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Protein

Tumor necrosis factor receptor superfamily member EDAR

Gene

Edar

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 NF-kappaB import into nucleus Source: MGI
  • salivary gland cavitation Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Receptor

Keywords - Biological processi

Apoptosis, 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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 10

Organism-specific databases

MGIiMGI:1343498. Edar.

Subcellular locationi

Topology

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

GO - Cellular componenti

  • apical part of cell Source: MGI
  • integral component of membrane Source: UniProtKB-KW
  • plasma membrane Source: MGI
Complete GO annotation...

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...)Sequence 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

Sequence similaritiesi

Contains 1 death domain.Curated
Contains 3 TNFR-Cys repeats.Curated

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

Gene3Di1.10.533.10. 1 hit.
InterProiIPR011029. DEATH-like_dom.
[Graphical view]
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.

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9R187.
SMRiQ9R187.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000003312.

PTM databases

iPTMnetiQ9R187.
PhosphoSitePlusiQ9R187.

Proteomic databases

PaxDbiQ9R187.
PRIDEiQ9R187.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi10913.
MGIiMGI:1343498. Edar.

Phylogenomic databases

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

Enzyme and pathway databases

ReactomeiR-MMU-5669034. TNFs bind their physiological receptors.

Miscellaneous databases

PROiQ9R187.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000003227.
CleanExiMM_EDAR.
GenevisibleiQ9R187. MM.

Family and domain databases

Gene3Di1.10.533.10. 1 hit.
InterProiIPR011029. DEATH-like_dom.
[Graphical view]
SUPFAMiSSF47986. SSF47986. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiEDAR_MOUSE
AccessioniPrimary (citable) accession number: Q9R187
Secondary accession number(s): Q9DC43
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 27, 2002
Last sequence update: May 1, 2000
Last modified: November 2, 2016
This is version 113 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.