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WDR78 Gene

protein-coding   GIFtS: 45
GCID: GC01M067278

WD Repeat Domain 78

  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 781 2
DIC42
WD Repeat-Containing Protein 782

External Ids:    HGNC: 262521   Entrez Gene: 798192   Ensembl: ENSG000001527637   UniProtKB: Q5VTH93   

Export aliases for WDR78 gene to outside databases

Previous GC identifers: GC01M066991 GC01M065386


(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 WDR78 Gene:
WDR78 (WD repeat domain 78) is a protein-coding gene. Diseases associated with WDR78 include choroiditis, and malaria. An important paralog of this gene is DNAI1.


(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_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the WDR78 gene promoter:
         TBP   AML1a   FOXF2   FOXO3   STAT5A   Evi-1   FOXO3b   Ik-2   FOXO3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidWDR78 promoter sequence
   Search Chromatin IP Primers for WDR78

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat WDR78


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p31.3   Ensembl cytogenetic band:  1p31.3   HGNC cytogenetic band: 1p31.2

WDR78 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WDR78 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M067278:  view genomic region     (about GC identifiers)

Start:
67,278,568 bp from pter      End:
67,390,570 bp from pter
Size:
112,003 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: WDR78_HUMAN, Q5VTH9 (See protein sequence)
Recommended Name: WD repeat-containing protein 78  
Size: 848 amino acids; 94573 Da
Secondary accessions: A8K9W5 B5MDT3 H7BY80 Q5VTI0 Q8N5G5 Q9H5R9 Q9UF44
Alternative splicing: 3 isoforms:  Q5VTH9-1   Q5VTH9-2   Q5VTH9-3   (No experimental confirmation available. Ref.1 (BAB15551) sequence differs from that shown due to frameshifts in positions 513 and 765)

Explore the universe of human proteins at neXtProt for WDR78: NX_Q5VTH9

Explore proteomics data for WDR78 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See WDR78 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_079039.4  NP_996897.2  

    ENSEMBL proteins: 
     ENSP00000360065   ENSP00000435836   ENSP00000433682   ENSP00000360062   ENSP00000433037  
     ENSP00000432979   ENSP00000436463   ENSP00000360061   ENSP00000432461   ENSP00000434351  
     ENSP00000393182  

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    (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

    3 InterPro protein domains:
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q5VTH9

    ProtoNet protein and cluster: Q5VTH9

    UniProtKB/Swiss-Prot: WDR78_HUMAN, Q5VTH9
    Similarity: Contains 6 WD repeats


    WDR78 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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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    WDR78 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for WDR78:
     Small cells 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for WDR78
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    Predesigned siRNA for gene silencing in human, mouse, rat WDR78

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    GenScript: all cDNA clones in your preferred vector (see all 2): WDR78 (NM_207014)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WDR78

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WDR78


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus3

    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for WDR78
    Interactions:

        Search GeneGlobe Interaction Network for WDR78

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for WDR78 (ENSP000003600654) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DPTENSP000003567914STRING: ENSP00000356791
    PRC1ENSP000003777934STRING: ENSP00000377793
    MAPRE1ENSP000003647214STRING: ENSP00000364721
    MAPRE2ENSP000003002494STRING: ENSP00000300249
    MAPRE3ENSP000002331214STRING: ENSP00000233121
    About this table

    (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 WDR78



    (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,
    Conferences by KenesGroup, 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 WDR78 gene (2 alternative transcripts): 
    NM_024763.4  NM_207014.2  

    Unigene Cluster for WDR78:

    WD repeat domain 78
    Hs.49421  [show with all ESTs]
    Unigene Representative Sequence: AK127011
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371026(uc009waw.3 uc001dcx.3) ENST00000491297(uc009wax.3)
    ENST00000464352 ENST00000371023(uc001dcy.3) ENST00000531552 ENST00000469450
    ENST00000493572 ENST00000531980 ENST00000371022 ENST00000532629 ENST00000488333
    ENST00000474506 ENST00000431318
    miRNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): WDR78 (NM_207014)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for WDR78
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WDR78
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat WDR78
      QuantiTect SYBR Green Assays in human, mouse, rat WDR78
      QuantiFast Probe-based Assays in human, mouse, rat WDR78

    Additional mRNA sequence: 

    AK026782.1 AK127011.1 AK292830.1 AL133617.1 BC032406.1 BC126379.1 BC126381.1 BX648840.1 

    10 DOTS entries:

    DT.92418862  DT.100012035  DT.95203443  DT.100723825  DT.121437461  DT.99980565  DT.40203068  DT.75110456 
    DT.91804210  DT.99958324 

