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Aliases for DAXX Gene

Aliases for DAXX Gene

  • Death-Domain Associated Protein 2 3
  • Fas Death Domain-Associated Protein 3 4
  • Death-Associated Protein 6 2 3
  • ETS1-Associated Protein 1 3 4
  • BING2 3 4
  • EAP1 3 4
  • DAP6 3 4
  • Death Domain-Associated Protein 6 3
  • CENP-C Binding Protein 3
  • Fas-Binding Protein 3
  • HDaxx 4
  • Daxx 4

External Ids for DAXX Gene

Summaries for DAXX Gene

Entrez Gene Summary for DAXX Gene

  • 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]

GeneCards Summary for DAXX Gene

DAXX (Death-Domain Associated Protein) is a Protein Coding gene. Among its related pathways are MAPK signaling pathway and Akt Signaling. GO annotations related to this gene include protein homodimerization activity and enzyme binding.

UniProtKB/Swiss-Prot for DAXX Gene

  • Transcription corepressor known to repress transcriptional potential of several sumoylated transcription factors. Down-regulates basal and activated transcription. 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. Seems to regulate transcription in PML/POD/ND10 nuclear bodies together with PML and may influence TNFRSF6-dependent apoptosis thereby. Inhibits transcriptional activatiopn of PAX3 and ETS1 through direct protein-protein interactions. Modulates PAX5 activity; the function seems to involve CREBBP. 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. Acts as histone chaperone that facilitates deposition of histone H3.3. Acts as targeting component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase activity and catalyzes the replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S-phase and telomeres, and the in vitro remodeling of H3.3-containing nucleosomes. Does not affect the ATPase activity of ATRX but alleviates its transcription repression activity. Upopn neuronal activation asociates with regulatory elements of selected immediate early genes where it promotes deposition of histone H3.3 which may be linked to transcriptional induction of these genes. Required for the recruitment of histone H3.3:H4 dimers to PML-nuclear bodies (PML-NBs); the process is independent of ATRX and facilitated by ASF1A; PML-NBs are suggested to function as regulatory sites for the incorporation of newly synthesized histone H3.3 into chromatin. In case of overexpression of centromeric histone variant CENPA (as found in various tumors) is involved in its mislocalization to chromosomes; the ectopic localization involves a heterotypic tetramer containing CENPA, and histones H3.3 and H4 and decreases binding of CTCF to chromatin. 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. Shows restriction activity towards human cytomegalovirus (HCMV).

Gene Wiki entry for DAXX Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DAXX Gene

Genomics for DAXX Gene

Genomic Location for DAXX Gene

Start:
33,318,558 bp from pter
End:
33,329,269 bp from pter
Size:
10,712 bases
Orientation:
Minus strand

Genomic View for DAXX Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DAXX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Regulatory Elements for DAXX Gene

Proteins for DAXX Gene

  • Protein details for DAXX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UER7-DAXX_HUMAN
    Recommended name:
    Death domain-associated protein 6
    Protein Accession:
    Q9UER7
    Secondary Accessions:
    • B4E1I3
    • F5ANJ6
    • F5ANJ7
    • F5H082
    • O14747
    • O15141
    • O15208
    • Q5STK9
    • Q9BWI3

    Protein attributes for DAXX Gene

    Size:
    740 amino acids
    Molecular mass:
    81373 Da
    Quaternary structure:
    • Homomultimer. Interacts (via C-terminus) with TNFRSF6 (via death domain). Interacts with PAX5, SLC2A4/GLUT4, MAP3K5, TGFBR2, phosphorylated dimeric HSPB1/HSP27, CENPC, ETS1, sumoylated PML, UBE2I, MCRS1 and TP53. Interacts (via N-terminus) with HIPK2 and HIPK3. Interacts with HIPK1, which induces translocation from PML/POD/ND10 nuclear bodies to chromatin and enhances association with HDAC1. Interacts (non-phosphorylated) with PAX3, PAX7, DEK, HDAC1, HDAC2, HDAC3, acetylated histone H4 and histones H2A, H2B, H3, H3.3 and H4. Interacts with SPOP; mediating CUL3-dependent proteosomal degradation. 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 MDM2; the interaction is direct. Interacts with USP7; the interaction is direct and independent of MDM2 and TP53. Part of a complex with DAXX, MDM2 and USP7 under non-stress conditions. Interacts (via N-terminus) with RASSF1 (via C-terminus); the interaction is independent of MDM2 and TP53; RASSF1 isoform A disrupts interactions among MDM2, DAXX and USP7, thus contributing to the efficient activation of TP53 by promoting MDM2 self-ubiquitination in cell-cycle checkpoint control in response to DNA damage. Interacts with ATRX to form the chromatin remodeling complex ATRX:DAXX. Interacts with human cytomegalovirus/HHV-5 tegument phosphoprotein pp71 and protein UL123.

