WDR48 Gene
protein-coding GIFtS: 51
GCID: GC03P039069
|
|
WD repeat domain 48
| |
Aliases
for WDR48 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| WD Repeat Domain 481 2 | | WD Repeat Endosomal Protein2 3 | | KIAA14491 3 5 | | USP1 Associated Factor 12 | | P801 2 | | WD Repeat-Containing Protein 482 | | UAF12 3 | | P801 2 | | USP1-Associated Factor 12 3 | | |
Export aliases for WDR48 gene to outside databases |
Summaries
for WDR48 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: WDR48_HUMAN, Q8TAF3Function: Regulator of deubiquitinating complexes. Acts as a strong activator of USP1 by enhancing the USP1-mediateddeubiquitination of FANCD2; USP1 being almost inactive by itself. Also activates deubiquitinating activity ofcomplexes containing USP12 and USP46, respectively. Activates deubiquitination by increasing the catalytic turnoverwithout increasing the affinity of deubiquitinating enzymes for the substrate. In case of infection by Herpesvirussaimiri, 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 receptorTCR. May play a role in generation of enlarged endosomal vesicles via interaction with TIP. In case of infection bypapillomavirus HPV11, promotes the maintenance of the viral genome via its interaction with HPV11 helicase E1
|
Genomic Views
for WDR48 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_022517.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the WDR48 gene promoter:
GR-beta ATF-2 Pax-2 Pax-2a Arnt CRE-BP1 GR-alpha c-Jun ATF
Other transcription factors
Search SABiosciences Chromatin IP Primers for WDR48
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat WDR48 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3p21.33 Ensembl cytogenetic band: 3p22.2 HGNC cytogenetic band: 3p21.33WDR48 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03P039069: view genomic region
(about GC identifiers)
Start:
|
39,093,489 bp from pter |
End:
|
39,138,155 bp from pter |
Size:
|
44,667 bases |
Orientation:
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plus strand |
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Proteins
for WDR48 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: WDR48_HUMAN, Q8TAF3 (See
protein sequence)Recommended Name: WD repeat-containing protein 48 Size: 677 amino acids; 76210 Da
Subunit: Interacts with USP1, USP12 and USP46. Interacts with Saimiriine herpesvirus TIP protein. Interacts withpapillomavirus HPV11 E1 protein
Subcellular location: Nucleus. Cytoplasm. Lysosome. Note=Mainly cytoplasmic. In case of infection by papillomavirusHPV11, translocates to the nucleus via its interaction with papillomavirus HPV11
Sequence caution: Sequence=AAH37168.1; Type=Erroneous initiation; Sequence=BAA95973.2; Type=Erroneous initiation;Sequence=CAH56182.1; Type=Erroneous initiation; Sequence=CAH56300.1; Type=Erroneous initiation;
Secondary accessions: B4DM86 B4DQI2 B4DY84 Q63HJ2 Q658Y1 Q8N3Z1 Q9NSK8 Q9P279Alternative splicing: 5 isoforms: Q8TAF3-1 Q8TAF3-2 Q8TAF3-3 Q8TAF3-4 Q8TAF3-5 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for WDR48: NX_Q8TAF3
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8TAF3
WDR48 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_065890.1
ENSEMBL proteins: ENSP00000307491 ENSP00000401421 ENSP00000388720 ENSP00000406025 ENSP00000415963 ENSP00000416900 ENSP00000445187 ENSP00000379557 ENSP00000408160
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
WDR48 for ontologies About GeneDecksing
WDR48 Antibody Products:
Assay Products for WDR48: |
Protein
Domains /
Families
for WDR48 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
WDR48 for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry Q8TAF3ProtoNet protein and cluster: Q8TAF3 UniProtKB/Swiss-Prot: WDR48_HUMAN, Q8TAF3Domain: N-terminal WD region interacts with TIP and C-terminal region mediates lysosomal localization. The WD repeatsare required for the interaction with deubiquitinating enzymes USP1, USP12 and USP46Similarity: Belongs to the WD repeat WDR48 familySimilarity: Contains 8 WD repeats |
Function
for WDR48 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: WDR48_HUMAN, Q8TAF3Function: Regulator of deubiquitinating complexes. Acts as a strong activator of USP1 by enhancing the USP1-mediateddeubiquitination of FANCD2; USP1 being almost inactive by itself. Also activates deubiquitinating activity ofcomplexes containing USP12 and USP46, respectively. Activates deubiquitination by increasing the catalytic turnoverwithout increasing the affinity of deubiquitinating enzymes for the substrate. In case of infection by Herpesvirussaimiri, 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 receptorTCR. May play a role in generation of enlarged endosomal vesicles via interaction with TIP. In case of infection bypapillomavirus HPV11, promotes the maintenance of the viral genome via its interaction with HPV11 helicase E1
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for WDR48 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for WDR48
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for WDR48 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WDR48 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WDR48 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table
WDR48 for ontologies About GeneDecksing
3 GenomeRNAi human phenotypes for WDR48:
|
Pathways & Interactions
for WDR48 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for WDR48
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/118 Interacting proteins for WDR48 (Q8TAF33 ENSP000003074914) via UniProtKB, MINT, STRING, and/or I2D (see all 118)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table
