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ENSG00000206279 Gene

protein-coding   GIFtS: 17
GCID: GC06Mn33215          (predicted)

ENSG00000206279


  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
BING23     ETS1-Associated Protein 13
DAP63     Fas Death Domain-Associated Protein3
Daxx3     hDaxx3
EAP13     

External Ids:    Ensembl: ENSG000002062797   UniProtKB: Q9UER73   

Export aliases for ENSG00000206279 gene to outside databases

Previous GC identifer: GC06Mf33358


(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 ENSG00000206279 Gene:
ENSG00000206279 is a protein-coding gene. Diseases associated with ENSG00000206279 include cytomegalovirus infection, and leukemia.

UniProtKB/Swiss-Prot: DAXX_HUMAN, Q9UER7
Function: Transcription corepressor known to repress transcriptional potential of several sumoylated transcription
factors. Acts as an adapter protein in a MDM2-DAXX-USP7 complex by regulating the RING-finger E3 ligase MDM2
ubiquitination activity. Under non-stress condition, in association with the deubiquitinating USP7, prevents MDM2
self-ubiquitination and enhances the intrinsic E3 ligase activity of MDM2 towards TP53, thereby promoting TP53
ubiquitination and subsequent proteasomal degradation. Upon DNA damage, its association with MDM2 and USP7 is
disrupted, resulting in increased MDM2 autoubiquitination and consequently, MDM2 degradation, which leads to TP53
stabilization. Proposed to mediate activation of the JNK pathway and apoptosis via MAP3K5 in response to
signaling from TNFRSF6 and TGFBR2. Interaction with HSPB1/HSP27 may prevent interaction with TNFRSF6 and MAP3K5
and block DAXX-mediated apoptosis. In contrast, in lymphoid cells JNC activation and TNFRSF6-mediated apoptosis
may not involve DAXX. Seems to regulate transcription in PML/POD/ND10 nuclear bodies together with PML and may
influence TNFRSF6-dependent apoptosis thereby. Down-regulates basal and activated transcription. Seems to act as
a transcriptional corepressor and inhibits PAX3 and ETS1 through direct protein-protein interaction. Modulates
PAX5 activity. Its transcription repressor activity is modulated by recruiting it to subnuclear compartments like
the nucleolus or PML/POD/ND10 nuclear bodies through interactions with MCSR1 and PML, respectively. Shows
restriction activity towards human cytomegalovirus (HCMV)




(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 ENSG00000206279
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ENSG00000206279

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ENSG00000206279


Genomic Location:
Chromosome:6   

Ensembl cytogenetic band:  HSCHR6_MHC_QBLp21.32   

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06Mn33215:       (about GC identifiers)

Start:
33,215,186 bp from start of contig ALT_REF_LOCI_6      End:
33,225,897 bp from start of contig ALT_REF_LOCI_6
Size:
10,712 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: DAXX_HUMAN, Q9UER7 (See protein sequence)
Recommended Name: Death domain-associated protein 6  
Size: 740 amino acids; 81373 Da
Subunit: Homomultimer. Binds to the TNFRSF6 death domain via its C-terminus and to PAX5. Binds to SLC2A4/GLUT4,
MAP3K5, TGFBR2, phosphorylated dimeric HSPB1/HSP27, CENPC, ETS1, sumoylated PML, UBE2I and MCRS1. Is part of a
complex containing PAX5 and CREBBP. Interacts with HIPK2 and HIPK3 via its N-terminus. Interacts with HIPK1,
which induces translocation from PML/POD/ND10 nuclear bodies to chromatin and enhances association with HDAC1 (By
similarity). The non-phosphorylated form binds to PAX3, PAX7, DEK, HDAC1, HDAC2, HDAC3, acetylated histone H4 and
histones H2A, H2B, H3 and H4. Interacts with SPOP. Part of a complex consisting of DAXX, CUL3 and SPOP. Interacts
with CBP; the interaction is dependent the sumoylation of CBP and suppresses CBP transcriptional activity via
recruitment of HDAC2 directly in the complex with TP53 and HIPK2. Interacts with AXIN1; the interaction
stimulates the interaction of DAXX with TP53, stimulates 'Ser-46' phosphorylation of TP53 on and induces cell
death on UV irradiation. Interacts with HCMV tegument phosphoprotein pp71. Part of a complex with MDM2, DAXX,
RASSF1 and USP7. Part of a complex with DAXX, MDM2 and USP7. Interacts (via N-terminus) with RASSF1 (via
C-terminus); the interaction is independent of MDM2 and TP53. Interacts with MDM2; the interaction is direct.
Interacts with USP7; the interaction is direct and independent of MDM2 and TP53. Interacts with TP53. Interacts
with human cytomegalovirus/HHV-5 protein UL123
Selected PDB 3D structures from and Proteopedia for ENSG00000206279 (see all 10):
2KQS (3D)        2KZS (3D)        2KZU (3D)        4H9N (3D)        4H9O (3D)        4H9P (3D)    
Secondary accessions: B4E1I3 F5H082 O14747 O15141 O15208 Q5STK9 Q9BWI3
Alternative splicing: 3 isoforms:  Q9UER7-1   Q9UER7-2   Q9UER7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ENSG00000206279: NX_Q9UER7

