Ectodysplasin A

Ectodysplasin A
PDB rendering based on 1rj7.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 1RJ7​, 1RJ8​
Identifiers
Symbols	EDA ; ECTD1; ED1; ED1-A1; ED1-A2; EDA-A1; EDA-A2; EDA1; EDA2; HED; HED1; ODT1; STHAGX1; XHED; XLHED
External IDs	OMIM: 300451 MGI: 1195272 HomoloGene: 68180 GeneCards: EDA Gene
Gene ontology Molecular function • receptor binding • tumor necrosis factor receptor binding • protein binding Cellular component • extracellular region • collagen trimer • endoplasmic reticulum membrane • cytoskeleton • plasma membrane • integral component of plasma membrane • membrane • integral component of membrane • intracellular membrane-bounded organelle • apical part of cell Biological process • immune response • cell-matrix adhesion • signal transduction • ectoderm development • gene expression • cell differentiation • positive regulation of NF-kappaB import into nucleus • odontogenesis of dentin-containing tooth • pigmentation • positive regulation of NF-kappaB transcription factor activity • salivary gland cavitation • hair follicle placode formation • trachea gland development • positive regulation of canonical Wnt signaling pathway Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1896	13607
Ensembl	ENSG00000158813	ENSMUSG00000059327
UniProt	Q92838	O54693
RefSeq (mRNA)	NM_001005609	NM_001177937
RefSeq (protein)	NP_001005609	NP_001171408
Location (UCSC)	Chr X: 69.62 – 70.04 Mb	Chr X: 99.98 – 100.4 Mb
PubMed search

Ectodysplasin A (EDA) is a protein that in humans is encoded by the EDA gene.

Ectodysplasin A is a transmembrane protein of the TNF family which plays an important role in the development of ectodermal tissues such as the skin in humans.^[1][2] It is recognized by the ectodysplasin A receptor.

Function

The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene.^[2]

References

1. Kere J, Srivastava AK, Montonen O, Zonana J, Thomas N, Ferguson B, Munoz F, Morgan D, Clarke A, Baybayan P, Chen EY, Ezer S, Saarialho-Kere U, de la Chapelle A, Schlessinger D (Sep 1996). "X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein". Nat Genet 13 (4): 409–16. doi:10.1038/ng0895-409. PMID 8696334.
2. "Entrez Gene: EDA ectodysplasin A".

