NP_000480.3
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
transcriptional regulator ATRX isoform 1
NCBI Official Synonym Full Names
ATRX, chromatin remodeler
NCBI Official Synonym Symbols
JMS; SHS; XH2; XNP; ATR2; SFM1; MRX52; RAD54; MRXHF1; RAD54L; ZNF-HX [Similar Products]
NCBI Protein Information
transcriptional regulator ATRX
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 ATRX
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 ATRX
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: DNA repair, damage; EC 3.6.4.12; Ubiquitin conjugating system; Helicase
Chromosomal Location of Human Ortholog: Xq21.1
Cellular Component: centric heterochromatin; nuclear chromosome, telomeric region; nuclear heterochromatin; nucleus; PML body
Molecular Function: 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
Research Articles on ATRX
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with anti-ATRX antibody
Diseases associated with anti-ATRX antibody
Organs/Tissues associated with anti-ATRX antibody
|