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Aliases for ECE1 Gene

Aliases for ECE1 Gene

  • Endothelin Converting Enzyme 1 2 3 5
  • EC 4 61
  • ECE-1 3 4
  • Endothelin-Converting Enzyme 1 3
  • EC 3.4.24 61
  • ECE 3

External Ids for ECE1 Gene

Previous HGNC Symbols for ECE1 Gene

  • ECE

Previous GeneCards Identifiers for ECE1 Gene

  • GC01M021116
  • GC01M020581
  • GC01M020692
  • GC01M021015
  • GC01M021290
  • GC01M021417
  • GC01M021543
  • GC01M019789

Summaries for ECE1 Gene

Entrez Gene Summary for ECE1 Gene

  • 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]

GeneCards Summary for ECE1 Gene

ECE1 (Endothelin Converting Enzyme 1) is a Protein Coding gene. Diseases associated with ECE1 include Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction and Hypertension, Essential. Among its related pathways are Peptide ligand-binding receptors and Endothelin Pathways. GO annotations related to this gene include protein homodimerization activity and endopeptidase activity. An important paralog of this gene is ECE2.

UniProtKB/Swiss-Prot for ECE1 Gene

  • Converts big endothelin-1 to endothelin-1.

Gene Wiki entry for ECE1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ECE1 Gene

Genomics for ECE1 Gene

Regulatory Elements for ECE1 Gene

Enhancers for ECE1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G021331 2.2 FANTOM5 Ensembl ENCODE dbSUPER 34.2 +6.4 6355 15.2 CREB3L1 MLX AGO1 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF416 ECE1 NBPF2P ENSG00000236936 CDC42-IT1 NBPF3 ALPL EIF4G3 LOC100506801
GH01G021312 2.1 FANTOM5 Ensembl ENCODE dbSUPER 32.2 +23.7 23718 18.7 MLX CREB3L1 FEZF1 DMAP1 YY1 ZNF143 ZNF263 TBX21 MEF2D ZNF610 ECE1 ENSG00000236936 EIF4G3 NBPF3 NBPF2P ALPL LOC100506801
GH01G021288 1.7 FANTOM5 ENCODE dbSUPER 17.4 +52.6 52605 9.5 HDGF PKNOX1 FOXA2 ARNT WRNIP1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ECE1 ENSG00000236936 CDC42-IT1 ENSG00000271428 RAP1GAP EIF4G3 NBPF2P ALPL LOC100506801 GC01P021285
GH01G021283 1.4 FANTOM5 Ensembl ENCODE dbSUPER 16.8 +60.9 60872 1.9 ZNF121 GATA3 FEZF1 ZBTB33 PRDM1 EZH2 ECE1 EIF4G3 ALPL GC01P021285 GC01M021276
GH01G021259 2 FANTOM5 Ensembl ENCODE dbSUPER 9.4 +83.6 83616 4.8 PKNOX1 ARNT ARID4B ZNF766 FOS KLF13 MCM3 NFYC MXD4 REST EIF4G3 ECE1 NBPF2P ALPL ENSG00000236936 PIR51422
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ECE1 on UCSC Golden Path with GeneCards custom track

Promoters for ECE1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for ECE1 Gene

21,217,247 bp from pter
21,345,541 bp from pter
128,295 bases
Minus strand

Genomic View for ECE1 Gene

Genes around ECE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ECE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ECE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ECE1 Gene

Proteins for ECE1 Gene

  • Protein details for ECE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Endothelin-converting enzyme 1
    Protein Accession:
    Secondary Accessions:
    • A8K3P1
    • B4E291
    • Q14217
    • Q17RN5
    • Q2Z2K8
    • Q58GE7
    • Q5THM5
    • Q5THM7
    • Q5THM8
    • Q9UJQ6
    • Q9UPF4
    • Q9UPM4
    • Q9Y501

    Protein attributes for ECE1 Gene

    770 amino acids
    Molecular mass:
    87164 Da
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer; disulfide-linked.
    • Sequence=AAX35820.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAA84548.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ECE1 Gene

    Alternative splice isoforms for ECE1 Gene


neXtProt entry for ECE1 Gene

Selected DME Specific Peptides for ECE1 Gene


Post-translational modifications for ECE1 Gene

  • Ubiquitination at Lys676
  • Glycosylation at isoforms=2, 3, 4166, isoforms=2, 3, 4187, isoforms=2, 3, 4210, isoforms=2, 3, 4270, Asn316, isoforms=2, 3, 4362, isoforms=2, 3, 4383, Asn539, isoforms=2, 3, 4632, and Asn651
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for ECE1 Gene

Gene Families for ECE1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase M13 family.
  • Belongs to the peptidase M13 family.
genes like me logo Genes that share domains with ECE1: view

Function for ECE1 Gene

Molecular function for ECE1 Gene

GENATLAS Biochemistry:
endothelin converting enzyme 1,converting the precursor big ET-1 to mature ET-1 (EDN1),metallopeptidase,neutral endopeptidase family,homolog to MME,including four isoforms ECE1A,ECE1B,ECE1C,ECE1D,diverging in their N terminal sequence and displaying different patterns of subcellular localization
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of the 21-Trp- -Val-22 bond in big endothelin to form endothelin 1.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by phosphoramidon.
UniProtKB/Swiss-Prot Function:
Converts big endothelin-1 to endothelin-1.

