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Protein

Ectodysplasin-A receptor-associated adapter protein

Gene

EDARADD

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

Functioni

Adapter protein that interacts with EDAR DEATH domain and couples the receptor to EDA signaling pathway during morphogenesis of ectodermal organs. Mediates the activation of NF-kappa-B.1 Publication

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processDifferentiation

Enzyme and pathway databases

ReactomeiR-HSA-5669034 TNFs bind their physiological receptors

Names & Taxonomyi

Protein namesi
Recommended name:
Ectodysplasin-A receptor-associated adapter protein
Alternative name(s):
EDAR-associated death domain protein
Protein crinkled homolog
Gene namesi
Name:EDARADD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000186197.12
HGNCiHGNC:14341 EDARADD
MIMi606603 gene
neXtProtiNX_Q8WWZ3

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

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant (ECTD11A)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:614940
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064835114D → Y in ECTD11A. 1 Publication1
Natural variantiVAR_054510122L → R in ECTD11A; severely impairs NF-kappa-B activation and acted in a dominant-negative manner. 1 PublicationCorresponds to variant dbSNP:rs121908116Ensembl.1
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD11B)3 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:614941
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_064836135 – 136Missing in ECTD11B; impairs the interaction with EDAR and severely inhibits NF-kappa-B activity. 1 Publication2
Natural variantiVAR_013482152E → K in ECTD11B; may reduce binding to EDAR; impairs NF-kappa-B activation by about 50%. 2 PublicationsCorresponds to variant dbSNP:rs74315309Ensembl.1

Keywords - Diseasei

Disease mutation, Ectodermal dysplasia

Organism-specific databases

DisGeNETi128178
GeneReviewsiEDARADD
MalaCardsiEDARADD
MIMi614940 phenotype
614941 phenotype
OpenTargetsiENSG00000186197
Orphaneti1810 Autosomal dominant hypohidrotic ectodermal dysplasia
248 Autosomal recessive hypohidrotic ectodermal dysplasia
99798 Oligodontia
PharmGKBiPA27603

Polymorphism and mutation databases

BioMutaiEDARADD
DMDMi212276512

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000869281 – 215Ectodysplasin-A receptor-associated adapter proteinAdd BLAST215

Proteomic databases

MaxQBiQ8WWZ3
PaxDbiQ8WWZ3
PeptideAtlasiQ8WWZ3
PRIDEiQ8WWZ3
ProteomicsDBi74963
74964 [Q8WWZ3-2]

PTM databases

iPTMnetiQ8WWZ3
PhosphoSitePlusiQ8WWZ3

Expressioni

Tissue specificityi

Detected in adult pancreas, placenta and fetal skin, and at lower levels in lung, thymus, prostate and testis.

Gene expression databases

BgeeiENSG00000186197 Expressed in 69 organ(s), highest expression level in placenta
CleanExiHS_EDARADD
ExpressionAtlasiQ8WWZ3 baseline and differential
GenevisibleiQ8WWZ3 HS

Organism-specific databases

HPAiHPA018836

Interactioni

Subunit structurei

Self-associates and binds EDAR, TRAF1, TRAF2 and TRAF3.

Binary interactionsi

Protein-protein interaction databases

BioGridi126096, 13 interactors
IntActiQ8WWZ3, 12 interactors
STRINGi9606.ENSP00000335076

Structurei

3D structure databases

ProteinModelPortaliQ8WWZ3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini123 – 202DeathAdd BLAST80

Phylogenomic databases

eggNOGiENOG410IK26 Eukaryota
ENOG410XW8Y LUCA
GeneTreeiENSGT00390000001136
HOGENOMiHOG000013132
HOVERGENiHBG018567
InParanoidiQ8WWZ3
OMAiKYPVQDT
OrthoDBiEOG091G0K7N
PhylomeDBiQ8WWZ3
TreeFamiTF335658

