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Protein

Tumor necrosis factor receptor superfamily member EDAR

Gene

Edar

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Receptor for EDA isoform TAA, but not for EDA isoform TA-2 (By similarity). May mediate the activation of NF-kappa-B and JNK. May promote caspase-independent cell death.By similarity

GO - Molecular functioni

GO - Biological processi

  • apoptotic process Source: UniProtKB-KW
  • cell differentiation Source: UniProtKB-KW
  • hair follicle development Source: MGI
  • odontogenesis of dentin-containing tooth Source: MGI
  • pigmentation Source: MGI
  • positive regulation of gene expression Source: MGI
  • positive regulation of JNK cascade Source: GO_Central
  • positive regulation of NIK/NF-kappaB signaling Source: MGI
  • salivary gland cavitation Source: MGI

Keywordsi

Molecular functionDevelopmental protein, Receptor
Biological processApoptosis, Differentiation

Enzyme and pathway databases

ReactomeiR-MMU-5669034 TNFs bind their physiological receptors

Names & Taxonomyi

Protein namesi
Recommended name:
Tumor necrosis factor receptor superfamily member EDAR
Alternative name(s):
Anhidrotic ectodysplasin receptor 1
Downless
Ectodermal dysplasia receptor
Ectodysplasin-A receptor
Gene namesi
Name:Edar
Synonyms:Dl
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 10

Organism-specific databases

MGIiMGI:1343498 Edar

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini27 – 187ExtracellularSequence analysisAdd BLAST161
Transmembranei188 – 208HelicalSequence analysisAdd BLAST21
Topological domaini209 – 448CytoplasmicSequence analysisAdd BLAST240

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Defects in Edar are a cause of the downless phenotype in mice (the equivalent of anhidrotic ectodermal dysplasia in humans). The disease is characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands.

Keywords - Diseasei

Disease mutation

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 26Sequence analysisAdd BLAST26
ChainiPRO_000003460927 – 448Tumor necrosis factor receptor superfamily member EDARAdd BLAST422

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi31 ↔ 44By similarity
Glycosylationi38N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi47 ↔ 60By similarity
Disulfide bondi50 ↔ 71By similarity
Disulfide bondi74 ↔ 87By similarity
Disulfide bondi93 ↔ 113By similarity
Disulfide bondi135 ↔ 148Sequence analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9R187
PRIDEiQ9R187

PTM databases

iPTMnetiQ9R187
PhosphoSitePlusiQ9R187

Expressioni

Developmental stagei

Transcripts are not detectable in the branchial arch epithelium before morphological tooth formation (E10), but are highly expressed during the initiation of tooth development (E11). Starting E12 expression is high and limited to the budding cells, and remains high in the fully developed enamel knot at E14, whereas all other dental cells were completely negative. During E15 the enamel knot disappears largely through apoptosis, and no transcripts were detected in the tooth germs of newborns. In skin, uniformly distributed in the basal cells of the epidermis before follicle initiation. Expression becomes focally elevated before placodes become distinguishable. By E17 transcripts are almost exclusively confined to maturing follicles and the recently initiated placodes.

Inductioni

By activin A in E12 dental epithelium.1 Publication

Gene expression databases

BgeeiENSMUSG00000003227
CleanExiMM_EDAR
GenevisibleiQ9R187 MM

Interactioni

Subunit structurei

Binds to EDARADD. Associates with TRAF1, TRAF2, TRAF3 and NIK.

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000003312

Structurei

3D structure databases

ProteinModelPortaliQ9R187
SMRiQ9R187
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati30 – 71TNFR-Cys 1Add BLAST42
Repeati73 – 113TNFR-Cys 2Add BLAST41
Repeati115 – 150TNFR-Cys 3Add BLAST36
Domaini358 – 431DeathAdd BLAST74

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IGTD Eukaryota
ENOG41104RU LUCA
GeneTreeiENSGT00730000111254
HOGENOMiHOG000112327
HOVERGENiHBG031530
InParanoidiQ9R187
KOiK05162
OMAiGYQICRR
OrthoDBiEOG091G0ADI
PhylomeDBiQ9R187
TreeFamiTF331385

Family and domain databases

CDDicd13421 TNFRSF_EDAR, 1 hit
InterProiView protein in InterPro
IPR011029 DEATH-like_dom_sf
IPR034052 EDAR_N
SUPFAMiSSF47986 SSF47986, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q9R187-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAHVGDCKWM SWLPVLVVSL MCSAKAEDSN CGENEYHNQT TGLCQQCPPC
60 70 80 90 100
RPGEEPYMSC GYGTKDDDYG CVPCPAEKFS KGGYQICRRH KDCEGFFRAT
110 120 130 140 150
VLTPGDMEND AECGPCLPGY YMLENRPRNI YGMVCYSCLL APPNTKECVG
160 170 180 190 200
ATSGVSAHSS STSGGSTLSP FQHAHKELSG QGHLATALII AMSTIFIMAI
210 220 230 240 250
AIVLIIMFYI MKTKPSAPAC CSSPPGKSAE APANTHEEKK EAPDSVVTFP
260 270 280 290 300
ENGEFQKLTA TPTKTPKSEN DASSENEQLL SRSVDSDEEP APDKQGSPEL
310 320 330 340 350
CLLSLVHLAR EKSVTSNKSA GIQSRRKKIL DVYANVCGVV EGLSPTELPF
360 370 380 390 400
DCLEKTSRML SSTYNSEKAV VKTWRHLAES FGLKRDEIGG MTDGMQLFDR
410 420 430 440
ISTAGYSIPE LLTKLVQIER LDAVESLCAD ILEWAGVVPP ASPPPAAS
Length:448
Mass (Da):48,434
Last modified:May 1, 2000 - v1
Checksum:iFCCAF38F3D6BB971
GO

Sequence cautioni

The sequence BAB23385 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural varianti379E → K in recessive downless Jackson. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF160502 mRNA Translation: AAD50425.1
AK004576 mRNA Translation: BAB23385.1 Different initiation.
CCDSiCCDS23862.1
RefSeqiNP_034230.1, NM_010100.3
UniGeneiMm.174523

Genome annotation databases

EnsembliENSMUST00000003312; ENSMUSP00000003312; ENSMUSG00000003227
GeneIDi13608
KEGGimmu:13608
UCSCiuc007fdh.2 mouse

Similar proteinsi

Entry informationi

Entry nameiEDAR_MOUSE
AccessioniPrimary (citable) accession number: Q9R187
Secondary accession number(s): Q9DC43
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 27, 2002
Last sequence update: May 1, 2000
Last modified: May 23, 2018
This is version 121 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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