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Tumor necrosis factor receptor superfamily member EDAR (Anhidrotic ectodysplasin receptor 1) (Downless homolog) (EDA-A1 receptor) (Ectodermal dysplasia receptor) (Ectodysplasin-A receptor)

 EDAR_HUMAN              Reviewed;         448 AA.
Q9UNE0; B2R9H2; B4DLC5; D3DX74; E9PC98; Q52LL5; Q9UND9;
27-MAY-2002, integrated into UniProtKB/Swiss-Prot.
01-MAY-2000, sequence version 1.
22-NOV-2017, entry version 146.
RecName: Full=Tumor necrosis factor receptor superfamily member EDAR;
AltName: Full=Anhidrotic ectodysplasin receptor 1;
AltName: Full=Downless homolog;
AltName: Full=EDA-A1 receptor;
AltName: Full=Ectodermal dysplasia receptor;
AltName: Full=Ectodysplasin-A receptor;
Flags: Precursor;
Name=EDAR; Synonyms=DL;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANTS ECTD10B
ARG-87 AND HIS-89, AND VARIANT ECTD10A GLN-420.
TISSUE=Fetal heart, and Skin;
PubMed=10431241; DOI=10.1038/11937;
Monreal A.W., Ferguson B.M., Headon D.J., Street S.L., Overbeek P.A.,
Zonana J.;
"Mutations in the human homologue of mouse dl cause autosomal
recessive and dominant hypohidrotic ectodermal dysplasia.";
Nat. Genet. 22:366-369(1999).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
ALA-370.
TISSUE=Tongue;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15815621; DOI=10.1038/nature03466;
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H.,
Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M.,
Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E.,
Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J.,
Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C.,
Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J.,
Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A.,
Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K.,
Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M.,
Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N.,
Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M.,
Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E.,
Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P.,
Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A.,
Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A.,
Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T.,
Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D.,
Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X.,
McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
Miller W., Eichler E.E., Bork P., Suyama M., Torrents D.,
Waterston R.H., Wilson R.K.;
"Generation and annotation of the DNA sequences of human chromosomes 2
and 4.";
Nature 434:724-731(2005).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Liver;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
PROTEIN SEQUENCE OF 27-41.
PubMed=15340161; DOI=10.1110/ps.04682504;
Zhang Z., Henzel W.J.;
"Signal peptide prediction based on analysis of experimentally
verified cleavage sites.";
Protein Sci. 13:2819-2824(2004).
[7]
INTERACTION WITH EDA ISOFORM A1.
PubMed=11039935; DOI=10.1126/science.290.5491.523;
Yan M., Wang L.-C., Hymowitz S.G., Schilbach S., Lee J., Goddard A.,
de Vos A.M., Gao W.-Q., Dixit V.M.;
"Two-amino acid molecular switch in an epithelial morphogen that
regulates binding to two distinct receptors.";
Science 290:523-527(2000).
[8]
CHARACTERIZATION OF VARIANT GLN-420, MUTAGENESIS OF GLU-379,
CHARACTERIZATION, AND INTERACTION WITH TRAF1 AND TRAF3.
PubMed=11035039; DOI=10.1074/jbc.M008356200;
Kumar A., Eby M.T., Sinha S., Jasmin A., Chaudhary P.M.;
"The ectodermal dysplasia receptor activates the nuclear factor-
kappaB, JNK, and cell death pathways and binds to ectodysplasin A.";
J. Biol. Chem. 276:2668-2677(2001).
[9]
VARIANT ECTD10B HIS-375, AND CHARACTERIZATION OF VARIANT ECTD10B
HIS-375.
PubMed=15373768; DOI=10.1111/j.0022-202X.2004.23405.x;
Shimomura Y., Sato N., Miyashita A., Hashimoto T., Ito M., Kuwano R.;
"A rare case of hypohidrotic ectodermal dysplasia caused by compound
heterozygous mutations in the EDAR gene.";
J. Invest. Dermatol. 123:649-655(2004).
[10]
VARIANT ECTD10B SER-382.
