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DDX11L8 Gene

pseudogene   GIFtS: 22
GCID: GC12M000095

DEAD/H (Asp-Glu-Ala-Asp/His) Box Helicase 11 Like 8

(Previous name: DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 8)
  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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
DEAD/H (Asp-Glu-Ala-Asp/His) Box Helicase 11 Like 81
DEAD/H (Asp-Glu-Ala-Asp/His) Box Polypeptide 11 Like 81 2
EC 3.6.4.133
DEAD/H Box Protein 11-Like 83

External Ids:    HGNC: 371011   Entrez Gene: 1003020902   Ensembl: ENSG000002562637   UniProtKB: A8MPP13   
ORGUL members:         

Export aliases for DDX11L8 gene to outside databases

Previous GC identifers: GC00U928076 GC12P000091


(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 DDX11L8 Gene:
DDX11L8 (DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 8) is a pseudogene, and is affiliated with the lncRNA class. Diseases associated with DDX11L8 include baller-gerold syndrome, and roberts syndrome.

UniProtKB/Swiss-Prot: D11L8_HUMAN, A8MPP1
Function: Putative DNA helicase (By similarity)




(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 DDX11L8
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for DDX11L8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DDX11L8


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

Ensembl cytogenetic band:  12p13.33   HGNC cytogenetic band: 12p13.33

DDX11L8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DDX11L8 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M000095:  view genomic region     (about GC identifiers)

Start:
92,146 bp from pter      End:
93,430 bp from pter
Size:
1,285 bases      Orientation:
minus strand

2 alternative locations:
Chr12+,NW_003571048 2,321-3,594      Chr12+,NW_003571049 2,321-3,594     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: D11L8_HUMAN, A8MPP1 (See protein sequence)
Recommended Name: Putative ATP-dependent RNA helicase DDX11-like protein 8  
Size: 907 amino acids; 101811 Da
Caution: Defined as a pseudogene by HGNC. However, proteomics data suggest the existence of the protein

Explore the universe of human proteins at neXtProt for DDX11L8: NX_A8MPP1

Explore proteomics data for DDX11L8 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys38, Lys528, Lys613, Lys812, Lys831, Lys840
  • Modification sites at PhosphoSitePlus

  • See DDX11L8 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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    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 A8MPP1

    ProtoNet protein and cluster: A8MPP1

    UniProtKB/Swiss-Prot: D11L8_HUMAN, A8MPP1
    Similarity: Belongs to the DEAD box helicase family. DEAH subfamily. DDX11/CHL1 sub-subfamily
    Similarity: Contains 1 helicase ATP-binding domain


    DDX11L8 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: D11L8_HUMAN, A8MPP1
    Function: Putative DNA helicase (By similarity)
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Enzyme Number (IUBMB): EC 3.6.4.131

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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
    D11L8_HUMAN, A8MPP1: Nucleus, nucleolus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol2
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1

    (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 DDX11L8
    Interactions:

        Search GeneGlobe Interaction Network for DDX11L8

    Selected Interacting proteins for DDX11L8 (A8MPP11, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 77)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSP90AA1P079003I2D: score=3 
    DBNLQ9UJU63I2D: score=2 
    ACSF3Q4G1763I2D: score=1 
    ADAT2Q7Z6V53I2D: score=1 
    ATE1O952603I2D: score=1 
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for DDX11L8 (D11L8)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000535849
    miRNA
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    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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    DDX11L8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DDX11L8 Expression
    About this image

    DDX11L8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DDX11L8 Protein Expression
        Custom PCR Arrays for DDX11L8
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDX11L8

    (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 DDX11L8 (if available)
    TreeFam Gene Tree for DDX11L8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DDX11L8 gene
    6 SIMAP similar genes for DDX11L8 using alignment to 1 protein entry:     D11L8_HUMAN:
    DDX12P    CHLR1    DDX11    DDX11L2    DDX11L3    DDX11L9

    DDX11L8 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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    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing DDX11L8
    DNA2.0 Custom Variant and Variant Library Synthesis for DDX11L8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    4 diseases for DDX11L8:    About MalaCards
    baller-gerold syndrome    roberts syndrome    cornelia de lange syndrome    fanconi's anemia

    3 diseases from the University of Copenhagen DISEASES database for DDX11L8:
    Baller-Gerold syndrome     Roberts syndrome     Fanconi's anemia

    DDX11L8 for disorders           About GeneDecksing


    Export disorders for DDX11L8 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 DDX11L8 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with DDX11L8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. DDX11L: a novel transcript family emerging from human subtelomeric regions. (PubMed id 19476624)1, 3 Costa V.... Ciccodicola A. (BMC Genomics 2009)
    2. 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)
    3. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (Nature 2006)

    (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: 100302090 HGNC: 37101 Ensembl:ENSG00000256263 euGenes: HUgn100302090 ECgene: DDX11L8
    H-InvDB: DDX11L8

    (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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      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DDX11L8 gene:
    Search GeneIP for patents involving DDX11L8

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



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