Family and domain databases

InterProiView protein in InterPro
IPR011029 DEATH-like_dom_sf
IPR000488 Death_domain
IPR039200 EDARADD
PANTHERiPTHR28469 PTHR28469, 1 hit
PfamiView protein in Pfam
PF00531 Death, 1 hit
SUPFAMiSSF47986 SSF47986, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform A (identifier: Q8WWZ3-1) [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
MGLRTTKQMG RGTKAPGHQE DHMVKEPVED TDPSTLSFNM SDKYPIQDTE
60 70 80 90 100
LPKAEECDTI TLNCPRNSDM KNQGEENGFP DSTGDPLPEI SKDNSCKENC
110 120 130 140 150
TCSSCLLRAP TISDLLNDQD LLDVIRIKLD PCHPTVKNWR NFASKWGMSY
160 170 180 190 200
DELCFLEQRP QSPTLEFLLR NSQRTVGQLM ELCRLYHRAD VEKVLRRWVD
210
EEWPKRERGD PSRHF
Length:215
Mass (Da):24,802
Last modified:November 4, 2008 - v3
Checksum:i25C198E3CA1F68F2
GO
Isoform B (identifier: Q8WWZ3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-20: MGLRTTKQMGRGTKAPGHQE → MASPDDPLRA

Show »
Length:205
Mass (Da):23,690
Checksum:iA83CCC3E4F3115CF
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GV26A0A1B0GV26_HUMAN
Ectodysplasin-A receptor-associated...
EDARADD
193Annotation score:
B1AL55B1AL55_HUMAN
Ectodysplasin-A receptor-associated...
EDARADD
84Annotation score:
A0A2R8Y5E0A0A2R8Y5E0_HUMAN
Ectodysplasin-A receptor-associated...
EDARADD
82Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0509639M → I3 PublicationsCorresponds to variant dbSNP:rs966365EnsemblClinVar.1
Natural variantiVAR_054509103S → F1 PublicationCorresponds to variant dbSNP:rs114632254EnsemblClinVar.1
Natural variantiVAR_064835114D → Y in ECTD11A. 1 Publication1
Natural variantiVAR_054510122L → R in ECTD11A; severely impairs NF-kappa-B activation and acted in a dominant-negative manner. 1 PublicationCorresponds to variant dbSNP:rs121908116Ensembl.1
Natural variantiVAR_064836135 – 136Missing in ECTD11B; impairs the interaction with EDAR and severely inhibits NF-kappa-B activity. 1 Publication2
Natural variantiVAR_013482152E → K in ECTD11B; may reduce binding to EDAR; impairs NF-kappa-B activation by about 50%. 2 PublicationsCorresponds to variant dbSNP:rs74315309Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0038611 – 20MGLRT…PGHQE → MASPDDPLRA in isoform B. 3 PublicationsAdd BLAST20

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY028914 mRNA Translation: AAK40288.1
AY071862 mRNA Translation: AAL60590.1
AY028912
, AY028906, AY028908, AY028909, AY028910, AY028911 Genomic DNA Translation: AAK40285.1
AY028912
, AY028907, AY028908, AY028909, AY028910, AY028911 Genomic DNA Translation: AAK40286.1
AY028913 mRNA Translation: AAK40287.1
AK290862 mRNA Translation: BAF83551.1
AK291930 mRNA Translation: BAF84619.1
AK314634 mRNA Translation: BAG37197.1
AL354693 Genomic DNA No translation available.
AL136105 Genomic DNA No translation available.
CH471098 Genomic DNA Translation: EAW70052.1
BC128082 mRNA Translation: AAI28083.1
CCDSiCCDS1610.1 [Q8WWZ3-1]
CCDS31065.1 [Q8WWZ3-2]
RefSeqiNP_542776.1, NM_080738.3 [Q8WWZ3-2]
NP_665860.2, NM_145861.2 [Q8WWZ3-1]
UniGeneiHs.352224

