GOSR1

gene
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Also known as GOS28P28GS28GOS-28GOLIM2

Summary

GOSR1 (golgi SNAP receptor complex member 1, HGNC:4430) is a protein-coding gene on chromosome 17q11.2, encoding Golgi SNAP receptor complex member 1 (O95249). Involved in transport from the ER to the Golgi apparatus as well as in intra-Golgi transport.

This gene encodes a trafficking membrane protein which transports proteins among the endoplasmic reticulum and the Golgi and between Golgi compartments. This protein is considered an essential component of the Golgi SNAP receptor (SNARE) complex. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.

Source: NCBI Gene 9527 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 61 total
  • MANE Select transcript: NM_001007025

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:4430
Approved symbolGOSR1
Namegolgi SNAP receptor complex member 1
Location17q11.2
Locus typegene with protein product
StatusApproved
AliasesGOS28, P28, GS28, GOS-28, GOLIM2
Ensembl geneENSG00000108587
Ensembl biotypeprotein_coding
OMIM604026
Entrez9527

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 8 protein_coding, 4 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000225724, ENST00000414833, ENST00000427274, ENST00000451249, ENST00000467337, ENST00000467635, ENST00000477885, ENST00000491489, ENST00000494918, ENST00000537788, ENST00000579905, ENST00000581721, ENST00000870797, ENST00000915315, ENST00000955362

RefSeq mRNA: 3 — MANE Select: NM_001007025 NM_001007024, NM_001007025, NM_004871

CCDS: CCDS11258, CCDS45643, CCDS45644

Canonical transcript exons

ENST00000451249 — 9 exons

ExonStartEnd
ENSE000023577873049267930492753
ENSE000027019173052225430527592
ENSE000027086533047740830477464
ENSE000028174293049012630490217
ENSE000034657323051993930520021
ENSE000034959893051088030510909
ENSE000035784223048421430484301
ENSE000036193343048114330481257
ENSE000036198823048466330484770

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 96.99.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.8498 / max 566.0642, expressed in 1816 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
16013837.84981816

Top tissues by expression

296 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
buccal mucosa cellCL:000233696.99gold quality
nippleUBERON:000203095.90gold quality
tibiaUBERON:000097995.88gold quality
visceral pleuraUBERON:000240195.84gold quality
caput epididymisUBERON:000435895.81gold quality
calcaneal tendonUBERON:000370195.75gold quality
pancreatic ductal cellCL:000207995.74gold quality
parietal pleuraUBERON:000240095.19gold quality
corpus epididymisUBERON:000435995.18gold quality
pleuraUBERON:000097794.93gold quality
cauda epididymisUBERON:000436094.88gold quality
paraflocculusUBERON:000535194.84gold quality
pylorusUBERON:000116694.72gold quality
trabecular bone tissueUBERON:000248394.58gold quality
cranial nerve IIUBERON:000094194.53gold quality
renal medullaUBERON:000036294.36gold quality
islet of LangerhansUBERON:000000694.34gold quality
mucosa of paranasal sinusUBERON:000503094.10gold quality
Brodmann (1909) area 23UBERON:001355493.76gold quality
cardia of stomachUBERON:000116293.71gold quality
bronchial epithelial cellCL:000232893.55gold quality
middle temporal gyrusUBERON:000277193.44gold quality
frontal poleUBERON:000279593.43gold quality
middle frontal gyrusUBERON:000270293.39gold quality
palpebral conjunctivaUBERON:000181293.35gold quality
epithelium of bronchusUBERON:000203193.32gold quality
mammalian vulvaUBERON:000099793.27gold quality
bronchusUBERON:000218593.27gold quality
lower lobe of lungUBERON:000894993.00gold quality
adult organismUBERON:000702392.93gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes7.97

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GLI1

miRNA regulators (miRDB)

