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DPH1 Gene

protein-coding   GIFtS: 54
GCID: GC17P001933

Diphthamide Biosynthesis 1

(Previous names: diptheria toxin resistance protein required for diphthamide...)
(Previous symbols: DPH2L, DPH2L1)
  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
Diphthamide Biosynthesis 11 2     Diptheria Toxin Resistance Protein Required For Diphthamide
Biosynthesis-Like 1 (S. Cerevisiae)1
DPH2L11 2 3 5     DPH-Like 1 (S. Cerevisiae)1
DPH2L1 2 3     DPH1 Homolog (S. Cerevisiae)1
OVCA12 3 5     Candidate Tumor Suppressor In Ovarian Cancer 12
Ovarian Tumor Suppressor Candidate 11 2     Diphthamide Biosynthesis Protein 12
Diphthamide Biosynthesis Protein 2 Homolog-Like 12 3     Diptheria Toxin Resistance Protein Required For Diphthamide Biosynthesis
(Saccharomyces)-Like 12
Ovarian Cancer-Associated Gene 1 Protein2 3     Diptheria Toxin Resistance Protein Required For Diphthamide
Biosynthesis-Like 12
DPH-Like 12 3     HsDph13
DPH1 Homolog2 3     Diphthamide Biosynthesis Protein 2-Like3
DPH2-Like 12 3     

External Ids:    HGNC: 30031   Entrez Gene: 18012   Ensembl: ENSG000001089637   OMIM: 6035275   UniProtKB: Q9BZG83   

Export aliases for DPH1 gene to outside databases

Previous GC identifer: GC17P001881


(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 DPH1 Gene:
Diphthamide is a unique posttranslationally modified histidine found only in translation elongation factor-2
(EEF2; MIM 130610). This modification is conserved from archaebacteria to humans and serves as the target for
ADP-ribosylation and inactivation of EEF2 by diphtheria toxin (DT) and Pseudomonas exotoxin A. DPH1 is 1 of
several enzymes involved in synthesis of diphthamide in EEF2 (Liu et al., 2004 (PubMed 15485916)).(supplied by
OMIM, Mar 2008)

GeneCards Summary for DPH1 Gene:
DPH1 (diphthamide biosynthesis 1) is a protein-coding gene. Diseases associated with DPH1 include miller-dieker syndrome, and ovarian cancer.

UniProtKB/Swiss-Prot: DPH1_HUMAN, Q9BZG8
Function: Required for the first step in the synthesis of diphthamide, a post-translational modification of
histidine which occurs in translation elongation factor 2 (EEF2). When overexpressed, suppresses colony formation
ability and growth rate of ovarian cancer cells. Acts also as a tumor suppressor in lung and breast cancers (By
similarity). Plays a role in embryonic growth, organogenesis and postnatal survival (By similarity)

Gene Wiki entry for DPH1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NC_018928.2  NT_010718.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the DPH1 gene promoter:
         Max1   NF-1   NCX/Ncx   SREBP-1c   LUN-1   GATA-2   SREBP-1b   SREBP-1a   Chx10   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): DPH1 promoter sequence
   Search Chromatin IP Primers for DPH1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DPH1


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

Entrez Gene cytogenetic band: 17p13.3   Ensembl cytogenetic band:  17p13.3   HGNC cytogenetic band: 17p13.3

DPH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DPH1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P001933:  view genomic region     (about GC identifiers)

Start:
1,933,404 bp from pter      End:
1,946,725 bp from pter
Size:
13,322 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: DPH1_HUMAN, Q9BZG8 (See protein sequence)
Recommended Name: Diphthamide biosynthesis protein 1  
Size: 443 amino acids; 48805 Da
Subunit: Interacts with DPH2 (By similarity). Interacts with RBM8A
Caution: It is uncertain whether Met-1 or Met-6 is the initiator
Secondary accessions: D3DTI3 Q16439 Q4VBA2 Q9BTW7 Q9UCY0
Alternative splicing: 3 isoforms:  Q9BZG8-1   Q9BZG8-2   Q9BZG8-3   

Explore the universe of human proteins at neXtProt for DPH1: NX_Q9BZG8

Explore proteomics data for DPH1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys64, Lys261, Lys288
  • Modification sites at PhosphoSitePlus

  • See DPH1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001374.3  
    ENSEMBL proteins: 
     ENSP00000263083   ENSP00000460431   ENSP00000458838   ENSP00000458726   ENSP00000467936  
     ENSP00000460813   ENSP00000476070   ENSP00000476598   ENSP00000477033  