PubMed=16029325; DOI=10.1111/j.1365-2133.2005.06642.x;
Naeem M., Muhammad D., Ahmad W.;
"Novel mutations in the EDAR gene in two Pakistani consanguineous
families with autosomal recessive hypohidrotic ectodermal dysplasia.";
Br. J. Dermatol. 153:46-50(2005).
[11]
VARIANTS ECTD10B TYR-47; HIS-89; ALA-110; ARG-148; PHE-377; MET-403;
PRO-413; THR-418; GLN-420 AND CYS-434.
PubMed=16435307; DOI=10.1002/humu.20295;
Chassaing N., Bourthoumieu S., Cossee M., Calvas P., Vincent M.-C.;
"Mutations in EDAR account for one-quarter of non-ED1-related
hypohidrotic ectodermal dysplasia.";
Hum. Mutat. 27:255-259(2006).
[12]
VARIANTS ECTD10B HIS-89 AND ALA-110, AND VARIANT ECTD10A GLN-420.
PubMed=18231121; DOI=10.1038/sj.ejhg.5202012;
van der Hout A.H., Oudesluijs G.G., Venema A., Verheij J.B.G.M.,
Mol B.G.J., Rump P., Brunner H.G., Vos Y.J., van Essen A.J.;
"Mutation screening of the ectodysplasin-A receptor gene EDAR in
hypohidrotic ectodermal dysplasia.";
Eur. J. Hum. Genet. 16:673-679(2008).
[13]
VARIANT ALA-370, CHARACTERIZATION OF VARIANT ALA-370, AND ASSOCIATION
WITH HAIR MORPHOLOGY TYPE 1.
PubMed=18065779; DOI=10.1093/hmg/ddm355;
Fujimoto A., Kimura R., Ohashi J., Omi K., Yuliwulandari R.,
Batubara L., Mustofa M.S., Samakkarn U., Settheetham-Ishida W.,
Ishida T., Morishita Y., Furusawa T., Nakazawa M., Ohtsuka R.,
Tokunaga K.;
"A scan for genetic determinants of human hair morphology: EDAR is
associated with Asian hair thickness.";
Hum. Mol. Genet. 17:835-843(2008).
[14]
CHARACTERIZATION OF VARIANT ALA-370.
PubMed=18561327; DOI=10.1002/humu.20795;
Mou C., Thomason H.A., Willan P.M., Clowes C., Harris W.E., Drew C.F.,
Dixon J., Dixon M.J., Headon D.J.;
"Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple
fiber characteristics to produce the East Asian hair form.";
Hum. Mutat. 29:1405-1411(2008).
[15]
VARIANTS ECTD10B GLN-98; GLN-358 AND ARG-434.
PubMed=19438931; DOI=10.1111/j.1399-0004.2009.01178.x;
Shimomura Y., Wajid M., Weiser J., Kraemer L., Ishii Y., Lombillo V.,
Bale S.J., Christiano A.M.;
"Identification of mutations in the EDA and EDAR genes in Pakistani
families with hypohidrotic ectodermal dysplasia.";
Clin. Genet. 75:582-584(2009).
[16]
VARIANTS ECTD10B HIS-89; GLN-358; GLN-396 INS; MET-403; PHE-408 AND
GLN-420.
PubMed=20979233; DOI=10.1002/humu.21384;
Cluzeau C., Hadj-Rabia S., Jambou M., Mansour S., Guigue P.,
Masmoudi S., Bal E., Chassaing N., Vincent M.C., Viot G., Clauss F.,
Maniere M.C., Toupenay S., Le Merrer M., Lyonnet S., Cormier-Daire V.,
Amiel J., Faivre L., de Prost Y., Munnich A., Bonnefont J.P.,
Bodemer C., Smahi A.;
"Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of
hypohidrotic/anhidrotic ectodermal dysplasia cases.";
Hum. Mutat. 32:70-72(2011).
