EDAD_MOUSE
ID EDAD_MOUSE Reviewed; 208 AA.
AC Q8VHX2;
DT 06-JUN-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2002, sequence version 1.
DT 25-MAY-2022, entry version 106.
DE RecName: Full=Ectodysplasin-A receptor-associated adapter protein;
DE AltName: Full=EDAR-associated death domain protein;
DE AltName: Full=Protein crinkled;
GN Name=Edaradd; Synonyms=Cr;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND MUTAGENESIS OF GLU-145.
RC STRAIN=FVB/N; TISSUE=Skin;
RX PubMed=11780064; DOI=10.1038/414913a;
RA Headon D.J., Emmal S.A., Ferguson B.M., Tucker A.S., Justice M.J.,
RA Sharpe P.T., Zonana J., Overbeek P.A.;
RT "Gene defect in ectodermal dysplasia implicates a DEATH domain adapter in
RT development.";
RL Nature 414:913-916(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], AND FUNCTION.
RC TISSUE=Skin;
RX PubMed=11882293; DOI=10.1016/s0960-9822(02)00687-5;
RA Yan M., Zhang Z., Brady J.R., Schilbach S., Fairbrother W.J., Dixit V.M.;
RT "Identification of a novel DEATH domain-containing adaptor molecule for
RT ectodysplasin-A receptor that is mutated in crinkled mice.";
RL Curr. Biol. 12:409-413(2002).
CC -!- FUNCTION: Adapter protein that interacts with EDAR DEATH domain and
CC couples the receptor to EDA signaling pathway during morphogenesis of
CC ectodermal organs. Mediates the activation of NF-kappa-B (By
CC similarity). {ECO:0000250, ECO:0000269|PubMed:11882293}.
CC -!- SUBUNIT: Binds EDAR. Self-associates and binds TRAF1, TRAF2 and TRAF3
CC (By similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
CC -!- DEVELOPMENTAL STAGE: Detected in embryonic skin (12.5 dpc and 14.5 dpc)
CC during the formation of hair follicles and at 15.5 dpc in the enamel
CC knot of the developing tooth. Detected in the basal layer of the
CC epidermis and hair follicles of P2 mice.
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DR EMBL; AF358671; AAL50376.1; -; mRNA.
DR CCDS; CCDS36593.1; -.
DR AlphaFoldDB; Q8VHX2; -.
DR SMR; Q8VHX2; -.
DR STRING; 10090.ENSMUSP00000136158; -.
DR PhosphoSitePlus; Q8VHX2; -.
DR EPD; Q8VHX2; -.
DR MaxQB; Q8VHX2; -.
DR PaxDb; Q8VHX2; -.
DR PRIDE; Q8VHX2; -.
DR MGI; MGI:1931001; Edaradd.
DR eggNOG; KOG4602; Eukaryota.
DR InParanoid; Q8VHX2; -.
DR PhylomeDB; Q8VHX2; -.
DR Reactome; R-MMU-5669034; TNFs bind their physiological receptors.
DR ChiTaRS; Edaradd; mouse.
DR PRO; PR:Q8VHX2; -.
DR Proteomes; UP000000589; Unplaced.
DR RNAct; Q8VHX2; protein.
DR GO; GO:0005737; C:cytoplasm; NAS:UniProtKB.
DR GO; GO:0005123; F:death receptor binding; NAS:UniProtKB.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0001942; P:hair follicle development; IGI:MGI.
DR GO; GO:0007249; P:I-kappaB kinase/NF-kappaB signaling; NAS:UniProtKB.
DR GO; GO:0042475; P:odontogenesis of dentin-containing tooth; IMP:MGI.
DR GO; GO:1901224; P:positive regulation of NIK/NF-kappaB signaling; ISO:MGI.
DR GO; GO:0061153; P:trachea gland development; IMP:MGI.
DR Gene3D; 1.10.533.10; -; 1.
DR InterPro; IPR011029; DEATH-like_dom_sf.
DR InterPro; IPR000488; Death_domain.
DR InterPro; IPR039200; EDARADD.
DR PANTHER; PTHR28469; PTHR28469; 1.
DR Pfam; PF00531; Death; 1.
DR SUPFAM; SSF47986; SSF47986; 1.
PE 1: Evidence at protein level;
KW Cytoplasm; Developmental protein; Differentiation; Reference proteome.
FT CHAIN 1..208
FT /note="Ectodysplasin-A receptor-associated adapter protein"
FT /id="PRO_0000086930"
FT DOMAIN 116..195
FT /note="Death"
FT REGION 1..99
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 74..90
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MUTAGEN 145
FT /note="E->K: Reduces binding to EDAR."
FT /evidence="ECO:0000269|PubMed:11780064"
FT CONFLICT 89
FT /note="R -> G (in Ref. 2)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 208 AA; 23753 MW; C5BFA0F91E5D5BC9 CRC64;
MASPDDPLRS DHMAKEPVED TDPSTLSFAM SDKYPIQDTG LPKAKECDTV NSNCPPNSDD
QPQGEENDFP DSTKDPLSGV SRNQPCKDRK GSCSCPSCSP RAPTISDLLN DQDLLDTIRI
KLDPCHPTVK NWRNFASKWG MPYDELCFLE QRPQSPTLEF LFRNSQRTVG QLMELCRLYH
RADVEKILRR WVDEEWPHRG HSDSSMHF