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  2. ECE1 - endothelin converting enzyme 1 Gene

ECE1 - endothelin converting enzyme 1 Gene

中文名称:内皮素转化酶 1

种属: Homo sapiens

同用名: ECE

基因 ID: 1889 | 基因类型: protein coding

关于 ECE1

Cytogenetic location: 1p36.12 Genomic coordinates (GRCh38): 1:21,217,250-21,345,504 (from NCBI)

This gene has 14 transcripts (splice variants), 230 orthologues, 6 paralogues and is associated with 3 phenotypes. Ubiquitous expression in adrenal (RPKM 34.3), fat (RPKM 29.1) and 25 other tissues.

功能概要

由该基因编码的蛋白质参与将内皮素前体蛋白水解加工成生物活性肽。该基因的突变与先天性巨结肠、心脏缺陷和自主神经功能障碍有关。已注意到该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2009 年 9 月]

The protein encoded by this gene is involved in proteolytic processing of endothelin precursors to biologically active Peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Sep 2009]

ECE1 基因产物(4)

mRNA Protein Name
NM_001113347.2 NP_001106818.1 endothelin-converting enzyme 1 isoform 3
NM_001113348.2 NP_001106819.1 endothelin-converting enzyme 1 isoform 4
NM_001113349.2 NP_001106820.1 endothelin-converting enzyme 1 isoform 2
NM_001397.3 NP_001388.1 endothelin-converting enzyme 1 isoform 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 endopeptidase activity IDA
IDA: 通过直接分析推断
7805846 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
enables protein homodimerization activity IPI
IPI: 通过物理相互作用推断
7805846 GOA
enables zinc ion binding IDA
IDA: 通过直接分析推断
18992253 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in bradykinin catabolic process IDA
IDA: 通过直接分析推断
18039931 GOA
involved in calcitonin catabolic process IDA
IDA: 通过直接分析推断
18039931 GOA
involved in ear development IMP
IMP: 通过突变表型推断
9915973 GOA
involved in embryonic digit morphogenesis IMP
IMP: 通过突变表型推断
9915973 GOA
involved in endothelin maturation IDA
IDA: 通过直接分析推断
7805846 GOA
involved in heart development IMP
IMP: 通过突变表型推断
9915973 GOA
involved in hormone catabolic process IDA
IDA: 通过直接分析推断
7864876 GOA
involved in peptide hormone processing IDA
IDA: 通过直接分析推断
7864876 GOA
involved in positive regulation of receptor recycling IMP
IMP: 通过突变表型推断
18039931 GOA
involved in protein processing IDA
IDA: 通过直接分析推断
7805846 GOA
involved in substance P catabolic process IDA
IDA: 通过直接分析推断
18039931 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Weibel-Palade body IDA
IDA: 通过直接分析推断
9710124 GOA
located in early endosome IDA
IDA: 通过直接分析推断
18039931 GOA
located in endosome IDA
IDA: 通过直接分析推断
18039931 GOA
located in external side of plasma membrane IDA
IDA: 通过直接分析推断
9449382 GOA
located in membrane IDA
IDA: 通过直接分析推断
7805846 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
9710124 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
18039931 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

ECE1 蛋白结构

Peptidase_M13_N

Peptidase_M13_N: Peptidase family M13 (122 - 507)

Peptidase_M13

Peptidase_M13: Peptidase family M13 (566 - 769)

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

endothelin-converting enzyme 1

ECE-1

重组 ECE1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70035 ECE-1 Protein, Human (HEK293, His) P42892 (Q90-W770) ≥95%

