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DPH7 Gene

protein-coding   GIFtS: 40
GCID: GC09M140450

Diphthamide Biosynthesis 7

(Previous names: chromosome 9 open reading frame 112, WD repeat domain 85)
(Previous symbols: C9orf112, WDR85)
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(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
Diphthamide Biosynthesis 71 2     WD Repeat-Containing Protein 852 3
WDR851 2 3 5     Chromosome 9 Open Reading Frame 1121
C9orf1121 2 3     RRT22
WD Repeat Domain 851 2     Diphthamide Biosynthesis Protein 72

External Ids:    HGNC: 251991   Entrez Gene: 927152   Ensembl: ENSG000001483997   OMIM: 6132105   UniProtKB: Q9BTV63   

Export aliases for DPH7 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DPH7 Gene:
WDR85 is a WD repeat-containing protein that plays a role in the first step of diphthamide biosynthesis (Carette
et al., 2009 (PubMed 19965467)).(supplied by OMIM, Feb 2010)

GeneCards Summary for DPH7 Gene:
DPH7 (diphthamide biosynthesis 7) is a protein-coding gene.

UniProtKB/Swiss-Prot: DPH7_HUMAN, Q9BTV6
Function: Plays a role in the diphthamide biosynthesis, a post-translational modification of histidine which
occurs in translation elongation factor 2 (EEF2) which can be ADP-ribosylated by diphtheria toxin and by
Pseudomonas exotoxin A (Eta). May have a regulatory role, promoting dissociation of diphthine synthase DPH5 from
elongation factor 2




(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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Regulatory elements:
   Search for regulatory transcription factor binding sites for DPH7
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDPH7 promoter sequence
   Search Chromatin IP Primers for DPH7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DPH7


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

Entrez Gene cytogenetic band: 9q34.3   Ensembl cytogenetic band:  9q34.3   HGNC cytogenetic band: 9q34.3

DPH7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DPH7 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M140450:  view genomic region     (about GC identifiers)

Start:
140,449,356 bp from pter      End:
140,473,387 bp from pter
Size:
24,032 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: DPH7_HUMAN, Q9BTV6 (See protein sequence)
Recommended Name: Diphthamide biosynthesis protein 7  
Size: 452 amino acids; 50575 Da
Secondary accessions: Q96AB7

Explore the universe of human proteins at neXtProt for DPH7: NX_Q9BTV6

Explore proteomics data for DPH7 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys230
  • Modification sites at PhosphoSitePlus

  • See DPH7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_620133.1  
    ENSEMBL proteins: 
     ENSP00000277540  

    DPH7 Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for DPH7 

     
    antibodies-online proteins for DPH7 (4 products) 

     
    antibodies-online peptides for DPH7

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    Search eBioscience for ELISAs for DPH7 
    antibodies-online kits for DPH7 (4 products) 


    (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

    4 InterPro protein domains:
     IPR019775 WD40_repeat_CS
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q9BTV6

    ProtoNet protein and cluster: Q9BTV6

    UniProtKB/Swiss-Prot: DPH7_HUMAN, Q9BTV6
    Similarity: Belongs to the DPH7 family
    Similarity: Contains 3 WD repeats


    Find genes that share domains with DPH7           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DPH7_HUMAN, Q9BTV6
    Function: Plays a role in the diphthamide biosynthesis, a post-translational modification of histidine which
    occurs in translation elongation factor 2 (EEF2) which can be ADP-ribosylated by diphtheria toxin and by
    Pseudomonas exotoxin A (Eta). May have a regulatory role, promoting dissociation of diphthine synthase DPH5 from
    elongation factor 2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with DPH7           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for DPH7

    miRNA
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    miRTarBase miRNAs that target DPH7:
    hsa-mir-615-3p (MIRT039702), hsa-mir-25-3p (MIRT050334)

    Block miRNA regulation of human, mouse, rat DPH7 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate DPH7
    SwitchGear 3'UTR luciferase reporter plasmidDPH7 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DPH7

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    (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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    UniProtKB/Swiss-Prot: DPH7_HUMAN, Q9BTV6
    Pathway: Protein modification; peptidyl-diphthamide biosynthesis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DPH7
    Interactions:

        Search GeneGlobe Interaction Network for DPH7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for DPH7 (Q9BTV63 ENSP000002775404) via UniProtKB, MINT, STRING, and/or I2D (see all 13)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAD2L1Q132573I2D: score=5 
    WDR6ENSP000003788574STRING: ENSP00000378857
    TSG101ENSP000002519684STRING: ENSP00000251968
    UEVLDENSP000003795004STRING: ENSP00000379500
    CHMP4AENSP000003242054STRING: ENSP00000324205
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0017183peptidyl-diphthamide biosynthetic process from peptidyl-histidine IMP19965467

    Find genes that share ontologies with DPH7           About GenesLikeMe



    (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 DPH7



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DPH7 gene: 
    NM_138778.2  

    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000467243(uc004cnj.1) ENST00000479650(uc004cnm.1) ENST00000277540(uc004cnk.1)
    ENST00000497237(uc010ncl.1) ENST00000475100 ENST00000472113(uc022bql.1 uc022bqk.1)
    ENST00000485189 ENST00000467768 ENST00000477690 ENST00000470855 ENST00000481839
    ENST00000476303 ENST00000460572 ENST00000491359
    miRNA
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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DPH7
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    Primer
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    OriGene qPCR primer pairs and template standards for DPH7
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      QuantiTect SYBR Green Assays in human, mouse, rat DPH7
      QuantiFast Probe-based Assays in human, mouse, rat DPH7

