Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Atrx. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. The mutations of this gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Atrx
  • performs the following molecular functions:
    • chromatin binding ^[7]
  • is located in the following cellular components:
    • heterochromatin ^{[2, 3, 5]}
    • nuclear chromosome ^[6]
    • nucleus ^[5]
• The gene product of Atrx has been shown to bind to the gene products of Cbx1, Cbx5, Daxx, Mecp2. ^{[3, 4, 5]}
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Atrx
  • participates in the following biological processes:
    • forebrain development ^[1]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Atrx:
  • performs the following molecular functions:
    • chromo shadow domain binding

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Summary text based on GO annotations supported by structural data

• Atrx encodes a protein or proteins that contain the following InterPro domains: ADD domain, Helicase, C-terminal, Helicase, superfamily 1/2, ATP-binding domain, SNF2-related, Zinc finger, FYVE/PHD-type, Zinc finger, RING-type, Zinc finger, RING/FYVE/PHD-type, indicating that the gene product:
  • performs the following molecular functions:
    • ATP binding
    • DNA binding
    • helicase activity
    • nucleic acid binding
    • zinc ion binding

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Atrx indicates that it:
  • participates in the following biological processes:
    • DNA repair
    • response to DNA damage stimulus
  • performs the following molecular functions:
    • ATP binding
    • DNA binding
    • helicase activity
    • hydrolase activity
    • metal ion binding
    • nucleotide binding

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References

1. Berube NG et al. (2005) The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis. J Clin Invest, 115:258-67. (PubMed:15668733)
2. Craig JM et al. (2003) Analysis of mammalian proteins involved in chromatin modification reveals new metaphase centromeric proteins and distinct chromosomal distribution patterns. Hum Mol Genet, 12:3109-21. (PubMed:14519686)
3. Ishov AM et al. (2004) Heterochromatin and ND10 are cell-cycle regulated and phosphorylation-dependent alternate nuclear sites of the transcription repressor Daxx and SWI/SNF protein ATRX. J Cell Sci, 117:3807-20. (PubMed:15252119)
4. Le Douarin B et al. (1996) A possible involvement of TIF1 alpha and TIF1 beta in the epigenetic control of transcription by nuclear receptors. EMBO J, 15:6701-15. (PubMed:8978696)
5. Nan X et al. (2007) Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. Proc Natl Acad Sci U S A, 104:2709-14. (PubMed:17296936)
6. Sutherland HG et al. (2001) Large-scale identification of mammalian proteins localized to nuclear sub-compartments. Hum Mol Genet, 10:1995-2011. (PubMed:11555636)
7. Wang L et al. (2004) Identification of potential nuclear reprogramming and differentiation factors by a novel selection method for cloning chromatin-binding proteins. Biochem Biophys Res Commun, 325:302-7. (PubMed:15522233)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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