214 targeting GOSR1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-4795-3P100.0074.624024
HSA-MIR-126-5P100.0072.713180
HSA-MIR-4692100.0067.322066
HSA-MIR-513A-5P100.0069.772465
HSA-MIR-6127100.0066.762188
HSA-MIR-4510100.0066.602050
HSA-MIR-6129100.0066.462080
HSA-MIR-6130100.0066.692012
HSA-MIR-6133100.0066.482064
HSA-MIR-5692A100.0074.406850
HSA-MIR-4455100.0065.481587
HSA-MIR-12118100.0065.881270
HSA-MIR-6851-5P100.0065.631294
HSA-MIR-3689D100.0066.141181
HSA-MIR-3646100.0073.565283
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-150-5P99.9966.691976
HSA-MIR-186-5P99.9970.833707
HSA-MIR-451499.9967.101870
HSA-MIR-513B-5P99.9969.962150
HSA-MIR-548P99.9872.253784
HSA-MIR-6891-5P99.9866.531372
HSA-MIR-3173-3P99.9866.491217
HSA-MIR-477599.9875.006394
HSA-MIR-520D-5P99.9873.344883
HSA-MIR-524-5P99.9873.434882
HSA-MIR-7152-3P99.9767.47849
HSA-MIR-551B-5P99.9671.283493
HSA-MIR-4666A-3P99.9671.713434
HSA-MIR-548AJ-3P99.9673.385345

Literature-anchored findings (GeneRIF, showing 9)

  • Data suggest that GS15 exists in a distinct SNARE complex that contains syntaxin5, GS28, and Ykt6, and may be involved in both ER-to-Golgi and intra-Golgi transport. (PMID:12388752)
  • RINT-1 coordinates the localization and function of ZW10 by serving as a link between ZW10 and the SNARE complex comprising syntaxin 18. (PMID:16571679)
  • Apolipoprotein E, growth factor receptor-bound protein 2, Golgi SNAP receptor complex member 1, and glucosidase, beta, acid may play a neurodegenerative role in stress urinary incontinence development. (PMID:20700730)
  • ORP7 negatively regulates GS28 protein stability via sequestration of GATE-16, and may mediate the effect of 25-OH on GS28 and Golgi function. (PMID:21669198)
  • GS28 may potentiate cells to DNA-damage-induced apoptosis by inhibiting the ubiquitination and degradation of p53. (PMID:22397410)
  • Golgi vesicles, presumably with COPI, serve to inhibit intra-Golgi transport by the extraction of GS27 and GS28 from the Golgi cisternae, which blocks the formation of inter-cisternal connections (PMID:23387339)
  • High nuclear expression of GS28 is associated with poor prognosis in early-stage cervical cancer patients. GS28 might be a novel prognostic marker and a potential therapeutic target in cervical cancer treatment. (PMID:27611086)
  • these results indicate that GS28 nuclear predominant expression could serve as a prognostic marker for colorectal cancer (CRC) and may help in identifying aggressive forms of CRC (PMID:28638266)
  • Diverse Role of SNARE Protein GS28 in Vesicle Trafficking and Diseases. (PMID:36924089)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_reriogosr1ENSDARG00000026654
mus_musculusGosr1ENSMUSG00000010392
rattus_norvegicusGosr1ENSRNOG00000070572
drosophila_melanogasterGos28FBGN0044871
caenorhabditis_elegansWBGENE00017273

Protein

Protein identifiers

Golgi SNAP receptor complex member 1O95249 (reviewed: O95249)

Alternative names: 28 kDa Golgi SNARE protein, 28 kDa cis-Golgi SNARE p28

All UniProt accessions (6): O95249, B4DQA8, E9PCW1, F6RU00, G5E9T8, K7EJC8

UniProt curated annotations — full annotation on UniProt →

Function. Involved in transport from the ER to the Golgi apparatus as well as in intra-Golgi transport. It belongs to a super-family of proteins called t-SNAREs or soluble NSF (N-ethylmaleimide-sensitive factor) attachment protein receptor. May play a protective role against hydrogen peroxide induced cytotoxicity under glutathione depleted conditions in neuronal cells by regulating the intracellular ROS levels via inhibition of p38 MAPK (MAPK11, MAPK12, MAPK13 and MAPK14). Participates in docking and fusion stage of ER to cis-Golgi transport. Plays an important physiological role in VLDL-transport vesicle-Golgi fusion and thus in VLDL delivery to the hepatic cis-Golgi.

Subunit / interactions. Component of several multiprotein Golgi SNARE complexes. Identified in a SNARE complex with BET1, STX5 and YKT6, in a SNARE complex with BET1L, STX5 and YKT6, in a SNARE complex with STX5, GOSR2, SEC22B and BET1, and in complex with STX5 and COG3. Interacts with GABARAPL2.

