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

Gene ID: 1616, updated on 5-Jan-2025

Summary

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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; AllianceGenome:HGNC:2681
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
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Genomic context

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See DAXX in Genome Data Viewer
Location:
6p21.32
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (33318558..33322959, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (33139920..33144321, complement)
RS_2024_09 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 ral guanine nucleotide dissociation stimulator like 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33267887-33268394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33268395-33268900 Neighboring gene TAP binding protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33282409-33283068 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33283069-33283726 Neighboring gene zinc finger and BTB domain containing 22 Neighboring gene uncharacterized LOC124901303 Neighboring gene small integral membrane protein 40 Neighboring gene MYL12B pseudogene 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. Knockdown of hDaxx in normally non-permissive undifferentiated cells does not permit human cytomegalovirus immediate-early gene expression. Groves IJ, et al. J Gen Virol, 2007 Nov. PMID 17947514
  2. Daxx: death or survival protein? Salomoni P, et al. Trends Cell Biol, 2006 Feb. PMID 16406523
  3. Human cytomegalovirus (HCMV) UL82 gene product (pp71) relieves hDaxx-mediated repression of HCMV replication. Cantrell SR, et al. J Virol, 2006 Jun. PMID 16731959, Free PMC Article
  4. Human Daxx-mediated repression of human cytomegalovirus gene expression correlates with a repressive chromatin structure around the major immediate early promoter. Woodhall DL, et al. J Biol Chem, 2006 Dec 8. PMID 17035242
  5. Variable DAXX gene methylation is a common feature of placental trophoblast differentiation, preeclampsia, and response to hypoxia. Novakovic B, et al. FASEB J, 2017 Jun. PMID 28223336

See all (378) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Loss of ATRX and DAXX in pancreatic neuroendocrine tumors: Association with recurrence risk, cellular phenotype, and heterogeneity.
    Title: Loss of ATRX and DAXX in pancreatic neuroendocrine tumors: Association with recurrence risk, cellular phenotype, and heterogeneity.
  2. DAXX promotes centromeric stability independently of ATRX by preventing the accumulation of R-loop-induced DNA double-stranded breaks.
    Title: DAXX promotes centromeric stability independently of ATRX by preventing the accumulation of R-loop-induced DNA double-stranded breaks.
  3. HPV16 E7 protein antagonizes TNF-alpha-induced apoptosis of cervical cancer cells via Daxx/JNK pathway.
    Title: HPV16 E7 protein antagonizes TNF-α-induced apoptosis of cervical cancer cells via Daxx/JNK pathway.
  4. DAXX adds a de novo H3.3K9me3 deposition pathway to the histone chaperone network.
    Title: DAXX adds a de novo H3.3K9me3 deposition pathway to the histone chaperone network.
  5. The Impact of Human Mammary Tumor Virus (HMTV) on the Expression of Epidermal Growth Factor Receptor (EGFR) and Death-Domain Associated Protein (DAXX) in Breast Carcinoma Tissues.
    Title: The Impact of Human Mammary Tumor Virus (HMTV) on the Expression of Epidermal Growth Factor Receptor (EGFR) and Death-Domain Associated Protein (DAXX) in Breast Carcinoma Tissues.
  6. DAXX, ATRX, and MSI in PanNET and Their Metastases: Correlation with Histopathological Data and Prognosis.
    Title: DAXX, ATRX, and MSI in PanNET and Their Metastases: Correlation with Histopathological Data and Prognosis.
  7. Death domain-associated protein DAXX regulates noncoding RNA transcription at the centromere through the transcription regulator ZFAT.
    Title: Death domain-associated protein DAXX regulates noncoding RNA transcription at the centromere through the transcription regulator ZFAT.
  8. Reciprocal regulation of Daxx and PIK3CA promotes colorectal cancer cell growth.
    Title: Reciprocal regulation of Daxx and PIK3CA promotes colorectal cancer cell growth.
  9. Prognostic Significance of Altered ATRX/DAXX Gene in Pancreatic Neuroendocrine Tumors: A Meta-Analysis.
    Title: Prognostic Significance of Altered ATRX/DAXX Gene in Pancreatic Neuroendocrine Tumors: A Meta-Analysis.
  10. Morc3 silences endogenous retroviruses by enabling Daxx-mediated histone H3.3 incorporation.
    Title: Morc3 silences endogenous retroviruses by enabling Daxx-mediated histone H3.3 incorporation.
Submit: New GeneRIF Correction See all GeneRIFs (189)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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General gene information