关联疾病

疾病名称 别名
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction

HCAD

Hirschsprung Disease, Cardiac Defects, Autonomic Dysfunction

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Hirschsprung Disease 1

Hirschsprung Disease

Aganglionic Megacolon

Hscr

Hirschsprung'S Disease

Congenital Megacolon

Congenital Intestinal Aganglionosis

Colonic Aganglionosis

Hirschsprung Disease, Susceptibility To, 1

Hirschsprung Disease, Protection Against

HSCR1

Mgc

Pelvirectal Achalasia

Total Intestinal Aganglionosis

Megacolon, Aganglionic

Macrocolon

Hscr 1

Hirschsprung Disease Type 1

Hirschsprung Disease, Type 1

Congenital Dilatation Of Colon

Aganglionosis

Congenital Aganglionic Megacolon

Aganglionosis Of Colon

Bowel Aganglionosis

Colon Aganglionosis

Hirschsprung Megacolon

Congenital Central Hypoventilation Syndrome

Cchs

Haddad Syndrome

Ondine Curse

Ondine Syndrome

Congenital Central Hypoventilation

Congenital Central Alveolar Hypoventilation Syndrome

Congenital Failure Of Autonomic Control

Ondine'S Curse

Primary Alveolar Hypoventilation

Ondine-Hirschsprung Disease

Central Congenital Hypoventilation Syndrome

Congenital Ondine Curse

Idiopathic Congenital Central Alveolar Hypoventilation

Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome

Ondine-Hirschsprung Syndrome

Denture Stomatitis

Stomatitis, Denture

Denture Sore Mouth

Sudden Infant Death Syndrome

SIDS

Sudden Infant Death Syndrome, Susceptibility To

Cot Death

Crib Death

Sudden Death Of Nonspecific Cause In Infancy

Sudden Infant Death

Death, Sudden, Syndrome, Infant

Ventricular Septal Defect

Ventricular Septal Defects

Interventricular Septal Defect

Heart Septal Defects, Ventricular

Ventricular Septal Abnormality

Interventricular Septum Defect

Ventricular Septum Defect

Vsd - [Ventricular Septum Defect]

Congenital Ventricular Septal Defect

Single Ventricular Septal Defect

Vulvovaginal Candidiasis

Candidiasis Of Vulva And Vagina

Candidiasis, Vulvovaginal

Candidal Vulvovaginitis

Candidal: Cervix

Monilial Vulvovaginitis

Candidiasis Vulvovaginal

Amyotrophic Lateral Sclerosis 4, Juvenile

Amyotrophic Lateral Sclerosis Type 4

ALS4

Amyotrophic Lateral Sclerosis 4

Dhmn With Upper Motor Neuron Signs

Distal Hereditary Motor Neuropathy With Upper Motor Neuron Signs

Neuronopathy, Distal Hereditary Motor, With Pyramidal Features

Als 4

Distal Hereditary Motor Neuropathy With Pyramidal Features

Amyotrophic Lateral Sclerosis Juvenile 4

Neuronopathy Distal Hereditary Motor With Pyramidal Features

Sclerosis, Lateral, Amyotrophic, Type Type 4

Vaginal Disease

Vaginal Diseases

Oral Candidiasis

Thrush

Candidiasis Of Mouth

Oral Moniliasis

Thrush, Oral

Candidiasis, Oral

Oral Thrush

Candidiasis

Equine Thrush

Pulmonary Hypertension

Primary Pulmonary Hypertension

Hypertension Pulmonary

Hypertension, Pulmonary

Hypertension, Pulmonary, Primary

Idiopathic Pulmonary Hypertension

Idiopathic Pulmonary Arterial Hypertension

Pulmonary Htn - [Hypertension]

Opportunistic Mycosis

Opportunistic Mycoses

Opportunistic Systemic Mycoses

Megacolon

Dilatation Of Colon

Vulvovaginitis

Vulvo-Vaginitis

Cardiovascular System Disease

Abnormality Of The Cardiovascular System

Cardiovascular Disease

Disease Of Subdivision Of Hemolymphoid System

Disorder Of Cardiovascular System

Cardiovascular Diseases

Fungal Infectious Disease

Mycoses

Mycosis

Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome

Deletion 1p36

Monosomy 1p36

Subtelomeric 1p36 Deletion

Monosomy 1p36 Syndrome

Distal Monosomy 1p36

Del(1)(P36)

Deletion 1pter

Monosomy 1pter

Waardenburg'S Syndrome

Waardenburg Syndrome

Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome

Van Der Hoeve Halbertsona Waardenburg Syndrome

Waardenburg Shah Syndrome

Waardenburg, Types I And/Or Ii

Mende Syndrome

Waardenburgs Syndrome

Waardenburg Syndrome, Type 4a

Mowat-Wilson Syndrome

MOWS

Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease

Hirschsprung Disease-Mental Retardation Syndrome

Mowat-Wilson Syndrome Due To Monosomy 2q22

Hirschsprung Disease Mental Retardation Syndrome

Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease

Hirschsprung Disease - Intellectual Disability Syndrome

Hirschsprung Disease Intellectual Disability Syndrome

Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease

Mws

Hirschsprung Disease-Intellectual Disability Syndrome

Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion

Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22)

Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22

Mowat-Wilson Syndrome Due To 2q22 Microdeletion

Mowat-Wilson Syndrome Due To Del(2)Q(22)

Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation

Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

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
Bos taurus ECE1 VGNC VGNC:28302
Mus musculus ECE1 MGD MGI:1101357
Canis familiaris ECE1 VGNC VGNC:40181
Rattus norvegicus ECE1 RGD RGD:620293
Felis catus ECE1 VGNC VGNC:61707
Macaca mulatta ECE1 VGNC VGNC:72150