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WDR48 Gene

protein-coding   GIFtS: 56
GCID: GC03P039093

WD Repeat Domain 48

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
WD Repeat Domain 481 2     P802
UAF12 3     USP1 Associated Factor 12
USP1-Associated Factor 12 3     WD Repeat-Containing Protein 482
WD Repeat Endosomal Protein2 3     p803
KIAA14493 5     

External Ids:    HGNC: 309141   Entrez Gene: 575992   Ensembl: ENSG000001147427   OMIM: 6121675   UniProtKB: Q8TAF33   

Export aliases for WDR48 gene to outside databases

Previous GC identifer: GC03P039069


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for WDR48 Gene:
WDR48 (WD repeat domain 48) is a protein-coding gene. Diseases associated with WDR48 include inflammatory myofibroblastic tumor, and fanconi's anemia.

UniProtKB/Swiss-Prot: WDR48_HUMAN, Q8TAF3
Function: Regulator of deubiquitinating complexes. Acts as a strong activator of USP1 by enhancing the
USP1-mediated deubiquitination of FANCD2; USP1 being almost inactive by itself. Also activates deubiquitinating
activity of complexes containing USP12 and USP46, respectively. Activates deubiquitination by increasing the
catalytic turnover without increasing the affinity of deubiquitinating enzymes for the substrate. 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




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NT_022517.19  NC_018914.2  
Regulatory elements:
   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

SwitchGear Promoter luciferase reporter plasmidWDR48 promoter sequence
   Search Chromatin IP Primers for WDR48

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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: 3p21.33

WDR48 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WDR48 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P039093:  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:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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 with
papillomavirus HPV11 E1 protein
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 Q9P279
Alternative 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

Explore proteomics data for WDR48 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys106, Lys327, Lys578
  • Modification sites at PhosphoSitePlus

  • See WDR48 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065890.1  
    ENSEMBL proteins: 
     ENSP00000307491   ENSP00000401421   ENSP00000388720   ENSP00000406025   ENSP00000415963  
     ENSP00000416900   ENSP00000445187   ENSP00000379557   ENSP00000408160  

    WDR48 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for WDR48


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WDR: WD repeat domain containing

    Selected InterPro protein domains (see all 6):
     IPR021772 DUF3337
     IPR019775 WD40_repeat_CS
     IPR001680 WD40_repeat
     IPR020472 G-protein_beta_WD-40_rep
     IPR017986 WD40_repeat_dom

    Graphical View of Domain Structure for InterPro Entry Q8TAF3

    ProtoNet protein and cluster: Q8TAF3

    UniProtKB/Swiss-Prot: WDR48_HUMAN, Q8TAF3
    Domain: N-terminal WD region interacts with TIP and C-terminal region mediates lysosomal localization. The WD
    repeats are required for the interaction with deubiquitinating enzymes USP1, USP12 and USP46
    Similarity: Belongs to the WD repeat WDR48 family
    Similarity: Contains 8 WD repeats


    WDR48 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: WDR48_HUMAN, Q8TAF3
    Function: Regulator of deubiquitinating complexes. Acts as a strong activator of USP1 by enhancing the
    USP1-mediated deubiquitination of FANCD2; USP1 being almost inactive by itself. Also activates deubiquitinating
    activity of complexes containing USP12 and USP46, respectively. Activates deubiquitination by increasing the
    catalytic turnover without increasing the affinity of deubiquitinating enzymes for the substrate. 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

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI18082604
         
    WDR48 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for WDR48:
     Increased S DNA content  Increased gamma-H2AX phosphory  Increased number of mitotic ce 

         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Wdr48):
     embryogenesis  endocrine/exocrine gland  growth/size/body  integument  mortality/aging 
     reproductive system  skeleton 

    WDR48 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for WDR48
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for WDR48
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for WDR48

    miRNA
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    miRTarBase miRNAs that target WDR48:
    hsa-mir-99b-5p (MIRT044190), hsa-let-7e-5p (MIRT051598)

