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Aliases for ECE1 Gene

Aliases for ECE1 Gene

  • Endothelin Converting Enzyme 1 2 3 5
  • EC 3.4.24.71 4 63
  • ECE-1 3 4
  • EC 3.4.24 63
  • 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 A-beta Pathways: Uptake and Degradation and Corticotropin-releasing hormone. GO annotations related to this gene include protein homodimerization activity and endopeptidase activity. An important paralog of this gene is MMEL1.

UniProtKB/Swiss-Prot for ECE1 Gene

  • Converts big endothelin-1 to endothelin-1.

Gene Wiki entry for ECE1 Gene

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

Genomics for ECE1 Gene

Regulatory Elements for ECE1 Gene

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

ENSRs around ECE1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ECE1 Gene

Chromosome:
1
Start:
21,217,247 bp from pter
End:
21,345,541 bp from pter
Size:
128,295 bases
Orientation:
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:
    P42892-ECE1_HUMAN
    Recommended name:
    Endothelin-converting enzyme 1
    Protein Accession:
    P42892
    Secondary Accessions:
    • A8K3P1
    • B4E291
    • Q14217
    • Q17RN5
    • Q2Z2K8
    • Q58GE7
    • Q5THM5
    • Q5THM7
    • Q5THM8
    • Q9UJQ6
    • Q9UPF4
    • Q9UPM4
    • Q9Y501

    Protein attributes for ECE1 Gene

    Size:
    770 amino acids
    Molecular mass:
    87164 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer; disulfide-linked.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for ECE1 Gene

Proteomics data for ECE1 Gene at MOPED

Post-translational modifications for ECE1 Gene

  • Ubiquitination at Lys 676
  • Glycosylation at Asn 166, Asn 187, Asn 210, Asn 270, Asn 316, Asn 362, Asn 383, Asn 539, Asn 632, and Asn 651
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for ECE1 Gene

Gene Families for ECE1 Gene

Graphical View of Domain Structure for InterPro Entry

P42892

UniProtKB/Swiss-Prot:

ECE1_HUMAN :
  • Belongs to the peptidase M13 family.
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

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

No data available for Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for ECE1 Gene COMPARTMENTS Subcellular localization image for ECE1 gene
Compartment Confidence
endosome 5
extracellular 5
lysosome 5
plasma membrane 5
vacuole 5
cytosol 2
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ECE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005769 early endosome IEA,IDA --
GO:0009897 external side of plasma membrane IDA 9449382
GO:0016020 membrane IDA 19946888
GO:0031410 cytoplasmic vesicle IEA --
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

Pathways by source for ECE1 Gene

1 R&D Systems pathway for ECE1 Gene
1 Qiagen pathway for ECE1 Gene

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:0006508 proteolysis IEA --
GO:0007507 heart development IMP 9915973
GO:0008217 regulation of blood pressure IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
5-(2-hydroxyethyl)nonane-1,9-diol Experimental Pharma Target 0
(2S)-2-(2-BENZYL-3-{[(1R)-1-{[(BENZYLOXY)CARBONYL]AMINO}-2-PHENYLETHYL](HYDROXY)PHOSPHORYL}PROPANAMIDO)-3-(1H-INDOL-3-YL)PROPANOIC ACID Pharma 0
DAGLUTRIL Pharma 0
KC-12615 Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
SM19712
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:

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: -
SP7:
SP8:

ExUns: 18 ^ 19a · 19b ^ 20a · 20b · 20c
SP1: -
SP2: -
SP3:
SP4: - -
SP5:
SP6:
SP7:
SP8:

Relevant External Links for ECE1 Gene

GeneLoc Exon Structure for
ECE1
ECgene alternative splicing isoforms for
ECE1

Expression for ECE1 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for ECE1 Gene



SOURCE GeneReport for Unigene cluster for ECE1 Gene Hs.195080

mRNA Expression by UniProt/SwissProt for ECE1 Gene

P42892-ECE1_HUMAN
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.
genes like me logo Genes that share expression patterns with ECE1: view

