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FLASH GENE
Symbol ECE1 contributors: shn/npt - updated : 01-03-2010
HGNC name endothelin converting enzyme 1
HGNC id 3146
Corresponding disease
HSCR5 Hirschsprung disease 5
Location 1p36.12      Physical location : 21.543.739 - 21.672.034
Synonym name Hirschsprung disease, cardiac defects, and autonomic dysfunction, included
Synonym symbol(s) ECE, ECE-1
EC.number 3.4.24.71
DNA
TYPE functioning gene
STRUCTURE 128.29 kb     19 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map pter - D1S2732 - D1S3720 - ECE1 - D1S334 - D1S2828 - cen
Physical map
FLJ20225 1p36.13 hypothetical protein FLJ20225 LOC254897 1p36.13 similar to OSJNBa0043A12.32 PLA2G2E 1p36.13 similar to OSJNBa0043A12.32 PLA2G2A 1p36.1-p35 phospholipase A2, group IIA (platelets, synovial fluid) PLA2G5 1p36-p34 phospholipase A2, group V PLA2G2D 1p36.12 phospholipase A2, group IID PLA2G2F 1p35 phospholipase A2, group IID LOC391013 1 similar to Group IIC secretory phospholipase A2 precursor (Phosphatidylcholine 2-acylhydrolase GIIC) (GIIC sPLA2) (PLA2-8) (14 kDa phospholipase A2) FLJ25429 FLJ32784 1p36.13 hypothetical protein FLJ32784 LOC388601 1 LOC388601 CaMKIINalpha 1p36.13 calcium/calmodulin-dependent protein kinase II FLJ12875 1p36.13 hypothetical protein FLJ12875 LOC163933 1p36.12 similar to cDNA sequence BC022623 CDA 1p36.2-p35 cytidine deaminase PINK1 1p36 PTEN induced putative kinase 1 DDOST 1p36.1 dolichyl-diphosphooligosaccharide-protein glycosyltransferase KIF17 1p36.13 kinesin family member 17 LOC388602 1 LOC388602 LOC388603 1 LOC388603 HP1-BP74 1p36.12 HP1-BP74 EIF4G3 11p15 eukaryotic translation initiation factor 4 gamma, 3 LOC388604 1 LOC388604 ECE1 1p36.1 endothelin converting enzyme 1 LOC391014 1 similar to protein phosphatase 1, regulatory (inhibitor) subunit 11 isoform 1; hemochromatosis candidate gene V; t-complex-associated-testis-expressed 5; inhibitor-3 LOC343381 1p36.12 similar to KIAA0454 protein LOC391015 1 similar to hypothetical protein AE2 LOC388605 1 similar to heparan-sulfate 6-sulfotransferase LOC391016 1 similar to KIAA0445 protein AE2 1p36.12 hypothetical protein AE2 ALPL 1p36.1 alkaline phosphatase, liver/bone/kidney RAP1GA1 1p36.1 RAP1, GTPase activating protein 1 USP31 1p36.12 ubiquitin specific protease 31 HSPG2 1p36.11-p35 heparan sulfate proteoglycan 2 (perlecan) LOC391017 1 hypothetical gene supported by X89401; NM_000982 ELA3B 1p36.12 elastase 3B, pancreatic ELA3A 1p36.12 elastase 3A, pancreatic (protease E) HSPC157 1p36.12 HSPC157 protein CDC42 1p36.1 cell division cycle 42 (GTP binding protein, 25kDa) WNT4 1p36.23-p35.1 wingless-type MMTV integration site family, member 4 LOC343384 1p36.12 similar to peptidyl-Pro cis trans isomerase KIAA0478 1pter-q31.3 similar to peptidyl-Pro cis trans isomerase EPHA8 1p36.12 EphA8 C1QA 1p36.3-p34.1 complement component 1, q subcomponent, alpha polypeptide C1QG 1p36.3-p34.1 complement component 1, q subcomponent, gamma polypeptide C1QB 1p36.11 complement component 1, q subcomponent, beta polypeptide
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
19 splicing 5114 - 770 . abundantly in endothelial cells . perinuclear region and in Weibel-Palade bodies of the human umbilical vein endothelial cells . endothelium and smooth muscle, retinal arterioles Xu et al, 1994; Russel et al, 1998? Hein 2009
17 splicing 5259 - 758 . abundantly in endothelial cells . perinuclear region and in Weibel-Palade bodies of the human umbilical vein endothelial cells . endothelium and smooth muscle, retinal arterioles Xu et al, 1994; Russell et al, 1998, Hein 2009
