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

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; 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: mouse all
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Genomic context

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
Reciprocal regulation of Daxx and PIK3CA promotes colorectal cancer cell growth.
Title: Reciprocal regulation of Daxx and PIK3CA promotes colorectal cancer cell growth.
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.
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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA polymerase II-specific DNA-binding transcription factor binding	IDA Inferred from Direct Assay 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
enables histone binding	IDA Inferred from Direct Assay more info	PubMed
enables molecular condensate scaffold activity	EXP Inferred from Experiment more info	PubMed
enables nuclear androgen receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables nuclear androgen receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables p53 binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay 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 transcription coactivator activity	IBA Inferred from Biological aspect of Ancestor more info
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
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 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 JNK cascade	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in neuron intrinsic apoptotic signaling pathway in response to oxidative stress	IGI Inferred from Genetic Interaction more info	PubMed
involved_in nucleosome assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in nucleosome assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein phosphorylation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein ubiquitination	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
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	IBA Inferred from Biological aspect of Ancestor 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
located_in nucleus	IMP Inferred from Mutant Phenotype more info	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)

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
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
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)
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