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tumor necrosis factor receptor superfamily member EDAR; Anhidrotic ectodysplasin receptor 1; ectodysplasin-A receptor; EDA-A1 receptor; ectodermal dysplasia receptor; downless homolog (EDAR, DL)
Function:
- receptor for EDA isoform A1, but not for EDA isoform A2
- mediates activation of NF-kappa-B & JNK
- may promote caspase-independent cell death
- binds to EDARADD.
- associates with TRAF1, TRAF2, TRAF3 & NIK
Structure:
- contains 1 death domain
- contains 3 TNFR-Cys repeats
Compartment: membrane
Expression:
- detected in fetal kidney, lung, skin & cultured neonatal epidermal keratinocytes
- not detected in lymphoblast & fibroblast cell lines
- found in craniofacial tissues from embryonic day 42-53
- expressed in fetal skin 11 & 15 weeks after gestation
Pathology:
- defects in EDAR are a cause of:
a) anhidrotic ectodermal dysplasia
b) ectodermal dysplasia type 3
General
glycoprotein
phosphoprotein
tumor necrosis factor [TNF] receptor family
Properties
SIZE: entity length = 448 aa
MW = 49 kD
COMPARTMENT: cellular membrane
MOTIF: signal sequence {1-26}
TNFR-Cys {30-71}
MOTIF: cysteine residue {C31}
MODIFICATION: cysteine residue {C44}
N-glycosylation site {N38}
cysteine residue {C44}
MODIFICATION: cysteine residue {C31}
cysteine residue {C47}
MODIFICATION: cysteine residue {C60}
cysteine residue {C50}
MODIFICATION: cysteine residue {C71}
cysteine residue {C60}
MODIFICATION: cysteine residue {C47}
cysteine residue {C71}
MODIFICATION: cysteine residue {C50}
TNFR-Cys {73-113}
MOTIF: cysteine residue {C74}
MODIFICATION: cysteine residue {C87}
cysteine residue {C87}
MODIFICATION: cysteine residue {C74}
cysteine residue {C93}
MODIFICATION: cysteine residue {C113}
cysteine residue {C113}
MODIFICATION: cysteine residue {C93}
TNFR-Cys {115-148}
MOTIF: cysteine residue {C135}
MODIFICATION: cysteine residue {C148}
cysteine residue {C148}
MODIFICATION: cysteine residue {C135}
transmembrane domain {188-208}
Ser phosphorylation site {S324}
death domain
NAME: death domain
SITE: 358-431
Database Correlations
OMIM correlations
MORBIDMAP 604095
UniProt Q9UNE0
Pfam PF00531
Kegg hsa:1091
References
- UniProt :accession Q9UNE0
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=EDAR