Subcellular location. Golgi apparatus membrane.

Induction. Expression induced by hydrogen peroxide in neuronal cells. By monocrotaline in pulmonary epithelial cells (at protein level). Negatively regulated by OSBPL7 via GABARAPL2 leading to degradation on proteasomes (at protein level).

Similarity. Belongs to the GOSR1 family.

Isoforms (2)

UniProt IDNamesCanonical?
O95249-11yes
O95249-22

RefSeq proteins (3): NP_001007025, NP_001007026, NP_004862 (=MANE)

Domains & families (InterPro)

IDNameType
IPR023601Golgi_SNAP_su1Family

Pfam: PF12352

UniProt features (16 total): sequence conflict 5, coiled-coil region 2, modified residue 2, initiator methionine 1, chain 1, splice variant 1, topological domain 1, transmembrane region 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-O95249-F184.740.50

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 2, 141

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

IDPathway
R-HSA-6807878COPI-mediated anterograde transport
R-HSA-6811438Intra-Golgi traffic

MSigDB gene sets: 188 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, JI_RESPONSE_TO_FSH_UP, TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_VESICLE_ORGANIZATION, GOBP_MEMBRANE_FUSION, TGACCTY_ERR1_Q2, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, chr17q11, GOBP_INTRA_GOLGI_VESICLE_MEDIATED_TRANSPORT, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, FOSTER_TOLERANT_MACROPHAGE_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_ORGANELLE_MEMBRANE_FUSION, SCHLOSSER_SERUM_RESPONSE_DN

GO Biological Process (7): endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), intra-Golgi vesicle-mediated transport (GO:0006891), vesicle fusion (GO:0006906), protein transport (GO:0015031), retrograde transport, endosome to Golgi (GO:0042147), inter-Golgi cisterna vesicle-mediated transport (GO:0048219), vesicle-mediated transport (GO:0016192)

GO Molecular Function (1): SNAP receptor activity (GO:0005484)

GO Cellular Component (8): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), Golgi medial cisterna (GO:0005797), cis-Golgi network (GO:0005801), cytosol (GO:0005829), membrane (GO:0016020), transport vesicle (GO:0030133), SNARE complex (GO:0031201)

Reactome top-level categories

Rollup of top-2 pathways:

CategoryPathways
ER to Golgi Anterograde Transport1
Intra-Golgi and retrograde Golgi-to-ER traffic1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cytoplasm4
intercellular transport2
Golgi vesicle transport2
transport2
Golgi apparatus2
endomembrane system2
intracellular membrane-bounded organelle2
cellular anatomical structure2
intracellular transport1
vesicle organization1
vesicle-mediated transport1
organelle membrane fusion1
intracellular protein localization1
establishment of protein localization1
endosomal transport1
cytosolic transport1
intra-Golgi vesicle-mediated transport1
cellular process1
protein-macromolecule adaptor activity1
membrane fusion1
fusogenic activity1
bounding membrane of organelle1
Golgi cisterna1
cytoplasmic vesicle1
membrane protein complex1

Protein interactions and networks

STRING

1968 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
GOSR1STX5Q13190999
GOSR1YKT6O15498994
GOSR1GOSR2O14653972
GOSR1BET1O15155969
GOSR1SEC22BO75396961
GOSR1SCFD1Q8WVM8936
GOSR1VTI1BQ9UEU0922
GOSR1VAMP5O95183838
GOSR1VTI1AQ96AJ9768
GOSR1BET1LQ9NYM9755
GOSR1GABARAPL2P60520753
GOSR1COG7P83436752
GOSR1STX16O14662736
GOSR1STX6O43752731
GOSR1SEC22AQ96IW7696

IntAct

121 interactions, top by confidence:

