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DDX54 Gene

protein-coding   GIFtS: 53
GCID: GC12M113598

DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 54

  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
DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 541 2     ATP-Dependent RNA Helicase DDX542
ATP-Dependent RNA Helicase DP972 3     DEAD Box Helicase 97 KDa2
DEAD Box Protein 542 3     EC 3.6.4.133
DEAD Box RNA Helicase 97 KDa2 3     EC 3.6.18
DP972 5     

External Ids:    HGNC: 200841   Entrez Gene: 790392   Ensembl: ENSG000001230647   OMIM: 6116655   UniProtKB: Q8TDD13   

Export aliases for DDX54 gene to outside databases

Previous GC identifers: GC12M113377 GC12M112006 GC12M112057 GC12M113595 GC12M110607 GC12M113596


(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 DDX54 Gene:
This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif
Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes
involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial
splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this
family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The
nucleolar protein encoded by this gene interacts in a hormone-dependent manner with nuclear receptors, and
represses their transcriptional activity. Alternative splice variants that encode different isoforms have been
found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for DDX54 Gene:
DDX54 (DEAD (Asp-Glu-Ala-Asp) box polypeptide 54) is a protein-coding gene. Diseases associated with DDX54 include polymyositis, and scleroderma. GO annotations related to this gene include RNA binding and transcription corepressor activity.

UniProtKB/Swiss-Prot: DDX54_HUMAN, Q8TDD1
Function: Has RNA-dependent ATPase activity. Represses the transcriptional activity of nuclear receptors




(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_000012.12  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the DDX54 gene promoter:
         AML1a   Sp1   Pax-5   GCNF   HTF   Lmo2   LCR-F1   HNF-4alpha1   GCNF-1   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDDX54 promoter sequence
   Search Chromatin IP Primers for DDX54

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DDX54


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

Entrez Gene cytogenetic band: 12q24.13   Ensembl cytogenetic band:  12q24.13   HGNC cytogenetic band: 12q24.11

DDX54 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DDX54 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M113598:  view genomic region     (about GC identifiers)

Start:
113,594,978 bp from pter      End:
113,623,284 bp from pter
Size:
28,307 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DDX54_HUMAN, Q8TDD1 (See protein sequence)
Recommended Name: ATP-dependent RNA helicase DDX54  
Size: 881 amino acids; 98595 Da
Subunit: Interacts in a hormone-dependent manner with nuclear receptors
Sequence caution: Sequence=AAN59978.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of
unknown origin in the N-terminal part;
Secondary accessions: Q86YT8 Q9BRZ1
Alternative splicing: 2 isoforms:  Q8TDD1-1   Q8TDD1-2   

Explore the universe of human proteins at neXtProt for DDX54: NX_Q8TDD1

Explore proteomics data for DDX54 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for DDX54 (Q8TDD1) (see all 13)
     PTPIQRK  IATPGRL  QTVLFSA  IIATPGR 


    See DDX54 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001104792.1  NP_076977.3  

    ENSEMBL proteins: 
     ENSP00000323858   ENSP00000304072   ENSP00000447098   ENSP00000448189   ENSP00000448477  

    DDX54 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for DDX54
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    Novus Biologicals DDX54 Protein
    Novus Biologicals DDX54 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DDX54

    DDX54 Antibody Products:

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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:
    DDX: DEAD-boxes

    Selected InterPro protein domains (see all 7):
     IPR011545 DNA/RNA_helicase_DEAD/DEAH_N
     IPR012541 DBP10CT
     IPR000629 RNA-helicase_DEAD-box_CS
     IPR027417 P-loop_NTPase
     IPR014014 RNA_helicase_DEAD_Q_motif

    Graphical View of Domain Structure for InterPro Entry Q8TDD1

    ProtoNet protein and cluster: Q8TDD1

    2 Blocks protein domains:
    IPB000629 ATP-dependent helicase
    IPB012541 DBP10CT


    UniProtKB/Swiss-Prot: DDX54_HUMAN, Q8TDD1
    Similarity: Belongs to the DEAD box helicase family. DDX54/DBP10 subfamily
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain


    DDX54 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: DDX54_HUMAN, Q8TDD1
    Function: Has RNA-dependent ATPase activity. Represses the transcriptional activity of nuclear receptors
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.131

         Gene Ontology (GO): Selected molecular function terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding ----
    GO:0003714transcription corepressor activity IDA12466272
    GO:0003723RNA binding ----
    GO:0004004ATP-dependent RNA helicase activity IDA12466272
         
    DDX54 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DDX54:
     Decreased nuclei size in G2M 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DDX54
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    miRNA
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    miRTarBase miRNAs that target DDX54:
    hsa-mir-16-5p (MIRT031772), hsa-mir-192-5p (MIRT026599), hsa-mir-10a-5p (MIRT047683), hsa-mir-423-5p (MIRT038067), hsa-mir-744-5p (MIRT037544), hsa-mir-484 (MIRT042275)

