DISEASES

Disease-gene associations mined from literature

Literature associating WDR48 and karyomegalic interstitial nephritis

WDR48 [ENSP00000307491]

WD repeat-containing protein 48; Regulator of deubiquitinating complexes. Acts as a strong activator of USP1 and USP46. Enhances the USP1-mediated deubiquitination of FANCD2; USP1 being almost inactive by itself. Also activates deubiquitinating activity of complexes containing USP12. Docks at the distal end of the USP12 fingers domain and induces a cascade of structural changes leading to the activation of the enzyme. Activates deubiquitination by increasing the catalytic turnover without increasing the affinity of deubiquitinating enzymes for the substrate. In complex with USP12, acts as a potential tumor suppressor by positively regulating PHLPP1 stability. In case of infection by Herpesvirus saimiri, may play a role in vesicular transport or membrane fusion events necessary for transport to lysosomes. Induces lysosomal vesicle formation via interaction with Herpesvirus saimiri tyrosine kinase-interacting protein (TIP). Subsequently, TIP recruits tyrosine-protein kinase LCK, resulting in down-regulation of T-cell antigen receptor TCR. May play a role in generation of enlarged endosomal vesicles via interaction with TIP. In case of infection by papillomavirus HPV11, promotes the maintenance of the viral genome via its interaction with HPV11 helicase E1; Belongs to the WD repeat WDR48 family.

Synonyms:  WDR48,  WDR48p,  hWDR48,  A0A024R2L1,  C9JC24 ...

Linkouts:  STRING  Pharos  UniProt  OMIM