ATRX

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ATRX
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases ATRX, ATR2, JMS, MRXHF1, RAD54, RAD54L, SFM1, SHS, XH2, XNP, ZNF-HX, MRX52, alpha thalassemia/mental retardation syndrome X-linked
External IDs MGI: 103067 HomoloGene: 416 GeneCards: 546
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000489
NM_138270
NM_138271

NM_009530

RefSeq (protein)

NP_000480.3
NP_612114.2

NP_033556.2

Location (UCSC) Chr X: 77.5 – 77.79 Mb Chr X: 105.8 – 105.93 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Transcriptional regulator ATRX also known as ATP-dependent helicase ATRX, X-linked helicase II, or X-linked nuclear protein (XNP) is a protein that in humans is encoded by the ATRX gene.[3][4][5]

Function[edit]

Transcriptional regulator ATRX 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.[5]

Clinical significance[edit]

Mutations of the ATRX 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. Female carriers may demonstrate skewed X chromosome inactivation.[5]

Interactions[edit]

ATRX has been shown to interact with EZH2.[6]

See also[edit]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Stayton CL, Dabovic B, Gulisano M, Gecz J, Broccoli V, Giovanazzi S, Bossolasco M, Monaco L, Rastan S, Boncinelli E (April 1995). "Cloning and characterization of a new human Xq13 gene, encoding a putative helicase". Hum Mol Genet. 3 (11): 1957–64. doi:10.1093/hmg/3.11.1957. PMID 7874112. 
  4. ^ Gibbons RJ, Suthers GK, Wilkie AO, Buckle VJ, Higgs DR (November 1992). "X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis". Am J Hum Genet. 51 (5): 1136–49. PMC 1682840free to read. PMID 1415255. 
  5. ^ a b c "Entrez Gene: ATRX alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)". 
  6. ^ Cardoso C, Timsit S, Villard L, Khrestchatisky M, Fontès M, Colleaux L (1998). "Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein". Hum. Mol. Genet. 7 (4): 679–84. doi:10.1093/hmg/7.4.679. PMID 9499421. 

Further reading[edit]

External links[edit]