Browse WDR48

Summary
SymbolWDR48
NameWD repeat domain 48
Aliases KIAA1449; SPG60; UAF1; USP1 associated factor 1; USP1-associated factor 1; WD repeat endosomal protein; WD r ......
Chromosomal Location3p21.33
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Basic function annotation.
> Subcellular Location, Domain and Function
> Gene Ontology
> KEGG and Reactome Pathway
> Subcellular Location, Domain and Function
 
Subcellular Location Nucleus Cytoplasm Lysosome Late endosome Note=Mainly in cytoplasmic compartments (PubMed:12196293, PubMed:18032488). In case of infection by papillomavirus HPV11, translocates to the nucleus via its interaction with papillomavirus HPV11 (PubMed:18032488).
Domain PF11816 Domain of unknown function (DUF3337)
PF00400 WD domain
Function

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 (PubMed:18082604). Also activates deubiquitinating activity of complexes containing USP12 (PubMed:19075014, PubMed:27650958, PubMed:27373336). Docks at the distal end of the USP12 fingers domain and induces a cascade of structural changes leading to the activation of the enzyme (PubMed:27650958, PubMed:27373336). 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 (PubMed:24145035). 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 (PubMed:12196293). In case of infection by papillomavirus HPV11, promotes the maintenance of the viral genome via its interaction with HPV11 helicase E1 (PubMed:18032488).

> Gene Ontology
 
Biological Process GO:0000724 double-strand break repair via homologous recombination
GO:0000725 recombinational repair
GO:0001501 skeletal system development
GO:0006302 double-strand break repair
GO:0006310 DNA recombination
GO:0006513 protein monoubiquitination
GO:0007283 spermatogenesis
GO:0007338 single fertilization
GO:0007548 sex differentiation
GO:0008406 gonad development
GO:0008584 male gonad development
GO:0009566 fertilization
GO:0016579 protein deubiquitination
GO:0031396 regulation of protein ubiquitination
GO:0035264 multicellular organism growth
GO:0043588 skin development
GO:0045137 development of primary sexual characteristics
GO:0046546 development of primary male sexual characteristics
GO:0046661 male sex differentiation
GO:0048232 male gamete generation
GO:0048568 embryonic organ development
GO:0048608 reproductive structure development
GO:0048705 skeletal system morphogenesis
GO:0048872 homeostasis of number of cells
GO:0050673 epithelial cell proliferation
GO:0050678 regulation of epithelial cell proliferation
GO:0050679 positive regulation of epithelial cell proliferation
GO:0061458 reproductive system development
GO:0070646 protein modification by small protein removal
GO:0072520 seminiferous tubule development
GO:1902525 regulation of protein monoubiquitination
GO:1903320 regulation of protein modification by small protein conjugation or removal
Molecular Function -
Cellular Component GO:0005770 late endosome
> KEGG and Reactome Pathway
 
KEGG hsa03460 Fanconi anemia pathway
Reactome R-HSA-5688426: Deubiquitination
R-HSA-392499: Metabolism of proteins
R-HSA-597592: Post-translational protein modification
R-HSA-5689880: Ub-specific processing proteases
Summary
SymbolWDR48
NameWD repeat domain 48
Aliases KIAA1449; SPG60; UAF1; USP1 associated factor 1; USP1-associated factor 1; WD repeat endosomal protein; WD r ......
Chromosomal Location3p21.33
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Literatures that report relations between WDR48 and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells.
> Text Mining
 

There is no record.

Summary
SymbolWDR48
NameWD repeat domain 48
Aliases KIAA1449; SPG60; UAF1; USP1 associated factor 1; USP1-associated factor 1; WD repeat endosomal protein; WD r ......
Chromosomal Location3p21.33
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets.
> High-throughput Screening
  Statistical results of WDR48 in screening data sets for detecting immune reponses.
PMID Screening System Cancer Type Cell Line Data Set Statistical Results Relation to immunity
29301958CRISPR-Cas9 melanomaB16F10Pmel-1 T cell NA/NS NA/NS
29301958CRISPR-Cas9 melanomaB16F10OT-1 T cell logFC: 1.37; FDR: 0.000381 Sensitive to T cell-mediated killing
28783722CRISPR-Cas9 melanomaMel6242CT-CRISPR NA/NS NA/NS
28723893CRISPR-Cas9 melanomaB16GVAX+Anti-PD1 NA/NS NA/NS
28723893CRISPR-Cas9 melanomaB16GVAX NA/NS NA/NS
25691366RNAiBreast cancerMCF7Luc-CTL assay NA/NS NA/NS
24476824shRNAmelanomaB16Primary screen NA/NS NA/NS
24476824shRNAmelanomaB16Secondary screen NA/NS NA/NS
Summary
SymbolWDR48
NameWD repeat domain 48
Aliases KIAA1449; SPG60; UAF1; USP1 associated factor 1; USP1-associated factor 1; WD repeat endosomal protein; WD r ......
Chromosomal Location3p21.33
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets.
> Expression difference between responders and non-responders
> Mutation difference between responders and non-responders
> Expression difference between responders and non-responders
 
