InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ECEL1

Summary

InnateDB Protein

IDBP-83253.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ECEL1

Protein Name

endothelin converting enzyme-like 1

Synonyms

DA5D; DINE; ECEX; XCE;

Species

Homo sapiens

Ensembl Protein

ENSP00000302051

InnateDB Gene

IDBG-83251 (ECEL1)

Protein Structure

UniProt Annotation

Function

May contribute to the degradation of peptide hormones and be involved in the inactivation of neuronal peptides.

Subcellular Localization

Membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.

Disease Associations

Arthrogryposis, distal, 5D (DA5D) [MIM:615065]: An autosomal recessive form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA5D is characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, clubfoot and/or a calcaneovalgus deformity, extension contractures of the knee, unilateral ptosis or ptosis that is more severe on one side, a round-shaped face, arched eyebrows, a bulbous upturned nose, and micrognathia. Patients do not have ophthalmoplegia. {ECO:0000269PubMed:23236030, ECO:0000269PubMed:23261301, ECO:0000269PubMed:23808592, ECO:0000269PubMed:23829171}. Note=The disease is caused by mutations affecting the gene represented in this entry. ECEL1 mutations have also been found in patients with arthrogryposis, significant ophthalmoplegia, and refractive errors (PubMed:23808592). {ECO:0000269PubMed:23808592}.

Tissue Specificity

Highly expressed in the CNS, in particular in putamen, spinal cord, medulla and subthalamic nucleus. A strong signal was also detected in uterine subepithelial cells and around renal blood vessels. Detected at lower levels in amygdala, caudate, thalamus, pancreas and skeletal muscle. Detected at very low levels in substantia nigra, cerebellum, cortex, corpus callosum and hippocampus.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.