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  2. GOSR1 - golgi SNAP receptor complex member 1 Gene

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

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