WDR48 is a WD40-repeat containing protein that regulates the activity of three human deubiquitinating enzymes: USP1, USP12 and USP46. The best characterized role of WDR48 is regulation of the DNA damage response in complex with USP1. The USP1\/WDR48 complex promotes deubiquitination of monoubiquitinated FANCD2 and monoubiquitinated PCNA, which are required in the regulation of translesion synthesis (TLS) and Fanconi anemia (FA) DNA repair pathways, respectively. In addition, in complex with USP12 and USP46, WDR48 regulates other important cellular processes such as synaptic transmission or signalling through the Akt, Notch and T-cell receptor pathways.
NCBI: 57599 MIM: 612167 HGNC: 30914 Ensembl: ENSG00000114742
dbSNP: 57599 ClinVar: 57599 TCGA: ENSG00000114742 COSMIC: WDR48
Anne Olazabal-Herrero ; Godefridus J Peters ; Elisa Giovannetti ; Jose Antonio Rodriguez
WDR48 (WD repeat domain 48)
Atlas Genet Cytogenet Oncol Haematol. 2017-04-01
Online version: http://atlasgeneticsoncology.org/gene/53058/img/tumors-explorer/meetings/