    Block miRNA regulation of human, mouse, rat WDR48 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate WDR48 (see all 28):
    hsa-miR-194* hsa-miR-448 hsa-miR-3673 hsa-miR-193a-3p hsa-miR-3614-3p hsa-miR-431 hsa-miR-218 hsa-miR-3150a-3p
    SwitchGear 3'UTR luciferase reporter plasmidWDR48 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: WDR48 (NM_020839)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WDR48

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WDR48


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    WDR48_HUMAN, Q8TAF3: Nucleus. Cytoplasm. Lysosome. Note=Mainly cytoplasmic. In case of infection by
    papillomavirus HPV11, translocates to the nucleus via its interaction with papillomavirus HPV11
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    nucleus5
    vacuole5
    mitochondrion2
    cytosol1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA18082604
    GO:0005764lysosome IEA--
    GO:0043231intracellular membrane-bounded organelle IDA--

    WDR48 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for WDR48 About    
    See pathways by source

    SuperPathContained pathways About
    1Fanconi anemia pathway (KEGG)
    Fanconi anemia pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for WDR48):
        Fanconi anemia pathway


    WDR48 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for WDR48
    Interactions:

        Search GeneGlobe Interaction Network for WDR48

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for WDR48 (Q8TAF33 ENSP000003074914) via UniProtKB, MINT, STRING, and/or I2D (see all 128)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000224774P678703, ENSP000004156154I2D: score=2 STRING: ENSP00000415615
    ENSG00000232960P678703, ENSP000003955464I2D: score=2 STRING: ENSP00000395546
    CSNK2BP678703I2D: score=2 
    ENSG00000206406P678703I2D: score=2 
    ENSG00000224398P678703I2D: score=2 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016032viral process IEA--
    GO:0016579protein deubiquitination IDA18082604
    GO:0019048modulation by virus of host morphology or physiology ----

    WDR48 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for WDR48



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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: BX649170
    13 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
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat WDR48 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate WDR48 (see all 28):
    hsa-miR-194* hsa-miR-448 hsa-miR-3673 hsa-miR-193a-3p hsa-miR-3614-3p hsa-miR-431 hsa-miR-218 hsa-miR-3150a-3p
    SwitchGear 3'UTR luciferase reporter plasmidWDR48 3' UTR sequence
    Inhib. RNA
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat WDR48
      QuantiTect SYBR Green Assays in human, mouse, rat WDR48
      QuantiFast Probe-based Assays in human, mouse, rat WDR48

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 291):

    BX405172 AF468833 BM909810 W69316 AW954041 NM_020839 T30638 BM463054 
    BG575070 CA429964 AI890490 BX282622 BC012861 BG819522 AW516885 BM806445 
    CB129133 AA866092 AB040882 BP376587 CB129207 BQ774562 CA941113 BQ771990 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    WDR48 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTGTATTTC
    WDR48 Expression
    About this image

    WDR48 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    WDR48 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.109778

    UniProtKB/Swiss-Prot: WDR48_HUMAN, Q8TAF3
    Tissue specificity: Ubiquitous

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WDR48

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for WDR48 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Wdr481 , 5 WD repeat domain 481, 5 88.56(n)1
    98.96(a)1
      9 (71.33 cM)5
    675611  NM_026236.31  NP_080512.11 
     1198948955 
    chicken
    (Gallus gallus)
    Aves WDR481 WD repeat domain 48 86.71(n)
    98.52(a)
      420427  NM_001030964.1  NP_001026135.1 
    lizard
    (Anolis carolinensis)
    Reptilia WDR486
    WD repeat domain 48
    96(a)
    1 ↔ 1
    6(326270-350267)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.337312 Xenopus laevis transcribed sequence with weak similarity more 82.81(n)    BJ618244.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufd19a042 Danio rerio cDNA clone MGC66229 IMAGE3817749, complete more 78.2(n)    BC057489.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG90621 CG9062 57.6(n)
    60.69(a)
      36199  NM_001273957.1  NP_001260886.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F35G12.41 F35G12.4 55.04(n)
    50.08(a)
      175600  NM_065529.6  NP_497930.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YOL087C)4 Putative protein of unknown function; green fluorescent more   --   15(158637-155287) 854066  NP_014554.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons LRS11 LRS1 49.64(n)
    41.54(a)
      819671  NM_180185.2  NP_850516.1 
    rice
    (Oryza sativa)
    Liliopsida Os12g01650001 Os12g0165000 49.72(n)
    41.71(a)
      4351590  NM_001072770.1  NP_001066238.1 


