1. Gene
  2. ERN1 - endoplasmic reticulum to nucleus signaling 1 Gene

ERN1 - endoplasmic reticulum to nucleus signaling 1 Gene

中文名称:内质网到细胞核信号 1

种属: Homo sapiens

同用名: IRE1; IRE1P; IRE1a; hIRE1p

基因 ID: 2081 | 基因类型: protein coding

关于 ERN1

Cytogenetic location: 17q23.3 Genomic coordinates (GRCh38): 17:64,039,142-64,130,144 (from NCBI)

This gene has 10 transcripts (splice variants), 133 orthologues and 1 paralogue. Ubiquitous expression in adrenal (RPKM 14.0), pancreas (RPKM 8.7) and 24 other tissues.

功能概要

该基因编码跨膜蛋白激酶肌醇需要酶 1。编码的蛋白质包含两个功能性催化结构域,一个丝氨酸/苏氨酸蛋白激酶结构域和一个内切核糖核酸酶结构域。这种蛋白质用作内质网 (ER) 中未折叠蛋白质的传感器,并触发称为未折叠蛋白质反应 (UPR) 的细胞内信号通路。 UPR 是一种 ER 应激反应,从酵母到哺乳动物都是保守的,并激活参与降解错误折叠蛋白质、调节蛋白质合成和激活分子伴侣的基因。这种蛋白质特异性介导应激反应转录因子 X-box 结合蛋白 1 的剪接和激活。[RefSeq 提供,2017 年 8 月]

This gene encodes the transmembrane protein kinase inositol-requiring Enzyme 1. The encoded protein contains two functional catalytic domains, a serine/threonine-protein kinase domain and an endoribonuclease domain. This protein functions as a sensor of unfolded proteins in the endoplasmic reticulum (ER) and triggers an intracellular signaling pathway termed the unfolded protein response (UPR). The UPR is an ER stress response that is conserved from yeast to mammals and activates genes involved in degrading misfolded proteins, regulating protein synthesis and activating molecular chaperones. This protein specifically mediates the splicing and activation of the stress response transcription factor X-box binding protein 1. [provided by RefSeq, Aug 2017]

ERN1 基因产物(3)

mRNA Protein Name
XM_047435591.1 XP_047291547.1 serine/threonine-protein kinase/endoribonuclease IRE1 isoform X1
NM_152461.2
NM_001433.5 NP_001424.3 serine/threonine-protein kinase/endoribonuclease IRE1 precursor
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 ADP binding IDA
IDA: 通过直接分析推断
21317875 GOA
enables ATP binding IDA
IDA: 通过直接分析推断
9637683 GOA
enables Hsp70 protein binding IPI
IPI: 通过物理相互作用推断
20625543 GOA
enables Hsp90 protein binding IDA
IDA: 通过直接分析推断
12446770 GOA
enables RNA endonuclease activity IDA
IDA: 通过直接分析推断
9637683 GOA
enables enzyme binding IPI
IPI: 通过物理相互作用推断
23103912 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
12637535 GOA
enables magnesium ion binding IDA
IDA: 通过直接分析推断
9637683 GOA
enables platelet-derived growth factor receptor binding IPI
IPI: 通过物理相互作用推断
26315405 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11278723 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
29198525 GOA
enables protein homodimerization activity IPI
IPI: 通过物理相互作用推断
21317875 GOA
enables protein serine/threonine kinase activity IDA
IDA: 通过直接分析推断
9637683 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in IRE1-mediated unfolded protein response IDA
IDA: 通过直接分析推断
9637683 GOA
involved in IRE1-mediated unfolded protein response IMP
IMP: 通过突变表型推断
28128204 GOA
involved in cellular response to glucose stimulus IDA
IDA: 通过直接分析推断
20103773 GOA
involved in cellular response to unfolded protein IDA
IDA: 通过直接分析推断
19328063 GOA
involved in cellular response to unfolded protein IMP
IMP: 通过突变表型推断
20625543 GOA
involved in cellular response to vascular endothelial growth factor stimulus IDA
IDA: 通过直接分析推断
23529610 GOA
involved in endothelial cell proliferation IDA
IDA: 通过直接分析推断
23529610 GOA
involved in insulin metabolic process IDA
IDA: 通过直接分析推断
20103773 GOA
involved in mRNA splicing, via endonucleolytic cleavage and ligation IDA
IDA: 通过直接分析推断
11779464 GOA
involved in mRNA splicing, via endonucleolytic cleavage and ligation IMP
IMP: 通过突变表型推断
20625543 GOA
involved in peptidyl-serine autophosphorylation IDA
IDA: 通过直接分析推断
20103773 GOA
involved in peptidyl-serine trans-autophosphorylation IMP
IMP: 通过突变表型推断
21317875 GOA
involved in positive regulation of JUN kinase activity IDA
IDA: 通过直接分析推断
10650002 GOA
involved in positive regulation of RNA splicing IDA
IDA: 通过直接分析推断
11779464 GOA
involved in positive regulation of endoplasmic reticulum unfolded protein response IMP
IMP: 通过突变表型推断
28128204 GOA
involved in positive regulation of vascular associated smooth muscle cell proliferation IMP
IMP: 通过突变表型推断
26315405 GOA
involved in protein autophosphorylation IDA
IDA: 通过直接分析推断
9637683 GOA
involved in protein phosphorylation IDA
IDA: 通过直接分析推断
9637683 GOA
involved in response to endoplasmic reticulum stress IDA
IDA: 通过直接分析推断
10650002 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of IRE1-RACK1-PP2A complex IDA
IDA: 通过直接分析推断
20103773 GOA
part of IRE1-TRAF2-ASK1 complex IDA
IDA: 通过直接分析推断
23000344 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
19622636 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
23529610 GOA
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
9637683 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