WDR48 for ontologies About GeneDecksing
|
Drugs & Compounds
for WDR48 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for WDR48
Search CenterWatch for drugs/clinical trials and news about WDR48
|
Transcripts
for WDR48 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for WDR48 gene: NM_020839.2 Unigene Cluster for WDR48: WD repeat domain 48 Hs.109778 [show with all ESTs]Unigene Representative Sequence: BX64917013 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000302313(uc011ayt.1 uc003cit.3) ENST00000423296 ENST00000413099
ENST00000433841 ENST00000420940(uc003ciu.3) ENST00000441361 ENST00000489838
ENST00000463198 ENST00000477197 ENST00000466405 ENST00000544962(uc011ayv.1)
ENST00000396258(uc011ayu.1) ENST00000418020
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for WDR48 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for WDR48
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: WDR48 (NM_020839) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for WDR48 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WDR48 |
Additional cDNA sequence: AB040882.2 AF468833.1 AK025513.1 AK074278.1 AK297349.1 AK298810.1 AK302307.1 AL162064.1 AL832926.1 BC012861.1 BC026353.1 BC037168.2 BX649170.1 15 DOTS entries: DT.100797578 DT.100812119 DT.99986917 DT.115349 DT.453555 DT.100662011 DT.91759402 DT.40271747 DT.101971284 DT.97808903 DT.100812118 DT.100812121 DT.120871583 DT.120871595 DT.97818995 24/291 AceView cDNA sequences (see all 291): BQ921160 AL537446 AL162064 AA602074 BM806445 BM675379 BC026353 AW003716 BM723036 AA400701 CA866142 CR595795 BM472452 AA369392 AL534073 BM703435 AI254339 AF468833 Z46027 AL548715 CD358900 BU539131 BM827464 CA776428
GeneLoc Exon Structure
|
Expression
for WDR48 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| WDR48 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATTGTATTTC
About this image
See WDR48 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for WDR48
SOURCE GeneReport for Unigene cluster: Hs.109778
UniProtKB/Swiss-Prot: WDR48_HUMAN, Q8TAF3Tissue specificity: Ubiquitous
SABiosciences Custom PCR Arrays for WDR48
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for WDR48
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat WDR48 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat WDR48 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat WDR48 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WDR48 |
Orthologs
for WDR48 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for WDR48 gene from 9/28 species (see all 28) About this table
ENSEMBL Gene Tree for WDR48 (if available)
TreeFam Gene Tree for WDR48 (if available) |
Paralogs
for WDR48 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for WDR48 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for WDR48 (39093489 - 39138155 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for WDR48
2 CNVs: 91285 3426 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing WDR48 |
|
Disorders
/ Diseases
for WDR48 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
WDR48 for disorders About GeneDecksing
OMIM gene information: 612167
OMIM disorders: --
6  diseases for WDR48: About MalaCardsanaplastic large cell lymphoma inflammatory myofibroblastic tumor non-hodgkin lymphoma hodgkin's lymphoma
fanconi's anemia anemia
1 disease from the University of Copenhagen DISEASES database for WDR48:Fanconi's anemia Export disorders for WDR48 gene to outside databases
|
Publications
for WDR48 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for WDR48 gene, integrated from 9 sources (see all 37):
(articles sorted by number of sources associating them with WDR48) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Herpesviral protein targets a cellular WD repeat endosomal protein to downregulate T lymphocyte receptor expression. (PubMed id 12196293)1, 2, 3 Park J....Jung J.U. (2002)
- Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2, 3 Nagase T.... Ohara O. (2000)
- Human papillomavirus E1 helicase interacts with the WD repeat protein p80 to promote maintenance of the viral genome in keratinocytes. (PubMed id 18032488)1, 2, 9 Cote-Martin A....Archambault J. (2008)
- UAF1 is a subunit of multiple deubiquitinating enzyme complexes. (PubMed id 19075014)1, 2 Cohn M.A.... D'Andrea A.D. (2009)
- A UAF1-containing multisubunit protein complex regulates the Fanconi anemia pathway. (PubMed id 18082604)1, 2 Cohn M.A....D'Andrea A.D. (2007)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Distinct roles of cellular Lck and p80 proteins in herpesvirus saimiri Tip function on lipid rafts. (PubMed id 12885920)1, 2 Park J.... Jung J.U. (2003)
- Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (2002)
- Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
- Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
|
External Searches for WDR48 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing WDR48 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing WDR48 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing WDR48 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for WDR48 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for WDR48 gene:
Search GeneIP for patents involving WDR48
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for WDR48 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| |
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| |  |  |  |  | | | | |
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 | | | WDR48 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WDR48 |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WDR48 |
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