    Three dimensional structures from OCA and Proteopedia for DAXX Gene

    Alternative splice isoforms for DAXX Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DAXX Gene

Proteomics data for DAXX Gene at MOPED

Post-translational modifications for DAXX Gene

  • Phosphorylated by HIPK1 upon glucose deprivation.
  • 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 it.
  • Sumoylated with SUMO1 on multiple lysine residues.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys243, Lys277, Lys378, and Lys385

No data available for DME Specific Peptides for DAXX Gene

Domains for DAXX Gene

Protein Domains for DAXX Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9UER7

UniProtKB/Swiss-Prot:

DAXX_HUMAN
Domain:
  • The Sumo interaction motif mediates Sumo binding, and is required both for sumoylation and binding to sumoylated targets:
    • Q9UER7
Family:
  • Belongs to the DAXX family.:
    • Q9UER7
genes like me logo Genes that share domains with DAXX: view

No data available for Gene Families for DAXX Gene

Function for DAXX Gene

Molecular function for DAXX Gene

GENATLAS Biochemistry: murine Daxx homolog,120kDa,with a dominant transcript ubiquitously expressed,a truncated transcript in placenta and pancreas,and an extended transcript in heart and skeletal muscle,binding to FAS (APT1),enhancing Fas-mediated apoptosis through the JNK signal transduction pathway,alternatively,potential regulator of FAS-induced apoptosis from nuclear oncogenic domains PODs in which it colocalizes with PML.
UniProtKB/Swiss-Prot Function: Transcription corepressor known to repress transcriptional potential of several sumoylated transcription factors. Down-regulates basal and activated transcription. 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. Seems to regulate transcription in PML/POD/ND10 nuclear bodies together with PML and may influence TNFRSF6-dependent apoptosis thereby. Inhibits transcriptional activatiopn of PAX3 and ETS1 through direct protein-protein interactions. Modulates PAX5 activity; the function seems to involve CREBBP. 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. Acts as histone chaperone that facilitates deposition of histone H3.3. Acts as targeting component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase activity and catalyzes the replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S-phase and telomeres, and the in vitro remodeling of H3.3-containing nucleosomes. Does not affect the ATPase activity of ATRX but alleviates its transcription repression activity. Upopn neuronal activation asociates with regulatory elements of selected immediate early genes where it promotes deposition of histone H3.3 which may be linked to transcriptional induction of these genes. Required for the recruitment of histone H3.3:H4 dimers to PML-nuclear bodies (PML-NBs); the process is independent of ATRX and facilitated by ASF1A; PML-NBs are suggested to function as regulatory sites for the incorporation of newly synthesized histone H3.3 into chromatin. In case of overexpression of centromeric histone variant CENPA (as found in various tumors) is involved in its mislocalization to chromosomes; the ectopic localization involves a heterotypic tetramer containing CENPA, and histones H3.3 and H4 and decreases binding of CTCF to chromatin. 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. Shows restriction activity towards human cytomegalovirus (HCMV).
UniProtKB/Swiss-Prot Induction: Upon mitogenic stimulation by concanavalin-A

Gene Ontology (GO) - Molecular Function for DAXX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002039 p53 binding IPI 16845383
GO:0003714 transcription corepressor activity IDA 12140263
GO:0005057 receptor signaling protein activity TAS 9215629
GO:0005515 protein binding IPI 10669754
GO:0008134 transcription factor binding IDA 10698492
genes like me logo Genes that share ontologies with DAXX: view
genes like me logo Genes that share phenotypes with DAXX: view

Animal Models for DAXX Gene

MGI Knock Outs for DAXX:

miRNA for DAXX Gene

miRTarBase miRNAs that target DAXX

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for DAXX Gene

Localization for DAXX Gene

Subcellular locations from UniProtKB/Swiss-Prot for DAXX Gene

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 histone H3.3, ATRX, HIRA and ASF1A at PML-nuclear bodies. 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.
Isoform beta: Nucleus. Note=Diffuse nuclear distribution pattern and no comparable dot-like accumulation of isoform 1. {ECO:0000269 PubMed:21482821}.
Isoform gamma: Nucleus. Note=Diffuse nuclear distribution pattern and no comparable dot-like accumulation of isoform 1. {ECO:0000269 PubMed:21482821}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DAXX Gene COMPARTMENTS Subcellular localization image for DAXX gene
Compartment Confidence
nucleus 5
cytosol 4

Gene Ontology (GO) - Cellular Components for DAXX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IDA 10504293
GO:0000792 heterochromatin IEA --
GO:0005634 nucleus IMP 10698492
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm TAS 15572661
genes like me logo Genes that share ontologies with DAXX: view

Pathways for DAXX Gene

genes like me logo Genes that share pathways with DAXX: view

Gene Ontology (GO) - Biological Process for DAXX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000281 mitotic cytokinesis IEA --
GO:0001934 positive regulation of protein phosphorylation IGI 15983381
GO:0006334 nucleosome assembly IDA 20504901
GO:0006338 chromatin remodeling IDA 20651253
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with DAXX: view

