1. Gene
  2. COPE - COPI coat complex subunit epsilon Gene

COPE - COPI coat complex subunit epsilon Gene

中文名称:COPI 外壳复杂亚基 epsilon

种属: Homo sapiens

同用名: epsilon-COP

基因 ID: 11316 | 基因类型: protein coding

关于 COPE

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:18,899,514-18,919,387 (from NCBI)

This gene has 11 transcripts (splice variants) and 207 orthologues. Ubiquitous expression in testis (RPKM 53.6), bone marrow (RPKM 48.5) and 25 other tissues.

功能概要

该基因的产物是外壳蛋白复合物的一个 epsilon 亚基。 Coatomer 是一种胞质蛋白复合物,可与二赖氨酸基序结合并可逆地与高尔基体非网格蛋白包被的囊泡结合。它是从高尔基体膜出芽所必需的,并且对于双赖氨酸标记蛋白的逆行高尔基体到内质网的运输至关重要。 Coatomer complex 至少由 α、β、β'、γ、δ、ε 和 zeta 亚基组成。已经鉴定出编码不同亚型的选择性剪接转录物变体。[RefSeq 提供,2008 年 7 月]

The product of this gene is an epsilon subunit of coatomer protein complex. Coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles. It is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. Coatomer complex consists of at least the alpha, beta, beta', gamma, delta, epsilon and zeta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

COPE 基因产物(4)

mRNA Protein Name
NM_001330469.2 NP_001317398.1 coatomer subunit epsilon isoform d
NM_007263.4 NP_009194.2 coatomer subunit epsilon isoform a
NM_199442.2 NP_955474.1 coatomer subunit epsilon isoform b
NM_199444.2 NP_955476.1 coatomer subunit epsilon isoform c

COPE 蛋白结构

Coatomer_E

Coatomer_E: Coatomer epsilon subunit (16 - 305)

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

coatomer subunit epsilon

coatomer epsilon subunit

关联疾病

疾病名称 别名
Neuroschistosomiasis
Cardiomyopathy, Familial Restrictive, 2

RCM2

Restrictive Cardiomyopathy 2

Familial Restrictive Cardiomyopathy 2

Cardiomyopathy, Restrictive, Familial, Type 2

Developmental And Epileptic Encephalopathy 48

DEE48

Epileptic Encephalopathy, Early Infantile, 48

Eiee48

Developmental And Epileptic Encephalopathy, 48

Early Infantile Epileptic Encephalopathy 48

Spastic Paraplegia 39, Autosomal Recessive

SPG39

Ntemnd

Hereditary Spastic Paraplegia 39

Nte-Related Motor Neuron Disorder

Autosomal Recessive Spastic Paraplegia Type 39

Spastic Paraplegia Due To Neuropathy Target Esterase Mutation

Spastic Paraplegia Due To Nte Mutation

Spastic Paraplegia 39

Autosomal Recessive Spastic Paraplegia 39

Nte Related Motor Neuron Disorder

Paraplegia, Spastic, Type 39

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
Rattus norvegicus COPE RGD RGD:1306785
Canis familiaris COPE VGNC VGNC:39506
Felis catus COPE VGNC VGNC:61083
Mus musculus COPE MGD MGI:1891702
Macaca mulatta COPE VGNC VGNC:71314
Bos taurus COPE VGNC VGNC:27595
Others COPE NCBI