    ENSEMBL Gene Tree for WDR48 (if available)
    TreeFam Gene Tree for WDR48 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for WDR48 gene
    9 SIMAP similar genes for WDR48 using alignment to 8 protein entries:     WDR48_HUMAN (see all proteins):
    PF20    WSB1    SMU1    POC1A    WDR61    KATNB1
    POC1B    GNB2L1    SPAG16

    WDR48 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for WDR48 (see all 882)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs10535161,2
    C,F,A,H--39070347(+) GCAAAA/GAAAAA 1 -- ut31 trp316Minor allele frequency- G:0.46NS EA NA CSA 1979
    rs670624051,2
    C--39070347(+) GCAAA-/GAAAAA 1 -- ut310--------
    rs1832458341,2
    --39091525(+) GTATTG/TTATTT 1 -- us2k10--------
    rs1460566101,2
    --39091551(+) CTCAAC/TAGACA 1 -- us2k10--------
    rs755466661,2
    F--39091560(+) CACTTA/GAGCAA 1 -- us2k11Minor allele frequency- G:0.04WA 118
    rs67636071,2
    C,F,A--39091596(+) CCCTAG/CCTGTA 1 -- us2k111Minor allele frequency- C:0.38NA WA CSA EA 371
    rs1487488151,2
    C--39091722(+) CTCCT-/GCTACA 1 -- us2k10--------
    rs67789631,2
    C,F,A,H--39091812(+) CTTCAG/TAGTAC 1 -- us2k124Minor allele frequency- T:0.41NS EA NA WA CSA 2351
    rs1400041661,2
    C--39092004(+) TACCTA/GTAAGT 1 -- us2k10--------
    rs2006930781,2
    C--39092087(-) TTCTTA/CAATTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for WDR48 (39093489 - 39138155 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for WDR48:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv1449e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing WDR48
    DNA2.0 Custom Variant and Variant Library Synthesis for WDR48

    (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.)
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    OMIM gene information: 612167    OMIM disorders: --

    5 diseases for WDR48:    
    About MalaCards
    inflammatory myofibroblastic tumor    fanconi's anemia    anaplastic large cell lymphoma    non-hodgkin lymphoma
    hodgkin's lymphoma

    1 disease from the University of Copenhagen DISEASES database for WDR48:
    Fanconi's anemia

    WDR48 for disorders           About GeneDecksing


    Export disorders for WDR48 gene to outside databases

    (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)
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    PubMed articles for WDR48 gene, integrated from 10 sources (see all 41):
    (articles sorted by number of sources associating them with WDR48)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Immunity 2002)
    2. 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. (DNA Res. 2000)
    3. 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. (J. Virol. 2008)
    4. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PubMed id 24482476)1, 3 Novarino G....Gleeson J.G. (Science 2014)
    5. UAF1 is a subunit of multiple deubiquitinating enzyme complexes. (PubMed id 19075014)1, 2 Cohn M.A.... D'Andrea A.D. (J. Biol. Chem. 2009)
    6. A UAF1-containing multisubunit protein complex regulates the Fanconi anemia pathway. (PubMed id 18082604)1, 2 Cohn M.A....D'Andrea A.D. (Mol. Cell 2007)
    7. 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. (Genome Res. 2004)
    8. 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. (J. Virol. 2003)
    9. 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. (DNA Res. 2002)
    10. WD repeat protein WDR48 in complex with deubiquitinase USP12 suppresses Akt-dependent cell survival signaling by stabilizing PH domain leucine-rich repeat protein phosphatase 1 (PHLPP1). (PubMed id 24145035)1 Gangula N.R. and Maddika S. (J. Biol. Chem. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 57599 HGNC: 30914 AceView: KIAA1449 Ensembl:ENSG00000114742 euGenes: HUgn57599
    ECgene: WDR48 Kegg: 57599 H-InvDB: WDR48

    (According to HUGE)
    About This Section

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    HUGE: KIAA1449

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for WDR48 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    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



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