Compounds for DAXX Gene

(8) Novoseek inferred chemical compound relationships for DAXX Gene

Compound -log(P) Hits PubMed IDs
lysine 32.6 1
arsenite 31.4 2
sb 203580 20.1 1
imatinib 11.1 1
h2o2 3.07 3
genes like me logo Genes that share compounds with DAXX: view

Transcripts for DAXX Gene

Unigene Clusters for DAXX Gene

Death-domain associated protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DAXX Gene

No ASD Table

Relevant External Links for DAXX Gene

GeneLoc Exon Structure for
DAXX
ECgene alternative splicing isoforms for
DAXX

Expression for DAXX Gene

mRNA expression in normal human tissues for DAXX Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for DAXX Gene

SOURCE GeneReport for Unigene cluster for DAXX Gene Hs.336916

mRNA Expression by UniProt/SwissProt for DAXX Gene

Q9UER7-DAXX_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with DAXX: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for DAXX Gene

Orthologs for DAXX Gene

This gene was present in the common ancestor of animals.

Orthologs for DAXX Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DAXX 35
  • 99.32 (n)
  • 98.78 (a)
DAXX 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DAXX 35
  • 87.98 (n)
  • 85.38 (a)
DAXX 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DAXX 35
  • 90.27 (n)
  • 90.18 (a)
DAXX 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Daxx 35
  • 78.4 (n)
  • 72.9 (a)
Daxx 16
Daxx 36
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DAXX 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Daxx 35
  • 77.75 (n)
  • 73.9 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24796 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10894 35
zebrafish
(Danio rerio)
Actinopterygii daxx 36
  • 36 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009432 35
  • 43.96 (n)
  • 29.24 (a)
fruit fly
(Drosophila melanogaster)
Insecta DLP 36
  • 8 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 27 (a)
OneToOne
Species with no ortholog for DAXX:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DAXX Gene

ENSEMBL:
Gene Tree for DAXX (if available)
TreeFam:
Gene Tree for DAXX (if available)

Paralogs for DAXX Gene

No data available for Paralogs for DAXX Gene

Variants for DAXX Gene

Sequence variations from dbSNP and Humsavar for DAXX Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs1059231 -- 33,320,494(-) AAATA(C/T)GCAAT synonymous-codon, reference
rs2073524 -- 33,322,770(+) ACAGC(A/T)TTCCC intron-variant
rs2073525 -- 33,323,048(+) AGGTG(A/G)CAGTA upstream-variant-2KB
rs2239839 -- 33,320,298(-) TGGGG(G/T)AGCAT intron-variant
rs2269610 -- 33,322,158(-) CCCCC(C/G)CCCAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DAXX Gene

Variant ID Type Subtype PubMed ID
nsv830634 CNV Loss 17160897
nsv830635 CNV Loss 17160897
esv22635 CNV Loss 19812545

Relevant External Links for DAXX Gene

HapMap Linkage Disequilibrium report
DAXX

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DAXX Gene

Disorders for DAXX Gene

(12) Novoseek inferred disease relationships for DAXX Gene

Disease -log(P) Hits PubMed IDs
promyelocytic leukemia 82 15
alpha-thalassemia 41.1 1
herpes simplex 31.6 1
prostatic adenocarcinoma 22.2 1
leukemia 15 6

Relevant External Links for DAXX

Genetic Association Database (GAD)
DAXX
Human Genome Epidemiology (HuGE) Navigator
DAXX
genes like me logo Genes that share disorders with DAXX: view

No data available for UniProtKB/Swiss-Prot for DAXX Gene

Publications for DAXX Gene

  1. Daxx, a novel Fas-binding protein that activates JNK and apoptosis. (PMID: 9215629) Yang X. … Baltimore D. (Cell 1997) 2 3 4 23
  2. Cloning and expression of primate Daxx cDNAs and mapping of the human gene to chromosome 6p21.3 in the MHC region. (PMID: 9407001) Kiriakidou M. … Strauss J.F. III (DNA Cell Biol. 1997) 2 3 4 23
  3. Interphase-specific association of intrinsic centromere protein CENP- C with HDaxx, a death domain-binding protein implicated in Fas- mediated cell death. (PMID: 9645950) Pluta A.F. … Goldberg I.G. (J. Cell Sci. 1998) 3 4 23
  4. Inhibition of Daxx-mediated apoptosis by heat shock protein 27. (PMID: 11003656) Charette S.J. … Landry J. (Mol. Cell. Biol. 2000) 3 4 23
  5. Apoptosis signal-regulating kinase 1 controls the proapoptotic function of death-associated protein (Daxx) in the cytoplasm. (PMID: 11495919) Ko Y.-G. … Kim S. (J. Biol. Chem. 2001) 3 4 23

Products for DAXX Gene

  • Addgene plasmids for DAXX

Sources for DAXX Gene

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