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UniProtKB - Q9UNE0 (EDAR_HUMAN)

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Protein

Tumor necrosis factor receptor superfamily member EDAR

Gene

EDAR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

  • transmembrane signaling receptor activity Source: HGNC
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDevelopmental protein, Receptor
Biological processApoptosis, Differentiation

Enzyme and pathway databases

ReactomeiR-HSA-5669034 TNFs bind their physiological receptors
SIGNORiQ9UNE0

Names & Taxonomyi

Protein namesi
Recommended name:
Tumor necrosis factor receptor superfamily member EDAR
Alternative name(s):
Anhidrotic ectodysplasin receptor 1
Downless homolog
EDA-A1 receptor
Ectodermal dysplasia receptor
Ectodysplasin-A receptor
Gene namesi
Name:EDAR
Synonyms:DL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000135960.9
HGNCiHGNC:2895 EDAR
MIMi604095 gene
neXtProtiNX_Q9UNE0

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

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant (ECTD10A)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:129490
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:224900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05444447C → Y in ECTD10B. 1 PublicationCorresponds to variant dbSNP:rs778903951Ensembl.1
Natural variantiVAR_01344887C → R in ECTD10B. 1 PublicationCorresponds to variant dbSNP:rs121908451EnsemblClinVar.1
Natural variantiVAR_01344989R → H in ECTD10B. 4 PublicationsCorresponds to variant dbSNP:rs121908450EnsemblClinVar.1
Natural variantiVAR_06483098R → Q in ECTD10B. 1 PublicationCorresponds to variant dbSNP:rs144473052Ensembl.1
Natural variantiVAR_054445110D → A in ECTD10B. 2 PublicationsCorresponds to variant dbSNP:rs121908455EnsemblClinVar.1
Natural variantiVAR_054446148C → R in ECTD10B. 1 Publication1
Natural variantiVAR_064831358R → Q in ECTD10B. 2 PublicationsCorresponds to variant dbSNP:rs886039564EnsemblClinVar.1
Natural variantiVAR_054447375R → H in ECTD10B; the mutant protein does not interact with EDARADD and is functionally inactive. 1 PublicationCorresponds to variant dbSNP:rs121908454EnsemblClinVar.1
Natural variantiVAR_054448377L → F in ECTD10B. 1 Publication1
Natural variantiVAR_054449382G → S in ECTD10B. 1 PublicationCorresponds to variant dbSNP:rs747806672EnsemblClinVar.1
Natural variantiVAR_064832396Q → QQ in ECTD10B. 1 Publication1
Natural variantiVAR_054450403T → M in ECTD10B. 2 Publications1
Natural variantiVAR_064833408I → F in ECTD10B. 1 Publication1
Natural variantiVAR_054451413T → P in ECTD10B. 1 Publication1
Natural variantiVAR_054452418I → T in ECTD10B. 1 Publication1
Natural variantiVAR_054453434W → C in ECTD10B. 1 PublicationCorresponds to variant dbSNP:rs528478080Ensembl.1
Natural variantiVAR_064834434W → R in ECTD10B. 1 PublicationCorresponds to variant dbSNP:rs773885029Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi379E → K: Reduces activation of NF-kappa-B. 1 Publication1

Keywords - Diseasei

Disease mutation, Ectodermal dysplasia

Organism-specific databases

DisGeNETi10913
GeneReviewsiEDAR
MalaCardsiEDAR
MIMi129490 phenotype
224900 phenotype
612630 phenotype
OpenTargetsiENSG00000135960
Orphaneti1810 Autosomal dominant hypohidrotic ectodermal dysplasia
248 Autosomal recessive hypohidrotic ectodermal dysplasia
PharmGKBiPA27602

Chemistry databases

ChEMBLiCHEMBL1250376

Polymorphism and mutation databases

BioMutaiEDAR
DMDMi21263572

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 261 PublicationAdd BLAST26
ChainiPRO_000003460827 – 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 ↔ 148By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9UNE0
PeptideAtlasiQ9UNE0
PRIDEiQ9UNE0
ProteomicsDBi85279

PTM databases

iPTMnetiQ9UNE0
PhosphoSitePlusiQ9UNE0

Expressioni

Tissue specificityi

Detected in fetal kidney, lung, skin and cultured neonatal epidermal keratinocytes. Not detected in lymphoblast and fibroblast cell lines.

