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Ecel1
Gene Detail
 Symbol
Name
ID
Ecel1
endothelin converting enzyme-like 1
MGI:1343461
Synonyms DINE, XCE
Feature Type protein coding gene
Genetic Map
Chromosome 1
44.06 cM, cytoband C5
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr1:87147655-87156521 bp, - strand
From VEGA annotation of GRCm38

  8867 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3549  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog

Protein SuperFamily: neprilysin-like metallopeptidase
Gene Tree: Ecel1

Human
homologs
Human Homolog ECEL1, endothelin converting enzyme-like 1
NCBI Gene ID 9427
neXtProt AC  NX_O95672
Human Synonyms  DA5D, DINE, ECEX, XCE
Human Chr (Location)  2q37.1; chr2:232479827-232487822 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human ECEL1
Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Targeted(5)
Incidental mutations (data from APF )
 
Targeted mutations of this gene result in respiratory distress causing neonatal lethality due to reduced diaphram innervation.
 
Phenotype Images(2)
Interactions
Ecel1 interacts with 45 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process intracellular signal transduction, neuropeptide signaling pathway, ...
Component integral component of membrane, integral component of plasma membrane, ...
Function hydrolase activity, metal ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (43)    Tissues (29)    Images (13)
Theiler Stages: 19, 23, 28
Assay TypeResults
RNA in situ 43
cDNA source data(12)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(12) cDNA(12)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000034823 (Evidence)
Ensembl Gene ModelENSMUSG00000026247 (Evidence)
Entrez Gene13599 (Evidence)
UniGene140765
DFCITC1583089
DoTSDT.101180387, DT.40170515
NIA Mouse Gene IndexU021567
EC3.4.24.-
Consensus CDS ProjectCCDS15128.1
International Mouse Knockout Project StatusEcel1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000034823 VEGA Gene Model | MGI Sequence Detail 8867 C57BL/6J ±  kb
transcript OTTMUST00000088526 VEGA | MGI Sequence Detail 3033 Not Applicable 
polypeptide OTTMUSP00000048251 VEGA | MGI Sequence Detail 775 Not Applicable 

For the selected sequences
All sequences(44) RefSeq(14) UniProt(2)
Polymorphisms SNPs within 2kb(19 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:000006876 endothelin-converting enzyme-like 1
References (Earliest) J:56300 Schweizer A, et al., Neonatal lethality in mice deficient in XCE, a novel member of the endothelin-converting enzyme and neutral endopeptidase family. J Biol Chem. 1999 Jul 16;274(29):20450-6
(Latest) J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(31)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/16/2014
MGI 5.19
The Jackson Laboratory