NP_000480.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
151,556 Da
NCBI Official Full Name
transcriptional regulator ATRX isoform 1
NCBI Official Synonym Full Names
alpha thalassemia/mental retardation syndrome X-linked
NCBI Official Synonym Symbols
JMS; SHS; XH2; XNP; ATR2; SFM1; RAD54; MRXHF1; RAD54L; ZNF-HX [Similar Products]
NCBI Protein Information
transcriptional regulator ATRX; X-linked helicase II; Zinc finger helicase; helicase 2, X-linked; X-linked nuclear protein; ATP-dependent helicase ATRX; DNA dependent ATPase and helicase; alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)
UniProt Protein Name
Transcriptional regulator ATRX
UniProt Synonym Protein Names
ATP-dependent helicase ATRX; X-linked helicase II; X-linked nuclear protein; XNP; Znf-HX
UniProt Synonym Gene Names
UniProt Entry Name
ATRX_HUMAN
NCBI Summary for RAD54
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]
UniProt Comments for RAD54
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.
Protein type: EC 3.6.4.12; Helicase; Ubiquitin conjugating system; DNA repair, damage
Chromosomal Location of Human Ortholog: Xq21.1
Cellular Component: nucleoplasm; PML body; nuclear heterochromatin; nucleus
Molecular Function: DNA helicase activity; protein binding; DNA binding; zinc ion binding; histone binding; chromatin binding; helicase activity; DNA translocase activity; ATP binding; methylated histone residue binding
Biological Process: DNA damage response, signal transduction by p53 class mediator; transcription, DNA-dependent; positive regulation of telomere maintenance; DNA repair; Sertoli cell development; DNA duplex unwinding; replication fork processing; DNA recombination; chromatin remodeling; nucleosome assembly; regulation of transcription, DNA-dependent; DNA replication-independent nucleosome assembly; forebrain development; DNA methylation; positive regulation of transcription from RNA polymerase II promoter; spermatogenesis
Disease: Alpha-thalassemia/mental Retardation Syndrome, X-linked; Mental Retardation-hypotonic Facies Syndrome, X-linked, 1; Alpha-thalassemia Myelodysplasia Syndrome
Research Articles on RAD54
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Diseases associated with anti-RAD54 antibody
Organs/Tissues associated with anti-RAD54 antibody
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