Homo sapiens Gene: ECE1
Summary
InnateDB Gene IDBG-93094.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ECE1
Gene Name endothelin converting enzyme 1
Synonyms ECE;
Species Homo sapiens
Ensembl Gene ENSG00000117298
Encoded Proteins
endothelin converting enzyme 1
endothelin converting enzyme 1
endothelin converting enzyme 1
endothelin converting enzyme 1
endothelin converting enzyme 1
endothelin converting enzyme 1
endothelin converting enzyme 1
endothelin converting enzyme 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:21217247-21345504
Strand Reverse strand
Band p36.12
Transcripts
ENST00000357071 ENSP00000349581
ENST00000264205 ENSP00000264205
ENST00000374893 ENSP00000364028
ENST00000415912 ENSP00000405088
ENST00000436918 ENSP00000388439
ENST00000470394
ENST00000481130 ENSP00000436633
ENST00000473505 ENSP00000431856
ENST00000463334
ENST00000531334
ENST00000526194
ENST00000528294
ENST00000527991 ENSP00000432860
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
Experimentally validated
Total 17 [view]
Protein-Protein 17 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004175 endopeptidase activity
GO:0004222 metalloendopeptidase activity
GO:0017046 peptide hormone binding
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding
Biological Process
GO:0001921 positive regulation of receptor recycling
GO:0003100 regulation of systemic arterial blood pressure by endothelin
GO:0006508 proteolysis
GO:0007507 heart development
GO:0010814 substance P catabolic process
GO:0010815 bradykinin catabolic process
GO:0010816 calcitonin catabolic process
GO:0016485 protein processing
GO:0016486 peptide hormone processing
GO:0019229 regulation of vasoconstriction
GO:0034959 endothelin maturation
GO:0042447 hormone catabolic process
GO:0042733 embryonic digit morphogenesis
GO:0043583 ear development
GO:0060037 pharyngeal system development
Cellular Component
GO:0005765 lysosomal membrane
GO:0005768 endosome
GO:0005769 early endosome
GO:0005886 plasma membrane
GO:0009897 external side of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031302 intrinsic to endosome membrane
GO:0031982 vesicle
GO:0033093 Weibel-Palade body
GO:0048471 perinuclear region of cytoplasm
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.195080
RefSeq NM_001113347 NM_001113348 NM_001113349 NM_001397 XM_006710398
HUGO
OMIM
CCDS CCDS215 CCDS44081 CCDS44082 CCDS44083
HPRD 02690
IMGT
EMBL
GenPept
RNA Seq Atlas