    Block miRNA regulation of human, mouse, rat DDX54 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DDX54 (see all 12):
    hsa-miR-1266 hsa-miR-15a hsa-miR-497 hsa-miR-146a* hsa-miR-424 hsa-miR-593 hsa-miR-3127-5p hsa-miR-556-3p
    SwitchGear 3'UTR luciferase reporter plasmidDDX54 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DDX54

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    GenScript: all cDNA clones in your preferred vector (see all 2): DDX54 (NM_001111322)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DDX54
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DDX54

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDX54


    (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
    DDX54_HUMAN, Q8TDD1: Nucleus, nucleolus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA12466272
    GO:0005730nucleolus IDA12466272

    DDX54 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DDX54
    Interactions:

        Search GeneGlobe Interaction Network for DDX54

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

    Selected Interacting proteins for DDX54 (Q8TDD13 ENSP000003238584) via UniProtKB, MINT, STRING, and/or I2D (see all 243)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process IDA12466272
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0006396RNA processing IDA12466272
    GO:0016070RNA metabolic process IDA12466272

    DDX54 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 DDX54



    (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 DDX54 gene (2 alternative transcripts): 
    NM_001111322.1  NM_024072.3  

    Unigene Cluster for DDX54:

    DEAD (Asp-Glu-Ala-Asp) box polypeptide 54
    Hs.506861  [show with all ESTs]
    Unigene Representative Sequence: NM_001111322
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000314045(uc001tuq.4) ENST00000306014(uc001tup.3) ENST00000549271
    ENST00000551912 ENST00000546898 ENST00000550016 ENST00000548786 ENST00000551344
    ENST00000552375 ENST00000546869
    miRNA
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    Block miRNA regulation of human, mouse, rat DDX54 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DDX54 (see all 12):
    hsa-miR-1266 hsa-miR-15a hsa-miR-497 hsa-miR-146a* hsa-miR-424 hsa-miR-593 hsa-miR-3127-5p hsa-miR-556-3p
    SwitchGear 3'UTR luciferase reporter plasmidDDX54 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DDX54
    Clone
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    OriGene clones in human, mouse for DDX54 (see all 13)
    OriGene ORF clones in mouse, rat for DDX54
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): DDX54 (NM_001111322)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DDX54
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DDX54
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for DDX54
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DDX54
      QuantiTect SYBR Green Assays in human, mouse, rat DDX54
      QuantiFast Probe-based Assays in human, mouse, rat DDX54

    Additional mRNA sequence: 

    AF478457.1 AY148094.1 BC001132.2 BC001848.2 BC005848.2 

    16 DOTS entries:

    DT.99968102  DT.444686  DT.100817287  DT.95151688  DT.99964565  DT.100817285  DT.40131798  DT.95151690 
    DT.95286593  DT.92445030  DT.95151702  DT.121121610  DT.80100173  DT.95151687  DT.95151691  DT.95151701 

    Selected AceView cDNA sequences (see all 447):

    BU618640 BQ278840 AI479636 W23579 BU626198 AI814411 BM764758 AW088007 
    BM759128 BU169846 NM_024072 BM921111 AW575260 BI831913 BQ944095 AI824426 
    BM761209 BU619466 BM551919 BU616001 AI288978 BM826117 BQ645186 BF732881 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DDX54 (see all 17)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18a · 18b ·
    SP1:                          -                                                                                                                                 
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                  -     -   
    SP4:                          -                                                                                                                                 
    SP5:                          -           -                                                                                                                     

    ExUns: 18c ^ 19 ^ 20a · 20b · 20c · 20d ^ 21a · 21b ^ 22a · 22b · 22c ^ 23a · 23b · 23c · 23d · 23e
    SP1:                                                                                                
    SP2:                                                                                                
    SP3:  -                       -     -                 -     -                                       
    SP4:                                                                                                
    SP5:                                                                                                


    ECgene alternative splicing isoforms for DDX54

    (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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    DDX54 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGCACCGG
    DDX54 Expression
    About this image


    DDX54 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
    DDX54 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DDX54 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.506861
        Custom PCR Arrays for DDX54
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDX54

