GOSR1 golgi SNAP receptor complex member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GOSR1provided by HGNC
Official Full Name: golgi SNAP receptor complex member 1provided by HGNC
Primary source: HGNC:HGNC:4430
See related: Ensembl:ENSG00000108587 MIM:604026; AllianceGenome:HGNC:4430
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: P28; GS28; GOS28; GOLIM2; GOS-28; GOS28/P28
Summary: 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. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 7.3), kidney (RPKM 5.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q11.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (30477408..30527592)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (31422038..31472230)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (28804426..28854610)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Diverse Role of SNARE Protein GS28 in Vesicle Trafficking and Diseases.
Title: Diverse Role of SNARE Protein GS28 in Vesicle Trafficking and Diseases.
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
Title: Nuclear Expression of GS28 Protein: A Novel Biomarker that Predicts Prognosis in Colorectal Cancers.
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.
Title: Nuclear Expression of GS28 Protein: A Novel Biomarker that Predicts Worse Prognosis in Cervical Cancers.
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
Title: Segregation of the Qb-SNAREs GS27 and GS28 into Golgi vesicles regulates intra-Golgi transport.
GS28 may potentiate cells to DNA-damage-induced apoptosis by inhibiting the ubiquitination and degradation of p53.
Title: Golgi-SNARE GS28 potentiates cisplatin-induced apoptosis by forming GS28-MDM2-p53 complexes and by preventing the ubiquitination and degradation of p53.
ORP7 negatively regulates GS28 protein stability via sequestration of GATE-16, and may mediate the effect of 25-OH on GS28 and Golgi function.
Title: OSBP-related protein 7 interacts with GATE-16 and negatively regulates GS28 protein stability.
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.
Title: Microarray analysis of differentially expressed genes in vaginal tissues in postmenopausal women. The role of stress urinary incontinence.
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.
Title: GS15 forms a SNARE complex with syntaxin 5, GS28, and Ykt6 and is implicated in traffic in the early cisternae of the Golgi apparatus.
RINT-1 coordinates the localization and function of ZW10 by serving as a link between ZW10 and the SNARE complex comprising syntaxin 18.
Title: RINT-1 regulates the localization and entry of ZW10 to the syntaxin 18 complex.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

SHGC-33031 (e-PCR)
- UniSTS:41232

GDB:434012 (e-PCR)
- UniSTS:157204

RH91424 (e-PCR)
- UniSTS:88613

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-31113 (e-PCR)
- UniSTS:73539

SHGC-132420 (e-PCR)
- UniSTS:170833

D11S3114 (e-PCR)
- UniSTS:152207

RH122605 (e-PCR)
- UniSTS:138668

D17S2120 (e-PCR)
- UniSTS:59054

SHGC-33050 (e-PCR)
- UniSTS:63926

RH65670 (e-PCR)
- UniSTS:90325

GDB:631802 (e-PCR)
- UniSTS:158429

D3S4354 (e-PCR)
- UniSTS:474102

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SNAP receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables SNAP receptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in inter-Golgi cisterna vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in intra-Golgi vesicle-mediated transport	TAS Traceable Author Statement more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in retrograde transport, endosome to Golgi	IDA Inferred from Direct Assay more info	PubMed
involved_in vesicle fusion	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
is_active_in Golgi medial cisterna	IBA Inferred from Biological aspect of Ancestor more info
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	TAS Traceable Author Statement more info
part_of SNARE complex	IBA Inferred from Biological aspect of Ancestor more info
part_of SNARE complex	TAS Traceable Author Statement more info	PubMed
located_in cis-Golgi network	IEA Inferred from Electronic Annotation more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in transport vesicle	TAS Traceable Author Statement more info

General protein information

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Preferred Names: Golgi SNAP receptor complex member 1

Names: 28 kDa Golgi SNARE protein; 28 kDa cis-Golgi SNARE p28; Golgi SNARE 28 kDa; cis-golgi SNARE; golgi integral membrane protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001007024.2 → NP_001007025.1 Golgi SNAP receptor complex member 1 isoform 3

See identical proteins and their annotated locations for NP_001007025.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) has an additional segment in one exon and lacks a small segment in another exon in the 5' region, as compared to variant 1. It uses a downstream AUG start codon, and the encoded isoform 3 thus has a shorter N-terminus, as compared to isoform 1.