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    Cloud-Clone Corp. CLIAs for DPH1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR016435 DPH1_eu/DPH2_arc
     IPR002728 DPH1/DPH2

    Graphical View of Domain Structure for InterPro Entry Q9BZG8

    ProtoNet protein and cluster: Q9BZG8

    1 Blocks protein domain: IPB002728 Diphthamide synthesis DPH2 protein

    UniProtKB/Swiss-Prot: DPH1_HUMAN, Q9BZG8
    Similarity: Belongs to the DPH1/DPH2 family. DPH1 subfamily


    DPH1 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: DPH1_HUMAN, Q9BZG8
    Function: Required for the first step in the synthesis of diphthamide, a post-translational modification of
    histidine which occurs in translation elongation factor 2 (EEF2). When overexpressed, suppresses colony formation
    ability and growth rate of ovarian cancer cells. Acts also as a tumor suppressor in lung and breast cancers (By
    similarity). Plays a role in embryonic growth, organogenesis and postnatal survival (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    DPH1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DPH1:
     Synthetic lethal with Ras 

         Selected MGI mutant phenotypes (inferred from 2 alleles(MGI details for Dph1) (see all 16):
     cellular  craniofacial  digestive/alimentary  embryogenesis  growth/size/body 
     hematopoietic system  homeostasis/metabolism  limbs/digits/tail  liver/biliary system  mortality/aging 
     nervous system  pigmentation  respiratory system  skeleton  tumorigenesis 

    DPH1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for DPH1: Dph1tm2Bhr Dph1tm1Bhr

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DPH1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DPH1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DPH1

    miRNA
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    miRTarBase miRNAs that target DPH1:
    hsa-mir-193b-3p (MIRT041212), hsa-mir-197-3p (MIRT004180), hsa-mir-106b-3p (MIRT038600)

    Block miRNA regulation of human, mouse, rat DPH1 using miScript Target Protectors
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    SwitchGear 3'UTR luciferase reporter plasmidDPH1 3' UTR sequence
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    GenScript: all cDNA clones in your preferred vector: DPH1 (NM_001383)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DPH1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DPH1


    (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
    DPH1_HUMAN, Q9BZG8: Nucleus. Cytoplasm. Note=Punctate, primarily perinuclear localization
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--

    DPH1 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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    UniProtKB/Swiss-Prot: DPH1_HUMAN, Q9BZG8
    Pathway: Protein modification; peptidyl-diphthamide biosynthesis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DPH1
    Interactions:

        Search GeneGlobe Interaction Network for DPH1

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

    Selected Interacting proteins for DPH1 (Q9BZG83 ENSP000002630834) via UniProtKB, MINT, STRING, and/or I2D (see all 61)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583I2D: score=1 
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    EEF2P136393, ENSP000003079404I2D: score=6 STRING: ENSP00000307940
    HSPA5P110213, ENSP000003241734I2D: score=4 STRING: ENSP00000324173
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006412translation TAS8603384
    GO:0008283cell proliferation IEA--
    GO:0017183peptidyl-diphthamide biosynthetic process from peptidyl-histidine IEA--

    DPH1 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 DPH1

    3 Novoseek inferred chemical compound relationships for DPH1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    diphthamide 96.9 8 15485916 (2), 11054663 (1), 8603384 (1), 8564979 (1) (see all 5)
    n-(4-hydroxyphenyl)retinamide 74.3 6 11979432 (2), 11054663 (1)
    retinoic acid 33.3 6 11979432 (2), 11054663 (1)



    DPH1 for compounds           About GeneDecksing



    (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 DPH1 gene: 
    NM_001383.3  

    Unigene Cluster for DPH1:

    DPH1 homolog (S. cerevisiae)
    Hs.513856  [show with all ESTs]
    Unigene Representative Sequence: AK090530
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263083(uc002fts.3 uc002ftt.3 uc010cjx.3 uc010vqs.2)
    ENST00000575667 ENST00000571418 ENST00000572819 ENST00000576129 ENST00000570477
    ENST00000570833 ENST00000576891 ENST00000572214 ENST00000570867(uc002ftv.3)
    ENST00000575998 ENST00000571710(uc002ftw.3) ENST00000572684 ENST00000607788
    ENST00000572248 ENST00000575162 ENST00000263084(uc002ftx.3)
    miRNA
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    GenScript: all cDNA clones in your preferred vector: DPH1 (NM_001383)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DPH1
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    OriGene qPCR primer pairs and template standards for DPH1
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    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat DPH1
      QuantiTect SYBR Green Assays in human, mouse, rat DPH1
      QuantiFast Probe-based Assays in human, mouse, rat DPH1

