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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GOSR1
golgi SNAP receptor complex member 1
Chromosome 17 · 17q11.2
NCBI Gene: 9527Ensembl: ENSG00000108587.16HGNC: HGNC:4430UniProt: E9PCW1
77PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
membraneGolgi membraneSNAP receptor activityGolgi apparatusbreast cancerbreast neoplasmplacenta praeviaAnisometropia
✦AI Summary

GOSR1 (Golgi SNAP receptor complex member 1) is a t-SNARE protein localized to chromosome 17 that functions primarily in vesicular transport. It mediates docking and fusion of transport vesicles during ER-to-Golgi and intra-Golgi trafficking, playing a critical role in VLDL delivery to hepatic cis-Golgi 1. GOSR1 contains a SNARE domain that facilitates membrane fusion events essential for protein transport through the secretory pathway. Beyond canonical trafficking functions, GOSR1 negatively regulates NRF2 (nuclear factor erythroid 2-like 2), a master transcription factor controlling cellular stress responses 2. This regulatory role connects GOSR1 to autophagy pathways, as knockout of GOSR1 leads to sustained NRF2 activation, suggesting GOSR1 functions as an autophagy-dependent NRF2 suppressor. Additionally, GOSR1 regulates GLUT4 trafficking in human cells, identifying it as a potential modulator of glucose homeostasis 3. Disease relevance includes stress urinary incontinence, where GOSR1 is overexpressed in affected patients, implicating cytoskeletal and extracellular matrix dysregulation 4. GOSR1 has also been identified in gene fusion events in breast implant-associated anaplastic large-cell lymphoma (NF1-GOSR1 fusion), suggesting potential oncogenic involvement 5. These findings position GOSR1 as a multifunctional trafficking protein with emerging roles in stress response regulation and disease pathogenesis.

Sources cited
1
GOSR1 (GS28) is a Golgi SNARE protein important for trafficking between ER-Golgi and between Golgi subcompartments, located on chromosome 17
PMID: 10198168
2
GOSR1 negatively regulates NRF2 transcription factor activity and is involved in autophagy-dependent NRF2 regulation
PMID: 31010806
3
GOSR1 was identified as a potential novel regulator of GLUT4 trafficking in human cells through siRNA screening
PMID: 32185116
4
GOSR1 is overexpressed in stress urinary incontinence patients and involved in intermediate filament cytoskeleton and extracellular matrix organization
PMID: 31312847
5
GOSR1 is involved in NF1-GOSR1 gene fusion identified in breast implant-associated anaplastic large-cell lymphoma
PMID: 34944796
6
SVA elements are present in the 3'UTR of GOSR1, potentially contributing to transcript regulation
PMID: 24124410
Disease Associationsⓘ20
breast cancerOpen Targets
0.16Weak
breast neoplasmOpen Targets
0.15Weak
placenta praeviaOpen Targets
0.14Weak
AnisometropiaOpen Targets
0.13Weak
mathematical abilityOpen Targets
0.12Weak
cardiovascular diseaseOpen Targets
0.07Suggestive
exostosisOpen Targets
0.06Suggestive
peripheral vascular diseaseOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.04Suggestive
colorectal carcinomaOpen Targets
0.04Suggestive
cervical cancerOpen Targets
0.04Suggestive
glioblastoma multiformeOpen Targets
0.04Suggestive
benign neoplasmOpen Targets
0.04Suggestive
estrogen-receptor positive breast cancerOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
ovarian dysfunctionOpen Targets
0.03Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.02Suggestive
response to statinOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
diffuse large B-cell lymphomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
USO1Protein interaction100%SEC22CProtein interaction100%STX6Protein interaction100%VTI1AProtein interaction100%VAMP2Protein interaction100%SEC22AProtein interaction100%
Tissue Expression6 tissues
Liver
100%
Brain
95%
Heart
78%
Ovary
67%
Lung
57%
Bone Marrow
47%
Gene Interaction Network
Click a node to explore
GOSR1USO1SEC22CSTX6VTI1AVAMP2SEC22A
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O95249
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.75LoF Tolerant
pLIⓘ
0.24Tolerant
Observed/Expected LoF0.51 [0.17–1.75]
RankingsWhere GOSR1 stands among ~20K protein-coding genes
  • #6,162of 20,598
    Most Researched77
  • #16,352of 17,882
    Most Constrained (LOEUF)1.75
Genes detectedGOSR1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Gene expression in stress urinary incontinence: a systematic review.
PMID: 31312847
Int Urogynecol J · 2020
1.00
2
Structure and Expression Analyses of SVA Elements in Relation to Functional Genes.
PMID: 24124410
Genomics Inform · 2013
0.90
3
Genome-Wide CRISPR Screen Reveals Autophagy Disruption as the Convergence Mechanism That Regulates the NRF2 Transcription Factor.
PMID: 31010806
Mol Cell Biol · 2019
0.80
4
Characterisation of GLUT4 trafficking in HeLa cells: comparable kinetics and orthologous trafficking mechanisms to 3T3-L1 adipocytes.
PMID: 32185116
PeerJ · 2020
0.70
5
cDNA characterization and chromosomal mapping of human golgi SNARE GS27 and GS28 to chromosome 17.
PMID: 10198168
Genomics · 1999
0.60