Developmental stagei

Found in craniofacial tissues from embryonic day 42-53. Expressed in fetal skin 11 and 15 weeks after gestation.

Gene expression databases

BgeeiENSG00000135960
CleanExiHS_EDAR
GenevisibleiQ9UNE0 HS

Organism-specific databases

HPAiHPA042292

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi116118, 7 interactors
IntActiQ9UNE0, 8 interactors
STRINGi9606.ENSP00000258443

Structurei

3D structure databases

ProteinModelPortaliQ9UNE0
SMRiQ9UNE0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati30 – 71TNFR-Cys 1Add BLAST42
Repeati73 – 113TNFR-Cys 2Add BLAST41
Repeati115 – 148TNFR-Cys 3Add BLAST34
Domaini358 – 431DeathAdd BLAST74

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IGTD Eukaryota
ENOG41104RU LUCA
GeneTreeiENSGT00730000111254
HOGENOMiHOG000112327
HOVERGENiHBG031530
InParanoidiQ9UNE0
KOiK05162
OMAiGYQICRR
OrthoDBiEOG091G0ADI
PhylomeDBiQ9UNE0
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

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UNE0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAHVGDCTQT PWLPVLVVSL MCSARAEYSN CGENEYYNQT TGLCQECPPC 
        60         70         80         90        100
GPGEEPYLSC GYGTKDEDYG CVPCPAEKFS KGGYQICRRH KDCEGFFRAT 
       110        120        130        140        150
VLTPGDMEND AECGPCLPGY YMLENRPRNI YGMVCYSCLL APPNTKECVG 
       160        170        180        190        200
ATSGASANFP GTSGSSTLSP FQHAHKELSG QGHLATALII AMSTIFIMAI 
       210        220        230        240        250
AIVLIIMFYI LKTKPSAPAC CTSHPGKSVE AQVSKDEEKK EAPDNVVMFS 
       260        270        280        290        300
EKDEFEKLTA TPAKPTKSEN DASSENEQLL SRSVDSDEEP APDKQGSPEL 
       310        320        330        340        350
CLLSLVHLAR EKSATSNKSA GIQSRRKKIL DVYANVCGVV EGLSPTELPF 
       360        370        380        390        400
DCLEKTSRML SSTYNSEKAV VKTWRHLAES FGLKRDEIGG MTDGMQLFDR 
       410        420        430        440 
ISTAGYSIPE LLTKLVQIER LDAVESLCAD ILEWAGVVPP ASQPHAAS
Length:448
Mass (Da):48,582
Last modified:May 1, 2000 - v1
Checksum:iAC8D61249D608439
GO
Isoform 2 (identifier: Q9UNE0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     219-219: A → GDGPHAPVPCFLDSPSTPPVGEPGCSLPPLSPA

Note: No experimental confirmation available.Curated
Show »
Length:480
Mass (Da):51,690
Checksum:i4262977A6EAE8D2A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti156S → P in BAG36519 (PubMed:14702039).Curated1
Sequence conflicti262P → S in AAD50077 (PubMed:10431241).Curated1
Isoform 2 (identifier: Q9UNE0-2)
Sequence conflicti229F → L in BAG59487 (PubMed:14702039).Curated1