ABTypeScore
GOSR2BET1psi-mi:“MI:0914”(association)0.810
NAPASNAP23psi-mi:“MI:0914”(association)0.780
CFTRESYT2psi-mi:“MI:2364”(proximity)0.710
FAM9CNDC80psi-mi:“MI:0914”(association)0.670
STX6GOSR2psi-mi:“MI:0914”(association)0.670
USE1NBASpsi-mi:“MI:0914”(association)0.640
STX7SNAP23psi-mi:“MI:0914”(association)0.640
STX12SNAP23psi-mi:“MI:0914”(association)0.640
TRDNTMEM223psi-mi:“MI:0914”(association)0.640
GOSR1SEC22Bpsi-mi:“MI:0914”(association)0.530
VAMP5NBASpsi-mi:“MI:0914”(association)0.530
MRAP2GOLIM4psi-mi:“MI:0914”(association)0.530
CSGALNACT2GOLIM4psi-mi:“MI:0914”(association)0.530
STX11EXOC5psi-mi:“MI:0914”(association)0.530
STX3YKT6psi-mi:“MI:0914”(association)0.530
NAPANBASpsi-mi:“MI:0914”(association)0.530
LPAR1TMEM223psi-mi:“MI:0914”(association)0.530
STX3NBASpsi-mi:“MI:0914”(association)0.530
NRASESYT2psi-mi:“MI:2364”(proximity)0.480
BET1SNAP23psi-mi:“MI:0914”(association)0.420
ORF55GOSR1psi-mi:“MI:0915”(physical association)0.400
ATAD1GOSR1psi-mi:“MI:0915”(physical association)0.400
GOSR1GPR182psi-mi:“MI:0915”(physical association)0.370
OCRLMYO1Cpsi-mi:“MI:0914”(association)0.350

BioGRID (223): GOSR1 (Affinity Capture-MS), GOSR1 (Affinity Capture-MS), GOSR1 (Affinity Capture-MS), GOSR1 (Affinity Capture-MS), GOSR1 (Affinity Capture-MS), GOSR1 (Affinity Capture-MS), GOSR1 (Affinity Capture-Western), GOSR1 (Co-fractionation), GOSR1 (Proximity Label-MS), GOSR1 (Proximity Label-MS), GOSR1 (Affinity Capture-MS), GOSR1 (Affinity Capture-MS), GOSR1 (Affinity Capture-MS), GOSR1 (Affinity Capture-MS), GOSR1 (Affinity Capture-MS)

ESM2 similar proteins: G3V7P1, O08522, O14662, O15400, O22151, O43752, O49377, O60499, O64791, O70257, O70439, O70480, O75379, O88384, O88630, O88983, O95249, P58200, Q08851, Q08DB5, Q13190, Q2KIU0, Q2TBU3, Q32L97, Q3T075, Q3ZBT5, Q5R602, Q5R6Q2, Q5RBL6, Q5RBW6, Q5RF94, Q5SRX1, Q5ZL19, Q62931, Q63635, Q86Y82, Q8BVI5, Q8K1E0, Q944A9, Q946Y7

Diamond homologs: A8XLW0, O08522, O22151, O88630, O95249, Q2TBU3, Q5RBL6, Q62931, Q95ZW1, Q9VE50, Q9LMP7

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 126 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
Intra-Golgi traffic723.3×7e-06
Regulation of RAS by GAPs512.4×8e-04
COPII-mediated vesicle transport510.5×1e-03
ER-Phagosome pathway610.0×6e-04
Intra-Golgi and retrograde Golgi-to-ER traffic79.4×3e-04
RAC3 GTPase cycle57.6×4e-03
COPI-mediated anterograde transport57.0×4e-03
Membrane Trafficking125.7×9e-05

GO biological processes:

GO termPartnersFoldFDR
obsolete vesicle docking641.8×2e-06
zinc ion transmembrane transport638.3×2e-06
vesicle fusion632.8×3e-06
intracellular zinc ion homeostasis730.6×2e-06
intracellular protein transport95.3×3e-03
protein transport124.8×7e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

61 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance39
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1813 predictions. Top by Δscore:

