ATRX
ATRX (ATRX chromatin remodeler, also known as XH2, XNP, RAD54, JMS and MRX52) is a nuclear SNF2-family ATPase/helicase involved in chromatin remodelling and transcriptional regulation. It is the catalytic component of the ATRX:DAXX complex, which deposits histone H3.3 at telomeres and pericentric repeats. Browse Assay Genie's current range of ATRX research reagents below, or read on for the biology behind the target.
ATRX is involved in transcriptional regulation and chromatin remodelling. It is the catalytic component of the ATRX:DAXX chromatin remodelling complex, which has ATP-dependent DNA translocase activity. The complex catalyses replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S-phase and at telomeres, and remodels H3.3-containing nucleosomes in vitro. ATRX also facilitates DNA replication and is required for efficient replication of a subset of genomic loci.
The protein binds DNA tandem repeats in telomeres and euchromatin and, in vitro, binds DNA quadruplex structures. It may help stabilise G-rich regions in regular chromatin by remodelling G4 DNA and incorporating H3.3-containing nucleosomes. Its heterochromatin targeting is proposed to involve a combinatorial readout of histone H3 methylation states (H3K9 and H3K4) and association with CBX5. ATRX helps maintain telomere structural integrity in embryonic stem cells, may contribute to telomere maintenance by recombination in ALT cell lines, and negatively regulates incorporation of macroH2A1 at telomeres and the alpha-globin cluster in erythroleukaemic cells. It also participates in allele-specific expression at the imprinted IGF2/H19 locus, and with ZNF274, TRIM28 and SETDB1 it maintains H3K9me3 at the 3' exons of zinc-finger genes.
The ATRX gene encodes an ATPase/helicase domain protein of the SNF2/RAD54 family, hence the alias RAD54. The protein undergoes cell cycle-dependent phosphorylation that regulates its nuclear matrix and chromatin association. Mutations are associated with X-linked syndromes with cognitive disability, including alpha-thalassemia/mental retardation syndrome (ATRX syndrome), Juberg-Marsidi syndrome and MRX52, and alter DNA methylation patterns. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported.
ATRX:DAXX deposits histone H3.3 and remodels H3.3-containing nucleosomes, making it a central subject in chromatin dynamics research.
ATRX binds telomeric repeats, supports telomere integrity and may contribute to recombination-based telomere maintenance in ALT cell lines.
ATRX influences H3K9me3 at zinc-finger genes and chromatin occupancy at the IGF2/H19 imprinting control region.
Mutations in ATRX cause X-linked syndromes with cognitive disability and alpha-thalassemia, linking chromatin remodelling to development.
ATRX is a chromatin remodeller that, with DAXX, deposits histone H3.3 at telomeres and pericentric repeats. It also facilitates DNA replication, binds G-quadruplex DNA in vitro, and helps maintain H3K9me3 at zinc-finger gene 3' exons through a complex with ZNF274, TRIM28 and SETDB1.
ATRX is also known as XH2, XNP, RAD54, JMS and MRX52. Earlier names include alpha thalassemia/mental retardation syndrome X-linked, Juberg-Marsidi syndrome and mental retardation, X-linked 52. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported.
Mouse and rat both have an Atrx ortholog. In humans, ATRX mutations are associated with X-linked syndromes involving cognitive disability and alpha-thalassemia, and change DNA methylation patterns. Check the datasheet of any product for its validated reactivity.
Binding partners, histone variants and epigenetic regulators connected to ATRX function in chromatin and telomere biology.
Gene and protein annotations from HGNC, NCBI Gene and UniProt P46100; product specifications from Assay Genie datasheets.