[17]
VARIANT ECTD10B GLN-420, AND VARIANT LEU-370.
PubMed=27657131; DOI=10.3390/genes7090065;
Zeng B., Xiao X., Li S., Lu H., Lu J., Zhu L., Yu D., Zhao W.;
"Eight mutations of three genes (EDA, EDAR, and WNT10A) identified in
seven hypohidrotic ectodermal dysplasia patients.";
Genes (Basel) 7:0-0(2016).
-!- FUNCTION: Receptor for EDA isoform A1, but not for EDA isoform A2.
Mediates the activation of NF-kappa-B and JNK. May promote
caspase-independent cell death.
-!- SUBUNIT: Binds to EDARADD. Associates with TRAF1, TRAF2, TRAF3 and
NIK.
-!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
membrane protein {ECO:0000305}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=Q9UNE0-1; Sequence=Displayed;
Name=2;
IsoId=Q9UNE0-2; Sequence=VSP_054187;
Note=No experimental confirmation available. Ref.2 (BAG59487)
sequence is in conflict in position: 229:F->L. {ECO:0000305};
-!- TISSUE SPECIFICITY: Detected in fetal kidney, lung, skin and
cultured neonatal epidermal keratinocytes. Not detected in
lymphoblast and fibroblast cell lines.
-!- DEVELOPMENTAL STAGE: Found in craniofacial tissues from embryonic
day 42-53. Expressed in fetal skin 11 and 15 weeks after
gestation.
-!- POLYMORPHISM: Genetic variation in EDAR is associated with
variations in head hair thickness and defines the hair morphology
locus 1 (HRM1) [MIM:612630]. Besides skin color and facial
features, hair morphology is one of the most distinctive traits
among human populations, and classical classification of human
population is based on such visible traits.
-!- DISEASE: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type,
autosomal dominant (ECTD10A) [MIM:129490]: A form of ectodermal
dysplasia, a heterogeneous group of disorders due to abnormal
development of two or more ectodermal structures. It is an
autosomal dominant condition characterized by hypotrichosis,
abnormal or missing teeth, and hypohidrosis due to the absence of
sweat glands. {ECO:0000269|PubMed:10431241,
ECO:0000269|PubMed:18231121}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type,
autosomal recessive (ECTD10B) [MIM:224900]: A disorder due to
abnormal development of two or more ectodermal structures, and
characterized by sparse hair (atrichosis or hypotrichosis),
abnormal or missing teeth and the inability to sweat due to the
absence of sweat glands. {ECO:0000269|PubMed:10431241,
ECO:0000269|PubMed:15373768, ECO:0000269|PubMed:16029325,
ECO:0000269|PubMed:16435307, ECO:0000269|PubMed:18231121,
ECO:0000269|PubMed:19438931, ECO:0000269|PubMed:20979233,
ECO:0000269|PubMed:27657131}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
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EMBL; AF130988; AAD50076.1; -; mRNA.
EMBL; AF130996; AAD50077.1; -; Genomic_DNA.
EMBL; AF130990; AAD50077.1; JOINED; Genomic_DNA.
EMBL; AF130991; AAD50077.1; JOINED; Genomic_DNA.
EMBL; AF130992; AAD50077.1; JOINED; Genomic_DNA.
EMBL; AF130993; AAD50077.1; JOINED; Genomic_DNA.
EMBL; AF130994; AAD50077.1; JOINED; Genomic_DNA.
EMBL; AF130995; AAD50077.1; JOINED; Genomic_DNA.
EMBL; AK296936; BAG59487.1; -; mRNA.
EMBL; AK313781; BAG36519.1; -; mRNA.
EMBL; AC073415; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC092160; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC133784; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471182; EAW53869.1; -; Genomic_DNA.
EMBL; BC093870; AAH93870.1; -; mRNA.
EMBL; BC093872; AAH93872.1; -; mRNA.