    (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 DDX54 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ddx541 , 5 DEAD (Asp-Glu-Ala-Asp) box polypeptide 541, 5 83.16(n)1
    85.65(a)1
      5 (60.63 cM)5
    719901  NM_028041.21  NP_082317.11 
     1206131305 
    chicken
    (Gallus gallus)
    Aves DDX541 DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 74.02(n)
    74.11(a)
      416992  XM_003642225.2  XP_003642273.2 
    lizard
    (Anolis carolinensis)
    Reptilia DDX546
    DEAD (Asp-Glu-Ala-Asp) box polypeptide 54
    69(a)
    1 ↔ 1
    GL343338.1(793128-806780)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.29612 Transcribed sequence with moderate similarity to protein more 76.72(n)    CF223894.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ddx542 DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 76.77(n)   286777  AY099535.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG323441 CG32344 54.48(n)
    48.06(a)
      326208  NM_138184.5  NP_612028.4 
    worm
    (Caenorhabditis elegans)
    Secernentea Y94H6A.51 Y94H6A.5 49.74(n)
    46.31(a)
      177054  NM_171294.4  NP_741347.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DBP10(YDL031W)4
    DBP101
    Putative ATP-dependent RNA helicase of the DEAD-box more4
    DBP101
    46.42(n)1
    41.75(a)1
      4(394217-397204)4
    8515301, 4  NP_010253.21  NP_010253.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G770301 AT1G77030 50.13(n)
    47.84(a)
      844039  NM_106354.5  NP_177829.5 
    rice
    (Oryza sativa)
    Liliopsida Os.212872 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 72.71(n)    AK070406.1 


    ENSEMBL Gene Tree for DDX54 (if available)
    TreeFam Gene Tree for DDX54 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DDX54 gene
    Selected SIMAP similar genes for DDX54 using alignment to 4 protein entries:     DDX54_HUMAN (see all proteins) (see all similar genes):
    DDX46    DDX10    DDX39    DDX39B    E4-DBP    DDX56
    DDX31    DDX59    DDX39A    DDX27    DDX47    MST162
    DDX18    DDX20    DDX4    DDX41    DDX42    DDX50

    DDX54 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 DDX54 (see all 596)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs759627361,2
    C--113597616(+) TAGTTC/TTCCGG 2 -- int13Minor allele frequency- T:0.19CSA WA EA 239
    rs1848962641,2
    C--113597768(+) GCCTCA/GCAGGA 2 -- int10--------
    rs1381086501,2
    C--113597827(+) CAAAGC/TCCACA 2 -- int10--------
    rs1882429371,2
    --113597861(+) CTGCAC/TGCCCA 2 -- int10--------
    rs1436579721,2
    --113597862(+) TGCACG/TCCCAC 2 -- int10--------
    rs1472146911,2
    --113597872(+) CTGCAC/GGGCAA 2 -- int10--------
    rs1810757381,2
    --113598033(+) ATGCAC/TGCAGG 2 -- int10--------
    rs792175701,2
    F--113598064(+) AGGCAG/ATGACC 2 -- int13Minor allele frequency- A:0.05CSA EA 123
    rs1855834361,2
    --113598155(+) CCCCAC/GGGAAG 2 -- int10--------
    rs1918245391,2
    --113598207(+) AGTCAC/TAGCCC 2 -- int10--------

    HapMap Linkage Disequilibrium report for DDX54 (113594978 - 113623284 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for DDX54:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv996809CNV Deletion20482838
    nsv899527CNV Loss21882294
    nsv899528CNV Loss21882294
    nsv899530CNV Gain21882294
    nsv519540CNV Gain+Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DDX54
    DNA2.0 Custom Variant and Variant Library Synthesis for DDX54

    (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: 611665    OMIM disorders: --

    7 diseases for DDX54:    
    About MalaCards
    polymyositis    scleroderma    multiple myeloma    myeloma
    malaria    cerebritis    breast cancer


    DDX54 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: DDX54 (1 document)

    Export disorders for DDX54 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 DDX54 gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with DDX54)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Regulation of nuclear receptor transcriptional activity by a novel DEAD box RNA helicase (DP97). (PubMed id 12466272)1, 2, 3, 9 Rajendran R.R....Katzenellenbogen B.S. (J. Biol. Chem. 2003)
    2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 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. Functional proteomic analysis of human nucleolus. (PubMed id 12429849)1, 2 Scherl A.... Diaz J.-J. (Mol. Biol. Cell 2002)
    5. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    6. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
    7. Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network. (PubMed id 23149075)1 Aslibekyan S....Arnett D.K. (Nutr Metab Cardiovasc Dis 2013)
    8. A DEAD-box RNA helicase Ddx54 protein in oligodendrocytes is indispensable for myelination in the central nervous system. (PubMed id 23239230)1 Zhan R....Aiso S. (J. Neurosci. Res. 2013)
    9. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    10. Functional proteomics establishes the interaction of SIRT7 with chromatin remodeling complexes and expands its role in regulation of RNA polymerase I transcription. (PubMed id 22586326)1 Tsai Y.C.... Cristea I.M. (Mol. Cell. Proteomics 2012)

    (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: 79039 HGNC: 20084 AceView: DDX54 Ensembl:ENSG00000123064 euGenes: HUgn79039
    ECgene: DDX54 H-InvDB: DDX54

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for DDX54 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 DDX54 gene:
    Search GeneIP for patents involving DDX54

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



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