Ectodysplasin A

EDA
Available structures
PDB	Human UniProt search: PDBe RCSB
List of PDB id codes
	1RJ7, 1RJ8
Identifiers
Aliases	EDA, ECTD1, ED1, ED1-A1, ED1-A2, EDA-A1, EDA-A2, EDA1, EDA2, HED, HED1, ODT1, STHAGX1, XHED, XLHED, TNLG7C, ectodysplasin A
External IDs	OMIM: 300451 GeneCards: EDA
Gene location (Human)
Chr.	X chromosome (human)[1]
End	70,039,472 bp[1]
RNA expression pattern
	More reference expression data
Gene ontology
Molecular function	• GO:0001948 protein binding; • tumor necrosis factor receptor binding; • receptor binding; • death receptor agonist activity; • death receptor binding;
Cellular component	• integral component of membrane; • collagen; • endoplasmic reticulum membrane; • membrane; • cell membrane; • apical part of cell; • integral component of plasma membrane; • extracellular region; • cytoskeleton; • lipid droplet; • intracellular membrane-bounded organelle;
Biological process	• trachea gland development; • hair follicle placode formation; • hair follicle development; • cell differentiation; • gene expression; • positive regulation of canonical Wnt signaling pathway; • salivary gland cavitation; • tumor necrosis factor-mediated signaling pathway; • multicellular organism development; • positive regulation of gene expression; • positive regulation of NF-kappaB transcription factor activity; • immune response; • positive regulation of I-kappaB kinase/NF-kappaB signaling; • pigmentation; • cell-matrix adhesion; • skin development; • cytokine-mediated signaling pathway; • regulation of NIK/NF-kappaB signaling; • odontogenesis of dentin-containing tooth; • regulation of receptor activity; • positive regulation of NIK/NF-kappaB signaling;
	Sources:Amigo / QuickGO
Orthologs
	1896
	n/a
	ENSG00000158813
	n/a
	Q92838
	n/a
NM_001005609; NM_001005610; NM_001005611; NM_001005612; NM_001005613;
	NM_001005614; NM_001399
	n/a
	NP_001005609; NP_001005610; NP_001005612; NP_001005613; NP_001390
	n/a
	Wikidata
View/Edit Human

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 skin in humans.[3][4] 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. Along with c-Met, it has been shown to be involved in the differentiation of anatomical placodes, precursors of scales, feathers and hair follicles in vertebrates.[5] 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.[4]

References

GRCh38: Ensembl release 89: ENSG00000158813 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
"Entrez Gene: EDA ectodysplasin A".
Barrow-McGee R, Kishi N, Joffre C, Ménard L, Hervieu A, Bakhouche BA, et al. (2016). "Beta 1-integrin-c-Met cooperation reveals an inside-in survival signalling on autophagy-related endomembranes". Nature Communications. 7: 11942. Bibcode:2016NatCo...711942B. doi:10.1038/ncomms11942. PMC 4931016. PMID 27336951.

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. Bibcode:2000Sci...290..523Y. 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. Bibcode:2001PNAS...98.7218C. 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. 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. 207 (2): 178–81. doi:10.1159/000071790. PMID 12920369.

External links

GeneReview/NIH/UW entry on Hypohidrotic Ectodermal Dysplasia

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000158813 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8696334-3] 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.

[entrez-4] "Entrez Gene: EDA ectodysplasin A".

[pmid27336951-5] Barrow-McGee R, Kishi N, Joffre C, Ménard L, Hervieu A, Bakhouche BA, et al. (2016). "Beta 1-integrin-c-Met cooperation reveals an inside-in survival signalling on autophagy-related endomembranes". Nature Communications. 7: 11942. Bibcode:2016NatCo...711942B. doi:10.1038/ncomms11942. PMC 4931016. PMID 27336951.

Ectodysplasin A

Function

References

Further reading

External links