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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.
Protein class
Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Transcription factors
Predicted location
Intracellular
Single cell type specificity
Low cell type specificity
Immune cell specificity
Low immune cell specificity
Cell line specificity
Low cell line specificity
Interaction
Interacts with DAXX to form the chromatin remodeling complex ATRX:DAXX. Probably binds EZH2. Binds annexin V in a calcium and phosphatidylcholine/phosphatidylserine-dependent manner. Interacts directly with CBX5 via the PxVxL motif. Interacts with RAD50, MRE11 and NBN; indicative for an association with the MRN complex. Interacts with histone MACROH2A1. Interacts with histone H3 peptides methylated at 'Lys-10' with preferences H3K9me3> H3K9me2> H3K9me1. Interacts with histone H3 peptides unmethylated at 'Lys-5' (H3K4me0). Interacts with MECP2, SMC1 and SMC3. Interacts with SETDB1, TRIM28 and ZNF274 (PubMed:27029610).
Molecular function
Chromatin regulator, DNA-binding, Helicase, Hydrolase
More Types Infomation
- Mouse Anti-ATRX Recombinant Antibody (clone 5B3) (MOB-0866MZ)
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- Species Reactivity: Human
- Type: Mouse IgG1
- Application: WB
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- Derivation: Mouse
- Species Reactivity: Human
- Type: Mouse IgG2a, κ
- Application: WB, IP, IF, IHC, ELISA
- Rabbit Anti-ATRX Recombinant Antibody (clone AFY0001) (MOR-0030-FY)
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- Species Reactivity: Human, Mouse
- Type: Rabbit IgG
- Application: ICC, IHC-P, WB
- Mouse Anti-ATRX Recombinant Antibody (clone 2-E7) (MRO-0143-CN)
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- Species Reactivity: Mouse
- Type: Mouse IgG1
- Application: IF, IHC
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For Research Use Only. Not For Clinical Use.