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 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: neprilysin-like metallopeptidase
Gene Tree: Ece1

Human homologs

Human Homolog		ECE1, endothelin converting enzyme 1
NCBI Gene ID		1889
neXtProt AC		NX_P42892
Human Synonyms		ECE
Human Chr (Location)		1p36.1; chr1:21543740-21672034 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human ECE1

Alleles and phenotypes

All alleles(105) : Targeted(3) Gene trapped(102)
 

Homozygotes for targeted null mutations show cardiac and craniofacial abnormalities and embryonic mortality.

 
Human Diseases Modeled Using Mouse Ece1 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(2)

Gene Ontology (GO) classifications

All GO classifications: (41 annotations)

Process	apoptotic process, bradykinin catabolic process, ...
Component	cell surface, early endosome, ...
Function	endopeptidase activity, hydrolase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (11 records)
Data Summary: Results (114)    Tissues (44)    Images (50)
Theiler Stages: 11, 13, 20, 22, 23, 24, 25, 26, 28

Assay Type	Results
RNA in situ	96
Northern blot	18

cDNA source data(124)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(126) Genomic(1) cDNA(125)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000009809 (Evidence)
Ensembl Gene Model	ENSMUSG00000057530 (Evidence)
Entrez Gene	230857 (Evidence)
UniGene	401062
DFCI	TC1574383, TC1605194, TC1677994
DoTS	DT.103566788, DT.532199, DT.55200275, DT.87035452
NIA Mouse Gene Index	U004990
EC	3.4.24.71
Consensus CDS Project	CCDS18822.1
International Mouse Knockout Project Status	Ece1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000009809	VEGA Gene Model | MGI Sequence Detail	102993	C57BL/6J
transcript	OTTMUST00000022738	VEGA | MGI Sequence Detail	4816	Not Applicable
polypeptide	OTTMUSP00000010377	VEGA | MGI Sequence Detail	753	Not Applicable

All sequences(47) RefSeq(2) UniProt(4)

Polymorphisms

SNPs(791 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR024079	Metallopeptidase, catalytic domain
InterPro	IPR008753	Peptidase M13
InterPro	IPR000718	Peptidase M13, neprilysin
InterPro	IPR018497	Peptidase M13, neprilysin, C-terminal
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:191554 Pelayo JC, et al., Endothelin-converting enzyme-1 regulates trafficking and signalling of the neurokinin 1 receptor in endosomes of myenteric neurones. J Physiol. 2011 Nov 1;589(Pt 21):5213-30
All references(55)

Other accession IDs

MGI:2140570