Points in the above scatter plot represent the expression difference of WDR48 in various data sets.
No PMID Cancer type Group Drug # Res # NRes Log2 (Fold Change) P value Anno
126997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)14120.1480.628
226997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)650.3570.827
326997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)87-0.0060.996
428552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 916-0.1060.732
528552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 59-0.1590.934
628552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 47-0.0430.985
729033130MelanomaallAnti-PD-1 (nivolumab) 26230.0020.997
829033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 15110.0640.969
929033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 1112-0.070.97
1029301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 480.1670.888
1129301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 2001
1229301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 280.5990.733
1329443960Urothelial cancerallAnti-PD-L1 (atezolizumab) 682300.0780.227
> Mutation difference between responders and non-responders
 
Points in the above scatter plot represent the mutation difference of WDR48 in various data sets.
No PMID Cancer type Group Drug # Res # NRes % Mut/Res % Mut/NRes % Diff (R vs NR) Pval Anno
125765070Non-small cell lung cancer (NSCLC)allAnti-PD-1 (pembrolizumab) 14170001
225765070Non-small cell lung cancer (NSCLC)smokingAnti-PD-1 (pembrolizumab) 1030001
325765070Non-small cell lung cancer (NSCLC)non-smokingAnti-PD-1 (pembrolizumab) 4140001
426359337MelanomaallAnti-CTLA-4 (ipilimumab) 27733.703.70.27
526359337MelanomaBRAFiAnti-CTLA-4 (ipilimumab) 0140001
626359337Melanomanon-BRAFiAnti-CTLA-4 (ipilimumab) 27593.703.70.314
726997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)21170001
826997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)860001
926997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)13110001
1028552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 9160001
1128552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 590001
1228552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 470001
1329033130MelanomaallAnti-PD-1 (nivolumab) 38270001
1429033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 22130001
1529033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 16140001
1629301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 11130001
1729301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 610001
1829301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 5120001
Summary
SymbolWDR48
NameWD repeat domain 48
Aliases KIAA1449; SPG60; UAF1; USP1 associated factor 1; USP1-associated factor 1; WD repeat endosomal protein; WD r ......
Chromosomal Location3p21.33
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of WDR48. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene.
> Lymphocyte
 
Summary
SymbolWDR48
NameWD repeat domain 48
Aliases KIAA1449; SPG60; UAF1; USP1 associated factor 1; USP1-associated factor 1; WD repeat endosomal protein; WD r ......
Chromosomal Location3p21.33
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of WDR48. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by WDR48.
> Immunoinhibitor
> Immunostimulator
> MHC molecule
> Immunoinhibitor
 
> Immunostimulator
 
> MHC molecule
 
Summary
SymbolWDR48
NameWD repeat domain 48
Aliases KIAA1449; SPG60; UAF1; USP1 associated factor 1; USP1-associated factor 1; WD repeat endosomal protein; WD r ......
Chromosomal Location3p21.33
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of WDR48. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene.
> Chemokine
> Receptor
> Chemokine
 
> Receptor
 
Summary
SymbolWDR48
NameWD repeat domain 48
Aliases KIAA1449; SPG60; UAF1; USP1 associated factor 1; USP1-associated factor 1; WD repeat endosomal protein; WD r ......
Chromosomal Location3p21.33
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Distribution of WDR48 expression across immune and molecular subtypes.
> Immune subtype
> Molecular subtype
> Immune subtype
 
> Molecular subtype
 
Summary
SymbolWDR48
NameWD repeat domain 48
Aliases KIAA1449; SPG60; UAF1; USP1 associated factor 1; USP1-associated factor 1; WD repeat endosomal protein; WD r ......
Chromosomal Location3p21.33
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Associations between WDR48 and clinical features.
> Overall survival analysis
> Cancer stage
> Tumor grade
> Overall survival
 
> Stage
 
> Grade
 
Summary
SymbolWDR48
NameWD repeat domain 48
Aliases KIAA1449; SPG60; UAF1; USP1 associated factor 1; USP1-associated factor 1; WD repeat endosomal protein; WD r ......
Chromosomal Location3p21.33
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Drugs targeting WDR48 collected from DrugBank database.
> Drugs from DrugBank database
 

There is no record.