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Gene Ontology Classifications
Symbol
Name
ID
Atrx
alpha thalassemia/mental retardation syndrome X-linked homolog (human)
MGI:103067

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GO curators for mouse genes have assigned the following annotations to the gene product of Atrx. (This text reflects annotations as of Thursday, July 24, 2014.)
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. 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. Mutations in 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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Aug 2013]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
References
  1. . () , :. (PubMed:)
  2. Bagheri-Fam S et al. (2011) Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome. Hum Mol Genet, 20:2213-24. (PubMed:21427128)
  3. 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)
  4. Clynes D et al. (2014) ATRX dysfunction induces replication defects in primary mouse cells. PLoS One, 9:e92915. (PubMed:24651726)
  5. 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)
  6. Goldberg AD et al. (2010) Distinct factors control histone variant H3.3 localization at specific genomic regions. Cell, 140:678-91. (PubMed:20211137)
  7. 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)
  8. 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)
  9. 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)
  10. Sutherland HG et al. (2001) Large-scale identification of mammalian proteins localized to nuclear sub-compartments. Hum Mol Genet, 10:1995-2011. (PubMed:11555636)
  11. 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)
  12. Wong LH et al. (2010) ATRX interacts with H3.3 in maintaining telomere structural integrity in pluripotent embryonic stem cells. Genome Res, 20:351-60. (PubMed:20110566)



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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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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory