DISEASES

Disease-gene associations mined from literature

Literature associating WDR81 and Usher syndrome type 1

WDR81 [ENSP00000386609]

WD repeat-containing protein 81; Functions as a negative regulator of the PI3 kinase/PI3K activity associated with endosomal membranes via BECN1, a core subunit of the PI3K complex. By modifying the phosphatidylinositol 3- phosphate/PtdInsP3 content of endosomal membranes may regulate endosome fusion, recycling, sorting and early to late endosome transport . It is for instance, required for the delivery of cargos like BST2/tetherin from early to late endosome and thereby participates indirectly to their degradation by the lysosome . May also play a role in aggrephagy, the macroautophagic degradation of ubiquitinated protein aggregates. In this process, may regulate the interaction of SQSTM1 with ubiquitinated proteins and also recruit MAP1LC3C . May also be involved in maintenance of normal mitochondrial structure and organization (By similarity). ECO:0000269|PubMed:26783301, ECO:0000269|PubMed:27126989,

Synonyms:  WDR81,  WDR81p,  hWDR81,  C9JCF9,  C9JD20 ...

Linkouts:  STRING  Pharos  UniProt  OMIM