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  2. GOSR1 - golgi SNAP receptor complex member 1 Gene

GOSR1 - golgi SNAP receptor complex member 1 Gene

中文名称:高尔基体 SNAP 受体复合体成员 1

种属: Homo sapiens

同用名: P28; GS28; GOS28; GOLIM2; GOS-28; GOS28/P28

基因 ID: 9527 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种运输膜蛋白,它在内质网和高尔基体之间以及高尔基体之间运输蛋白质。这种蛋白质被认为是高尔基体 SNAP 受体 (SNARE) 复合体的重要组成部分。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2008 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables SNAP receptor activity IDA
IDA: 通过直接分析推断
15215310 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in retrograde transport, endosome to Golgi IDA
IDA: 通过直接分析推断
15215310 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
9464276 GOA
located in Golgi membrane IDA
IDA: 通过直接分析推断
21669198 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

GOSR1 蛋白结构

V-SNARE_C

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

  • 0
  • 100
  • 200
  • 250 a.a.
蛋白主名 其他名称

Golgi SNAP receptor complex member 1

28 kDa Golgi SNARE protein

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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