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

Gene ID: 1616, updated on 17-Jun-2019

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

Genomic context

See DAXX in Genome Data Viewer
Location:
6p21.32
Exon count:
8
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (33318558..33323016, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (33286335..33290793, 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 myosin light chain 8, pseudogene

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 FunctionsWhat'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 BioSystems

  • Amyotrophic lateral sclerosis (ALS), organism-specific biosystem (from KEGG)
    Amyotrophic lateral sclerosis (ALS), organism-specific biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
  • Amyotrophic lateral sclerosis (ALS), organism-specific biosystem (from WikiPathways)
    Amyotrophic lateral sclerosis (ALS), organism-specific biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
  • Amyotrophic lateral sclerosis (ALS), conserved biosystem (from KEGG)
    Amyotrophic lateral sclerosis (ALS), conserved biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
  • Androgen receptor signaling pathway, organism-specific biosystem (from WikiPathways)
    Androgen receptor signaling pathway, organism-specific biosystemAndrogens, mainly testosterone and 5alpha-dihydrotestosterone (DHT) play significant role in the growth and development of the male reproductive organs. These steroid hormones bring about their biolo...
  • Apoptosis, organism-specific biosystem (from KEGG)
    Apoptosis, organism-specific biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
  • Apoptosis, conserved biosystem (from KEGG)
    Apoptosis, conserved biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
  • Apoptosis Modulation and Signaling, organism-specific biosystem (from WikiPathways)
    Apoptosis Modulation and Signaling, organism-specific biosystemApoptosis, or cell death program, can be activated by various mechanisms within the extrinsic and the intrinsic pathway. While activation of cell death receptors leads to the engagement of the extrin...
  • Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation, organism-specific biosystem (from WikiPathways)
    Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation, organism-specific biosystemThis pathway describes the Fas induced apoptosis and interplay with Hsp27 in response to stress. More info: [http://www.biocarta.com/pathfiles/h_hsp27Pathway.asp BioCarta].
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • HIV-1 Nef: Negative effector of Fas and TNF-alpha, organism-specific biosystem (from Pathway Interaction Database)
    HIV-1 Nef: Negative effector of Fas and TNF-alpha, organism-specific biosystem
    HIV-1 Nef: Negative effector of Fas and TNF-alpha
  • Herpes simplex infection, organism-specific biosystem (from KEGG)
    Herpes simplex infection, organism-specific biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
  • Herpes simplex infection, conserved biosystem (from KEGG)
    Herpes simplex infection, conserved biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
  • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
  • MAPK Signaling Pathway, organism-specific biosystem (from WikiPathways)
    MAPK Signaling Pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • MAPK signaling pathway, organism-specific biosystem (from KEGG)
    MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • MAPK signaling pathway, conserved biosystem (from KEGG)
    MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • Regulation of TP53 Activity, organism-specific biosystem (from REACTOME)
    Regulation of TP53 Activity, organism-specific biosystemProtein stability and transcriptional activity of TP53 (p53) tumor suppressor are regulated by post-translational modifications that include ubiquitination, phosphorylation, acetylation, methylation,...
  • Regulation of TP53 Degradation, organism-specific biosystem (from REACTOME)
    Regulation of TP53 Degradation, organism-specific biosystemIn unstressed cells, TP53 (p53) has a short half-life as it undergoes rapid ubiquitination and proteasome-mediated degradation. The E3 ubiquitin ligase MDM2, which is a transcriptional target of TP53...
  • Regulation of TP53 Expression and Degradation, organism-specific biosystem (from REACTOME)
    Regulation of TP53 Expression and Degradation, organism-specific biosystemTP53 (p53) tumor suppressor protein is a transcription factor that functions as a homotetramer (Jeffrey et al. 1995). The protein levels of TP53 are low in unstressed cells due to MDM2-mediated ubiqu...
  • TGF-beta receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
    TGF-beta receptor signaling, organism-specific biosystem
    TGF-beta receptor signaling
  • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
    Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
  • p38 MAPK Signaling Pathway, organism-specific biosystem (from WikiPathways)
    p38 MAPK Signaling Pathway, organism-specific biosystemp38 MAPKs are members of the MAPK family that are activated by a variety of environmental stresses and inflammatory cytokines. Stress signals are delivered to this cascade by members of small GTPases...
  • p53 pathway, organism-specific biosystem (from Pathway Interaction Database)
    p53 pathway, organism-specific biosystem
    p53 pathway

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

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_001254717.1NP_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 Annotation Release 109

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..33323016 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..4734505 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..4566535 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..4758950 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..4517446 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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