Enzyme Numbers (IUBMB) for ECE1 Gene

Gene Ontology (GO) - Molecular Function for ECE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity IDA 7805846
GO:0004222 metalloendopeptidase activity IEA,TAS --
GO:0005515 protein binding IPI 25416956
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
genes like me logo Genes that share ontologies with ECE1: view
genes like me logo Genes that share phenotypes with ECE1: view

Human Phenotype Ontology for ECE1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ECE1 Gene

MGI Knock Outs for ECE1:

Animal Model Products

Inhibitory RNA Products

No data available for Transcription Factor Targets and HOMER Transcription for ECE1 Gene

Localization for ECE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ECE1 Gene

Cell membrane; Single-pass type II membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ECE1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
lysosome 5
endosome 5
nucleus 2
cytosol 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ECE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IDA 17897319
GO:0005768 endosome IDA 18039931
GO:0005886 plasma membrane TAS --
GO:0009897 external side of plasma membrane IDA 9449382
GO:0016020 membrane IEA,IDA 19946888
genes like me logo Genes that share ontologies with ECE1: view

Pathways & Interactions for ECE1 Gene

genes like me logo Genes that share pathways with ECE1: view

Gene Ontology (GO) - Biological Process for ECE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001921 positive regulation of receptor recycling IMP 18039931
GO:0003100 regulation of systemic arterial blood pressure by endothelin IC 7805846
GO:0006508 proteolysis IEA --
GO:0007507 heart development IMP 9915973
GO:0010814 substance P catabolic process IDA 18039931
genes like me logo Genes that share ontologies with ECE1: view

No data available for SIGNOR curated interactions for ECE1 Gene

Drugs & Compounds for ECE1 Gene

(17) Drugs for ECE1 Gene - From: DrugBank, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
5-(2-hydroxyethyl)nonane-1,9-diol Experimental Pharma Target 0
Daglutril Investigational Pharma 0
KC-12615 Pharma 0

(12) Additional Compounds for ECE1 Gene - From: IUPHAR and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Inhibition, Inhibitor
genes like me logo Genes that share compounds with ECE1: view

Transcripts for ECE1 Gene

Unigene Clusters for ECE1 Gene

Endothelin converting enzyme 1:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ECE1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b · 15c · 15d · 15e ^ 16 ^ 17 ^
SP1: - - - - - -
SP2: - - -
SP3: - -
SP4: -
SP5: -
SP6: -

ExUns: 18 ^ 19a · 19b ^ 20a · 20b · 20c
SP1: -
SP2: -
SP4: - -

Relevant External Links for ECE1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ECE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ECE1 Gene

Protein differential expression in normal tissues from HIPED for ECE1 Gene

This gene is overexpressed in Testis (18.9) and Peripheral blood mononuclear cells (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ECE1 Gene

Protein tissue co-expression partners for ECE1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ECE1 Gene:


SOURCE GeneReport for Unigene cluster for ECE1 Gene:


mRNA Expression by UniProt/SwissProt for ECE1 Gene:

Tissue specificity: All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils, fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung, heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and isoform C in kidney.

Evidence on tissue expression from TISSUES for ECE1 Gene

  • Nervous system(4.8)
  • Heart(4.6)
  • Blood(4.5)
  • Liver(4.4)
  • Lung(4.1)
  • Muscle(3)
  • Kidney(2.8)
  • Intestine(2.7)
  • Pancreas(2.2)
  • Adrenal gland(2.1)
  • Eye(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ECE1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeleton
Head and neck:
  • brain
  • ear
  • face
  • head
  • nose
  • outer ear
  • skull
  • esophagus
  • heart
  • heart valve
  • lung
  • duodenum
  • intestine
  • large intestine
  • small intestine
  • stomach
  • penis
  • rectum
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with ECE1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ECE1 Gene

