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

Gene ID: 1889, updated on 27-Dec-2018

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

Genomic context

See ECE1 in Genome Data Viewer
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_000001.11Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 4 gamma 3 Neighboring gene NFE2L2 motif-containing MPRA enhancer 38 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 27 Neighboring gene uncharacterized LOC100506801 Neighboring gene phosphodiesterase 4D interacting protein pseudogene Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 11 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 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 PubMed 
membrane HDA 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

Preferred Names
endothelin-converting enzyme 1
Names
ECE-1
NP_001106818.1
NP_001106819.1
NP_001106820.1
NP_001388.1
XP_006710461.1
XP_011539174.1
XP_011539175.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_013008.2 RefSeqGene

    Range
    5001..133295
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001113347.1NP_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:107756
    M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
    COG3590
    Location:94749
    PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
  2. NM_001113348.1NP_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:103752
    M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
    COG3590
    Location:90745
    PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
  3. NM_001113349.1NP_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:116765
    M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
    COG3590
    Location:103758
    PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
  4. NM_001397.3NP_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, ENST00000374893.10
    Conserved Domains (2) summary
    cd08662
    Location:119768
    M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
    COG3590
    Location:106761
    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

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    21217247..21345541 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540873.2XP_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:102751
    M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
    COG3590
    Location:89744
    PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
  2. XM_011540872.2XP_011539174.1  endothelin-converting enzyme 1 isoform X1

    Conserved Domains (2) summary
    cd08662
    Location:127776
    M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
    COG3590
    Location:114769
    PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
  3. XM_006710398.2XP_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:102751
    M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
    COG3590
    Location:89744
    PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
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