Source sequence(s)

AC011840, AF047438, AK000606, AK074298, BC040072, BC040471, BG654545, CB054624

Consensus CDS

CCDS45644.1

UniProtKB/Swiss-Prot

O95249

Related

ENSP00000462638.1, ENST00000467337.6

Conserved Domains (1) summary

cd15864
Location:95 → 160

SNARE_GS28; SNARE motif of GS28
NM_001007025.2 → NP_001007026.1 Golgi SNAP receptor complex member 1 isoform 2

See identical proteins and their annotated locations for NP_001007026.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame small segment of 6 nts in the 5' coding region, as compared to variant 1. The encoded isoform 2 thus lacks internal 2 aa, as compared to isoform 1.

Source sequence(s)

AC011840, AK000606, AK074298, BC040072, BC040471, BE785872, CB054624

Consensus CDS

CCDS45643.1

UniProtKB/TrEMBL

A8K5R6, E9PCW1

Related

ENSP00000414441.2, ENST00000451249.7

Conserved Domains (1) summary

cd15864
Location:158 → 223

SNARE_GS28; SNARE motif of GS28
NM_004871.3 → NP_004862.1 Golgi SNAP receptor complex member 1 isoform 1

See identical proteins and their annotated locations for NP_004862.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC011840, AK000606, AK074298, BC040072, BC040471, CB054624

Consensus CDS

CCDS11258.1

UniProtKB/Swiss-Prot

J3KST5, O75392, O95249

UniProtKB/TrEMBL

A8K5R6

Related

ENSP00000225724.5, ENST00000225724.9

Conserved Domains (1) summary

cd15864
Location:160 → 225

SNARE_GS28; SNARE motif of GS28

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

30477408..30527592

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005258070.6 → XP_005258127.1 Golgi SNAP receptor complex member 1 isoform X1

UniProtKB/TrEMBL

A8K5R6

Conserved Domains (1) summary

cd15864
Location:210 → 275

SNARE_GS28; SNARE motif of GS28
XM_017025374.3 → XP_016880863.1 Golgi SNAP receptor complex member 1 isoform X3

UniProtKB/TrEMBL

A8K5R6
XM_005258071.6 → XP_005258128.1 Golgi SNAP receptor complex member 1 isoform X2

UniProtKB/TrEMBL

A8K5R6

Conserved Domains (1) summary

cd15864
Location:208 → 273

SNARE_GS28; SNARE motif of GS28
XM_047437109.1 → XP_047293065.1 Golgi SNAP receptor complex member 1 isoform X4

UniProtKB/TrEMBL

A8K5R6
XM_047437111.1 → XP_047293067.1 Golgi SNAP receptor complex member 1 isoform X7
XM_047437110.1 → XP_047293066.1 Golgi SNAP receptor complex member 1 isoform X7
XM_005258072.4 → XP_005258129.1 Golgi SNAP receptor complex member 1 isoform X7

See identical proteins and their annotated locations for XP_005258129.1

UniProtKB/Swiss-Prot

O95249

Conserved Domains (1) summary

cd15864
Location:95 → 160

SNARE_GS28; SNARE motif of GS28
XM_017025375.3 → XP_016880864.1 Golgi SNAP receptor complex member 1 isoform X5

UniProtKB/TrEMBL

K7EJC8

Related

ENSP00000465115.1, ENST00000581721.5
XM_017025376.3 → XP_016880865.1 Golgi SNAP receptor complex member 1 isoform X6

UniProtKB/TrEMBL

K7EJC8

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

31422038..31472230

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054317886.1 → XP_054173861.1 Golgi SNAP receptor complex member 1 isoform X7
XM_054317883.1 → XP_054173858.1 Golgi SNAP receptor complex member 1 isoform X5

UniProtKB/TrEMBL

K7EJC8
XM_054317884.1 → XP_054173859.1 Golgi SNAP receptor complex member 1 isoform X6

UniProtKB/TrEMBL

K7EJC8
XM_054317879.1 → XP_054173854.1 Golgi SNAP receptor complex member 1 isoform X1

UniProtKB/TrEMBL

A8K5R6
XM_054317880.1 → XP_054173855.1 Golgi SNAP receptor complex member 1 isoform X2

UniProtKB/TrEMBL

A8K5R6
XM_054317881.1 → XP_054173856.1 Golgi SNAP receptor complex member 1 isoform X3

UniProtKB/TrEMBL

A8K5R6
XM_054317887.1 → XP_054173862.1 Golgi SNAP receptor complex member 1 isoform X7
XM_054317885.1 → XP_054173860.1 Golgi SNAP receptor complex member 1 isoform X7
XM_054317882.1 → XP_054173857.1 Golgi SNAP receptor complex member 1 isoform X4

UniProtKB/TrEMBL

A8K5R6