GOSR1 - golgi SNAP receptor complex member 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9527

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
Molecular Function GO Annotation Evidence References Source
enables SNAP receptor activity IDA
IDA: Inferred from direct assay
15215310 GOA
Biological Process GO Annotation Evidence References Source
involved in retrograde transport, endosome to Golgi IDA
IDA: Inferred from direct assay
15215310 GOA
Cellular Component GO Annotation Evidence References 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

V-SNARE_C: Snare region anchored in the vesicle membrane C-terminus (161 - 226)

  • 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

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