ECE1 endothelin converting enzyme 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ECE1provided by HGNC
Official Full Name: endothelin converting enzyme 1provided by HGNC
Primary source: HGNC:HGNC:3146
See related: Ensembl:ENSG00000117298 MIM:600423
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ECE
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]
Expression: Ubiquitous expression in adrenal (RPKM 34.3), fat (RPKM 29.1) and 25 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 1p36.12

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	1	NC_000001.11 (21217247..21345541, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (21543740..21672034, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

ECE-1 and ECE-2 levels were significantly reduced in post-mortem brains from dementia with Lewy body patients.
Title: Endothelin-converting enzymes degrade α-synuclein and are reduced in dementia with Lewy bodies.
These results indicated that the ECE1 rs212528 and rs213045 polymorphisms had no major role to play in the genetic susceptibility to intracerebral haemorrhage.
Title: Association between ECE1 gene polymorphisms and risk of intracerebral haemorrhage.
results indicate that PKC-phosphorylated ECE-1 is a TIMAP-PP1c substrate and this phosphatase complex has an important role in endothelin-1 production of EC through the regulation of ECE-1 activity.
Title: TIMAP-protein phosphatase 1-complex controls endothelin-1 production via ECE-1 dephosphorylation.
CK2-increased ECE-1c protein stability is related to augmented migration and invasion of colon cancer cells, shedding light on a novel mechanism by which CK2 may promote malignant progression of this disease.
Title: Colon cancer cell invasion is promoted by protein kinase CK2 through increase of endothelin-converting enzyme-1c protein stability.
Thus, our findings suggest that ECE-1 may be a novel hypoxia-inducible factor-target gene.
Title: Endothelin-converting enzyme is a plausible target gene for hypoxia-inducible factor.
Structural analysis of membrane-bound hECE-1 dimer using molecular modeling techniques: insights into conformational changes and Abeta1-42 peptide binding.
Title: Structural analysis of membrane-bound hECE-1 dimer using molecular modeling techniques: insights into conformational changes and Aβ1-42 peptide binding.
Nitric oxide inhibits the production of soluble endothelin converting enzyme-1 by endothelial cells.
Title: Nitric oxide inhibits the production of soluble endothelin converting enzyme-1.
confirmed that endothelin-converting enzyme 1 (ECE1), EDN1, and EDNRB were involved in SP-induced pigmentation and found that EDN1 secretion was affected by ECE1 and EDN1 siRNAs, but not by EDNRB siRNA
Title: Substance P stimulates endothelin 1 secretion via endothelin-converting enzyme 1 and promotes melanogenesis in human melanocytes.
An arterial-specific enhancer of the human endothelin converting enzyme 1 (ECE1) gene is synergistically activated by Sox17, FoxC2, and Etv2
Title: An arterial-specific enhancer of the human endothelin converting enzyme 1 (ECE1) gene is synergistically activated by Sox17, FoxC2, and Etv2.
Compared with rs213045 G homozygote, rs213045 TG genotype and rs213045 TT/TG genotypes are in dominant model significantly increased the risk of ischemic stroke.
Title: Polymorphisms of ECE1 may contribute to susceptibility to ischemic stroke in Han Chinese of Northern China.

Submit: New GeneRIF Correction See all GeneRIFs (70)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Essential hypertension MedGen: C0085580 OMIM: 145500 GeneReviews: Not available	Compare labs
Hirschsprung disease, cardiac defects, and autonomic dysfunction MedGen: C3151237 OMIM: 613870 GeneReviews: Not available	Compare labs

