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

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
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  • 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

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 (P465-L977) ≥95%
HY-P73858 IRE1 Protein, Human (sf9) O75460 (P465-L977) ≥95%

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