Orthologs for ECE1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ECE1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ECE1 34 35
  • 98.73 (n)
(Canis familiaris)
Mammalia ECE1 34 35
  • 91.26 (n)
(Bos Taurus)
Mammalia ECE1 34 35
  • 89.71 (n)
(Rattus norvegicus)
Mammalia Ece1 34
  • 89.6 (n)
(Mus musculus)
Mammalia Ece1 34 16 35
  • 88.98 (n)
(Monodelphis domestica)
Mammalia ECE1 35
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia ECE1 35
  • 65 (a)
(Gallus gallus)
Aves ECE-1 35
  • 83 (a)
ECE1 34
  • 78.65 (n)
(Anolis carolinensis)
Reptilia ECE1 35
  • 65 (a)
African clawed frog
(Xenopus laevis)
Amphibia ece1-prov 34
(Danio rerio)
Actinopterygii ece1 34 35
  • 68 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007796 34
  • 55.99 (n)
fruit fly
(Drosophila melanogaster)
Insecta Nep3 36 34 35
  • 54.83 (n)
CG6265 36
  • 48 (a)
Nep1 36
  • 40 (a)
Nep2 36
  • 38 (a)
Nep4 36
  • 38 (a)
BcDNA:GH07188 36
  • 28 (a)
CG14527 36
  • 27 (a)
CG14528 36
  • 26 (a)
CG8358 36
  • 26 (a)
CG5527 36
  • 25 (a)
CG14529 36
  • 24 (a)
CG15485 36
  • 24 (a)
CG14523 36
  • 23 (a)
CG4721 36
  • 23 (a)
CG4725 36
  • 22 (a)
(Caenorhabditis elegans)
Secernentea T05A8.4 36
  • 36 (a)
F26G1.6 36
  • 31 (a)
T16A9.4 36
  • 31 (a)
nep-12 35
  • 30 (a)
F39E9.4 36
  • 29 (a)
nep-21 35
  • 29 (a)
F54F11.2 36
  • 28 (a)
T25B6.2 36
  • 26 (a)
F18A12.6 36
  • 25 (a)
C49D10.10 36
  • 24 (a)
F18A12.1 36
  • 23 (a)
nep-3 35
  • 23 (a)
K02F6.9 36
  • 22 (a)
nep-13 35
  • 21 (a)
nep-22 35
  • 21 (a)
nep-6 35
  • 21 (a)
nep-10 35
  • 20 (a)
nep-18 35
  • 19 (a)
nep-23 35
  • 18 (a)
nep-24 35
  • 18 (a)
nep-7 35
  • 18 (a)
nep-8 35
  • 18 (a)
nep-5 35
  • 17 (a)
nep-9 35
  • 17 (a)
nep-20 35
  • 16 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 41 (a)
Species where no ortholog for ECE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ECE1 Gene

Gene Tree for ECE1 (if available)
Gene Tree for ECE1 (if available)

Paralogs for ECE1 Gene

Paralogs for ECE1 Gene

(6) SIMAP similar genes for ECE1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ECE1: view

Variants for ECE1 Gene

Sequence variations from dbSNP and Humsavar for ECE1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs3026906 Pathogenic, Hirschsprung disease, cardiac defects, and autonomic dysfunction (HCAD) [MIM:613870] 21,220,008(-) ACTTC(C/T)GCTGC reference, missense
rs143819896 Likely benign 21,235,870(+) GTCCA(A/G)CTCCT reference, synonymous-codon
rs1076669 Benign 21,247,362(-) GCAGA(C/T)CTTGG reference, missense
rs12562197 Benign 21,245,108(+) GCTGC(A/G)GGGAG intron-variant
rs141146885 Benign 21,238,138(+) CTATG(C/T)TCTTG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ECE1 Gene

Variant ID Type Subtype PubMed ID
esv1006358 CNV deletion 20482838
esv2109865 CNV deletion 18987734
esv23912 CNV loss 19812545
esv3585442 CNV loss 21293372
nsv515620 CNV loss 19592680
nsv545735 CNV loss 21841781
nsv834380 CNV gain 17160897

Variation tolerance for ECE1 Gene

Residual Variation Intolerance Score: 37.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.74; 57.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ECE1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ECE1 Gene

Disorders for ECE1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for ECE1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ECE1 in MalaCards View complete list of genes associated with diseases


  • Hirschsprung disease, cardiac defects, and autonomic dysfunction (HCAD) [MIM:613870]: A disorder characterized by skip-lesions Hirschsprung disease, craniofacial abnormalities and other dysmorphic features, cardiac defects including ductus arteriosus, small subaortic ventricular septal defect, small atrial septal defect, and autonomic dysfunction. {ECO:0000269 PubMed:9915973}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ECE1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ECE1: view

No data available for Genatlas for ECE1 Gene

Publications for ECE1 Gene

  1. Structure of human endothelin-converting enzyme I complexed with phosphoramidon. (PMID: 18992253) Schulz H. … Oefner C. (J. Mol. Biol. 2009) 3 4 22 64
  2. Endothelin-converting enzyme 1 degrades neuropeptides in endosomes to control receptor recycling. (PMID: 17592116) Roosterman D. … Steinhoff M. (Proc. Natl. Acad. Sci. U.S.A. 2007) 2 3 22 64
  3. Risk of coronary artery disease as influenced by variants of the human endothelin and endothelin-converting enzyme genes. (PMID: 17264805) BA1hler K. … Cascorbi I. (Pharmacogenet. Genomics 2007) 3 22 46 64
  4. Human endothelin-converting enzyme (ECE-1): three isoforms with distinct subcellular localizations. (PMID: 9396733) Schweizer A. … Loeffler B.-M. (Biochem. J. 1997) 3 4 22 64
  5. Cloning and functional expression of human endothelin-converting enzyme cDNA. (PMID: 7864876) Shimada K. … Tanzawa K. (Biochem. Biophys. Res. Commun. 1995) 2 3 4 64

Products for ECE1 Gene

  • Addgene plasmids for ECE1

Sources for ECE1 Gene

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