InterPro domain: IPR027307
General Information
- Identifier IPR027307
- Description WASH complex subunit 7
- Number of genes 23
- Gene duplication stats Loading...
- Associated GO terms GO:0071203
Abstract
The WASH (WASP and Scar homologue) complex is present at the surface of endosomes and recruits and activates the Arp2/3 complex to induce mediated actin nucleation. The WASH complex plays a key role in the fission of tubules that serve as transport intermediates during endosome sorting [ 1 ].
The WASH complex consists of several subunits: F-actin-capping protein subunit alpha (CAPZA1, CAPZA2 or CAPZA3), F-actin-capping protein subunit beta (CAPZB), WASH (WASH1, WASH2P, WASH3P, WASH4P, WASH5P or WASH6P), FAM21 (FAM21A, FAM21B or FAM21C), KIAA1033, KIAA0196 (strumpellin) and CCDC53.
This entry represents the WASH complex subunit SWIP (strumpellin and WASH-interacting protein; also known as subunit 4 or subunit 7 or KIAA1033). SWIP is a candidate gene for non-syndromic autosomal recessive intellectual disability [ 2 ].
1. The Arp2/3 activator WASH controls the fission of endosomes through a large multiprotein complex. Dev. Cell 17, 712-23
2. Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. Hum. Mol. Genet. 20, 2585-90