1. Gene
  2. COG3 - component of oligomeric golgi complex 3 Gene

COG3 - component of oligomeric golgi complex 3 Gene

中文名称:低聚高尔基复合体 3 的成分

种属: Homo sapiens

同用名: SEC34

基因 ID: 83548 | 基因类型: protein coding

关于 COG3

Cytogenetic location: 13q14.13 Genomic coordinates (GRCh38): 13:45,464,939-45,536,701 (from NCBI)

This gene has 7 transcripts (splice variants) and 210 orthologues. Ubiquitous expression in thyroid (RPKM 12.6), prostate (RPKM 12.2) and 25 other tissues.

功能概要

该基因编码保守的低聚高尔基体 (COG) 复合体的一个组成部分,该复合体由八个不同的亚基组成,是正常高尔基体形态和定位所必需的。 COG 复合体的缺陷导致蛋白质糖基化的多种缺陷。该基因编码的蛋白质参与 ER-Golgi 转运。[RefSeq 提供,2011 年 6 月]

This gene encodes a component of the conserved oligomeric Golgi (COG) complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Defects in the COG complex result in multiple deficiencies in protein glycosylation. The protein encoded by this gene is involved in ER-Golgi transport.[provided by RefSeq, Jun 2011]

COG3 基因产物(1)

mRNA Protein Name
NM_031431.4 NP_113619.3 conserved oligomeric Golgi complex subunit 3
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 protein binding IPI
IPI: 通过物理相互作用推断
19536132 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Golgi organization IGI
IGI: 通过遗传相互作用推断
20163571 GOA
involved in Golgi organization IMP
IMP: 通过突变表型推断
20163571 GOA
involved in endoplasmic reticulum to Golgi vesicle-mediated transport IDA
IDA: 通过直接分析推断
11929878 GOA
involved in glycosylation IMP
IMP: 通过突变表型推断
27066481 GOA
involved in intra-Golgi vesicle-mediated transport IDA
IDA: 通过直接分析推断
11929878 GOA
involved in protein glycosylation IMP
IMP: 通过突变表型推断
16420527 GOA
involved in protein localization to organelle IMP
IMP: 通过突变表型推断
16420527 GOA
involved in protein stabilization IMP
IMP: 通过突变表型推断
16420527 GOA
involved in retrograde transport, vesicle recycling within Golgi IMP
IMP: 通过突变表型推断
27066481 GOA
involved in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IMP
IMP: 通过突变表型推断
16420527 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
11980916 GOA
part of Golgi transport complex IDA
IDA: 通过直接分析推断
11292827 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

COG3 蛋白结构

Sec34

Sec34: Sec34-like family (126 - 282)

  • 0
  • 200
  • 400
  • 600
  • 828 a.a.
蛋白主名 其他名称

conserved oligomeric Golgi complex subunit 3

COG complex subunit 3

关联疾病

疾病名称 别名
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

Congenital Disorder Of Glycosylation, Type Iij

CDG2J

Congenital Disorder Of Glycosylation Type Iij

Cdg Iij

Cdgiij

Carbohydrate Deficient Glycoprotein Syndrome Type Iij

Cdg Syndrome Type Iij

Congenital Disorder Of Glycosylation Type 2j

Cog4-Cdg

Cdg-Iij

Cdgiidj

Congenital Disorder Of Glycosylation 2j

Glycosylation, Congenital Disorder Of, Type Iij

Cone-Rod Dystrophy, X-Linked, 2

CORDX2

Cod2

X-Linked Cone-Rod Dystrophy 2

Cone Dystrophy 2, X-Linked

Cone Dystrophy, Progressive X-Linked, 2

X-Linked Cone Dystrophy 2

Cone-Rod Dystrophy X-Linked 2

Cone Dystrophy X-Linked 2

Cone Dystrophy-2, X-Linked

Saul-Wilson Syndrome

Microcephalic Osteodysplastic Dysplasia

Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type

SWILS

Microcephalic Osteodysplastic Dysplasia Saul Wilson Type

Congenital Disorder Of Glycosylation, Type Iil

CDG2L

Congenital Disorder Of Glycosylation Type Iil

Cdg Iil

Cog6-Cgd

Cdgiil

Cdg Syndrome Type Iil

Congenital Disorder Of Glycosylation Type 2l

Cdg-Iil

Cdgiidl

Congenital Disorder Of Glycosylation 2l

Glycosylation, Congenital Disorder Of, Type Iil

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

Geroderma Osteodysplasticum

Gerodermia Osteodysplastica

Geroderma Osteodysplastica

GO

Walt Disney Dwarfism

Type Of Gerodermia Osteodysplastica

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
Bos taurus COG3 VGNC VGNC:27548
Mus musculus COG3 MGD MGI:2450151
Canis familiaris COG3 VGNC VGNC:39449
Macaca mulatta COG3 VGNC VGNC:71205
Rattus norvegicus COG3 RGD RGD:1304555
Felis catus COG3 VGNC VGNC:61046