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from BioSystems

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Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
Corticotropin-releasing hormone signaling pathway, organism-specific biosystem (from WikiPathways)
Corticotropin-releasing hormone signaling pathway, organism-specific biosystemCorticotropin-releasing hormone (CRH) is a neuropeptide secreted abundantly in the paraventricular nucleus of the hypothalamus, amygdala, cerebral cortex and cerebellum in the central nervous system ...
Endothelin Pathways, organism-specific biosystem (from WikiPathways)
Endothelin Pathways, organism-specific biosystemEndothelin-1 is a bicyclic 21 amino acid peptide, produced primarily in the endothelium. It is a potent stimulus of long-lasting and persistent vasoconstriction. It also has a role as a stimulus of i...
GPCR ligand binding, organism-specific biosystem (from REACTOME)
GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
Melatonin metabolism and effects, organism-specific biosystem (from WikiPathways)
Melatonin metabolism and effects, organism-specific biosystemMelatonin is an important regulator of circadian rythmus and influences also insulin secretion, immune function, retinal function and neuroprotection. The synthesis starts with the amino acid tryptop...
Peptide ligand-binding receptors, organism-specific biosystem (from REACTOME)
Peptide ligand-binding receptors, organism-specific biosystemThese receptors, a subset of the Class A/1 (Rhodopsin-like) family, all bind peptide ligands which include the chemokines, opioids and somatostatins.
Signal Transduction, organism-specific biosystem (from REACTOME)
Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
Signaling by GPCR, organism-specific biosystem (from REACTOME)
Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ECE1 (e-PCR)
- UniSTS:503301

RH11 (e-PCR)
- UniSTS:31498

D1S56 (e-PCR)
- UniSTS:153132

SHGC-30327 (e-PCR)
- UniSTS:572

D1S1373 (e-PCR)
- UniSTS:149569

D1S1376 (e-PCR)
- UniSTS:149572

D1S478 (e-PCR), detects polymorphism
- UniSTS:19530

D1S1387 (e-PCR)
- UniSTS:149583

SHGC-74323 (e-PCR)
- UniSTS:607

MARC_7137-7138:996687538:1 (e-PCR)
- UniSTS:269713

RH91799 (e-PCR)
- UniSTS:92835

Homology

Homologs of the ECE1 gene: The ECE1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, and mosquito.
Orthologs from Annotation Pipeline: 243 organisms have orthologs with human gene ECE1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
metalloendopeptidase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
metalloendopeptidase activity	TAS Traceable Author Statement more info
peptide hormone binding	IC Inferred by Curator more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
bradykinin catabolic process	IDA Inferred from Direct Assay more info	PubMed
calcitonin catabolic process	IDA Inferred from Direct Assay more info	PubMed
ear development	IMP Inferred from Mutant Phenotype more info	PubMed
embryonic digit morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
endothelin maturation	IDA Inferred from Direct Assay more info	PubMed
heart development	IMP Inferred from Mutant Phenotype more info	PubMed
hormone catabolic process	IDA Inferred from Direct Assay more info	PubMed
peptide hormone processing	IDA Inferred from Direct Assay more info	PubMed
pharyngeal system development	IEA Inferred from Electronic Annotation more info
positive regulation of receptor recycling	IMP Inferred from Mutant Phenotype more info	PubMed
protein processing	IDA Inferred from Direct Assay more info	PubMed
regulation of systemic arterial blood pressure by endothelin	IC Inferred by Curator more info	PubMed
regulation of vasoconstriction	IC Inferred by Curator more info	PubMed
substance P catabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
Weibel-Palade body	IDA Inferred from Direct Assay more info	PubMed
endosome	IDA Inferred from Direct Assay more info	PubMed
external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
extracellular exosome	HDA more info	PubMed
integral component of membrane	IDA Inferred from Direct Assay more info	PubMed
intrinsic component of endosome membrane	TAS Traceable Author Statement more info	PubMed
lysosomal membrane	HDA more info	PubMed
membrane	HDA more info	PubMed
perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
vesicle	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: endothelin-converting enzyme 1

Names: ECE-1

NP_001106818.1

EC 3.4.24.71

NP_001106819.1

EC 3.4.24.71

NP_001106820.1

EC 3.4.24.71

NP_001388.1

EC 3.4.24.71

XP_006710461.1

EC 3.4.24.71

XP_011539174.1

EC 3.4.24.71

XP_011539175.1

EC 3.4.24.71

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_013008.2 RefSeqGene

Range

5001..133295

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001113347.2 → NP_001106818.1 endothelin-converting enzyme 1 isoform 3

See identical proteins and their annotated locations for NP_001106818.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding region, compared to variant 1, resulting in a shorter protein (isoform 3 also known as isoform a) that has a distinct N-terminus, compared to isoform 1.

