TISIDB

Summary
Symbol	WDR48
Name	WD repeat domain 48
Aliases	KIAA1449; SPG60; UAF1; USP1 associated factor 1; USP1-associated factor 1; WD repeat endosomal protein; WD r ......
Chromosomal Location	3p21.33
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 [ TOP ]
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 [ TOP ]
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 [ TOP ]
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
Symbol	WDR48
Name	WD repeat domain 48
Aliases	KIAA1449; SPG60; UAF1; USP1 associated factor 1; USP1-associated factor 1; WD repeat endosomal protein; WD r ......
Chromosomal Location	3p21.33
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 [ TOP ]
There is no record.

Summary
Symbol	WDR48
Name	WD repeat domain 48
Aliases	KIAA1449; SPG60; UAF1; USP1 associated factor 1; USP1-associated factor 1; WD repeat endosomal protein; WD r ......
Chromosomal Location	3p21.33
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

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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
29301958	CRISPR-Cas9	melanoma	B16F10	Pmel-1 T cell	NA/NS	NA/NS
29301958	CRISPR-Cas9	melanoma	B16F10	OT-1 T cell	logFC: 1.37; FDR: 0.000381	Sensitive to T cell-mediated killing
28783722	CRISPR-Cas9	melanoma	Mel624	2CT-CRISPR	NA/NS	NA/NS
28723893	CRISPR-Cas9	melanoma	B16	GVAX+Anti-PD1	NA/NS	NA/NS
28723893	CRISPR-Cas9	melanoma	B16	GVAX	NA/NS	NA/NS
25691366	RNAi	Breast cancer	MCF7	Luc-CTL assay	NA/NS	NA/NS
24476824	shRNA	melanoma	B16	Primary screen	NA/NS	NA/NS
24476824	shRNA	melanoma	B16	Secondary screen	NA/NS	NA/NS

Summary
Symbol	WDR48
Name	WD repeat domain 48
Aliases	KIAA1449; SPG60; UAF1; USP1 associated factor 1; USP1-associated factor 1; WD repeat endosomal protein; WD r ......
Chromosomal Location	3p21.33
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

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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
1	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	14	12	0.148	0.628
2	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	6	5	0.357	0.827
3	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	7	-0.006	0.996
4	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	-0.106	0.732
5	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	-0.159	0.934
6	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	-0.043	0.985
7	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	26	23	0.002	0.997
8	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	15	11	0.064	0.969
9	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	11	12	-0.07	0.97
10	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	4	8	0.167	0.888
11	29301960	Clear cell renal cell carcinoma (ccRCC)	VEGFRi	Anti-PD-1 (nivolumab)	2	0	0	1
12	29301960	Clear cell renal cell carcinoma (ccRCC)	non-VEGFRi	Anti-PD-1 (nivolumab)	2	8	0.599	0.733
13	29443960	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	68	230	0.078	0.227

> Mutation difference between responders and non-responders

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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	% Diff (R vs NR)	Pval
1	25765070	Non-small cell lung cancer (NSCLC)	all	Anti-PD-1 (pembrolizumab)	14	17	0	0	1
2	25765070	Non-small cell lung cancer (NSCLC)	smoking	Anti-PD-1 (pembrolizumab)	10	3	0	0	1
3	25765070	Non-small cell lung cancer (NSCLC)	non-smoking	Anti-PD-1 (pembrolizumab)	4	14	0	0	1
4	26359337	Melanoma	all	Anti-CTLA-4 (ipilimumab)	27	73	3.7	3.7	0.27
5	26359337	Melanoma	BRAFi	Anti-CTLA-4 (ipilimumab)	0	14	0	0	1
6	26359337	Melanoma	non-BRAFi	Anti-CTLA-4 (ipilimumab)	27	59	3.7	3.7	0.314
7	26997480	Melanoma	all	Anti-PD-1 (pembrolizumab and nivolumab)	21	17	0	0	1
8	26997480	Melanoma	MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	8	6	0	0	1
9	26997480	Melanoma	non-MAPKi	Anti-PD-1 (pembrolizumab and nivolumab)	13	11	0	0	1
10	28552987	Urothelial cancer	all	Anti-PD-L1 (atezolizumab)	9	16	0	0	1
11	28552987	Urothelial cancer	smoking	Anti-PD-L1 (atezolizumab)	5	9	0	0	1
12	28552987	Urothelial cancer	non-smoking	Anti-PD-L1 (atezolizumab)	4	7	0	0	1
13	29033130	Melanoma	all	Anti-PD-1 (nivolumab)	38	27	0	0	1
14	29033130	Melanoma	NIV3-PROG	Anti-PD-1 (nivolumab)	22	13	0	0	1
15	29033130	Melanoma	NIV3-NAIVE	Anti-PD-1 (nivolumab)	16	14	0	0	1
16	29301960	Clear cell renal cell carcinoma (ccRCC)	all	Anti-PD-1 (nivolumab)	11	13	0	0	1
17	29301960	Clear cell renal cell carcinoma (ccRCC)	VEGFRi	Anti-PD-1 (nivolumab)	6	1	0	0	1
18	29301960	Clear cell renal cell carcinoma (ccRCC)	non-VEGFRi	Anti-PD-1 (nivolumab)	5	12	0	0	1

Summary
Symbol	WDR48
Name	WD repeat domain 48
Aliases	KIAA1449; SPG60; UAF1; USP1 associated factor 1; USP1-associated factor 1; WD repeat endosomal protein; WD r ......
Chromosomal Location	3p21.33
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 [ TOP ]

Summary
Symbol	WDR48
Name	WD repeat domain 48
Aliases	KIAA1449; SPG60; UAF1; USP1 associated factor 1; USP1-associated factor 1; WD repeat endosomal protein; WD r ......
Chromosomal Location	3p21.33
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 [ TOP ]

> Immunostimulator [ TOP ]

> MHC molecule [ TOP ]

Summary
Symbol	WDR48
Name	WD repeat domain 48
Aliases	KIAA1449; SPG60; UAF1; USP1 associated factor 1; USP1-associated factor 1; WD repeat endosomal protein; WD r ......
Chromosomal Location	3p21.33
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 [ TOP ]

> Receptor [ TOP ]

Summary
Symbol	WDR48
Name	WD repeat domain 48
Aliases	KIAA1449; SPG60; UAF1; USP1 associated factor 1; USP1-associated factor 1; WD repeat endosomal protein; WD r ......
Chromosomal Location	3p21.33
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Distribution of WDR48 expression across immune and molecular subtypes. > Immune subtype > Molecular subtype

> Immune subtype [ TOP ]

> Molecular subtype [ TOP ]

Summary
Symbol	WDR48
Name	WD repeat domain 48
Aliases	KIAA1449; SPG60; UAF1; USP1 associated factor 1; USP1-associated factor 1; WD repeat endosomal protein; WD r ......
Chromosomal Location	3p21.33
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Associations between WDR48 and clinical features. > Overall survival analysis > Cancer stage > Tumor grade

> Overall survival [ TOP ]

> Stage [ TOP ]

> Grade [ TOP ]

Summary
Symbol	WDR48
Name	WD repeat domain 48
Aliases	KIAA1449; SPG60; UAF1; USP1 associated factor 1; USP1-associated factor 1; WD repeat endosomal protein; WD r ......
Chromosomal Location	3p21.33
External Links	HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content	Drugs targeting WDR48 collected from DrugBank database.

> Drugs from DrugBank database [ TOP ]
There is no record.

Browse WDR48