Entity Details

Primary name ECEL1
Entity type gene
Source Source Link

Details

PrimaryID9427
RefseqGeneNG_034065
SymbolECEL1
Nameendothelin converting enzyme like 1
Chromosome2
Location2q37.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-04-22
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsECEL1_HUMAN

GO terms

Show/Hide Table
GOName
GO:0003016 respiratory system process
GO:0004222 metalloendopeptidase activity
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0007218 neuropeptide signaling pathway
GO:0008237 metallopeptidase activity
GO:0016485 protein processing
GO:0046872 metal ion binding

Diseases

Show/Hide Table
Disease IDSourceNameDescription
615065 OMIMArthrogryposis, distal, 5D (DA5D)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. The disease is caused by variants affecting the gene represented in this entry. ECEL1 mutations have also been found in patients with arthrogryposis, significant ophthalmoplegia, and refractive errors (PubMed:23808592).

Interactions

13 interactions

InteractorPartnerSourcesPublicationsLink
ECEL1USP19BioGRID23500468 details
ECEL1UPK1ABioGRID, IntAct28514442 details
ECEL1SCGB2A2BioGRID, IntAct28514442 details
ECEL1CLEC2DBioGRID, IntAct28514442 details
ECEL1HLA-EBioGRID, IntAct26186194 28514442 details
ECEL1IL17RCBioGRID, IntAct28514442 details
ECEL1CD1BBioGRID, IntAct26186194 28514442 details
ECEL1MPPE1BioGRID, IntAct28514442 details
ECEL1VNN2BioGRID, IntAct28514442 details
ECEL1OCIAD2BioGRID, IntAct30021884 details
ECEL1FBXO6BioGRID22268729 details
ECEL1KIF14BioGRID31586073 details
ECEL1NPC1BioGRID33144569 details