1. Gene
  2. ERP27 - endoplasmic reticulum protein 27 Gene

ERP27 - endoplasmic reticulum protein 27 Gene

中文名称:内质网蛋白 27

种属: Homo sapiens

同用名: PDIA8; C12orf46

基因 ID: 121506 | 基因类型: protein coding

关于 ERP27

Cytogenetic location: 12p12.3 Genomic coordinates (GRCh38): 12:14,914,039-14,938,537 (from NCBI)

This gene has 3 transcripts (splice variants), 204 orthologues and 13 paralogues. Biased expression in pancreas (RPKM 211.6) and urinary bladder (RPKM 10.4).

功能概要

该基因编码内质网 (ER) 蛋白的蛋白质二硫键异构酶 (PDI) 家族的一个非催化成员。典型蛋白具有一个 N 端信号序列、两个硫氧还蛋白 (TRX) 样结构域和一个 C 端 ER 保留序列。可变剪接导致编码不同异构体的多个转录变体;其中一些缺少规范蛋白质中存在的结构域。[RefSeq 提供,2016 年 12 月]

This gene encodes a noncatalytic member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. The canonical protein has an N-terminal signal sequence, two thioredoxin (TRX)-like domains and a C-terminal ER-retention sequence. Alternative splicing results in multiple transcript variants encoding distinct isoforms; some of which lack domains present in the canonical protein. [provided by RefSeq, Dec 2016]

ERP27 基因产物(2)

mRNA Protein Name
NM_001300784.2 NP_001287713.1 endoplasmic reticulum resident protein 27 isoform 2
NM_152321.4 NP_689534.1 endoplasmic reticulum resident protein 27 isoform 1 precursor
基因本体论
  • 分子功能
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
18802093 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

ERP27 蛋白结构

Thioredoxin_6

Thioredoxin_6: Thioredoxin-like domain (64 - 250)

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

endoplasmic reticulum resident protein 27

ER protein 27

重组 ERP27 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70891 ERP27 Protein, Human (HEK293, His) Q96DN0 (E26-L273) ≥95%

关联疾病

疾病名称 别名
Mitochondrial Complex Iv Deficiency, Nuclear Type 5

Leigh Syndrome, French Canadian Type

Mitochondrial Complex V Deficiency Nuclear Type 4

Cytochrome C Oxidase Deficiency, French Canadian Type

Lsfc

Cox Deficiency, French Canadian Type

MC5DN4

MC4DN5

Cox Deficiency, Saguenay-Lac-Saint-Jean Type

Leigh Syndrome, Saguenay-Lac-Saint-Jean Type

Mitochondrial Complex V Deficiency, Nuclear Type 4

French Canadian Leigh Disease

Leigh Syndrome, French-Canadian Type

Leigh Syndrome , French Canadian Type

Mitochondrial Complex V Deficiency, Atp5a1 Type

French Canadian Type Cox Deficiency

French Canadian Type Cytochrome C Oxidase Deficiency

French Canadian Type Leigh Syndrome

Saguenay Lac Saint Jean Type Cox Deficiency

Saguenay Lac Saint Jean Type Leigh Syndrome

Cox Deficiency, Saguenay Lac Saint Jean Type

Leigh Syndrome, Saguenay Lac Saint Jean Type

Mitochondrial Complex V Deficiency, Nuclear Type 4

Mitochondrial Complex V Deficiency Atp5a1 Type

Mitochondrial Complex V Deficiency Type 4

Mitochondrial Complex V Deficiency, Nuclear, Type 4

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 ERP27 VGNC VGNC:61956
Canis familiaris ERP27 VGNC VGNC:54942
Rattus norvegicus ERP27 RGD RGD:1565381
Mus musculus ERP27 MGD MGI:1916437
Macaca mulatta ERP27 VGNC VGNC:72369
Bos taurus ERP27 VGNC VGNC:56198
Others ERP27 NCBI