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Description for Protein ATRX

alpha thalassemia/mental retardation syndrome X-linked
18 total interacting proteins; 8 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
  • DEXDc: DEAD-like helicases superfamily
  • HELIC: helicase superfamily c-terminal domain
  • RING: Ring finger
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.6.1.-
    KEGG - Orthology:
    K10779
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Transcriptional regulator ATRX; Helicase 2 X linked; XH2; X linked helicase II; X linked nuclear protein; Zinc finger helicase; XNP; SHS; ATR2; MRXS3; RAD54; RAD54L; Transcriptional regulator ATRX isoform 2; Transcriptional regulator ATRX isoform 3; Transcriptional regulator ATRX isoform 1
    Approved Symbol:
    ATRX
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 210
    Human (de-) phosphorylation sites: 210; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Alpha-thalassemia myelodysplasia syndrome, somatic(Pd);
  • Alpha-thalassemia/mental retardation syndrome, X-linked(Pd);
  • Mental retardation-hypotonic facies syndrome, X-linked(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02069 Entrez Gene ID: 546 OMIM ID: 300032 Swissprot Accession: P46100;