ATRX - Transcriptional regulator ATRX - human protein (Function)
 
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ATRX »  Transcriptional regulator ATRX   [ EC 3.6.4.12 ]
 
Protein also known as:  ATP-dependent helicase ATRX.
Gene name:  ATRX
Family name: SNF2/RAD54 helicase
Entry whose protein(s) existence is based on evidence at protein level
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1 101 6
GENE REF ISO

Function

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Overview 
Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both telomeres and euchromatin and in vitro binds DNA quadruplex structures. May help stabilizing G-rich regions into regular chromatin structures by remodeling G4 DNA and incorporating H3.3-containing nucleosomes. Catalytic 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. Its heterochromatin targeting is proposed to involve a combinatorial readout of histone H3 modifications (specifically methylation states of H3K9 and H3K4) and association with CBX5. Involved in maintaining telomere structural integrity in embryonic stem cells which probably implies recruitment of CBX5 to telomers. Reports on the involvement in transcriptional regulation of telomeric repeat-containing RNA (TERRA) are conflicting; according (PubMed24500201) is not sufficient to decrease chromatin condensation at telomers nor to increase expression of telomeric RNA in fibroblasts. May be involved in telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines. Acts as negative regulator of chromatin incorporation of transcriptionally repressive histone H2AFY, particularily at telomeres and the alpha-globin cluster in erythroleukemic cells. Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus. On the maternal allele, required for the chromatin occupancy of SMC1 and CTCTF within the H19 imprinting control region (ICR) and involved in esatblishment of histone tails modifications in the ICR. May be involved in brain development and facial morphogenesis.  
9
  • UniProtKB
GO molecular function 
ATP bindingdefinition[GO:0005524]  
1
  • UniProtKB KW
Chromatin bindingdefinition[GO:0003682] silver  
1
  • Ortholog Compara
Chromo shadow domain bindingdefinition[GO:0070087]  
1
  • BHF-UCL
DNA bindingdefinition[GO:0003677]  
1
  • UniProtKB KW
DNA helicase activitydefinition[GO:0003678]  
1
  • PINC
DNA translocase activitydefinition[GO:0015616]  
1
  • UniProtKB
Helicase activitydefinition[GO:0004386]  
1
  • PINC
Histone bindingdefinition[GO:0042393]  
1
  • UniProtKB
Methylated histone bindingdefinition[GO:0035064]  
1
  • UniProtKB
Protein bindingdefinition[GO:0005515]  
4
  • IntAct
  • UniProtKB
Zinc ion bindingdefinition[GO:0008270] silver  
1
  • InterPro 2 GO
GO biological process 
ATP catabolic processdefinition[GO:0006200]  
1
  • GOC
Cellular response to hydroxyureadefinition[GO:0072711]  
1
  • Ortholog Curator
Chromatin remodelingdefinition[GO:0006338]  
1
  • UniProtKB
DNA damage response, signal transduction by p53 class mediatordefinition[GO:0030330]  
1
  • Ortholog Curator
DNA duplex unwindingdefinition[GO:0032508]  
1
  • GOC
DNA methylationdefinition[GO:0006306]  
1
  • PINC
DNA recombinationdefinition[GO:0006310]  
1
  • PINC
DNA repairdefinition[GO:0006281]  
1
  • UniProtKB KW
DNA replication-independent nucleosome assemblydefinition[GO:0006336]  
1
  • UniProtKB
Forebrain developmentdefinition[GO:0030900] silver  
1
  • Ortholog Compara
Negative regulation of telomeric RNA transcription from RNA pol II promoterdefinition[GO:1901581]  
1
  • Ortholog Curator
Nucleosome assemblydefinition[GO:0006334]  
1
  • UniProtKB
Positive regulation of nuclear cell cycle DNA replicationdefinition[GO:0010571]  
1
  • Ortholog Curator
Positive regulation of telomere maintenancedefinition[GO:0032206]  
1
  • Ortholog Curator
Positive regulation of transcription from RNA polymerase II promoterdefinition[GO:0045944]  
1
  • UniProtKB
Regulation of transcription, DNA-templateddefinition[GO:0006355]  
1
  • PINC
Replication fork processingdefinition[GO:0031297]  
1
  • Ortholog Curator
Seminiferous tubule developmentdefinition[GO:0072520] silver  
1
  • Ortholog Compara
Sertoli cell developmentdefinition[GO:0060009] silver  
1
  • Ortholog Compara
Spermatogenesisdefinition[GO:0007283] silver  
1
  • Ortholog Compara
Transcription, DNA-templateddefinition[GO:0006351]  
1
  • UniProtKB KW
Enzymatic activity 
This protein acts as an enzyme. It is known to catalyze the following reaction
EC 3.6.4.12: ATP + H(2)O ADP + phosphate.  
1
  • UniProtKB
 

Keywords

Biological process 
DNA damage  definition   [KW-0227]
DNA repair  definition   [KW-0234]
Transcription  definition   [KW-0804]
Transcription regulation  definition   [KW-0805]
Molecular function 
Chromatin regulator  definition   [KW-0156]
Helicase  definition   [KW-0347]
Hydrolase  definition   [KW-0378]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

GeneWiki: ATRX
GenomeRNAi: 546
PRO: PR:P46100