18 splicing 5105 - 767 . abundantly in endothelial cells . . perinuclear region and in Weibel-Palade bodies of the human umbilical vein endothelial cells . endothelium and smooth muscle, retinal arterioles Xu et al, 1994; Russell et al, 1998; Hein 2009
19 splicing 5154 - 754 . abundantly in endothelial cells . perinuclear region and in Weibel-Palade bodies of the human umbilical vein endothelial cells . endothelium and smooth muscle, retinal arterioles Xu 1994; Russell 1998; Hein 2009
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Digestiveintestinelarge intestinecolon highly
 intestinesmall intestine  moderately
 liver   moderately
Endocrinepancreas   highly
Lymphoid/Immunespleen   moderately
 thymus   lowly
Reproductivefemale systemovary  highly
 female systemplacenta  moderately
 male systemtestis  moderately
 male systemprostate  moderately
Respiratorylung   moderately
Urinarykidney   lowly
Visualeyeretina  lowly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal lowly
cells
SystemCellPubmedSpeciesStageRna symbol
Cardiovascularendothelial cell
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text olfactory mucosa and FNC-B4 cells
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two peptidase domains
  • a conserved pentapeptide zinc binding motif near the C terminus
  • a HEXXH (HELTH) motif
  • secondary structure structurally related to neutral endopeptidase 24.11 and Kell blood group protein
    conjugated PhosphoP
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to ECE1, Pan troglodytes
    ortholog to Ece1, Rattus norvegicus
    ortholog to Ece1, Mus musculus
    Homologene
    FAMILY
  • neutral endopeptidase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    text type II integral membrane glycoprotein
    basic FUNCTION
  • involved in proteolytic processing of endothelin precursors to biologically active peptides
  • involved in the development of distinct subsets of neural crest cell lineages (Yanagisawa et al, 1998)
  • generates endothelin-1 (ET-1) by specific proteolytic processing of a precursor peptide, big ET-1 (Fahnoe et al, 2000)
  • a physiological role in limiting Abeta accumulation in the brain (Eckman et al, 2003)
  • in early endosomes degrades neuropeptides, regulates post-endocytic sorting of receptors and degrades Calcitonin gene-related peptide (Padilla et al, 2007)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text Hydrolysis of the 21-Trp-
    -Val-22 bond in big endothelin to form endothelin 1
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • endothelin-1 (ET-1)
  • cell & other
  • shear stress attenuates endothelin and endothelin-converting enzyme expression through oxidative stress
  • REGULATION
    inhibited by inhibited by treatment with estrogen, genistein, or daidzein
    phosphoramidon
    Other localization of isoforms modulated by the ECE1-b targetting signal
    ASSOCIATED DISORDERS
    corresponding disease(s) HSCR5
    Susceptibility
    Variant & Polymorphism SNP
  • polymorphisms in the 5-prime flanking region of the ECE1 gene, -338C-A and -839T-G, are associated with ambulatory blood pressure values (Funke-Kaiser et al, 2003)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • ECE-1-/- term mouse embryos exhibited craniofacial and cardiac abnormalities virtually identical to the defects seen in ET-1 and endothelin A receptor (ETA)-deficient embryos, epidermal melanocytes and enteric neurons of the distal gut are absent (Yanagisawa et al, 1998)
  • brains of mice deficient for ECE-1 display significant increases in the levels of both Abeta40 and Abeta42 (Eckman et al, 2003)