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Protein Page:
ATRX (human)

ATRX a global transcriptional regulator. Belongs to the SNF2 family of proteins, many of which modify gene expression via chromatin remodeling activity. Involved in the developmental silencing of imprinted genes in the brain. Contains one PxVxL motif, which is required for interaction with chromoshadow domains. This motif requires additional residues at -7, -6, +4 and +5 relative to the central V which contact the chromoshadow domain. Constitutive mutations in ATRX are associated with brain, facial, and genital abnormalities, and alpha thalassemia. Acquired mutations in ATRX have been observed in preleukemic conditions. Six alternatively spliced human isoforms have been described. Note: This description may include information from UniProtKB.
Protein type: DNA repair, damage; EC; Helicase; Ubiquitin conjugating system
Chromosomal Location of Human Ortholog: Xq21.1
Cellular Component: centric heterochromatin; nuclear chromosome, telomeric region; nuclear heterochromatin; nucleus; PML body
Molecular Function: chromatin binding; DNA helicase activity; DNA translocase activity; helicase activity; histone binding; methylated histone residue binding; protein binding
Biological Process: chromatin remodeling; DNA damage response, signal transduction by p53 class mediator; DNA methylation; DNA recombination; DNA replication-independent nucleosome assembly; nucleosome assembly; positive regulation of telomere maintenance; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; replication fork processing
Disease: Alpha-thalassemia Myelodysplasia Syndrome; Alpha-thalassemia/mental Retardation Syndrome, X-linked; Mental Retardation-hypotonic Facies Syndrome, X-linked, 1
Reference #:  P46100 (UniProtKB)
Alt. Names/Synonyms: alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae); ATP-dependent helicase ATRX; ATR2; ATRX; DNA dependent ATPase and helicase; helicase 2, X-linked; MGC2094; MRXHF1; RAD54; RAD54L; SFM1; SHS; Transcriptional regulator ATRX; X-linked helicase II; X-linked nuclear protein; XH2; XNP; Zinc finger helicase; Znf-HX
Gene Symbols: ATRX
Molecular weight: 282,586 Da
Basal Isoelectric point: 6.2  Predict pI for various phosphorylation states
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