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DDX12P Gene

pseudogene   GIFtS: 36
GCID: GC12M010476

DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 12, Pseudogene

(Previous names: DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12 (S.cerevisiae...)
(Previous symbol: DDX12)
  Search for DDX12P
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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 4

Aliases
DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 12, Pseudogene1 2     CHL1-Related Protein 23
DDX121 2 3 5     DEAD/H Box Protein 123
CHLR22 3 5     hCHLR23
CHL1-Like Helicase Homolog 2 (S. Cerevisiae)1     EC 3.6.18
DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 121     EC 3.6.1.238
DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 12 (S.Cerevisiae CHL1-Like
Helicase)1
     EC 3.6.1.78
EC 3.6.4.133     

External Ids:    HGNC: 27371   Entrez Gene: 4400812   Ensembl: ENSG000002148267   OMIM: 6011515   UniProtKB: Q927713   
ORGUL members:    fRNAdb10:FR407506      
H-InvDB12:HIT000389586    
NCBI13:BC128040    
NONCODE14:n409235 n346171 n346282 n346427    

Export aliases for DDX12P gene to outside databases

Previous GC identifers: GC12M009571 GC12M009572 GC12M009720 GC12M010042 GC12M010237


(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 DDX12P Gene:
DDX12P (DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene) is a pseudogene, and is affiliated with the lncRNA class. GO annotations related to this gene include ATP-dependent DNA helicase activity and RNA binding.

UniProtKB/Swiss-Prot: DDX12_HUMAN, Q92771
Function: DNA helicase involved in cellular proliferation. Probably required for maintaining the chromosome
segregation (By similarity)



fRNAdb sequence ontology for DDX12P:
ncRNA - An RNA transcript that does not encode for a protein rather the RNA molecule is the gene product.

View fRNAdb secondary structures for DDX12P

(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_009714.18  
Regulatory elements:
   Search for regulatory transcription factor binding sites for DDX12P
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for DDX12P

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DDX12P


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

Entrez Gene cytogenetic band: 12p13.31   Ensembl cytogenetic band:  12p13.31   HGNC cytogenetic band: 12p13.31

DDX12P Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DDX12P gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M010476:  view genomic region     (about GC identifiers)

Start:
9,570,287 bp from pter      End:
9,600,825 bp from pter
Size:
30,539 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for DDX12P

(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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: DDX12_HUMAN, Q92771 (See protein sequence)
Recommended Name: Putative ATP-dependent RNA helicase DDX12  
Size: 950 amino acids; 106006 Da
Caution: Could be the product of a pseudogene

Explore the universe of human proteins at neXtProt for DDX12P: NX_Q92771

Explore proteomics data for DDX12P at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for DDX12P (Q92771) (see all 29)
     SRTHSQL  IGRAIRH  YGKRLKA  EAGKIGI 


    See DDX12P Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


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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):
     IPR014013 Helic_SF1/SF2_ATP-bd_DinG/Rad3
     IPR010614 DEAD_2
     IPR027417 P-loop_NTPase
     IPR006554 Helicase-like_DEXD_c2
     IPR006555 ATP-dep_Helicase_C

    Graphical View of Domain Structure for InterPro Entry Q92771

    ProtoNet protein and cluster: Q92771

    1 Blocks protein domain: IPB006555 Helicase c2

    UniProtKB/Swiss-Prot: DDX12_HUMAN, Q92771
    Similarity: Belongs to the DEAD box helicase family. DEAH subfamily. DDX11/CHL1 sub-subfamily
    Similarity: Contains 1 helicase ATP-binding domain


    Find genes that share domains with DDX12P           About GenesLikeMe


    (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, 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: DDX12_HUMAN, Q92771
    Function: DNA helicase involved in cellular proliferation. Probably required for maintaining the chromosome
    segregation (By similarity)
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.131 EC 3.6.1.72 EC 3.6.1.232

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003723RNA binding IEA--
    GO:0004003ATP-dependent DNA helicase activity IEA--
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with DDX12P           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DDX12P
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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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    Subcellular locations from UniProtKB/Swiss-Prot
    DDX12_HUMAN, Q92771: Nucleus (By similarity)

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    Find genes that share ontologies with DDX12P           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DDX12P About    
    See pathways by source

    SuperPathContained pathways About
    1Unfolded Protein Response
    Unfolded Protein Response0.61
    Activation of Chaperone Genes by XBP1(S)0.59
    Activation of Chaperones by IRE1alpha0.61
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DDX12P
    Interactions:

        Search GeneGlobe Interaction Network for DDX12P

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007049cell cycle IEA--

    Find genes that share ontologies with DDX12P           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 DDX12P (DDX12)



    (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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    1 fRNAdb Secondary structure:


    REFSEQ mRNAs for DDX12P gene: 
    NM_004400.1  

    Unigene Cluster for DDX12P:

    DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene
    Hs.504688  [show with all ESTs]
    Unigene Representative Sequence: BC065494
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000432996 ENST00000290818(uc001qvx.4 uc001qvy.1 uc021qut.1 uc009zgq.1)

    miRNA
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    Inhib. RNA
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    Primer
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      Search QuantiFast Probe-based Assays in human, mouse, rat DDX12P

    Additional mRNA sequence: 

