-KQ29522 | Human | 9527 | Details Get a Quote |
| GOSR1 Knockout A-549 Cell Line | EDJ-KQ30865 | Human | 9527 | Details Get a Quote |
| GOSR1 Knockout HeLa Cell Line | EDJ-KQ30866 | Human | 9527 | Details Get a Quote |
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