Further reading

• Cui CY, Schlessinger D (2007). "EDA signaling and skin appendage development.". Cell Cycle 5 (21): 2477–83. doi:10.4161/cc.5.21.3403. PMC 2860309. PMID 17102627.
• Srivastava AK, Montonen O, Saarialho-Kere U, Chen E, Baybayan P, Pispa J, Limon J, Schlessinger D, Kere J (1996). "Fine mapping of the EDA gene: a translocation breakpoint is associated with a CpG island that is transcribed". Am. J. Hum. Genet. 58 (1): 126–32. PMC 1914968. PMID 8554048.
• Montonen O, Ezer S, Saarialho-Kere UK, Herva R, Karjalainen-Lindsberg ML, Kaitila I, Schlessinger D, Srivastava AK, Thesleff I, Kere J (1998). "The gene defective in anhidrotic ectodermal dysplasia is expressed in the developing epithelium, neuroectoderm, thymus, and bone". J. Histochem. Cytochem. 46 (3): 281–9. doi:10.1177/002215549804600301. PMID 9487109.
• Ferguson BM, Thomas NS, Munoz F, Morgan D, Clarke A, Zonana J (1998). "Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications". J. Med. Genet. 35 (2): 112–5. doi:10.1136/jmg.35.2.112. PMC 1051213. PMID 9507389.
• Hertz JM, Nørgaard Hansen K, Juncker I, Kjeldsen M, Gregersen N (1998). "A novel missense mutation (402C-->T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia". Clin. Genet. 53 (3): 205–9. doi:10.1111/j.1399-0004.1998.tb02678.x. PMID 9630076.
• Monreal AW, Zonana J, Ferguson B (1998). "Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations". Am. J. Hum. Genet. 63 (2): 380–9. doi:10.1086/301984. PMC 1377324. PMID 9683615.
• Bayés M, Hartung AJ, Ezer S, Pispa J, Thesleff I, Srivastava AK, Kere J (1998). "The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats". Hum. Mol. Genet. 7 (11): 1661–9. doi:10.1093/hmg/7.11.1661. PMID 9736768.
• Martínez F, Millán JM, Orellana C, Prieto F (1999). "X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene: 406T > G (Leu55Arg)". J. Invest. Dermatol. 113 (2): 285–6. doi:10.1046/j.1523-1747.1999.00656.x. PMID 10469321.
• Ezer S, Bayés M, Elomaa O, Schlessinger D, Kere J (1999). "Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells". Hum. Mol. Genet. 8 (11): 2079–86. doi:10.1093/hmg/8.11.2079. PMID 10484778.
• Yan M, Wang LC, Hymowitz SG, Schilbach S, Lee J, Goddard A, de Vos AM, Gao WQ, Dixit VM (2000). "Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors". Science 290 (5491): 523–7. doi:10.1126/science.290.5491.523. PMID 11039935.
• Drögemüller C, Distl O, Leeb T (2001). "Identification of a highly polymorphic microsatellite within the bovine ectodysplasin A (ED1) gene on BTA Xq22-24". Anim. Genet. 31 (6): 416. doi:10.1046/j.1365-2052.2000.00693.x. PMID 11167539.
• Elomaa O, Pulkkinen K, Hannelius U, Mikkola M, Saarialho-Kere U, Kere J (2001). "Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein". Hum. Mol. Genet. 10 (9): 953–62. doi:10.1093/hmg/10.9.953. PMID 11309369.
• Vincent MC, Biancalana V, Ginisty D, Mandel JL, Calvas P (2001). "Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia". Eur. J. Hum. Genet. 9 (5): 355–63. doi:10.1038/sj.ejhg.5200635. PMID 11378824.
• Chen Y, Molloy SS, Thomas L, Gambee J, Bächinger HP, Ferguson B, Zonana J, Thomas G, Morris NP (2001). "Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia". Proc. Natl. Acad. Sci. U.S.A. 98 (13): 7218–23. doi:10.1073/pnas.131076098. PMC 34649. PMID 11416205.
• Sinha SK, Zachariah S, Quiñones HI, Shindo M, Chaudhary PM (2003). "Role of TRAF3 and -6 in the activation of the NF-kappa B and JNK pathways by X-linked ectodermal dysplasia receptor". J. Biol. Chem. 277 (47): 44953–61. doi:10.1074/jbc.M207923200. PMID 12270937.
• Kobielak A, Kobielak K, Biedziak B, Trzeciak WH (2003). "A novel mutation A1270G of the EDA1 gene causing Tyr343Cys substitution in ectodysplasin-A in a family with anhidrotic ectodermal dysplasia". Acta Biochim. Pol. 50 (1): 255–8. PMID 12673367.
• Zhang XJ, Chen JJ, Song YX, Yang S, Xiong XY, Zhang AP, He PP, Gao M, Li YB, Lin D, Huang W (2004). "Mutation analysis of the ED1 gene in two Chinese Han families with X-linked hypohidrotic ectodermal dysplasia". Arch. Dermatol. Res. 295 (1): 38–42. doi:10.1007/s00403-003-0394-7 (inactive 2015-01-01). PMID 12682853.
• Nishibu A, Hashiguchi T, Yotsumoto S, Takahashi M, Nakamura K, Kanzaki T, Kaneko F (2004). "A frameshift mutation of the ED1 gene in sibling cases with X-linked hypohidrotic ectodermal dysplasia". Dermatology (Basel) 207 (2): 178–81. doi:10.1159/000071790. PMID 12920369.

External links

• GeneReview/NIH/UW entry on Hypohidrotic Ectodermal Dysplasia