ECE1 - endothelin converting enzyme 1 Gene

Homo sapiens

Also known as ECE

Gene ID: 1889 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables endopeptidase activity	IDA IDA: Inferred from direct assay	7805846	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	7805846	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	18992253	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in bradykinin catabolic process	IDA IDA: Inferred from direct assay	18039931	GOA
involved in calcitonin catabolic process	IDA IDA: Inferred from direct assay	18039931	GOA
involved in ear development	IMP IMP: Inferred from mutant phenotype	9915973	GOA
involved in embryonic digit morphogenesis	IMP IMP: Inferred from mutant phenotype	9915973	GOA
involved in endothelin maturation	IDA IDA: Inferred from direct assay	7805846	GOA
involved in heart development	IMP IMP: Inferred from mutant phenotype	9915973	GOA
involved in hormone catabolic process	IDA IDA: Inferred from direct assay	7864876	GOA
involved in peptide hormone processing	IDA IDA: Inferred from direct assay	7864876	GOA
involved in positive regulation of receptor recycling	IMP IMP: Inferred from mutant phenotype	18039931	GOA
involved in protein processing	IDA IDA: Inferred from direct assay	7805846	GOA
involved in substance P catabolic process	IDA IDA: Inferred from direct assay	18039931	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Weibel-Palade body	IDA IDA: Inferred from direct assay	9710124	GOA
located in early endosome	IDA IDA: Inferred from direct assay	18039931	GOA
located in endosome	IDA IDA: Inferred from direct assay	18039931	GOA
located in external side of plasma membrane	IDA IDA: Inferred from direct assay	9449382	GOA
located in membrane	IDA IDA: Inferred from direct assay	7805846	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	9710124	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	18039931	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ECE1 Protein Structure

Peptidase_M13_N

Peptidase_M13

0
200
400
600
770 a.a.

Protein Preferred Names

Protein Names

endothelin-converting enzyme 1

ECE-1

ECE1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ECE1	P42892	KRTAP10-8	Homo sapiens	P60410	Y2H Array	32296183
Intra	ECE1	P42892	KRTAP10-8	Homo sapiens	P60410	Y2H Prey Pooling	32296183
Intra	ECE1	P42892	KRTAP10-8	Homo sapiens	P60410	Validated Y2H	32296183
Intra	ECE1	P42892	KRTAP10-5	Homo sapiens	P60370	Y2H Array	25416956
Intra	ECE1	P42892	KRTAP1-3	Homo sapiens	Q8IUG1	Y2H Array	32296183
Intra	ECE1	P42892	KRTAP1-3	Homo sapiens	Q8IUG1	Y2H Prey Pooling	32296183
Intra	ECE1	P42892	CYSRT1	Homo sapiens	A8MQ03	Y2H Prey Pooling	32296183
Intra	ECE1	P42892	CYSRT1	Homo sapiens	A8MQ03	Y2H Array	32296183
Intra	ECE1	P42892	CLK2	Homo sapiens	P49760	Y2H Array	32296183
Intra	ECE1	P42892	CLK2	Homo sapiens	P49760	Validated Y2H	25416956
Intra	ECE1	P42892	CLK2	Homo sapiens	P49760	Y2H Prey Pooling	32296183
Intra	ECE1	P42892	CLK2	Homo sapiens	P49760	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ECE1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70035	ECE-1 Protein, Human (HEK293, His)	P42892 (Q90-W770)	≥95%

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P3749	Mca-(ala7,lys(dnp)9)-bradykinin		99.92%	Unkown
HY-N11772	Mutanocyclin	Inhibitor	99.94%	Unkown
HY-119545	PD159790	Inhibitor	/	Unkown
HY-RS04133	ECE1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-107762	CGS35066		/	Unkown
HY-18211	CGS 35601	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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