    Selected AceView cDNA sequences (see all 71):

    AI638110 AU280358 AW167412 BM968567 AL133617 CA944435 CR620846 N67990 
    AI807886 BE041427 AW299570 AI962847 BQ029890 BU608359 AI989799 NM_024763 
    CA396885 BF591951 AA909201 BX648840 BQ441417 AI081062 AK026782 AL516734 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for WDR78    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b
    SP1:                                      -                                               -                                                   
    SP2:                                            -     -                                   -     -                                             
    SP3:                                                                                      -                       -                           
    SP4:                                      -                                                                                                   


    ECgene alternative splicing isoforms for WDR78

    (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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    WDR78 expression in normal human tissues (normalized intensities)      WDR78 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    WDR78 Expression
    About this image


    WDR78 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Diencephalic Roof Plate
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Medulla Oblongata
     
     Eye (Sensory Organs)
             Retina
     
     Testis (Reproductive System)
    WDR78 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    WDR78 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.49421
        Custom PCR Arrays for WDR78
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WDR78

    (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 animals.

    Orthologs for WDR78 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Wdr781 , 5 WD repeat domain 781, 5 79.7(n)1
    75.44(a)1
      4 (47.28 cM)5
    2425841  NM_146254.41  NP_666366.41 
     1030380655 
    chicken
    (Gallus gallus)
    Aves WDR781 WD repeat domain 78 63.16(n)
    55.62(a)
      429114  XM_004936872.1  XP_004936929.1 
    lizard
    (Anolis carolinensis)
    Reptilia WDR786
    WD repeat domain 78
    52(a)
    1 ↔ 1
    GL343410.1(208849-251333)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.151332 Xenopus laevis transcribed sequence with weak similarity more 73.88(n)    BJ083746.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wdr781 WD repeat domain 78 56.93(n)
    50.15(a)
      553797  NM_001020759.1  NP_001018595.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dic61B1 Dynein intermediate chain at 61B 38.58(n)
    31.45(a)
      38020  NM_138157.3  NP_612001.1 


    ENSEMBL Gene Tree for WDR78 (if available)
    TreeFam Gene Tree for WDR78 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for WDR78 gene
    DNAI12  DYNC1I12  WDR342  DYNC1I22  
    1 SIMAP similar gene for WDR78 using alignment to 10 protein entries:     WDR78_HUMAN (see all proteins):
    DNAI1

    WDR78 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 WDR78 (see all 2077)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1501308171,2
    C--67278135(+) CTAGG-/GTGTGTG 1 -- int10--------
    rs679077461,2
    C--67278154(+) GTGTC-/TGTGTGT 1 -- int10--------
    rs596689091,2
    C--67278155(+) TGTGT-/GT/GT 
    GTGTGTGT
    TTAAG
    1 -- int12NA 4
    rs1841512241,2
    --67278181(+) TGTGTC/GTGTGT 1 -- int10--------
    rs1441488331,2
    --67278323(+) TCCTTC/TTGAAG 1 -- int10--------
    rs789125031,2
    C,F--67278493(+) TATACG/ACAGGC 1 -- int11Minor allele frequency- A:0.04NA 120
    rs1885556211,2
    --67278637(+) AGAAAG/TACAAA 1 -- ut310--------
    rs1915174551,2
    --67278732(+) CCTTGC/TTTTTG 1 -- ut310--------
    rs1836709671,2
    --67278803(+) TTCCCA/GCTGTT 1 -- ut310--------
    rs1893485681,2
    --67278886(+) CTATCA/GTCTCC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for WDR78 (67278568 - 67390570 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for WDR78:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2677491CNV Deletion23128226
    nsv871720CNV Loss21882294
    nsv871177CNV Loss21882294
    dgv235n71CNV Loss21882294
    nsv519580CNV Loss19592680
    nsv818200CNV Gain17921354
    nsv830093CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for WDR78

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    2 diseases for WDR78:    About MalaCards
    choroiditis    malaria


    WDR78 for disorders           About GeneDecksing


    Export disorders for WDR78 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 WDR78 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with WDR78)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A unified taxonomy for ciliary dyneins. (PubMed id 21953912)1, 3 Hom E.F....King S.M. (Cytoskeleton (Hoboken) 2011)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    6. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

    (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: 79819 HGNC: 26252 AceView: FLJ23129 Ensembl:ENSG00000152763 euGenes: HUgn79819
    ECgene: WDR78 H-InvDB: WDR78

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for WDR78 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for WDR78 gene:
    Search GeneIP for patents involving WDR78

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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