Source sequence(s)

AL031005, BC106022, BP234532, BU733112, D43698

Consensus CDS

CCDS44083.1

UniProtKB/Swiss-Prot

P42892

UniProtKB/TrEMBL

A0A024RAB0

Related

ENSP00000349581.4, ENST00000357071.8

Conserved Domains (2) summary

cd08662
Location:107 → 756

M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I

COG3590
Location:94 → 749

PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
NM_001113348.2 → NP_001106819.1 endothelin-converting enzyme 1 isoform 4

See identical proteins and their annotated locations for NP_001106819.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding region, compared to variant 1, resulting in a shorter protein (isoform 4 also known as isoform c) that has a distinct N-terminus, compared to isoform 1.

Source sequence(s)

AB031742, AL031005, AL031728, BC106022, BU733112, DB290492

Consensus CDS

CCDS44081.1

UniProtKB/Swiss-Prot

P42892

Related

ENSP00000405088.2, ENST00000415912.6

Conserved Domains (2) summary

cd08662
Location:103 → 752

M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I

COG3590
Location:90 → 745

PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
NM_001113349.2 → NP_001106820.1 endothelin-converting enzyme 1 isoform 2

See identical proteins and their annotated locations for NP_001106820.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding region, compared to variant 1, resulting in a shorter protein (isoform 2 also known as isoform d) that has a distinct N-terminus, compared to isoform 1.

Source sequence(s)

AJ130828, AL031005, BC106022, BP337331, BU733112, CN298523, CN298525, DA436879, DA445355, DA445401

Consensus CDS

CCDS44082.1

UniProtKB/Swiss-Prot

P42892

UniProtKB/TrEMBL

A0A024RAB2

Related

ENSP00000264205.6, ENST00000264205.10

Conserved Domains (2) summary

cd08662
Location:116 → 765

M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I

COG3590
Location:103 → 758

PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
NM_001397.3 → NP_001388.1 endothelin-converting enzyme 1 isoform 1

See identical proteins and their annotated locations for NP_001388.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest protein (isoform 1 also known as isoform b).

Source sequence(s)

AL031005, BC106022, BC117256, BU733112, Z35307

Consensus CDS

CCDS215.1

UniProtKB/Swiss-Prot

P42892

UniProtKB/TrEMBL

A0A024RAF7

Related

ENSP00000364028.6, ENST00000374893.11

Conserved Domains (2) summary

cd08662
Location:119 → 768

M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I

COG3590
Location:106 → 761

PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p12 Primary Assembly

Range

21217247..21345541 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011540873.2 → XP_011539175.1 endothelin-converting enzyme 1 isoform X2

See identical proteins and their annotated locations for XP_011539175.1

UniProtKB/Swiss-Prot

P42892

Conserved Domains (2) summary

cd08662
Location:102 → 751

M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I

COG3590
Location:89 → 744

PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
XM_011540872.2 → XP_011539174.1 endothelin-converting enzyme 1 isoform X1

Conserved Domains (2) summary

cd08662
Location:127 → 776

M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I

COG3590
Location:114 → 769

PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
XM_006710398.2 → XP_006710461.1 endothelin-converting enzyme 1 isoform X2

See identical proteins and their annotated locations for XP_006710461.1

UniProtKB/Swiss-Prot

P42892

Conserved Domains (2) summary

cd08662
Location:102 → 751

M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I

COG3590
Location:89 → 744

PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]