Protein tissue co-expression partners for ECE1 Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia ECE1 35
  • 89.71 (n)
  • 94.1 (a)
ECE1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ECE1 35
  • 91.26 (n)
  • 95.7 (a)
ECE1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ece1 35
  • 88.98 (n)
  • 95.88 (a)
Ece1 16
Ece1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ECE1 35
  • 98.73 (n)
  • 98.82 (a)
ECE1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ece1 35
  • 89.6 (n)
  • 95.35 (a)
oppossum
(Monodelphis domestica)
Mammalia ECE1 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ECE1 36
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves ECE1 35
  • 78.65 (n)
  • 82.96 (a)
ECE-1 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ECE1 36
  • 65 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia ece1-prov 35
zebrafish
(Danio rerio)
Actinopterygii ece1 35
  • 68 (n)
  • 67.64 (a)
ece1 36
  • 64 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:GH07188 37
  • 28 (a)
CG14523 37
  • 23 (a)
CG14527 37
  • 27 (a)
CG14528 37
  • 26 (a)
CG14529 37
  • 24 (a)
CG15485 37
  • 24 (a)
CG4721 37
  • 23 (a)
CG4725 37
  • 22 (a)
CG5527 37
  • 25 (a)
CG6265 37
  • 48 (a)
CG8358 37
  • 26 (a)
Nep1 37
  • 40 (a)
Nep2 37
  • 38 (a)
Nep3 37
  • 47 (a)
Nep4 37
  • 38 (a)
Nep3 35
  • 54.83 (n)
  • 46.19 (a)
Nep3 36
  • 44 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007796 35
  • 55.99 (n)
  • 48.12 (a)
worm
(Caenorhabditis elegans)
Secernentea C49D10.10 37
  • 24 (a)
F18A12.1 37
  • 23 (a)
F18A12.6 37
  • 25 (a)
F26G1.6 37
  • 31 (a)
F39E9.4 37
  • 29 (a)
F54F11.2 37
  • 28 (a)
K02F6.9 37
  • 22 (a)
T05A8.4 37
  • 36 (a)
T16A9.4 37
  • 31 (a)
T25B6.2 37
  • 26 (a)
nep-10 36
  • 20 (a)
ManyToMany
nep-12 36
  • 30 (a)
ManyToMany
nep-13 36
  • 21 (a)
ManyToMany
nep-18 36
  • 19 (a)
ManyToMany
nep-20 36
  • 16 (a)
ManyToMany
nep-21 36
  • 29 (a)
ManyToMany
nep-22 36
  • 21 (a)
ManyToMany
nep-23 36
  • 18 (a)
ManyToMany
nep-24 36
  • 18 (a)
ManyToMany
nep-3 36
  • 23 (a)
ManyToMany
nep-5 36
  • 17 (a)
ManyToMany
nep-6 36
  • 21 (a)
ManyToMany
nep-7 36
  • 18 (a)
ManyToMany
nep-8 36
  • 18 (a)
ManyToMany
nep-9 36
  • 17 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
Species with no ortholog for ECE1:
  • 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

ENSEMBL:
Gene Tree for ECE1 (if available)
TreeFam:
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
rs1076669 - 21,247,362(-) GCAGA(C/T)CTTGG reference, missense
rs3026906 Hirschsprung disease cardiac defects and autonomic dysfunction (HSCRCDAD) 21,220,008(-) ACTTC(C/T)GCTGC reference, missense
rs2229451 - 21,225,402(-) CATGG(A/T)GGAAG reference, missense
rs84657 -- 21,278,547(+) CCGCA(C/T)TGGAT intron-variant
rs84853 -- 21,315,029(-) CTACT(A/G)GGGAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv834380 CNV Gain 17160897
nsv871876 CNV Loss 21882294
nsv870456 CNV Gain 21882294
nsv871179 CNV Loss 21882294
esv1006358 CNV Deletion 20482838
esv2109865 CNV Deletion 18987734
nsv515620 CNV Loss 19592680
esv23912 CNV Loss 19812545

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

HapMap Linkage Disequilibrium report
ECE1
Human Gene Mutation Database (HGMD)
ECE1

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

Disorder Aliases PubMed IDs
hirschsprung disease, cardiac defects, and autonomic dysfunction
  • hirschsprung disease cardiac defects and autonomic dysfunction
hypertension, essential
  • hypertension, essential 3
ece1-related hirschsprung disease
autonomic dysfunction
  • autonomic disorder
chronic rhinitis
  • rhinitis - chronic
- elite association - COSMIC cancer census association via MalaCards
Search ECE1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ECE1_HUMAN
  • Hirschsprung disease cardiac defects and autonomic dysfunction (HSCRCDAD) [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)
ECE1
Human Genome Epidemiology (HuGE) Navigator
ECE1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ECE1
genes like me logo Genes that share disorders with ECE1: view

No data available for Genatlas for ECE1 Gene

Publications for ECE1 Gene

  1. Cloning and functional expression of human endothelin-converting enzyme cDNA. (PMID: 7864876) Shimada K. … Tanzawa K. (Biochem. Biophys. Res. Commun. 1995) 2 3 4 67
  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 23
  3. Role of protein kinase C in the expression of endothelin converting enzyme-1. (PMID: 18974277) Khamaisi M. … Raz I. (Endocrinology 2009) 3 23
  4. Structure of human endothelin-converting enzyme I complexed with phosphoramidon. (PMID: 18992253) Schulz H. … Oefner C. (J. Mol. Biol. 2009) 3 23
  5. Endothelin-converting enzyme 1 promotes re-sensitization of neurokinin 1 receptor-dependent neurogenic inflammation. (PMID: 19222484) Cattaruzza F. … Bunnett N.W. (Br. J. Pharmacol. 2009) 3 23

Products for ECE1 Gene

Sources for ECE1 Gene

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