ECEL1

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]

Description

Endothelin converting enzyme like 1

Tissue specificity

Group enriched (brain, ovary, pituitary gland)

Subcell location

Nucleoplasm, Nuclear membrane, Nucleoli

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

2 (232479827 - 232487834)

Ensembl ID

ENSG00000171551  (ver. 103.38)

Orthologs

Mouse Ecel1: ENSMUSG00000026247

UniProt

O95672

neXtProt

NX_O95672

Human splice variants
Mouse splice variants

Protein structure