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Homology

Clone Names

  • MGC126245, MGC126246

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA polymerase II-specific DNA-binding transcription factor binding PubMed 
enables enzyme binding PubMed 
enables heat shock protein binding PubMed 
enables histone binding  
enables histone binding PubMed 
enables molecular condensate scaffold activity PubMed 
enables nuclear androgen receptor binding  
enables nuclear androgen receptor binding PubMed 
enables p53 binding PubMed 
enables protein binding PubMed 
enables protein homodimerization activity PubMed 
enables protein kinase activator activity PubMed 
enables protein kinase binding PubMed 
enables transcription coactivator activity  
enables transcription coactivator activity PubMed 
enables transcription corepressor activity  
enables transcription corepressor activity PubMed 
enables transcription corepressor activity PubMed 
enables transcription regulator inhibitor activity PubMed 
enables ubiquitin protein ligase binding PubMed 
Process Evidence Code Pubs
involved_in JNK cascade PubMed 
involved_in androgen receptor signaling pathway PubMed 
involved_in cellular response to cadmium ion PubMed 
involved_in cellular response to copper ion PubMed 
involved_in cellular response to diamide PubMed 
involved_in cellular response to heat PubMed 
involved_in cellular response to sodium arsenite PubMed 
involved_in cellular response to unfolded protein PubMed 
involved_in chromatin remodeling PubMed 
involved_in extrinsic apoptotic signaling pathway via death domain receptors PubMed 
involved_in negative regulation of DNA-templated transcription  
involved_in negative regulation of DNA-templated transcription PubMed 
involved_in negative regulation of gene expression PubMed 
involved_in neuron intrinsic apoptotic signaling pathway in response to oxidative stress PubMed 
involved_in nucleosome assembly  
involved_in nucleosome assembly PubMed 
involved_in positive regulation of DNA-templated transcription  
involved_in positive regulation of protein phosphorylation PubMed 
acts_upstream_of_or_within regulation of DNA-templated transcription PubMed 
involved_in regulation of apoptotic process  
involved_in regulation of gene expression PubMed 
involved_in regulation of protein ubiquitination PubMed 
Component Evidence Code Pubs
is_active_in PML body  
located_in PML body PubMed 
located_in PML body PubMed 
located_in chromosome, centromeric region PubMed 
located_in cytosol  
located_in nuclear body  
located_in nucleolus  
located_in nucleoplasm  
located_in nucleoplasm  
is_active_in nucleus  
is_active_in nucleus PubMed 
located_in nucleus PubMed 
located_in nucleus PubMed 

General protein information

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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)

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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_001141969.2 → NP_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
    B4E1I3, F5ANJ6, F5ANJ7, F5H082, O14747, O15141, O15208, Q5STK9, Q9BWI3, Q9UER7
    UniProtKB/TrEMBL
    A0A024RCS3, B2R7M0
    Related
    ENSP00000363668.5, ENST00000374542.10
    Conserved Domains (2) summary
    cd13150
    Location:183 → 387
    DAXX_histone_binding; Histone binding domain of the death-domain associated protein (DAXX)
    pfam03344
    Location:56 → 146
    Daxx; Daxx N-terminal Rassf1C-interacting domain

  2. NM_001141970.2 → NP_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
    Consensus CDS
    CCDS93890.1
    UniProtKB/TrEMBL
    B2R7M0, B4E1C1
    Related
    ENSP00000516212.1, ENST00000706094.1
    Conserved Domains (2) summary
    cd13150
    Location:195 → 399
    DAXX_histone_binding; Histone binding domain of the death-domain associated protein (DAXX)
    pfam03344
    Location:68 → 158
    Daxx; Daxx N-terminal Rassf1C-interacting domain

  3. NM_001254717.2 → NP_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/TrEMBL
    B2R7M0
    Related
    ENSP00000396876.2, ENST00000414083.6
    Conserved Domains (2) summary
    cd13150
    Location:108 → 312
    DAXX_histone_binding; Histone binding domain of the death-domain associated protein (DAXX)
    cl23986
    Location:1 → 71
    DAXX_helical_bundle; Helical bundle domain of the death-domain associated protein (DAXX)

  4. NM_001350.5 → NP_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
    B4E1I3, F5ANJ6, F5ANJ7, F5H082, O14747, O15141, O15208, Q5STK9, Q9BWI3, Q9UER7
    UniProtKB/TrEMBL
    A0A024RCS3, B2R7M0
    Related
    ENSP00000266000.6, ENST00000266000.10
    Conserved Domains (2) summary
    cd13150
    Location:183 → 387
    DAXX_histone_binding; Histone binding domain of the death-domain associated protein (DAXX)
    pfam03344
    Location:56 → 146
    Daxx; Daxx N-terminal Rassf1C-interacting domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005248860.4 → XP_005248917.1  death domain-associated protein 6 isoform X1

    See identical proteins and their annotated locations for XP_005248917.1

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

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

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

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

Reference GRCh38.p14 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

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

Reference GRCh38.p14 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    33139920..33144321 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Protein Accession Links
GenPept Link UniProtKB Link
Q9UER7.2 GenPept UniProtKB/Swiss-Prot:Q9UER7

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