VariantEffectΔscore
17:30477462:A:Tdonor_gain1.0000
17:30481135:T:TAacceptor_gain1.0000
17:30481140:A:Gacceptor_gain1.0000
17:30481141:A:Gacceptor_gain1.0000
17:30481141:AG:Aacceptor_loss1.0000
17:30481142:G:GGacceptor_gain1.0000
17:30481142:GAT:Gacceptor_gain1.0000
17:30484212:A:AGacceptor_gain1.0000
17:30484213:G:GTacceptor_gain1.0000
17:30484213:GT:Gacceptor_gain1.0000
17:30484213:GTT:Gacceptor_gain1.0000
17:30484213:GTTC:Gacceptor_gain1.0000
17:30484213:GTTCT:Gacceptor_gain1.0000
17:30484299:AGG:Adonor_gain1.0000
17:30484300:GG:Gdonor_gain1.0000
17:30484300:GGG:Gdonor_gain1.0000
17:30484301:GG:Gdonor_gain1.0000
17:30484302:G:GGdonor_gain1.0000
17:30484302:GTAA:Gdonor_loss1.0000
17:30484303:T:Adonor_loss1.0000
17:30484661:A:AGacceptor_gain1.0000
17:30484662:G:GAacceptor_gain1.0000
17:30492673:TCCCA:Tacceptor_loss1.0000
17:30492674:CCCA:Cacceptor_loss1.0000
17:30492675:CCAG:Cacceptor_loss1.0000
17:30492677:A:Tacceptor_loss1.0000
17:30492678:G:GAacceptor_loss1.0000
17:30492750:GAAA:Gdonor_gain1.0000
17:30492754:G:GGdonor_gain1.0000
17:30510908:AG:Adonor_loss1.0000

AlphaMissense

1643 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
17:30481191:T:CL27P1.000
17:30484664:T:CL81P1.000
17:30484751:G:CR110P1.000
17:30519943:G:CA184P1.000
17:30481149:G:TR13M0.999
17:30481157:G:CA16P0.999
17:30481158:C:AA16D0.999
17:30481161:G:CR17P0.999
17:30481171:A:CE20D0.999
17:30481171:A:TE20D0.999
17:30481179:T:CL23P0.999
17:30484685:T:GM88R0.999
17:30484753:C:GH111D0.999
17:30484754:A:CH111P0.999
17:30490190:T:CL138P0.999
17:30519944:C:AA184D0.999
17:30519949:G:CA186P0.999
17:30522326:G:AG234E0.999
17:30522337:G:AG238R0.999
17:30522337:G:CG238R0.999
17:30522343:T:CC240R0.999
17:30481170:A:TE20V0.998
17:30481182:A:TD24V0.998
17:30481191:T:AL27Q0.998
17:30484685:T:AM88K0.998
17:30484685:T:CM88T0.998
17:30484738:C:GH106D0.998
17:30484763:T:AI114K0.998
17:30492747:T:CL170P0.998
17:30510881:T:CS173P0.998

dbSNP variants (sampled 300 via entrez): RS1000061385 (17:30497825 G>A), RS1000064144 (17:30492006 T>C), RS1000069182 (17:30498792 G>C), RS1000115678 (17:30494344 T>G), RS1000153508 (17:30476658 A>G), RS1000164838 (17:30520148 G>A), RS1000350184 (17:30524044 T>G), RS1000359804 (17:30485588 C>T), RS1000362691 (17:30479716 G>T), RS1000469031 (17:30481947 T>G), RS1000480798 (17:30523073 G>A,C,T), RS1000621239 (17:30510771 A>C,G), RS1000623762 (17:30475530 A>G), RS1000676137 (17:30475893 A>G), RS1000705617 (17:30511100 A>C)

Disease associations

OMIM: gene MIM:604026 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

ChemicalActions (top 5)PubMed papers
triphenyl phosphateaffects expression1
beta-lapachoneincreases expression1
sodium arseniteaffects binding, increases reaction1
cobaltous chlorideincreases expression1
butyraldehydedecreases expression1
ochratoxin Adecreases expression1
di-n-butylphosphoric acidaffects expression1
abrineincreases expression1
Sunitinibincreases expression1
Vehicle Emissionsincreases expression, increases abundance1
Cadmiumdecreases expression, increases abundance1
Deferoxamineaffects reaction, decreases phosphorylation, decreases reaction1
Doxorubicindecreases expression1
Methyl Methanesulfonateincreases expression1
Nitroprussidedecreases phosphorylation, decreases reaction, decreases expression, affects reaction1
Seleniumdecreases expression1
Testosteronedecreases expression1
Tobacco Smoke Pollutionincreases expression1
Valproic Acidaffects expression1
Vitamin Edecreases expression1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxidedecreases expression1
Aflatoxin B1increases methylation1
Cadmium Chloridedecreases expression, increases abundance1
Thapsigargindecreases expression1
Palmitic Aciddecreases phosphorylation1
Copper Sulfateincreases expression1
Particulate Matterincreases abundance, increases expression1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.