Reactome | EDA binds EDAR

EDA binds EDAR

Stable Identifier

R-HSA-5669012

Type

Reaction [binding]

Species

Homo sapiens

Compartment

plasma membrane

ReviewStatus

5/5

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Ectodysplasin-A (EDA) is a trimeric type II membrane protein whose sequence includes an interrupted collagenous domain of 19 Gly-X-Y repeats and a motif conserved in the tumor necrosis factor (TNF)-related ligand family. EDA regulates ectodermal appendage formation by colocalising with cytoskeletal structures on cell surfaces (Ezer et al. 1999). Activation of the NF-kappaB pathway by the tumor necrosis factor receptor superfamily member EDAR (EDAR) and its downstream adaptator EDAR-associated death domain (EDARADD) is essential for the development of hair follicles, teeth, exocrine glands and other ectodermal structures. EDA isoform 1 specifically binds EDAR. Defects in EDA can cause X-linked hypohydrotic ectodermal dysplasia 1 (ECTD1), the most common of many distinct ectodermal dysplasias characterised by sparse hair, abnormal or missing teeth and the inability to sweat (Cluzeau et al. 2011, Sadier et al. 2014).

Literature References

PubMed ID	Title	Journal	Year
10484778	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 Bayés, M, Elomaa, O, Kere, J, Ezer, S, Schlessinger, D	Hum. Mol. Genet.	1999
14656435	The crystal structures of EDA-A1 and EDA-A2: splice variants with distinct receptor specificity Yan, M, Hymowitz, SG, Compaan, DM, Wallweber, HJ, de Vos, AM, Starovasnik, MA, Dixit, VM	Structure	2003
20979233	Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases Mansour, S, Munnich, A, Cluzeau, C, Bal, E, de Prost, Y, Le Merrer, M, Manière, MC, Vincent, MC, Amiel, J, Faivre, L, Toupenay, S, Bonnefont, JP, Viot, G, Lyonnet, S, Cormier-Daire, V, Clauss, F, Jambou, M, Chassaing, N, Guigue, P, Bodemer, C, Hadj-Rabia, S, Smahi, A, Masmoudi, S	Hum. Mutat.	2011
24070496	The ectodysplasin pathway: from diseases to adaptations Viriot, L, Pantalacci, S, Laudet, V, Sadier, A	Trends Genet.	2014