ERN1 蛋白结构

Pkinase

Pkinase: Protein kinase domain (574 - 832)

Ribonuc_2-5A

Ribonuc_2-5A: Ribonuclease 2-5A (837 - 961)

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

serine/threonine-protein kinase/endoribonuclease IRE1

ER to nucleus signalling 1

inositol-requiring 1

inositol-requiring enzyme 1

inositol-requiring protein 1

ire1-alpha

protein kinase/endoribonuclease

ERN1 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
ERN1 O75460 TAOK3 Homo sapiens Q9H2K8
Y2H
11278723
种属内
ERN1 O75460 TAOK3 Homo sapiens Q9H2K8 11278723
种属内
ERN1 O75460 YIPF5 Homo sapiens Q969M3 25742138
种属内
ERN1 O75460 YIPF5 Homo sapiens Q969M3 25742138
种属内
ERN1 O75460 HSPA5 Homo sapiens P11021 27238082
种属内
ERN1 O75460 TRAF2 Homo sapiens Q12933 11278723
种属内
ERN1 O75460 TRAF2 Homo sapiens Q12933 11278723
种属内
ERN1 O75460 ERN1 Homo sapiens O75460 12637535
种属内
ERN1 O75460 BAX Homo sapiens Q07812 16645094
种属内
ERN1 O75460 ERN1 Homo sapiens O75460 21317875
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 ERN1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P73256 IRE1 Protein, Human (sf9, His-GST) O75460-1 (P465-L977) ≥95%
HY-P73858 IRE1 Protein, Human (sf9) O75460-1 (P465-L977) ≥95%

ERN1 抗体

目录号 产品名 应用 反应物种
HY-P80828 Phospho-IRE1 (Ser724) Antibody WB, IP Human

关联疾病

疾病名称 别名
Diabetes Mellitus

Diabetes

Diabetic Encephalopathy
Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Wolfram Syndrome

Didmoad Syndrome

Didmoad

Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness

Wfs

Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, And Deafness

Didmoadud

Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome

Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Hearing Loss Syndrome

Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Diabetes Mellitus, Non-Insulin-Dependent

Type 2 Diabetes

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus

Wolcott-Rallison Syndrome

Med-Iddm Syndrome

Iddm-Med Syndrome

Wolcott Rallison Syndrome

WRS

Epiphyseal Dysplasia Multiple With Early-Onset Diabetes Mellitus

Early-Onset Diabetes Mellitus With Multiple Epiphyseal Dysplasia

Multiple Epiphyseal Dysplasia With Early-Onset Diabetes Mellitus

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Cancer Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

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
Macaca mulatta ERN1 VGNC VGNC:72429
Bos taurus ERN1 VGNC VGNC:58373
Canis familiaris ERN1 VGNC VGNC:40464
Rattus norvegicus ERN1 RGD RGD:1559716
Felis catus ERN1 VGNC VGNC:61952
Mus musculus ERN1 MGD MGI:1930134
Others ERN1 NCBI