Aliases for WDR48 Gene
External Ids for WDR48 Gene
Previous GeneCards Identifiers for WDR48 Gene
GeneCards Summary for WDR48 Gene
WDR48 (WD Repeat Domain 48) is a Protein Coding gene. Diseases associated with WDR48 include autosomal recessive spastic paraplegia type 60 and fanconi anemia, complementation group a. Among its related pathways are Fanconi anemia pathway.
UniProtKB/Swiss-Prot for WDR48 Gene
Regulator of deubiquitinating complexes. Acts as a strong activator of USP1 by enhancing the USP1-mediated deubiquitination of FANCD2; USP1 being almost inactive by itself. Also activates deubiquitinating activity of complexes containing USP12 and USP46, respectively. Activates deubiquitination by increasing the catalytic turnover without increasing the affinity of deubiquitinating enzymes for the substrate. 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.