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ECE1 (NM_001113349) - endothelin converting enzyme 1

Endothelin-Converting Enzyme 1 Isoform 2

PTM Interaction Network Visualisation

Protein summary

This is an alternative isoform of ECE1 protein. View all 4 isoforms
ECE1: endothelin-converting enzyme 1 isoform 2
Description:

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].

Strand
-
Chromosome
1
Protein
767 residues
All mutations
115
PTM sites
26
CDS
21,546,447 - 21,616,691
Transcription
21,543,739 - 21,616,766
10.56% of sequence is predicted to be disordered

Usage summary

Network

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PTM site

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Kinases group

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Kinase, PTM site or protein

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 1889
UniProt
Ensembl