CCDS; CCDS2081.1; -. [Q9UNE0-1]
RefSeq; NP_071731.1; NM_022336.3. [Q9UNE0-1]
RefSeq; XP_006712267.1; XM_006712204.1. [Q9UNE0-2]
UniGene; Hs.171971; -.
ProteinModelPortal; Q9UNE0; -.
SMR; Q9UNE0; -.
BioGrid; 116118; 7.
IntAct; Q9UNE0; 7.
STRING; 9606.ENSP00000258443; -.
ChEMBL; CHEMBL1250376; -.
iPTMnet; Q9UNE0; -.
PhosphoSitePlus; Q9UNE0; -.
BioMuta; EDAR; -.
DMDM; 21263572; -.
PaxDb; Q9UNE0; -.
PeptideAtlas; Q9UNE0; -.
PRIDE; Q9UNE0; -.
DNASU; 10913; -.
Ensembl; ENST00000258443; ENSP00000258443; ENSG00000135960. [Q9UNE0-1]
Ensembl; ENST00000376651; ENSP00000365839; ENSG00000135960. [Q9UNE0-2]
Ensembl; ENST00000409271; ENSP00000386371; ENSG00000135960. [Q9UNE0-2]
GeneID; 10913; -.
KEGG; hsa:10913; -.
UCSC; uc002teq.4; human. [Q9UNE0-1]
CTD; 10913; -.
DisGeNET; 10913; -.
EuPathDB; HostDB:ENSG00000135960.9; -.
GeneCards; EDAR; -.
GeneReviews; EDAR; -.
HGNC; HGNC:2895; EDAR.
HPA; HPA042292; -.
MalaCards; EDAR; -.
MIM; 129490; phenotype.
MIM; 224900; phenotype.
MIM; 604095; gene.
MIM; 612630; phenotype.
neXtProt; NX_Q9UNE0; -.
OpenTargets; ENSG00000135960; -.
Orphanet; 1810; Autosomal dominant hypohidrotic ectodermal dysplasia.
Orphanet; 248; Autosomal recessive hypohidrotic ectodermal dysplasia.
PharmGKB; PA27602; -.
eggNOG; ENOG410IGTD; Eukaryota.
eggNOG; ENOG41104RU; LUCA.
GeneTree; ENSGT00730000111254; -.
HOGENOM; HOG000112327; -.
HOVERGEN; HBG031530; -.
InParanoid; Q9UNE0; -.
KO; K05162; -.
OMA; GYQICRR; -.
OrthoDB; EOG091G0ADI; -.
PhylomeDB; Q9UNE0; -.
TreeFam; TF331385; -.
Reactome; R-HSA-5669034; TNFs bind their physiological receptors.
SIGNOR; Q9UNE0; -.
GeneWiki; EDAR; -.
GenomeRNAi; 10913; -.
PRO; PR:Q9UNE0; -.
Proteomes; UP000005640; Chromosome 2.
Bgee; ENSG00000135960; -.
CleanEx; HS_EDAR; -.
Genevisible; Q9UNE0; HS.
GO; GO:0045177; C:apical part of cell; IEA:Ensembl.
GO; GO:0016021; C:integral component of membrane; NAS:UniProtKB.
GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
GO; GO:0004872; F:receptor activity; IDA:HGNC.
GO; GO:0004888; F:transmembrane signaling receptor activity; NAS:UniProtKB.
GO; GO:0006915; P:apoptotic process; IEA:UniProtKB-KW.
GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
GO; GO:0008544; P:epidermis development; TAS:HGNC.
GO; GO:0001942; P:hair follicle development; IEA:Ensembl.
GO; GO:0042475; P:odontogenesis of dentin-containing tooth; IEA:Ensembl.
GO; GO:0043473; P:pigmentation; IEA:Ensembl.
GO; GO:0010628; P:positive regulation of gene expression; IEA:Ensembl.