Explore proteomics data for ENSG00000206279 at MOPED

Post-translational modifications: 

  • Sumoylated with SUMO1 on multiple lysine residues1
  • Phosphorylated by HIPK1 upon glucose deprivation1
  • Polyubiquitinated; which is promoted by CUL3 and SPOP and results in proteasomal degradation. Ubiquitinated by
    MDM2; inducing its degradation. Deubiquitinated by USP7; leading to stabilize it1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ENSG00000206279 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


    ENSEMBL proteins: 
     ENSP00000382281   ENSP00000372681   ENSP00000415898   ENSP00000411700   ENSP00000407623  

    ENSG00000206279 Human Recombinant Protein Products:

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    ENSG00000206279 Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
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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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    1 InterPro protein domain:
     IPR005012 Daxx

    Graphical View of Domain Structure for InterPro Entry Q9UER7

    ProtoNet protein and cluster: Q9UER7

    1 Blocks protein domain: IPB005012 Daxx protein

    UniProtKB/Swiss-Prot: DAXX_HUMAN, Q9UER7
    Domain: The Sumo interaction motif mediates Sumo binding, and is required both for sumoylation and binding to
    sumoylated targets
    Similarity: Belongs to the DAXX family


    ENSG00000206279 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: DAXX_HUMAN, Q9UER7
    Function: Transcription corepressor known to repress transcriptional potential of several sumoylated transcription
    factors. Acts as an adapter protein in a MDM2-DAXX-USP7 complex by regulating the RING-finger E3 ligase MDM2
    ubiquitination activity. Under non-stress condition, in association with the deubiquitinating USP7, prevents MDM2
    self-ubiquitination and enhances the intrinsic E3 ligase activity of MDM2 towards TP53, thereby promoting TP53
    ubiquitination and subsequent proteasomal degradation. Upon DNA damage, its association with MDM2 and USP7 is
    disrupted, resulting in increased MDM2 autoubiquitination and consequently, MDM2 degradation, which leads to TP53
    stabilization. Proposed to mediate activation of the JNK pathway and apoptosis via MAP3K5 in response to
    signaling from TNFRSF6 and TGFBR2. Interaction with HSPB1/HSP27 may prevent interaction with TNFRSF6 and MAP3K5
    and block DAXX-mediated apoptosis. In contrast, in lymphoid cells JNC activation and TNFRSF6-mediated apoptosis
    may not involve DAXX. Seems to regulate transcription in PML/POD/ND10 nuclear bodies together with PML and may
    influence TNFRSF6-dependent apoptosis thereby. Down-regulates basal and activated transcription. Seems to act as
    a transcriptional corepressor and inhibits PAX3 and ETS1 through direct protein-protein interaction. Modulates
    PAX5 activity. Its transcription repressor activity is modulated by recruiting it to subnuclear compartments like
    the nucleolus or PML/POD/ND10 nuclear bodies through interactions with MCSR1 and PML, respectively. Shows
    restriction activity towards human cytomegalovirus (HCMV)
    Induction: Upon mitogenic stimulation by concanavalin-A

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002039p53 binding ----
    GO:0005057receptor signaling protein activity ----
    GO:0005515protein binding ----
    GO:0008134transcription factor binding ----
    GO:0019899enzyme binding ----
         