Polymorphismi

Genetic variation in EDAR is associated with variations in head hair thickness and defines the hair morphology locus 1 (HRM1) [MIMi: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.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05444447C → Y in ECTD10B. 1 PublicationCorresponds to variant dbSNP:rs778903951Ensembl.1
Natural variantiVAR_01344887C → R in ECTD10B. 1 PublicationCorresponds to variant dbSNP:rs121908451EnsemblClinVar.1
Natural variantiVAR_01344989R → H in ECTD10B. 4 PublicationsCorresponds to variant dbSNP:rs121908450EnsemblClinVar.1
Natural variantiVAR_06483098R → Q in ECTD10B. 1 PublicationCorresponds to variant dbSNP:rs144473052Ensembl.1
Natural variantiVAR_054445110D → A in ECTD10B. 2 PublicationsCorresponds to variant dbSNP:rs121908455EnsemblClinVar.1
Natural variantiVAR_054446148C → R in ECTD10B. 1 Publication1
Natural variantiVAR_064831358R → Q in ECTD10B. 2 PublicationsCorresponds to variant dbSNP:rs886039564EnsemblClinVar.1
Natural variantiVAR_020011370V → A Associated with increase in hair thickness; results in decreased downstream activity of NFKB1 48 hours after transfection into cells. 3 PublicationsCorresponds to variant dbSNP:rs3827760EnsemblClinVar.1
Natural variantiVAR_077562370V → L1 Publication1
Natural variantiVAR_054447375R → H in ECTD10B; the mutant protein does not interact with EDARADD and is functionally inactive. 1 PublicationCorresponds to variant dbSNP:rs121908454EnsemblClinVar.1
Natural variantiVAR_054448377L → F in ECTD10B. 1 Publication1
Natural variantiVAR_054449382G → S in ECTD10B. 1 PublicationCorresponds to variant dbSNP:rs747806672EnsemblClinVar.1
Natural variantiVAR_064832396Q → QQ in ECTD10B. 1 Publication1
Natural variantiVAR_054450403T → M in ECTD10B. 2 Publications1
Natural variantiVAR_064833408I → F in ECTD10B. 1 Publication1
Natural variantiVAR_054451413T → P in ECTD10B. 1 Publication1
Natural variantiVAR_054452418I → T in ECTD10B. 1 Publication1
Natural variantiVAR_013450420R → Q in ECTD10A and ECTD10B; abolishes NF-kappa-B activation and reduces JNK activation. 6 PublicationsCorresponds to variant dbSNP:rs121908453EnsemblClinVar.1
Natural variantiVAR_054453434W → C in ECTD10B. 1 PublicationCorresponds to variant dbSNP:rs528478080Ensembl.1
Natural variantiVAR_064834434W → R in ECTD10B. 1 PublicationCorresponds to variant dbSNP:rs773885029Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_054187219A → GDGPHAPVPCFLDSPSTPPV GEPGCSLPPLSPA in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF130988 mRNA Translation: AAD50076.1
AF130996
, AF130990, AF130991, AF130992, AF130993, AF130994, AF130995 Genomic DNA Translation: AAD50077.1
AK296936 mRNA Translation: BAG59487.1
AK313781 mRNA Translation: BAG36519.1
AC073415 Genomic DNA No translation available.
AC092160 Genomic DNA No translation available.
AC133784 Genomic DNA No translation available.
CH471182 Genomic DNA Translation: EAW53869.1
BC093870 mRNA Translation: AAH93870.1
BC093872 mRNA Translation: AAH93872.1
CCDSiCCDS2081.1 [Q9UNE0-1]
RefSeqiNP_071731.1, NM_022336.3 [Q9UNE0-1]
XP_006712267.1, XM_006712204.1 [Q9UNE0-2]
UniGeneiHs.171971

Genome annotation databases

EnsembliENST00000258443; ENSP00000258443; ENSG00000135960 [Q9UNE0-1]
ENST00000376651; ENSP00000365839; ENSG00000135960 [Q9UNE0-2]
ENST00000409271; ENSP00000386371; ENSG00000135960 [Q9UNE0-2]
GeneIDi10913
KEGGihsa:10913
UCSCiuc002teq.4 human [Q9UNE0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiEDAR_HUMAN
AccessioniPrimary (citable) accession number: Q9UNE0
Secondary accession number(s): B2R9H2
, B4DLC5, D3DX74, E9PC98, Q52LL5, Q9UND9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 27, 2002
Last sequence update: May 1, 2000
Last modified: July 18, 2018
This is version 151 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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