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ectodysplasin-A; ectodermal dysplasia protein; EDA protein; contains: ectodysplasin-A, membrane form; contains: ectodysplasin-A, secreted form (EDA, ED1, EDA2)
Function:
- seems to be involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs
- isoform 1 binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor XEDAR
- processing by furin produces a secreted form
- homotrimer
- homotrimers may then dimerize & form higher order oligomers
Structure:
- N-glycosylated
- belongs to the tumor necrosis factor family
- contains 1 collagen-like domain
Compartment:
- cell membrane; single-pass type 2 membrane protein
- ectodysplasin-A, secreted form: secreted
Alternative splicing:
- named isoforms=8
- additional isoforms seem to exist
- at least one isoform may be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay
Expression:
- not abundant
- expressed in specific cell types of ectodermal (but not mesodermal) origin of keratinocytes, hair follicles, sweat glands
- also expressed in adult heart, liver, muscle, pancreas, prostate, fetal liver, uterus, small intestine & umbilical chord
Pathology:
- defects in EDA are the cause of
a) ectodermal dysplasia type 1
b) tooth agenesis selective X-linked type 1
Related
anhidrotic ectodermal dysplasia
tumor necrosis factor receptor superfamily member EDAR; Anhidrotic ectodysplasin receptor 1; ectodysplasin-A receptor; EDA-A1 receptor; ectodermal dysplasia receptor; downless homolog (EDAR, DL)
General
glycoprotein
membrane protein
Properties
SIZE: entity length = 391 aa
MW = 41 kD
COMPARTMENT: cellular membrane
MOTIF: transmembrane domain {42-62}
proteolytic site {159-160}
Collagen-like {180-229}
N-glycosylation site {N313}
N-glycosylation site {N372}
Database Correlations
OMIM correlations
UniProt Q92838
PFAM correlations
Entrez Gene 1896
Kegg hsa:1896
References
- UniProt :accession Q92838
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/EDA