    ENSG00000206279 for ontologies           About GeneDecksing


    Animal Models:
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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
    DAXX_HUMAN, Q9UER7: Cytoplasm. Nucleus, nucleoplasm. Nucleus, PML body. Nucleus, nucleolus. Chromosome,
    centromere. Note=Dispersed throughout the nucleoplasm, in PML/POD/ND10 nuclear bodies, and in nucleoli.
    Colocalizes with a subset of interphase centromeres, but is absent from mitotic centromeres. Detected in
    cytoplasmic punctate structures. Translocates from the nucleus to the cytoplasm upon glucose deprivation or
    oxidative stress. Colocalizes with RASSF1 in the nucleus. Colocalizes with USP7 in nucleoplasma with accumulation
    in speckled structures

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000775chromosome, centromeric region ----
    GO:0000792heterochromatin ----
    GO:0005634nucleus ----
    GO:0005730nucleolus ----
    GO:0005737cytoplasm ----

    ENSG00000206279 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 ENSG00000206279
    Interactions:

        Search GeneGlobe Interaction Network for ENSG00000206279

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for ENSG00000206279 (Q9UER71, 2, 3 ENSP000003822814) via UniProtKB, MINT, STRING, and/or I2D (see all 141)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RASSF1Q9NS231, 2, 3EBI-77321,EBI-367363 MINT-6801600 MINT-6801769 MINT-6801621 MINT-6801754 MINT-6801643 MINT-6801545 MINT-6801679 MINT-6801730 MINT-6801578 I2D: score=3 
    HIST1H4AP628053I2D: score=5 
    HIST1H4BP628053I2D: score=5 
    HIST1H4CP628053I2D: score=5 
    HIST1H4DP628053I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000281mitotic cytokinesis ----
    GO:0006351transcription, DNA-templated ----
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006915apoptotic process ----
    GO:0007257activation of JUN kinase activity ----

    ENSG00000206279 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 ENSG00000206279 (DAXX)



    (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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    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000399344(uc021zvn.1 uc021zvo.1) ENST00000383194(uc011jba.2 uc011jbb.2 uc011jbc.2 uc011jaz.2 uc011jbd.1)
    ENST00000471954 ENST00000494562 ENST00000466908 ENST00000496639 ENST00000429531
    ENST00000438332 ENST00000494997 ENST00000419051 ENST00000497962
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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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    See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: --

    ENSG00000206279 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ENSG00000206279 Protein Expression

    UniProtKB/Swiss-Prot: DAXX_HUMAN, Q9UER7
    Tissue specificity: Ubiquitous

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    In Situ
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    (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 ENSG00000206279 (if available)
    TreeFam Gene Tree for ENSG00000206279 (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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    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing ENSG00000206279
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    (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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    2 diseases for ENSG00000206279:    
    About MalaCards
    cytomegalovirus infection    leukemia


    ENSG00000206279 for disorders           About GeneDecksing


    Export disorders for ENSG00000206279 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 ENSG00000206279 gene, integrated from 10 sources (see all 44):
    (articles sorted by number of sources associating them with ENSG00000206279)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    2. NMR chemical shift assignments of a complex between SUMO-1 and SIM peptide derived from the C-terminus of Daxx. (PubMed id 20927612)2 Naik M.T.... Huang T.H. (Biomol. NMR. Assign. 2011)
    3. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    4. Daxx is reciprocally regulated by Mdm2 and Hausp. (PubMed id 20153724)2 Tang J.... Yang X. (Biochem. Biophys. Res. Commun. 2010)
    5. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    6. Human cytomegalovirus IE72 protein interacts with the transcriptional repressor hDaxx to regulate LUNA gene expression during lytic infection. (PubMed id 20444888)2 Reeves M.... Sinclair J. (J. Virol. 2010)
    7. Structural characterization of the DAXX N-terminal helical bundle domain and its complex with Rassf1C. (PubMed id 21134643)2 Escobar-Cabrera E....McIntosh L.P. (Structure 2010)
    8. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (Sci. Signal. 2009)
    9. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (Anal. Chem. 2009)
    10. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (Science 2009)

    (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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    Ensembl:ENSG00000206279

    (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
    ATLAS Chromosomes in Cancer entry for ENSG00000206279 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 ENSG00000206279 gene:
    Search GeneIP for patents involving ENSG00000206279

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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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