Version 5.4
Homo sapiens Gene: ECEL1
Summary
InnateDB Gene IDBG-83251.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ECEL1
Gene Name endothelin converting enzyme-like 1
Synonyms DA5D; DINE; ECEX; XCE
Species Homo sapiens
Ensembl Gene ENSG00000171551
Encoded Proteins
IDBP-83253
endothelin converting enzyme-like 1
IDBP-292908
endothelin converting enzyme-like 1
IDBP-389301
endothelin converting enzyme-like 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the M13 family of endopeptidases. In general, M13 family members are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. This gene is expressed specifically in the central nervous system and its protein localizes predominately to the endoplasmic reticulum or, in trace amounts, to the cell surface. Disruption of this gene in mouse embryonic stem cells results in neonatal lethality due to respiratory failure shortly after birth. Based on the specific expression of this gene and the phenotype of the gene deficiency in mouse embryos, it is suggested that this protein plays a critical role in neural regulation of the respiratory system. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008]
This gene encodes a member of the M13 family of endopeptidases. Members of this family are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. Mutations in this gene are associated with autosomal recessive distal arthrogryposis, type 5D. This gene has multiple pseudogenes on chromosome 2. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:232479827-232487828
Strand Reverse strand
Band q37.1
Transcripts
ENST00000304546 ENSP00000302051
ENST00000409941 ENSP00000386333
ENST00000411860 ENSP00000412683
ENST00000482346
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004222 metalloendopeptidase activity
GO:0008237 metallopeptidase activity
GO:0046872 metal ion binding
Biological Process
GO:0003016 respiratory system process
GO:0006508 proteolysis
GO:0007218 neuropeptide signaling pathway
Cellular Component
GO:0005887 integral component of plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000026247
View Gene Order
ENSBTAG00000021050
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.26880
RefSeq NM_001290787 NM_004826
HUGO
OMIM
CCDS CCDS2493
HPRD 07066
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca