GOSR1 - golgi SNAP receptor complex member 1 Gene

Homo sapiens

Also known as P28; GS28; GOS28; GOLIM2; GOS-28; GOS28/P28

Gene ID: 9527 | Gene type: protein coding

About GOSR1

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:30,477,408-30,527,592 (from NCBI)

This gene has 12 transcripts (splice variants) and 253 orthologues. Ubiquitous expression in thyroid (RPKM 7.3), kidney (RPKM 5.6) and 25 other tissues.

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]

GOSR1 Products(3)

mRNA	Protein	Name
NM_001007024.2	NP_001007025.1	Golgi SNAP receptor complex member 1 isoform 3
NM_001007025.2	NP_001007026.1	Golgi SNAP receptor complex member 1 isoform 2
NM_004871.3	NP_004862.1	Golgi SNAP receptor complex member 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables SNAP receptor activity	IDA IDA: Inferred from direct assay	15215310	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in retrograde transport, endosome to Golgi	IDA IDA: Inferred from direct assay	15215310	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	9464276	GOA
located in Golgi membrane	IDA IDA: Inferred from direct assay	21669198	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GOSR1 Protein Structure

V-SNARE_C

0
100
200
250 a.a.

Protein Preferred Names

Protein Names

Golgi SNAP receptor complex member 1

28 kDa Golgi SNARE protein

Related Diseases

Diseases

Alias

Congenital Disorder Of Glycosylation, Type Iig

CDG2G	Congenital Disorder Of Glycosylation Type Iig
Cdg Iig	Cdgiig
Cdgii/Cog1 Cerebrocostomandibular-Like Syndrome	Carbohydrate Deficient Glycoprotein Syndrome Type Iig
Cdg-Iig	Congenital Disorder Of Glycosylation, Type 2g
Cog1-Cdg	Cdg Syndrome Type Iig
Congenital Disorder Of Glycosylation Type 2g	Congenital Disorder Of Glycosylation 2g
Cdg-Ii Caused By Cog1 Deficiency	Glycosylation, Congenital Disorder Of, Type Iig

Griscelli Syndrome, Type 3

Griscelli Syndrome Type 3	GS3
Griscelli-Prunieras Syndrome Type 3	Hypomelanosis With No Immunologic Or Neurologic Manifestations
Griscelli Syndrome 3

Congenital Disorder Of Glycosylation, Type Iih

CDG2H	Congenital Disorder Of Glycosylation Type Iih
Cdg Iih	Cdgiih
Carbohydrate Deficient Glycoprotein Syndrome Type Iih	Congenital Disorder Of Glycosylation Type 2h
Cog8-Cdg	Cdg-Iih
Cdgiidh	Cdg Syndrome Type Iih
Congenital Disorder Of Glycosylation 2h	Glycosylation, Congenital Disorder Of, Type Iih

Immunodeficiency 47

Congenital Disorder Of Glycosylation Type Ii	CDG2E
Congenital Disorder Of Glycosylation Type Iie	IMD47
Cdg2s	Cdg Iis
Cdgiis	Immunodeficiency And Hepatopathy With Or Without Neurologic Features
Congenital Disorder Of Glycosylation, Type Ii	CDG1I
Congenital Disorder Of Glycosylation, Type Iie	Cdg Iie
Congenital Disorder Of Glycosylation Type 2e	Congenital Disorder Of Glycosylation, Type Iis
Cdg Ii	Cdgii
Cdgiie	Carbohydrate Deficient Glycoprotein Syndrome Type Iie
Cdg Syndrome Type Iie	Congenital Disorder Of Glycosylation Ii
Congenital Disorder Of Glycosylation 1i	Cdg-Iie
Alg2-Cdg	Cdg-Ii
Glycosylation, Congenital Disorder Of, Type Ii	Cdgiide
Congenital Disorder Of Glycosylation Type Iis	Cog7-Cdg
Cdg Syndrome Type Ii	Carbohydrate Deficient Glycoprotein Syndrome Type Ii
Congenital Disorder Of Glycosylation Type 1i	Mannosyltransferase 2 Deficiency
Congenital Disorder Of Glycosylation 2e	Congenital Disorder Of Glycosylation 2s
Congenital Disorders Of Glycosylation Type Ii	Glycosylation, Congenital Disorder Of, Type Iie
Immunodeficiency, Type 47	Congenital Disorder Of Glycosylation Type 2a

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation	CDG1N
Congenital Disorders Of Glycosylation	Cdg In
Cdgin	Congenital Disorder Of Glycosylation 1n
Carbohydrate-Deficient Glycoprotein Syndrome	Cdg
Rft1-Cdg	Cdg-In
Congenital Disorder Of Glycosylation Type In	Carbohydrate Deficient Glycoprotein Syndrome
Cdg Syndrome	Congenital Disorder Of Glycosylation In
Carbohydrate-Deficient Glycoprotein Syndromes	Cdg Syndrome Type In
Carbohydrate Deficient Glycoprotein Syndrome Type In	Congenital Disorder Of Glycosylation Type 1n
Man5glcnac2-Pp-Dol Flippase Deficiency	Glycosylation, Congenital Disorder Of
Glycosylation, Congenital Disorder Of, Type In

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05603	GOSR1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	GOSR1	VGNC	VGNC:41353
Macaca mulatta	GOSR1	VGNC	VGNC:73110
Mus musculus	GOSR1	MGD	MGI:1858260
Bos taurus	GOSR1	VGNC	VGNC:29500
Rattus norvegicus	GOSR1	RGD	RGD:71093

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