DISEASES

Disease-gene associations mined from literature

Literature on WDR48

WDR48 [ENSP00000307491]

WD repeat-containing protein 48; Regulator of deubiquitinating complexes. Acts as a strong activator of USP1 and USP46 (PubMed:18082604, PubMed:19075014, PubMed:26388029). 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 (PubMed:19075014, PubMed:27373336). 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 . ECO:0000269|PubMed:18032488, ECO:0000269|PubMed:18082604, ECO:0000269|PubMed:19075014, ECO:0000269|PubMed:24145035, ECO:0000269|PubMed:26388029, ECO:0000269|PubMed:27373336,; Belongs to the WD repeat WDR48 family.

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

Linkouts:  STRING  Pharos  UniProt  OMIM