    Selected AceView cDNA sequences (see all 198):

    Z45478 BM794364 AA911359 BM912188 BI766924 CA418559 BC017335 BX098249 
    BM975452 AA738401 BQ930021 AI954188 AI049519 AI590942 BI467399 CB306176 
    BQ962551 CA430000 BF881947 BU681839 BM824266 F11484 BI830879 AI632359 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for DPH7    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11
    SP1:                                                                        
    SP2:        -     -                 -                                       
    SP3:                                                                        


    ECgene alternative splicing isoforms for DPH7

    (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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    See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: --

    DPH7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DPH7 Protein Expression
        Custom PCR Arrays for DPH7
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DPH7

    (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 DPH7 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Wdr855
    Dph71
    WD repeat domain 855
    diphthamine biosynethesis 71
    74.51(n)1
    68.95(a)1
      2 (16.87 cM)5
    672281  NM_026044.31  NP_080320.11 
     249624005 
    chicken
    (Gallus gallus)
    Aves WDR851 WD repeat domain 85 60.75(n)
    54.76(a)
      417262  XM_415537.4  XP_415537.4 
    lizard
    (Anolis carolinensis)
    Reptilia DPH76
    diphthamide biosynthesis 7
    51(a)
    1 ↔ 1
    AAWZ02039217(862-8359)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia wdr851 WD repeat domain 85 57.04(n)
    50.37(a)
      100485354  XM_002941977.2  XP_002942023.2 
    zebrafish
    (Danio rerio)
    Actinopterygii dph71 diphthamide biosynthesis 7 56.33(n)
    53.61(a)
      564032  NM_001082839.1  NP_001076308.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG31841 CG3184 48.14(n)
    41.53(a)
      31608  NM_132113.3  NP_572341.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y43F4B.96
    Protein Y43F4B.9, isoform a
    25(a)
    1 ↔ 1
    III(13315088-13318602) WBGene00012806
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RRT2(YBR246W)4 Putative protein of unknown function; non-essential more   --   2(711591-712754) 852548  NP_009805.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G630101 AT5G63010 46.21(n)
    39.32(a)
      836421  NM_125695.2  NP_201106.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g05079001 Os04g0507900 51.14(n)
    41.78(a)
      4336350  NM_001059801.1  NP_001053266.1 


    ENSEMBL Gene Tree for DPH7 (if available)
    TreeFam Gene Tree for DPH7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DPH7 gene
    1 SIMAP similar gene for DPH7 using alignment to 1 protein entry:     DPH7_HUMAN:
    WDR85

    Find genes that share paralogs with DPH7           About GenesLikeMe



    (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 DPH7 (see all 597)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1939207851,2
    Cuntested1109923035(-) CCTCAA/GCTGCC 2 N S mis10--------
    rs763838941,2
    C,F--109913037(+) TATACA/TATTTT 1 -- ds50011Minor allele frequency- T:0.09WA 118
    rs1847451411,2
    C--109913115(+) CTGGGC/TTCAAC 1 -- ds50010--------
    rs1896688611,2
    --109913131(+) TCCTGA/CCTCAG 1 -- ds50010--------
    rs1164168931,2
    C,F--109913156(+) GGGACC/GATAGG 1 -- ds50011Minor allele frequency- G:0.03WA 118
    rs764842851,2
    C,F--109913278(+) GCCCCT/CTCCAA 1 -- ds50011Minor allele frequency- C:0.06WA 118
    rs1172844951,2
    --109913299(+) TTACAG/AGCCAC 1 -- ds50011Minor allele frequency- A:0.01EA 120
    rs1491723971,2
    C--109913362(+) AGCTGC/TGGGAT 1 -- ds50010--------
    rs1432847761,2
    --109913415(+) CTCAAG/TCTATA 1 -- ds50010--------
    rs1808110911,2
    --109913433(+) TTCTGA/GTGCCA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for DPH7 (140449356 - 140473387 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for DPH7: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DPH7
    DNA2.0 Custom Variant and Variant Library Synthesis for DPH7

    (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: 613210    OMIM disorders: --


    Find genes that share disorders with DPH7           About GenesLikeMe


    Export disorders for DPH7 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 DPH7 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with DPH7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A modified form of diphthamide causes immunotoxin resistance in a lymphoma cell line with a deletion of the WDR85 gene. (PubMed id 23486472)1, 2, 3 Wei H....Pastan I. (J. Biol. Chem. 2013)
    2. Haploid genetic screens in human cells identify host factors used by pathogens. (PubMed id 19965467)1, 2 Carette J.E....Brummelkamp T.R. (Science 2009)
    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. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    6. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    7. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    8. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    10. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)

    (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: 92715 HGNC: 25199 AceView: C9orf112 Ensembl:ENSG00000148399 euGenes: HUgn92715
    ECgene: DPH7 H-InvDB: DPH7

    (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 DPH7 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 DPH7 gene:
    Search GeneIP for patents involving DPH7

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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 genOway)
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