GO; GO:0043123; P:positive regulation of I-kappaB kinase/NF-kappaB signaling; IBA:GO_Central.
GO; GO:0046330; P:positive regulation of JNK cascade; IBA:GO_Central.
GO; GO:0042346; P:positive regulation of NF-kappaB import into nucleus; IEA:Ensembl.
GO; GO:0060662; P:salivary gland cavitation; IEA:Ensembl.
GO; GO:0033209; P:tumor necrosis factor-mediated signaling pathway; TAS:Reactome.
CDD; cd13421; TNFRSF_EDAR; 1.
InterPro; IPR011029; DEATH-like_dom_sf.
InterPro; IPR034052; EDAR_N.
SUPFAM; SSF47986; SSF47986; 1.
1: Evidence at protein level;
Alternative splicing; Apoptosis; Complete proteome;
Developmental protein; Differentiation; Direct protein sequencing;
Disease mutation; Disulfide bond; Ectodermal dysplasia; Glycoprotein;
Membrane; Polymorphism; Receptor; Reference proteome; Repeat; Signal;
Transmembrane; Transmembrane helix.
SIGNAL 1 26 {ECO:0000269|PubMed:15340161}.
CHAIN 27 448 Tumor necrosis factor receptor
superfamily member EDAR.
/FTId=PRO_0000034608.
TOPO_DOM 27 187 Extracellular. {ECO:0000255}.
TRANSMEM 188 208 Helical. {ECO:0000255}.
TOPO_DOM 209 448 Cytoplasmic. {ECO:0000255}.
REPEAT 30 71 TNFR-Cys 1.
REPEAT 73 113 TNFR-Cys 2.
REPEAT 115 148 TNFR-Cys 3.
DOMAIN 358 431 Death.
CARBOHYD 38 38 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 31 44 {ECO:0000250}.
DISULFID 47 60 {ECO:0000250}.
DISULFID 50 71 {ECO:0000250}.
DISULFID 74 87 {ECO:0000250}.
DISULFID 93 113 {ECO:0000250}.
DISULFID 135 148 {ECO:0000250}.
VAR_SEQ 219 219 A -> GDGPHAPVPCFLDSPSTPPVGEPGCSLPPLSPA
(in isoform 2).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_054187.
VARIANT 47 47 C -> Y (in ECTD10B; dbSNP:rs778903951).
{ECO:0000269|PubMed:16435307}.
/FTId=VAR_054444.
VARIANT 87 87 C -> R (in ECTD10B; dbSNP:rs121908451).
{ECO:0000269|PubMed:10431241}.
/FTId=VAR_013448.
VARIANT 89 89 R -> H (in ECTD10B; dbSNP:rs121908450).
{ECO:0000269|PubMed:10431241,
ECO:0000269|PubMed:16435307,
ECO:0000269|PubMed:18231121,
ECO:0000269|PubMed:20979233}.
/FTId=VAR_013449.
VARIANT 98 98 R -> Q (in ECTD10B; dbSNP:rs144473052).
{ECO:0000269|PubMed:19438931}.
/FTId=VAR_064830.
VARIANT 110 110 D -> A (in ECTD10B; dbSNP:rs121908455).
{ECO:0000269|PubMed:16435307,
ECO:0000269|PubMed:18231121}.
/FTId=VAR_054445.
VARIANT 148 148 C -> R (in ECTD10B).
{ECO:0000269|PubMed:16435307}.
/FTId=VAR_054446.
VARIANT 358 358 R -> Q (in ECTD10B).
{ECO:0000269|PubMed:19438931,
ECO:0000269|PubMed:20979233}.
/FTId=VAR_064831.
VARIANT 370 370 V -> A (associated with increase in hair
thickness; results in decreased
downstream activity of NFKB1 48 hours
after transfection into cells;
dbSNP:rs3827760).
{ECO:0000269|PubMed:14702039,
ECO:0000269|PubMed:18065779,
ECO:0000269|PubMed:18561327}.
