WDR48 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_1902525Biological processregulation of protein monoubiquitination
GO_0007283Biological processspermatogenesis
GO_0048568Biological processembryonic organ development
GO_0006974Biological processDNA damage response
GO_0035264Biological processmulticellular organism growth
GO_0072520Biological processseminiferous tubule development
GO_0048872Biological processhomeostasis of number of cells
GO_0000724Biological processdouble-strand break repair via homologous recombination
GO_0050679Biological processpositive regulation of epithelial cell proliferation
GO_1905168Biological processpositive regulation of double-strand break repair via homologous recombination
GO_0007338Biological processsingle fertilization
GO_0043588Biological processskin development
GO_0046427Biological processpositive regulation of receptor signaling pathway via JAK-STAT
GO_0048705Biological processskeletal system morphogenesis
GO_0005764Cellular componentlysosome
GO_0005654Cellular componentnucleoplasm
GO_0005829Cellular componentcytosol
GO_0005770Cellular componentlate endosome
GO_0005737Cellular componentcytoplasm
GO_0043231Cellular componentintracellular membrane-bounded organelle
GO_0005634Cellular componentnucleus
GO_0003677Molecular functionDNA binding
GO_0003697Molecular functionsingle-stranded DNA binding
GO_0003690Molecular functiondouble-stranded DNA binding
GO_0035800Molecular functiondeubiquitinase activator activity
GO_0005515Molecular functionprotein binding
GO_0043130Molecular functionubiquitin binding

IV. Literature review

[source]
Gene nameWDR48
Protein nameWD repeat-containing protein 48 (USP1-associated factor 1)
WD repeat domain 48
WD repeat-containing protein 48 (USP1-associated factor 1) (WD repeat endosomal protein) (p80)
Alternative protein WDR48
SynonymshCG_19029
KIAA1449
UAF1
DescriptionFUNCTION: Regulator of deubiquitinating complexes, which acts as a strong activator of USP1, USP12 and USP46 . Enhances the USP1-mediated deubiquitination of FANCD2; USP1 being almost inactive by itself . Activates deubiquitination by increasing the catalytic turnover without increasing the affinity of deubiquitinating enzymes for the substrate . Also activates deubiquitinating activity of complexes containing USP12 . In complex with USP12, acts as a potential tumor suppressor by positively regulating PHLPP1 stability . Docks at the distal end of the USP12 fingers domain and induces a cascade of structural changes leading to the activation of the enzyme . Together with RAD51AP1, promotes DNA repair by stimulating RAD51-mediated homologous recombination . Binds single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA) . DNA-binding is required both for USP1-mediated deubiquitination of FANCD2 and stimulation of RAD51-mediated homologous recombination: both WDR48/UAF1 and RAD51AP1 have coordinated role in DNA-binding during these processes . Together with ATAD5 and by regulating USP1 activity, has a role in PCNA-mediated translesion synthesis (TLS) by deubiquitinating monoubiquitinated PCNA . Together with ATAD5, has a role in recruiting RAD51 to stalled forks during replication stress . .; FUNCTION: (Microbial infection) 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 . .

AccessionsENST00000413099.6
C9JC24
F8W6P2
F8W9K4
Q8TAF3
F8W7Q3
ENST00000302313.10 [Q8TAF3-1]
ENST00000423296.6
ENST00000420940.6
L8EA86
A0A024R2L1
ENST00000433841.6
F8W7Y5
ENST00000441361.1