    Additional mRNA sequence: 

    AF073528.1 AF321875.1 AF321876.1 AK090530.1 AK297947.1 AK314015.1 BC003099.1 BC040696.2 
    BC041170.1 BC096086.1 BC096087.1 BC096088.1 BC096089.1 BT019878.1 S81752.1 U34880.1 

    17 DOTS entries:

    DT.453769  DT.91765825  DT.95158956  DT.95349153  DT.95158951  DT.100807851  DT.120980892  DT.97836300 
    DT.100738197  DT.100807846  DT.91765824  DT.120980964  DT.421591  DT.100807850  DT.91765823  DT.120980989 
    DT.95158962 

    Selected AceView cDNA sequences (see all 384):

    BX110749 BM809228 BM558769 AA595088 CD674155 N52176 BI771050 AL520400 
    BG574155 BQ575566 CA868138 BC041170 AI357934 CA430374 AI369646 BU557900 
    BQ941225 BM424280 AI131155 CF132220 BF514965 AI580868 CR590443 BE889801 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DPH1 (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c · 8d ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c ^
    SP1:                                            -     -                       -     -     -     -                       -           -           -               
    SP2:                                      -     -     -                       -     -     -     -                       -           -           -               
    SP3:                                            -     -                                                                                                         
    SP4:                                                                          -     -     -     -                                   -           -               
    SP5:                                                                                                                    -           -                           

    ExUns: 13 ^ 14 ^ 15a · 15b · 15c · 15d · 15e
    SP1:        -                                 
    SP2:        -                                 
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for DPH1

    (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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    DPH1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGACTGCCA
    DPH1 Expression
    About this image

    DPH1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DPH1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.513856

    UniProtKB/Swiss-Prot: DPH1_HUMAN, Q9BZG8
    Tissue specificity: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen,
    thymus, mammary gland, colon, small intestine, testis and ovary. Reduced expression in primary breast and ovarian
    tumors

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DPH1

    (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 DPH1 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dph11 , 5 DPH1 homolog (S. cerevisiae)1, 5 84.63(n)1
    86.3(a)1
      11 (45.76 cM)5
    1169051  NM_144491.21  NP_652762.21 
     751776435 
    chicken
    (Gallus gallus)
    Aves DPH11 DPH1 homolog (S. cerevisiae) 73.78(n)
    73.87(a)
      417564  NM_001030716.1  NP_001025887.1 
    lizard
    (Anolis carolinensis)
    Reptilia DPH16
    diphthamide biosynthesis 1
    66(a)
    1 ↔ 1
    GL344600.1(21-11327)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.106302 Xenopus laevis transcribed sequence with weak similarity more 79.01(n)    48036208 
    zebrafish
    (Danio rerio)
    Actinopterygii dph11 DPH1 homolog (S. cerevisiae) 69.77(n)
    73.63(a)
      550559  NM_001017861.1  NP_001017861.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG116521 CG11652 60.93(n)
    61.95(a)
      39317  NM_140239.4  NP_648496.1 
    worm
    (Caenorhabditis elegans)
    Secernentea dph-11 dph-1 54.88(n)
    55.85(a)
      175475  NM_065349.4  NP_497750.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DPH1(YIL103W)4
    DPH11
    Protein required, along with Dph2p, Kti11p, Jjj3p, more4
    DPH11
    53.89(n)1
    54.17(a)1
      9(171751-173028)4
    8547031, 4  NP_012163.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G620301 AT5G62030 55.13(n)
    54.84(a)
      836323  NM_125596.3  NP_201009.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g08156001 Os02g0815600 56.35(n)
    52.76(a)
      4331131  NM_001055039.1  NP_001048504.1 


