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    DAXX death domain associated protein [ Homo sapiens (human) ]

    Gene ID: 1616, updated on 8-Jul-2021

    Summary

    Official Symbol
    DAXXprovided by HGNC
    Official Full Name
    death domain associated proteinprovided by HGNC
    Primary source
    HGNC:HGNC:2681
    See related
    Ensembl:ENSG00000204209 MIM:603186
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DAP6; EAP1; BING2; SMIM40
    Summary
    This gene encodes a multifunctional protein that resides in multiple locations in the nucleus and in the cytoplasm. It interacts with a wide variety of proteins, such as apoptosis antigen Fas, centromere protein C, and transcription factor erythroblastosis virus E26 oncogene homolog 1. In the nucleus, the encoded protein functions as a potent transcription repressor that binds to sumoylated transcription factors. Its repression can be relieved by the sequestration of this protein into promyelocytic leukemia nuclear bodies or nucleoli. This protein also associates with centromeres in G2 phase. In the cytoplasm, the encoded protein may function to regulate apoptosis. The subcellular localization and function of this protein are modulated by post-translational modifications, including sumoylation, phosphorylation and polyubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]
    Expression
    Ubiquitous expression in testis (RPKM 26.2), lymph node (RPKM 25.5) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See DAXX in Genome Data Viewer
    Location:
    6p21.32
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (33318558..33322959, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (33286335..33290736, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene TAP binding protein Neighboring gene zinc finger and BTB domain containing 22 Neighboring gene small integral membrane protein 40 Neighboring gene MYL12B pseudogene 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    integrase gag-pol The Fas-binding domain (residues 625-740) of DAXX is required for the interaction between DAXX and HIV-1 IN. DAXX interacts with IN to inhibit HIV-1 gene expression PubMed
    gag-pol A tetrapeptide 156KELK159 in HIV-1 IN is crucial for HIV-1 IN and Daxx interaction. Deleting the tetrapeptide significantly decreases the percentage of cells expressing the reporter gene compared to wild type IN PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC126245, MGC126246

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables androgen receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables heat shock protein binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables p53 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein N-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase activator activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sumo-dependent protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription corepressor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables transcription corepressor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription corepressor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables transcription factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables transcription regulator inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in activation of protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in androgen receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to cadmium ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to copper ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to diamide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to heat IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to sodium arsenite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to unfolded protein IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chromatin remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in extrinsic apoptotic signaling pathway via death domain receptors TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of transcription, DNA-templated IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nucleosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in nucleosome assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of neuron death IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of protein kinase activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of protein phosphorylation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in PML body IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in PML body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in PML body TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in chromosome, centromeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    death domain-associated protein 6
    Names
    CENP-C binding protein
    ETS1-associated protein 1
    Fas-binding protein
    death-associated protein 6
    fas death domain-associated protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001141969.2NP_001135441.1  death domain-associated protein 6 isoform a

      See identical proteins and their annotated locations for NP_001135441.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript but encodes the shorter isoform (a). Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AK223404, BC073776, BM997178, DC359186
      Consensus CDS
      CCDS4776.1
      UniProtKB/Swiss-Prot
      Q9UER7
      UniProtKB/TrEMBL
      A0A024RCS3, Q53F85
      Related
      ENSP00000363668.5, ENST00000374542.10
      Conserved Domains (2) summary
      cd13150
      Location:183387
      DAXX_histone_binding; Histone binding domain of the death-domain associated protein (DAXX)
      pfam03344
      Location:56146
      Daxx; Daxx N-terminal Rassf1C-interacting domain
    2. NM_001141970.2NP_001135442.1  death domain-associated protein 6 isoform b

      See identical proteins and their annotated locations for NP_001135442.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame segment in a 5' coding exon and uses an upstream start codon, compared to variant 1. The resulting protein (isoform b) has a distinct and longer N-terminus, compared to isoform a.
      Source sequence(s)
      AK303767, BM997178
      UniProtKB/TrEMBL
      B4E1C1
      Conserved Domains (2) summary
      cd13150
      Location:195399
      DAXX_histone_binding; Histone binding domain of the death-domain associated protein (DAXX)
      pfam03344
      Location:68158
      Daxx; Daxx N-terminal Rassf1C-interacting domain
    3. NM_001254717.2NP_001241646.1  death domain-associated protein 6 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks an exon in the coding region, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (c) with a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AA533586, AK303854, AL662820
      Consensus CDS
      CCDS59008.1
      UniProtKB/Swiss-Prot
      Q9UER7
      Related
      ENSP00000396876.2, ENST00000414083.6
      Conserved Domains (2) summary
      cd13150
      Location:108312
      DAXX_histone_binding; Histone binding domain of the death-domain associated protein (DAXX)
      cl23986
      Location:171
      DAXX_helical_bundle; Helical bundle domain of the death-domain associated protein (DAXX)
    4. NM_001350.5NP_001341.1  death domain-associated protein 6 isoform a

      See identical proteins and their annotated locations for NP_001341.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AF050179, BM997178, DC345308
      Consensus CDS
      CCDS4776.1
      UniProtKB/Swiss-Prot
      Q9UER7
      UniProtKB/TrEMBL
      A0A024RCS3
      Related
      ENSP00000266000.6, ENST00000266000.10
      Conserved Domains (2) summary
      cd13150
      Location:183387
      DAXX_histone_binding; Histone binding domain of the death-domain associated protein (DAXX)
      pfam03344
      Location:56146
      Daxx; Daxx N-terminal Rassf1C-interacting domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      33318558..33322959 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005248860.3XP_005248917.1  death domain-associated protein 6 isoform X1

      See identical proteins and their annotated locations for XP_005248917.1

    Reference GRCh38.p13 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

      Range
      4730043..4734448 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

      Range
      4562073..4566478 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

      Range
      4754493..4758893 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

      Range
      4512987..4517389 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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