EDARADD

Ectodysplasin-A receptor-associated adapter protein is a protein that in humans is encoded by the EDARADD gene.[5][6]

EDARADD
Identifiers
AliasesEDARADD, ECTD11A, ECTD11B, ED3, EDA3, EDAR-associated death domain, EDAR associated death domain
External IDsOMIM: 606603 MGI: 1931001 HomoloGene: 15430 GeneCards: EDARADD
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1q42.3-q43Start236,348,257 bp[1]
End236,502,915 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

128178

171211

Ensembl

ENSG00000186197

ENSMUSG00000095105

UniProt

Q8WWZ3

Q8VHX2
Q5D0F1

RefSeq (mRNA)

NM_145861
NM_080738

NM_133643

RefSeq (protein)

NP_542776
NP_665860

NP_598398

Location (UCSC)Chr 1: 236.35 – 236.5 MbChr 13: 12.47 – 12.52 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

This gene was identified by its association with ectodermal dysplasia, and specifically with hypohidrotic ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported.[6]

Interactions

EDARADD has been shown to interact with TRAF2.[7]

References
  1. GRCh38: Ensembl release 89: ENSG00000186197 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000095105 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Headon DJ, Emmal SA, Ferguson BM, Tucker AS, Justice MJ, Sharpe PT, Zonana J, Overbeek PA (Jan 2002). "Gene defect in ectodermal dysplasia implicates a death domain adapter in development". Nature. 414 (6866): 913–6. doi:10.1038/414913a. PMID 11780064.
  6. "Entrez Gene: EDARADD EDAR-associated death domain".
  7. Yan M, Zhang Z, Brady JR, Schilbach S, Fairbrother WJ, Dixit VM (March 2002). "Identification of a novel death domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice". Current Biology. 12 (5): 409–13. doi:10.1016/S0960-9822(02)00687-5. PMID 11882293.

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.