About   Help   FAQ
Ece1
Gene Detail
Symbol

Name
ID
Ece1
endothelin converting enzyme 1
MGI:1101357
Feature Type
protein coding gene
Genetic Map
Chromosome 4
70.02 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr4:137862237-137965229 bp, + strand
From VEGA annotation of GRCm38

  102993 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:1068  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

HCOP human homology predictions: ECE1
Protein SuperFamily: neprilysin-like metallopeptidase
Gene Tree: Ece1

Human
homologs
ECE1, endothelin converting enzyme 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 1889
neXtProt AC: NX_P42892

Human Synonyms: ECE

Human Chr (Location): 1p36.1; chr1:21217247-21345541 (-)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human ECE1

Mutations,
alleles, and
phenotypes
All mutations/alleles(106) : Gene trapped(102) Targeted(4)
Genomic Mutations involving Ece1 (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygotes for targeted null mutations show cardiac and craniofacial abnormalities and embryonic mortality.
 
Human Diseases Modeled in Mice Using Ece1 (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(2)
Interactions
Ece1 interacts with 226 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (52 annotations)
Process apoptotic process, bradykinin catabolic process, ...
Component cell surface, cytoplasmic vesicle, ...
Function endopeptidase activity, hydrolase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (12 records)
Data Summary: Results (114)    Tissues (45)    Images (50)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 96
Northern blot 18
cDNA source data(18)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase LOC100485607    NEW 
Molecular
reagents
All nucleic(20) Genomic(1) cDNA(19)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000009809 (Evidence)
Ensembl Gene Model ENSMUSG00000057530 (Evidence)
Entrez Gene 230857 (Evidence)
DFCI TC1677994, TC1605194, TC1574383
DoTS DT.87035452, DT.55200275, DT.532199, DT.103566788
NIA Mouse Gene Index U004990
EC 3.4.24.71
Consensus CDS Project CCDS18822.1
International Mouse Phenotyping Consortium Status Ece1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000009809 VEGA Gene Model | MGI Sequence Detail 102993 C57BL/6J ±  kb
transcript OTTMUST00000022738 VEGA | MGI Sequence Detail 4816 Not Applicable 
polypeptide OTTMUSP00000010377 VEGA | MGI Sequence Detail 753 Not Applicable 

For the selected sequences
All sequences(52) RefSeq(6) UniProt(4)
Polymorphisms
SNPs within 2kb(1636 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR024079 Metallopeptidase, catalytic domain
InterPro IPR000718 Peptidase M13
InterPro IPR018497 Peptidase M13, C-terminal domain
InterPro IPR008753 Peptidase M13, N-terminal domain
Protein Ontology PR:000006874 endothelin-converting enzyme 1
References
(Earliest) J:40232 Xu D, et al., ECE-1: a membrane-bound metalloprotease that catalyzes the proteolytic activation of big endothelin-1. Cell. 1994 Aug 12;78(3):473-85
(Latest) J:213829 Bard-Chapeau EA, et al., Mice carrying a hypomorphic Evi1 allele are embryonic viable but exhibit severe congenital heart defects. PLoS One. 2014;9(2):e89397
All references(56)
Disease annotation references (1)
Other
accession IDs
MGI:2140570

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/21/2015
MGI 5.22
The Jackson Laboratory