    ENSEMBL Gene Tree for DPH1 (if available)
    TreeFam Gene Tree for DPH1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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 DPH1 (see all 287)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs353948231,2,4
    Ovarian cancer4--see VAR_0367042 mis40--------
    VAR_0367054
    Ovarian cancer4--see VAR_0367052 S R mis40--------
    VAR_0367024
    Ovarian cancer4--see VAR_0367022 A V mis40--------
    VAR_0367034
    Ovarian cancer4--see VAR_0367032 A D mis40--------
    rs766625641,2
    F--1931462(+) TTCTTG/TTCAGG 1 -- us2k11Minor allele frequency- T:0.01WA 118
    rs80787121,2
    C,F,A--1931576(+) CACGGA/GGTCTT 1 -- us2k110Minor allele frequency- G:0.28NA WA CSA EA 371
    rs99113681,2
    C,F,A,H--1931655(+) GCCAGG/AGCAGC 1 -- us2k114Minor allele frequency- A:0.30NS EA NA WA 786
    rs1441103991,2
    --1931681(+) GGTGCA/GGGGCA 1 -- us2k10--------
    rs72077491,2
    C,F,A,H--1931702(+) AGGGAT/GGGGAC 1 -- us2k121Minor allele frequency- G:0.27NS EA NA WA CSA 2346
    rs1911930471,2
    --1931743(+) GAGGGA/CAAGGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for DPH1 (1933404 - 1946725 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for DPH1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2715489CNV Deletion23290073
    esv2715488CNV Deletion23290073
    esv33335CNV Loss17666407
    dgv3035n71CNV Loss21882294
    nsv907523CNV Loss21882294
    dgv3034n71CNV Loss21882294
    esv23494CNV Loss19812545
    nsv907526CNV Loss21882294
    nsv827857CNV Gain20364138

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DPH1
    DNA2.0 Custom Variant and Variant Library Synthesis for DPH1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603527    OMIM disorders: --

    9 diseases for DPH1:    
    About MalaCards
    miller-dieker syndrome    ovarian cancer    diphtheria    sotos syndrome
    lissencephaly    esophageal squamous cell carcinoma    esophagitis    squamous cell carcinoma
    breast cancer

    1 disease from the University of Copenhagen DISEASES database for DPH1:
    Diphtheria

    DPH1 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for DPH1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    allelic loss 73.6 1 11979432 (1)
    ovarian cancer 50.6 2 11527402 (1), 16386221 (1)
    tumors 31.6 11 11979432 (2), 11013075 (2), 15485916 (1), 9782084 (1) (see all 7)
    cancer 8.67 3 11054663 (1), 11527402 (1), 16386221 (1)


    Export disorders for DPH1 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 DPH1 gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with DPH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A cDNA from the ovarian cancer critical region of deletion on chromosome 17p13.3. (PubMed id 8603384)1, 2, 3, 9 Phillips N.J.... Deaven L.L. (Cancer Lett. 1996)
    2. Identification of the proteins required for biosynthesis of diphthamide, the target of bacterial ADP-ribosylating toxins on translation elongation factor 2. (PubMed id 15485916)1, 3, 9 Liu S....Leppla S.H. (Mol. Cell. Biol. 2004)
    3. Identification and structural analysis of human RBM8A and RBM8B: two highly conserved RNA-binding motif proteins that interact with OVCA1, a candidate tumor suppressor. (PubMed id 11013075)1, 2, 9 Salicioni A.M.... Godwin A.K. (Genomics 2000)
    4. Diphthamide modification on eukaryotic elongation factor 2 is needed to assure fidelity of mRNA translation and mouse development. (PubMed id 22869748)1, 3 Liu S....Leppla S.H. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    5. Expression of OVCA1, a candidate tumor suppressor, is reduced in tumors and inhibits growth of ovarian cancer cells. (PubMed id 10519411)1, 2 Bruening W....Godwin A.K. (Cancer Res. 1999)
    6. Identification of two candidate tumor suppressor genes on chromosome 17p13.3. (PubMed id 8616839)1, 2 Schultz D.C....Godwin A.K. (Cancer Res. 1996)
    7. Cloning, structure, and expression of the mouse Ovca1 gene. (PubMed id 11527402)1, 9 Chen C.M. and Behringer R.R. (Biochem. Biophys. Res. Commun. 2001)
    8. Methylation of the DPH1 promoter causes immunotoxin resistance in acute lymphoblastic leukemia cell line KOPN-8. (PubMed id 24070652)1 Hu X....Pastan I. (Leuk. Res. 2013)
    9. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (J. Cell. Sci. 2012)
    10. MMS19 assembles iron-sulfur proteins required for DNA metabolism and genomic integrity. (PubMed id 22678362)1 Stehling O.... Lill R. (Science 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 1801 HGNC: 3003 AceView: DPH2L1 Ensembl:ENSG00000108963 euGenes: HUgn1801
    ECgene: DPH1 H-InvDB: DPH1

    (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 DPH1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DPH1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DPH1 gene:
    Search GeneIP for patents involving DPH1

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



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