/FTId=VAR_020011.
VARIANT 370 370 V -> L. {ECO:0000269|PubMed:27657131}.
/FTId=VAR_077562.
VARIANT 375 375 R -> H (in ECTD10B; the mutant protein
does not interact with EDARADD and is
functionally inactive;
dbSNP:rs121908454).
{ECO:0000269|PubMed:15373768}.
/FTId=VAR_054447.
VARIANT 377 377 L -> F (in ECTD10B).
{ECO:0000269|PubMed:16435307}.
/FTId=VAR_054448.
VARIANT 382 382 G -> S (in ECTD10B; dbSNP:rs747806672).
{ECO:0000269|PubMed:16029325}.
/FTId=VAR_054449.
VARIANT 396 396 Q -> QQ (in ECTD10B).
{ECO:0000269|PubMed:20979233}.
/FTId=VAR_064832.
VARIANT 403 403 T -> M (in ECTD10B).
{ECO:0000269|PubMed:16435307,
ECO:0000269|PubMed:20979233}.
/FTId=VAR_054450.
VARIANT 408 408 I -> F (in ECTD10B).
{ECO:0000269|PubMed:20979233}.
/FTId=VAR_064833.
VARIANT 413 413 T -> P (in ECTD10B).
{ECO:0000269|PubMed:16435307}.
/FTId=VAR_054451.
VARIANT 418 418 I -> T (in ECTD10B).
{ECO:0000269|PubMed:16435307}.
/FTId=VAR_054452.
VARIANT 420 420 R -> Q (in ECTD10A and ECTD10B; abolishes
NF-kappa-B activation and reduces JNK
activation; dbSNP:rs121908453).
{ECO:0000269|PubMed:10431241,
ECO:0000269|PubMed:11035039,
ECO:0000269|PubMed:16435307,
ECO:0000269|PubMed:18231121,
ECO:0000269|PubMed:20979233,
ECO:0000269|PubMed:27657131}.
/FTId=VAR_013450.
VARIANT 434 434 W -> C (in ECTD10B; dbSNP:rs528478080).
{ECO:0000269|PubMed:16435307}.
/FTId=VAR_054453.
VARIANT 434 434 W -> R (in ECTD10B; dbSNP:rs773885029).
{ECO:0000269|PubMed:19438931}.
/FTId=VAR_064834.
MUTAGEN 379 379 E->K: Reduces activation of NF-kappa-B.
{ECO:0000269|PubMed:11035039}.
CONFLICT 156 156 S -> P (in Ref. 2; BAG36519).
{ECO:0000305}.
CONFLICT 262 262 P -> S (in Ref. 1; AAD50077).
{ECO:0000305}.
SEQUENCE 448 AA; 48582 MW; AC8D61249D608439 CRC64;
MAHVGDCTQT PWLPVLVVSL MCSARAEYSN CGENEYYNQT TGLCQECPPC GPGEEPYLSC
GYGTKDEDYG CVPCPAEKFS KGGYQICRRH KDCEGFFRAT VLTPGDMEND AECGPCLPGY
YMLENRPRNI YGMVCYSCLL APPNTKECVG ATSGASANFP GTSGSSTLSP FQHAHKELSG
QGHLATALII AMSTIFIMAI AIVLIIMFYI LKTKPSAPAC CTSHPGKSVE AQVSKDEEKK
EAPDNVVMFS EKDEFEKLTA TPAKPTKSEN DASSENEQLL SRSVDSDEEP APDKQGSPEL
CLLSLVHLAR EKSATSNKSA GIQSRRKKIL DVYANVCGVV EGLSPTELPF DCLEKTSRML
SSTYNSEKAV VKTWRHLAES FGLKRDEIGG MTDGMQLFDR ISTAGYSIPE LLTKLVQIER
LDAVESLCAD ILEWAGVVPP ASQPHAAS


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