1. Gene
  2. COG1 - component of oligomeric golgi complex 1 Gene

COG1 - component of oligomeric golgi complex 1 Gene

中文名称:低聚高尔基复合体 1 的成分

种属: Homo sapiens

同用名: LDLB; CDG2G

基因 ID: 9382 | 基因类型: protein coding

关于 COG1

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:73,193,055-73,208,507 (from NCBI)

This gene has 9 transcripts (splice variants), 208 orthologues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 16.2), testis (RPKM 14.0) 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) 。人们认为这种蛋白质是糖缀合物正常内侧和反式高尔基体相关加工步骤所必需的,并且在高尔基体定位复合体的组织中发挥作用。[RefSeq 提供,2008 年 7 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. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008]

COG1 基因产物(1)

mRNA Protein Name
NM_018714.3 NP_061184.1 conserved oligomeric Golgi complex subunit 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 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
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
11980916 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

COG1 蛋白结构

Vps51

Vps51: Vps51/Vps67 (16 - 91)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 980 a.a.
蛋白主名 其他名称

conserved oligomeric Golgi complex subunit 1

COG complex subunit 1

COG1 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
COG1 Q8WTW3 COG4 Homo sapiens Q9H9E3 33961781
种属内
COG1 Q8WTW3 COG4 Homo sapiens Q9H9E3 15047703
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 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

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 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

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

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 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

Congenital Disorder Of Glycosylation, Type Iid

CDG2D

Congenital Disorder Of Glycosylation Type Iid

Cdg Iid

Cdgiid

B4galt1-Cdg

Cdg-Iid

Congenital Disorder Of Glycosylation Type 2d

Beta-1,4-Galactosyltransferase Deficiency

Cdg Syndrome Type Iid

Carbohydrate Deficient Glycoprotein Syndrome Type Iid

Congenital Disorder Of Glycosylation 2d

Glycosylation, Congenital Disorder Of, Type Iid

Congenital Disorder Of Glycosylation, Type Iiid

Congenital Disorder Of Glycosylation, Type Iif

CDG2F

Congenital Disorder Of Glycosylation Type Iif

Cdg Iif

Cdgiif

Carbohydrate Deficient Glycoprotein Syndrome Type Iif

Cmp-Sialic Acid Transporter Deficiency

Slc35a1-Cdg

Cdg-Iif

Cdgiidf

Cdg Syndrome Type Iif

Congenital Disorder Of Glycosylation Type 2f

Congenital Disorder Of Glycosylation 2f

Glycosylation, Congenital Disorder Of, Type Iif

Congenital Disorder Of Glycosylation, Type Iik

CDG2K

Congenital Disorder Of Glycosylation Type Iik

Cdg Iik

Cdgiik

Carbohydrate Deficient Glycoprotein Syndrome Type Iik

Cdg Syndrome Type Iik

Congenital Disorder Of Glycosylation Type 2k

Tmem165-Cdg

Cdg-Iik

Cdgiidk

Congenital Disorder Of Glycosylation 2k

Glycosylation, Congenital Disorder Of, Type Iik

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3

Distal Spinal Muscular Atrophy Type 3

DSMA3

Spinal Muscular Atrophy, Chronic Distal, Autosomal Recessive

Autosomal Recessive Distal Spinal Muscular Atrophy Type 3

Dhmn3 And Dhmn4

Distal Hereditary Motor Neuropathy Type 3 And Type 4

Neuronopathy, Distal Hereditary Motor, Type Iv

Hmn4

Dhmn4

Neuropathy, Distal Hereditary Motor, Type Iv

Hmn Iv

Neuronopathy, Distal Hereditary Motor, Type Iii

Hmn3

Dhmn3

Hmn Iii

Galactosemia Iii

Galactose Epimerase Deficiency

Gale Deficiency

Udp-Galactose-4-Epimerase Deficiency

Epimerase Deficiency Galactosemia

Galactosemia Type 3

Gale-D

Uridine Diphosphate Galactose-4-Epimerase Deficiency

GALAC3

Galactosemia 3

Generalized Uridine Diphosphate Galactose-4-Epimerase Deficiency

Erythrocyte Uridine Diphosphate Galactose-4-Epimerase Deficiency

Galactosemia Type Iii

Udp-Galactose-4'-Epimerase Deficiency

Generalized Galactose Epimerase Deficiency

Generalized Gale Deficiency

Generalized Gale-D

Generalized Udp-Galactose-4-Epimerase Deficiency

Generalized Epimerase Deficiency Galactosemia

Erythrocyte Galactose Epimerase Deficiency

Erythrocyte Gale Deficiency

Erythrocyte Gale-D

Erythrocyte Udp-Galactose-4-Epimerase Deficiency

Erythrocyte Epimerase Deficiency Galactosemia

Galactosemias

Classical Galactosemia

Udpglucose 4-Epimerase Deficiency Disease

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

Congenital Disorder Of Glycosylation, Type Iia

CDG2A

Congenital Disorder Of Glycosylation Type Iia

Cdg Iia

Cdgiia

Congenital Disorder Of Glycosylation Type 2a

Alkuraya Syndrome

Mental Retardation, Growth Retardation, Prominent Columella, And Open Mouth

Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii

Mgat2-Cdg

Cdg-Iia

Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii, Formerly

Cdgs2, Formerly

Cdgs2

Cdg Syndrome Type Iia

Carbohydrate Deficient Glycoprotein Syndrome Type Iia

N-Acetylglucosaminyltransferase 2 Deficiency

Congenital Disorder Of Glycosylation 2a

Carbohydrate-Deficient Glycoprotein Syndrome Type Ii

Cdgs Type Ii

Carbohydrate-Deficient Glycoprotein Syndrome Type 2

Glycosylation, Congenital Disorder Of, Type Iia

Radioulnar Synostosis

Radio-Ulnar Synostosis Type 1

Granulomatous Disease, Chronic, X-Linked

CGDX

Chronic Granulomatous Disease, X-Linked

X-Linked Chronic Granulomatous Disease

Cgd

Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked

Cdgx

X-Linked Chronic Cytochrome B-Negative Granulomatous Disease

Chronic Granulomatous Disease Cytochrome B-Negative X-Linked

Chronic Granulomatous Disease Cytochrome B-Positive X-Linked

Granulomatous Disease, Chronic, X-Linked, Variant

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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
Felis catus COG1 VGNC VGNC:68029
Macaca mulatta COG1 VGNC VGNC:71383
Canis familiaris COG1 VGNC VGNC:39448
Rattus norvegicus COG1 RGD RGD:1304594
Bos taurus COG1 VGNC VGNC:27546
Mus musculus COG1 MGD MGI:1333873