NP_001106820.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
endothelin-converting enzyme 1 isoform 2
NCBI Official Synonym Full Names
endothelin converting enzyme 1
NCBI Official Synonym Symbols
NCBI Protein Information
endothelin-converting enzyme 1; ECE-1
UniProt Protein Name
Endothelin-converting enzyme 1
UniProt Synonym Gene Names
UniProt Entry Name
ECE1_HUMAN
NCBI Summary for ECE1
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]
UniProt Comments for ECE1
ECE1: Converts big endothelin-1 to endothelin-1. Defects in ECE1 are a cause of Hirschsprung disease cardiac defects and autonomic dysfunction (HSCRCDAD). It is a form of Hirschsprung disease with skip-lesions defects, craniofacial abnormalities and other dysmorphic features, and autonomic dysfunction. Belongs to the peptidase M13 family. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: Protease; EC 3.4.24.71; Vesicle; Membrane protein, integral; Cell surface
Chromosomal Location of Human Ortholog: 1p36.1
Cellular Component: membrane; perinuclear region of cytoplasm; lysosomal membrane; early endosome; integral to membrane; plasma membrane; endosome; vesicle; external side of plasma membrane
Molecular Function: protein homodimerization activity; metal ion binding; peptide hormone binding; metalloendopeptidase activity; endopeptidase activity
Biological Process: pharyngeal system development; regulation of systemic arterial blood pressure by endothelin; regulation of vasoconstriction; heart development; peptide hormone processing; ear development; protein processing; hormone catabolic process; embryonic digit morphogenesis; proteolysis; positive regulation of receptor recycling
Disease: Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction; Hypertension, Essential
Research Articles on ECE1
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Pathways associated with ECE1 active protein
Diseases associated with ECE1 active protein
Organs/Tissues associated with ECE1 active protein
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