ECEL1
Sign in to saveAlso known as DA5D, DINE, ECEX, XCE, endothelin converting enzyme-like 1, endothelin converting enzyme like 1
gen de la especie Homo sapiens
Gene data
ECEL1- Name
- endothelin converting enzyme like 1
- Type
- protein-coding
- Position
- 232,479,825–232,489,045 (−)
- Aliases
- DA5D, DINE, ECEX, XCE
- Ensembl
- ENSG00000171551
- RefSeq RNA
- NM_001290787.2, NM_004826.4
- RefSeq protein
- NP_001277716.1, NP_004817.2
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 Ontology
Biological process
Molecular function
Cellular component
via MyGene.info
Gene · Ensembl
endothelin converting enzyme like 1
- Symbol
- ECEL1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 2:232,479,825-232,489,045
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 3549
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/9427
- genomic end
- 232487834
- genomic start
- 233344537
- chromosome
- human chromosome 2
- cytogenetic location
- 2q37.1
- expressed in
- caudate nucleus
Sources (4)
via Wikidata · CC0