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; AllianceGenome:HGNC:3146
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
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Genomic context

Location:: 1p36.12

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (21217250..21345504, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (21044316..21172559, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (21543743..21671997, 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 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 Functions

What's a GeneRIF?

Cisplatin-resistance and aggressiveness are enhanced by a highly stable endothelin-converting enzyme-1c in lung cancer cells.
Title: Cisplatin-resistance and aggressiveness are enhanced by a highly stable endothelin-converting enzyme-1c in lung cancer cells.
Mutation analysis of the ECE1 gene in late-onset Alzheimer's disease.
Title: Mutation analysis of the ECE1 gene in late-onset Alzheimer's disease.
CircECE1 promotes osteosarcoma progression through regulating RAB3D by sponging miR-588.
Title: CircECE1 promotes osteosarcoma progression through regulating RAB3D by sponging miR-588.
CircNDC80 promotes glioblastoma multiforme tumorigenesis via the miR-139-5p/ECE1 pathway.
Title: CircNDC80 promotes glioblastoma multiforme tumorigenesis via the miR-139-5p/ECE1 pathway.
Association of Endothelin-Converting Enzyme and Endothelin-1 Gene Polymorphisms with Essential Hypertension in Malay Ethnics.
Title: Association of Endothelin-Converting Enzyme and Endothelin-1 Gene Polymorphisms with Essential Hypertension in Malay Ethnics.
Effects of ECE-1b rs213045 and rs2038089 polymorphisms on the development of contrast-induced acute kidney injury in patients with acute coronary syndrome.
Title: Effects of ECE-1b rs213045 and rs2038089 polymorphisms on the development of contrast-induced acute kidney injury in patients with acute coronary syndrome.
Association of ECE1 gene polymorphisms and essential hypertension risk in the Northern Han Chinese: A case-control study.
Title: Association of ECE1 gene polymorphisms and essential hypertension risk in the Northern Han Chinese: A case-control study.
Endothelin-converting enzyme-1c promotes stem cell traits and aggressiveness in colorectal cancer cells.
Title: Endothelin-converting enzyme-1c promotes stem cell traits and aggressiveness in colorectal cancer cells.
The role of Candida albicans candidalysin ECE1 gene in oral carcinogenesis.
Title: The role of Candida albicans candidalysin ECE1 gene in oral carcinogenesis.
Placental endothelin-converting enzyme-1 is decreased in preeclampsia.
Title: Placental endothelin-converting enzyme-1 is decreased in preeclampsia.

Submit: New GeneRIF Correction See all GeneRIFs (83)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Essential hypertension, genetic MedGen: CN305331 OMIM: 145500 GeneReviews: Not available	not available
Hirschsprung disease, cardiac defects, and autonomic dysfunction MedGen: C3151237 OMIM: 613870 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS 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)

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

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info
involved_in axonogenesis involved in innervation	IEA Inferred from Electronic Annotation more info
involved_in bradykinin catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in calcitonin catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in ear development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic digit morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic heart tube development	IEA Inferred from Electronic Annotation more info
involved_in endothelin maturation	IDA Inferred from Direct Assay more info	PubMed
involved_in heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hormone catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in peptide hormone processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in peptide hormone processing	IDA Inferred from Direct Assay more info	PubMed
involved_in pharyngeal system development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of receptor recycling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein processing	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of systemic arterial blood pressure by endothelin	IC Inferred by Curator more info	PubMed
involved_in regulation of vasoconstriction	IC Inferred by Curator more info	PubMed
involved_in semaphorin-plexin signaling pathway involved in axon guidance	IEA Inferred from Electronic Annotation more info
involved_in substance P catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in sympathetic neuron axon guidance	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Weibel-Palade body	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in endosome membrane	TAS Traceable Author Statement more info	PubMed
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in lysosomal membrane	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in 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

XP_047304052.1

EC 3.4.24.71

XP_054190788.1

EC 3.4.24.71

XP_054190789.1

EC 3.4.24.71

XP_054190790.1

EC 3.4.24.71

XP_054190791.1

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

60079..133292

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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/TrEMBL

B4DKB2

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/TrEMBL

B4DKB2

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/TrEMBL

B4DKB2

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

A8K3P1, B4E291, P42892, Q14217, Q17RN5, Q2Z2K8, Q58GE7, Q5THM5, Q5THM7, Q5THM8, Q9UJQ6, Q9UPF4, Q9UPM4, Q9Y501

UniProtKB/TrEMBL

B4DKB2

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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

21217250..21345504 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011540873.3 → XP_011539175.1 endothelin-converting enzyme 1 isoform X2

See identical proteins and their annotated locations for XP_011539175.1

UniProtKB/TrEMBL

B4DKB2

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_011540872.3 → XP_011539174.1 endothelin-converting enzyme 1 isoform X1

UniProtKB/TrEMBL

B4DKB2

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_047448096.1 → XP_047304052.1 endothelin-converting enzyme 1 isoform X2
XM_006710398.3 → XP_006710461.1 endothelin-converting enzyme 1 isoform X2

See identical proteins and their annotated locations for XP_006710461.1

UniProtKB/TrEMBL

B4DKB2

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]