1. Gene
  2. COG5 - component of oligomeric golgi complex 5 Gene

COG5 - component of oligomeric golgi complex 5 Gene

中文名称:低聚高尔基复合体 5 的成分

种属: Homo sapiens

同用名: CDG2I; GTC90; GOLTC1

基因 ID: 10466 | 基因类型: protein coding

关于 COG5

Cytogenetic location: 7q22.3 Genomic coordinates (GRCh38): 7:107,201,372-107,563,920 (from NCBI)

This gene has 10 transcripts (splice variants), 1 gene allele, 215 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 12.7), prostate (RPKM 10.2) and 25 other tissues.

功能概要

由该基因编码的蛋白质是八种蛋白质 (Cog1-8) 中的一种,它们形成正常高尔基体形态和功能所需的高尔基体定位复合体 (COG) 。编码的蛋白质与保守的低聚高尔基体复合体成分 6、7 和 8 组织成一个称为叶 B 的子复合体。可变剪接导致多个转录变体。该基因的突变导致 2I 型糖基化先天性疾病。[RefSeq 提供,2011 年 1 月]

The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. The encoded protein is organized with conserved oligomeric Golgi complex components 6, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants. Mutations in this gene result in congenital disorder of glycosylation type 2I.[provided by RefSeq, Jan 2011]

COG5 基因产物(9)

mRNA Protein Name
NM_001161520.2 NP_001154992.2 conserved oligomeric Golgi complex subunit 5 isoform 3
NM_001379511.1 NP_001366440.1 conserved oligomeric Golgi complex subunit 5 isoform 4
NM_001379512.1 NP_001366441.1 conserved oligomeric Golgi complex subunit 5 isoform 5
NM_001379513.1 NP_001366442.1 conserved oligomeric Golgi complex subunit 5 isoform 6
NM_001379514.1 NP_001366443.1 conserved oligomeric Golgi complex subunit 5 isoform 7
NM_001379515.1 NP_001366444.1 conserved oligomeric Golgi complex subunit 5 isoform 8
NM_001379516.1 NP_001366445.1 conserved oligomeric Golgi complex subunit 5 isoform 9
NM_006348.5 NP_006339.4 conserved oligomeric Golgi complex subunit 5 isoform 1
NM_181733.4 NP_859422.3 conserved oligomeric Golgi complex subunit 5 isoform 2
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
15047703 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Golgi organization IMP
IMP: 通过突变表型推断
27066481 GOA
involved in glycosylation IMP
IMP: 通过突变表型推断
27066481 GOA
acts upstream of or within inter-Golgi cisterna vesicle-mediated transport IDA
IDA: 通过直接分析推断
9792665 GOA
involved in retrograde transport, vesicle recycling within Golgi IMP
IMP: 通过突变表型推断
27066481 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
9792665 GOA
part of Golgi transport complex IDA
IDA: 通过直接分析推断
15047703 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

COG5 蛋白结构

COG5

COG5: Golgi transport complex subunit 5 (66 - 189)

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

conserved oligomeric Golgi complex subunit 5

13S golgi transport complex 1 90 kDa subunit

COG5 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
COG5 Q9UP83 COG4 Homo sapiens Q9H9E3
Anti Tag CoIP
33961781
种属内
COG5 Q9UP83 COG4 Homo sapiens Q9H9E3
CoIP
15047703
种属内
COG5 Q9UP83 COG7 Homo sapiens P83436
CoIP
15047703
种属内
COG5 Q9UP83 COG7 Homo sapiens P83436
Anti Tag CoIP
33961781
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Congenital Disorder Of Glycosylation, Type Iii

CDG2I

Congenital Disorder Of Glycosylation Type Iii

Cdgiii

Carbohydrate Deficient Glycoprotein Syndrome Type Iii

Congenital Disorder Of Glycosylation Type 2i

Cog5-Cdg

Cdgiidi

Congenital Disorder Of Glycosylation 2i

Glycosylation, Congenital Disorder Of, Type Iii

Congenital Disorder Of Glycosylation, Type I-Iix

Cog5-Congenital Disorder Of Glycosylation

Carbohydrate Deficient Glycoprotein Syndrome Type Iii

Cdg2i

Cdgiii

Congenital Disorder Of Glycosylation Type Iii

Congenital Disorder Of Glycosylation, Type I-Iix

Congenital Disorder Of Glycosylation, Type Iii

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

Saul-Wilson Syndrome

Microcephalic Osteodysplastic Dysplasia

Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type

SWILS

Microcephalic Osteodysplastic Dysplasia Saul Wilson Type

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 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

Developmental And Epileptic Encephalopathy 36

Congenital Disorder Of Glycosylation Type I

Epileptic Encephalopathy, Early Infantile, 36

Congenital Disorder Of Glycosylation, Type Is

Cdg1s

Congenital Disorder Of Glycosylation, Type Ie

CDG1E

Congenital Disorder Of Glycosylation Type 1e

DEE36

Eiee36

Cdg Is

Cdgis

Congenital Disorder Of Glycosylation Ie

Congenital Disorder Of Glycosylation 1e

Cdg-Is

Congenital Disorder Of Glycosylation Type Is

Developmental And Epileptic Encephalopathy, 36

Cdg Ie

Cdgie

Early Infantile Epileptic Encephalopathy 36

Alg13-Cdg

Cdg Syndrome Type Is

Congenital Disorder Of Glycosylation Type 1s

Dpm1-Cdg

Cdg Syndrome Type Ie

Cdg-Ie

Carbohydrate Deficient Glycoprotein Syndrome Type Ie

Congenital Disorder Of Glycosylation Type Ie

Dol-P-Mannosyltransferase Deficiency

Congenital Disorder Of Glycosylation 1s

Glycosylation, Congenital Disorder Of, Type I

Glycosylation, Congenital Disorder Of, Type Ie

Congenital Disorder Of Glycosylation Type 1a

Congenital Disorder Of Glycosylation, Type Iu

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

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

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

Visual Cortex Disease

Visual Cortex Dysfunction

Visual Cortex Disorder

Visual Cortical Disorder

Disease Of Visual Cortex

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

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 COG5 VGNC VGNC:53634
Mus musculus COG5 MGD MGI:2145130
Rattus norvegicus COG5 RGD RGD:1563296
Macaca mulatta COG5 VGNC VGNC:71180
Canis familiaris COG5 VGNC VGNC:39451
Felis catus COG5 VGNC VGNC:61048