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Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX)

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ATR2; MRXS3; RAD54; RAD54L; SHS; XH2; XNP; ZNF-HX; ATP-Dependent Helicase ATRX,X-Linked Helicase II; X-Linked Nuclear Protein; Transcriptional regulator ATRX

Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX)
CCC K248
HGNC 886
MGI 103067
PubMed 22869205
RGD 619795
UniProt P46100
Wiki ATRX
ATRX contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. The mutations of 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. 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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPK248Hu01 Recombinant Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) Positive Control; Immunogen; SDS-PAGE; WB.
RPK248Hu02 Recombinant Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) CLIA Kit Customized Service Offer
n/a ELISA Kit for Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) CLIA Kit Customized Service Offer
n/a ELISA Kit for Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) CLIA Kit Customized Service Offer
n/a ELISA Kit for Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked (aTRX) ELISA Kit Customized Service Offer
  1. "ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome."Hum. Mol. Genet. 5:1899-1907(1996) [PubMed] [Europe PMC] [Abstract]
  2. "Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase."Genomics 43:149-155(1997) [PubMed] [Europe PMC] [Abstract]
  3. "Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees."Mol. Biol. Evol. 20:1281-1289(2003) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  5. "Cloning and characterization of a new human Xq13 gene, encoding a putative helicase."Hum. Mol. Genet. 3:1957-1964(1994) [PubMed] [Europe PMC] [Abstract]
  6. "Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3."Hum. Mol. Genet. 3:39-44(1994) [PubMed] [Europe PMC] [Abstract]
  7. "Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)."Cell 80:837-845(1995) [PubMed] [Europe PMC] [Abstract]
  8. "Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein."Hum. Mol. Genet. 7:679-684(1998) [PubMed] [Europe PMC] [Abstract]
  9. "Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes."Proc. Natl. Acad. Sci. U.S.A. 96:13983-13988(1999) [PubMed] [Europe PMC] [Abstract]
  10. "Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome."Am. J. Med. Genet. 91:83-85(2000) [PubMed] [Europe PMC] [Abstract]
  11. "Cell cycle-dependent phosphorylation of the ATRX protein correlates with changes in nuclear matrix and chromatin association."Hum. Mol. Genet. 9:539-547(2000) [PubMed] [Europe PMC] [Abstract]
  12. "Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS)."Nat. Genet. 34:446-449(2003) [PubMed] [Europe PMC] [Abstract]
  13. "The ATRX syndrome protein forms a chromatin-remodeling complex with Daxx and localizes in promyelocytic leukemia nuclear bodies."Proc. Natl. Acad. Sci. U.S.A. 100:10635-10640(2003) [PubMed] [Europe PMC] [Abstract]
  14. "A novel transcription regulatory complex containing death domain-associated protein and the ATR-X syndrome protein."J. Biol. Chem. 279:20369-20377(2004) [PubMed] [Europe PMC] [Abstract]
  15. "The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain."Biochem. Biophys. Res. Commun. 331:929-937(2005) [PubMed] [Europe PMC] [Abstract]
  16. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
  17. "Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation."Proc. Natl. Acad. Sci. U.S.A. 104:2709-2714(2007) [PubMed] [Europe PMC] [Abstract]
  18. "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract]
  19. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  20. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
  21. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
  22. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
  23. "ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner." Cell 143:367-378(2010) [PubMed] [Europe PMC] [Abstract]
  24. "Distinct factors control histone variant H3.3 localization at specific genomic regions." Cell 140:678-691(2010) [PubMed] [Europe PMC] [Abstract]
  25. "The death-associated protein DAXX is a novel histone chaperone involved in the replication-independent deposition of H3.3."Genes Dev. 24:1253-1265(2010) [PubMed] [Europe PMC] [Abstract]
  26. "Daxx is an H3.3-specific histone chaperone and cooperates with ATRX in replication-independent chromatin assembly at telomeres."Proc. Natl. Acad. Sci. U.S.A. 107:14075-14080(2010) [PubMed] [Europe PMC] [Abstract]
  27. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  28. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  29. "The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9."Hum. Mol. Genet. 20:2195-2203(2011) [PubMed] [Europe PMC] [Abstract]
  30. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
  31. "ATRX-mediated chromatin association of histone variant macroH2A1 regulates alpha-globin expression."Genes Dev. 26:433-438(2012) [PubMed] [Europe PMC] [Abstract]
  32. "Loss of ATRX, genome instability, and an altered DNA damage response are hallmarks of the alternative lengthening of telomeres pathway." PLoS Genet. 8:E1002772-E1002772(2012) [PubMed] [Europe PMC] [Abstract]
  33. "DAXX-dependent supply of soluble (H3.3-H4) dimers to PML bodies pending deposition into chromatin."Genome Res. 23:440-451(2013) [PubMed] [Europe PMC] [Abstract]
  34. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  35. "Alternative lengthening of telomeres is characterized by reduced compaction of telomeric chromatin."Nucleic Acids Res. 42:4391-4405(2014) [PubMed] [Europe PMC] [Abstract]
  36. "ATRX dysfunction induces replication defects in primary mouse cells."PLoS ONE 9:E92915-E92915(2014) [PubMed] [Europe PMC] [Abstract]
  37. "Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX."Proc. Natl. Acad. Sci. U.S.A. 104:11939-11944(2007) [PubMed] [Europe PMC] [Abstract]
  38. "ATRX ADD domain links an atypical histone methylation recognition mechanism to human mental-retardation syndrome."Nat. Struct. Mol. Biol. 18:769-776(2011) [PubMed] [Europe PMC] [Abstract]
  39. "Combinatorial readout of histone H3 modifications specifies localization of ATRX to heterochromatin."Nat. Struct. Mol. Biol. 18:777-782(2011) [PubMed] [Europe PMC] [Abstract]
  40. "A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia."Eur. J. Hum. Genet. 4:316-320(1996) [PubMed] [Europe PMC] [Abstract]
  41. "XNP mutation in a large family with Juberg-Marsidi syndrome."Nat. Genet. 12:359-360(1996) [PubMed] [Europe PMC] [Abstract]
  42. "Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain."Nat. Genet. 17:146-148(1997) [PubMed] [Europe PMC] [Abstract]
  43. "New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome."Hum. Mutat. 12:214-214(1998) [PubMed] [Europe PMC] [Abstract]
  44. "Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias."Am. J. Hum. Genet. 65:558-562(1999) [PubMed] [Europe PMC] [Abstract]
  45. "Carpenter-Waziri syndrome results from a mutation in XNP."Am. J. Med. Genet. 85:249-251(1999) [PubMed] [Europe PMC] [Abstract]
  46. "Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome."J. Med. Genet. 36:183-186(1999) [PubMed] [Europe PMC] [Abstract]
  47. "Molecular genetic study of Japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X)."Am. J. Med. Genet. 94:242-248(2000) [PubMed] [Europe PMC] [Abstract]
  48. "Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome."Am. J. Med. Genet. 94:383-385(2000) [PubMed] [Europe PMC] [Abstract]
  49. "Expanding phenotype of XNP mutations: mild to moderate mental retardation."Am. J. Med. Genet. 110:243-247(2002) [PubMed] [Europe PMC] [Abstract]
  50. "Asplenia in ATR-X syndrome: a second report."Am. J. Med. Genet. A 139:37-39(2005) [PubMed] [Europe PMC] [Abstract]
  51. "A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation."Neurogenetics 6:45-47(2005) [PubMed] [Europe PMC] [Abstract]
  52. "ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern."Am. J. Med. Genet. A 140:2212-2215(2006) [PubMed] [Europe PMC] [Abstract]