Genome annotation databases

EnsembliENST00000334232; ENSP00000335076; ENSG00000186197 [Q8WWZ3-1]
ENST00000359362; ENSP00000352320; ENSG00000186197 [Q8WWZ3-2]
GeneIDi128178
KEGGihsa:128178
UCSCiuc001hxu.2 human [Q8WWZ3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY028914 mRNA Translation: AAK40288.1
AY071862 mRNA Translation: AAL60590.1
AY028912
, AY028906, AY028908, AY028909, AY028910, AY028911 Genomic DNA Translation: AAK40285.1
AY028912
, AY028907, AY028908, AY028909, AY028910, AY028911 Genomic DNA Translation: AAK40286.1
AY028913 mRNA Translation: AAK40287.1
AK290862 mRNA Translation: BAF83551.1
AK291930 mRNA Translation: BAF84619.1
AK314634 mRNA Translation: BAG37197.1
AL354693 Genomic DNA No translation available.
AL136105 Genomic DNA No translation available.
CH471098 Genomic DNA Translation: EAW70052.1
BC128082 mRNA Translation: AAI28083.1
CCDSiCCDS1610.1 [Q8WWZ3-1]
CCDS31065.1 [Q8WWZ3-2]
RefSeqiNP_542776.1, NM_080738.3 [Q8WWZ3-2]
NP_665860.2, NM_145861.2 [Q8WWZ3-1]
UniGeneiHs.352224

3D structure databases

ProteinModelPortaliQ8WWZ3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126096, 13 interactors
IntActiQ8WWZ3, 12 interactors
STRINGi9606.ENSP00000335076

PTM databases

iPTMnetiQ8WWZ3
PhosphoSitePlusiQ8WWZ3

Polymorphism and mutation databases

BioMutaiEDARADD
DMDMi212276512

Proteomic databases

MaxQBiQ8WWZ3
PaxDbiQ8WWZ3
PeptideAtlasiQ8WWZ3
PRIDEiQ8WWZ3
ProteomicsDBi74963
74964 [Q8WWZ3-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000334232; ENSP00000335076; ENSG00000186197 [Q8WWZ3-1]
ENST00000359362; ENSP00000352320; ENSG00000186197 [Q8WWZ3-2]
GeneIDi128178
KEGGihsa:128178
UCSCiuc001hxu.2 human [Q8WWZ3-1]

Organism-specific databases

CTDi128178
DisGeNETi128178
EuPathDBiHostDB:ENSG00000186197.12
GeneCardsiEDARADD
GeneReviewsiEDARADD
HGNCiHGNC:14341 EDARADD
HPAiHPA018836
MalaCardsiEDARADD
MIMi606603 gene
614940 phenotype
614941 phenotype
neXtProtiNX_Q8WWZ3
OpenTargetsiENSG00000186197
Orphaneti1810 Autosomal dominant hypohidrotic ectodermal dysplasia
248 Autosomal recessive hypohidrotic ectodermal dysplasia
99798 Oligodontia
PharmGKBiPA27603
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IK26 Eukaryota
ENOG410XW8Y LUCA
GeneTreeiENSGT00390000001136
HOGENOMiHOG000013132
HOVERGENiHBG018567
InParanoidiQ8WWZ3
OMAiKYPVQDT
OrthoDBiEOG091G0K7N
PhylomeDBiQ8WWZ3
TreeFamiTF335658

Enzyme and pathway databases

ReactomeiR-HSA-5669034 TNFs bind their physiological receptors

Miscellaneous databases

ChiTaRSiEDARADD human
GeneWikiiEDARADD
GenomeRNAii128178
PROiPR:Q8WWZ3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000186197 Expressed in 69 organ(s), highest expression level in placenta
CleanExiHS_EDARADD
ExpressionAtlasiQ8WWZ3 baseline and differential
GenevisibleiQ8WWZ3 HS

Family and domain databases

InterProiView protein in InterPro
IPR011029 DEATH-like_dom_sf
IPR000488 Death_domain
IPR039200 EDARADD
PANTHERiPTHR28469 PTHR28469, 1 hit
PfamiView protein in Pfam
PF00531 Death, 1 hit
SUPFAMiSSF47986 SSF47986, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiEDAD_HUMAN
AccessioniPrimary (citable) accession number: Q8WWZ3
Secondary accession number(s): A2VCK5
, A8K7B5, B1AL54, B9ZVW5, Q5VYJ7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 6, 2002
Last sequence update: November 4, 2008
Last modified: November 7, 2018
This is version 139 of the entry and version 3 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, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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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