    BC035635.1 BC065494.1 DQ786301.1 

    16 DOTS entries:

    DT.100729357  DT.91823285  DT.100645301  DT.121644168  DT.92011811  DT.102831417  DT.102831413  DT.102821093 
    DT.121214799  DT.121214835  DT.121214840  DT.121639716  DT.85104528  DT.91814925  DT.95259742  DT.97806073 

    Selected AceView cDNA sequences (see all 29):

    BQ712505 BX504138 AA252449 BC065494 BV196358 BM805072 BC035635 AI961123 
    CF137089 BU931905 U33834 BU859408 BM756886 BM771525 CD632668 BI910121 
    CD632667 BM756871 BX444193 BE827249 BU856039 AA189075 CF143707 AL135410 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DDX12P expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGACCTTTG
    DDX12P Expression
    About this image

    DDX12P Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DDX12P Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.504688

    UniProtKB/Swiss-Prot: DDX12_HUMAN, Q92771
    Tissue specificity: Only expressed in proliferating tissues

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDX12P

    (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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    ENSEMBL Gene Tree for DDX12P (if available)
    TreeFam Gene Tree for DDX12P (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DDX12P gene
    3 SIMAP similar genes for DDX12P using alignment to 1 protein entry:     DDX12_HUMAN:
    DDX11L8    CHLR1    DDX11

    Find genes that share paralogs with DDX12P           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 DDX12P (see all 764)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1381359201,2
    --9570100(+) AGGGGC/TGGGGA 1 -- ds50010--------
    rs286123761,2
    C,F--9570161(+) GGCTTG/CAGGCC 1 -- ds50012Minor allele frequency- C:0.25NA 4
    rs74870531,2
    C,A,H--9570169(+) GCCACA/GCAGCT 1 -- ds50012Minor allele frequency- G:0.00NA 4
    rs286085151,2
    C--9570189(+) GCTTCT/CGTCTG 1 -- ds50012Minor allele frequency- C:0.25NA 4
    rs1914240311,2
    --9570294(+) TCAATA/GAAAAA 1 -- nc-transcript-variant0--------
    rs1837430921,2
    --9570488(+) AGCTGC/TTGCAG 1 -- nc-transcript-variant0--------
    rs619167751,2
    C--9570703(+) GGGCTA/GTGGGG 1 -- nc-transcript-variant0--------
    rs43533471,2
    C,F--9570768(+) AAGGTA/GACAAG 1 -- nc-transcript-variant2Minor allele frequency- G:0.00NA 4
    rs44023901,2
    C--9570798(+) TGGCCG/ATGGGA 1 -- nc-transcript-variant2Minor allele frequency- A:0.00NA 4
    rs43121491,2
    C,A--9570816(+) AAATTG/AAGACC 1 -- nc-transcript-variant1Minor allele frequency- A:0.00NA 2

    HapMap Linkage Disequilibrium report for DDX12P (9570287 - 9600825 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DDX12P (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509454CNV Insertion20534489
    nsv508665CNV Loss20534489
    dgv1368n71CNV Loss21882294
    esv2568009CNV Loss19546169
    nsv898744CNV Loss21882294
    nsv8907CNV Gain18304495
    nsv428271CNV Gain18775914
    nsv898745CNV Gain21882294
    dgv466e1CNV Complex17122850
    dgv467e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing DDX12P
    DNA2.0 Custom Variant and Variant Library Synthesis for DDX12P

    (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: 601151OMIM information: 601150    

    Find genes that share disorders with DDX12P           About GenesLikeMe


    Export disorders for DDX12P 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 DDX12P gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with DDX12P)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of putative human homologues of the yeast chromosome transmission fidelity gene, CHL1. (PubMed id 9013641)1, 2 Amann J.... Lahti J.M. (J. Biol. Chem. 1997)
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    3. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)
    4. 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)
    5. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (Nature 2006)
    6. Lineage-specific gene duplication and loss in human and great ape evolution. (PubMed id 15252450)1 Fortna A....Sikela J.M. (PLoS Biol. 2004)
    7. 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)
    8. Localization of chi1-related helicase genes to human chromosome regions 12p11 and 12p13: similarity between parts of these genes and conserved human telomeric-associated DNA. (PubMed id 8833153)1 Amann J....Lahti J.M. (Genomics 1996)
    9. Loss of ChlR1 helicase in mouse causes lethality due to the accumulation of aneuploid cells generated by cohesion defects and placental malformation. (PubMed id 17611414)9 Inoue A....Lahti J.M. (Cell Cycle 2007)
    10. (PubMed id 15103394)10 

    (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: 440081 HGNC: 2737 AceView: LOC440081 Ensembl:ENSG00000214826 euGenes: HUgn440081
    ECgene: DDX12P H-InvDB: DDX12P

    (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 DDX12P 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 DDX12P gene:
    Search GeneIP for patents involving DDX12P

    GeneCards and IP:
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    (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, eBioscience, 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 inGenious Targeting Laboratory, genOway)
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     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for DDX12P  
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     Search QuantiFast Probe-based Assays in human, mouse, rat DDX12P QuantiTect SYBR Green Assays in human, mouse, rat DDX12P
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     Search Tocris compounds for DDX12P (DDX12)
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     Browse ESI BIO Cell Lines and PureStem Progenitors for DDX12P
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