ECE1 - endothelin converting enzyme 1 Gene

Also Known as ECE

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1889

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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%, as determined by reducing SDS-PAGE.

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

Pre-clinical Phase

Bioactive Molecules (11)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B1237	Suloctidil	Inhibitor	99.96%	Unkown
HY-P3749	Mca-(ala7,lys(dnp)9)-bradykinin		99.93%	Unkown
HY-N11772	Mutanocyclin	Inhibitor	99.94%	Unkown
HY-107762	CGS35066	Inhibitor	/	Unkown
HY-119545	PD159790	Inhibitor	/	Unkown
HY-178732	AB-22	Inhibitor	/	Unkown
HY-184728	Antifungal agent-169	Inhibitor	/	Unkown
HY-RS04133	ECE1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-18211	CGS 35601	Inhibitor	/	Unkown
HY-RS18611	Ece1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25097	Ece1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	ECE1	NCBI