QuickView for ATRX (gene)

Gene Symbol:

ATRX Homo sapiens

Full name:

ATRX, chromatin remodeler

Synonyms:

JMS, MRX52, RAD54, RAD54L, XH2, XNP, ZNF-HX, transcriptional regulator ATRX, ATP-dependent helicase ATRX, X-linked helicase II, X-linked nuclear protein, alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)

Genomic Location:

Chr X: 76647012-76928375

Description:

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 ch...

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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 X-linked syndromes exhibiting cognitive disabilities as well as 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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

ACTGTAG_MIR139 ,  TTTGCAC_MIR19A_MIR19B ,  SMTTTTGT_UNKNOWN ,  TCANNTGAY_SREBP1_01 ,  ATGTCAC_MIR489 ,  E2F1_Q4_01 ,  GTACTGT_MIR101 ,  TTGCACT_MIR130A_MIR301_MIR130B ,  CYTAGCAAY_UNKNOWN ,  GCCATNTTG_YY1_Q6 ,  GTGCAAT_MIR25_MIR32_MIR92_MIR363_MIR367 ,  GCTGAGT_MIR5125P ,  CEBP_01 ,  CAGCTTT_MIR320 ,  TST1_01 ,  SRF_Q4 ,  ATGTTTC_MIR494 ,  CCAWNWWNNNGGC_UNKNOWN ,  NFY_Q6 ,  AAAGACA_MIR511 ,  E2F1DP1RB_01 ,  CAGTATT_MIR200B_MIR200C_MIR429 ,  TGATTTRY_GFI1_01 ,  CTTTGT_LEF1_Q2 ,  CDC5_01 ,  GGCAGTG_MIR3243P ,  E2F_Q3 ,  CCAWWNAAGG_SRF_Q4 ,  ACCATTT_MIR522

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-101 ,  Predicted Gene Targets for miR-130 ,  Predicted Gene Targets for miR-139 ,  Predicted Gene Targets for miR-144 ,  Predicted Gene Targets for miR-145 ,  Predicted Gene Targets for miR-189 ,  Predicted Gene Targets for miR-19 ,  Predicted Gene Targets for miR-199 ,  Predicted Gene Targets for miR-200b ,  Predicted Gene Targets for miR-224 ,  Predicted Gene Targets for miR-25 ,  Predicted Gene Targets for miR-27 ,  Predicted Gene Targets for miR-320 ,  Predicted Gene Targets for miR-324-3p ,  Predicted Gene Targets for miR-325 ,  Predicted Gene Targets for miR-381 ,  Predicted Gene Targets for miR-494 ,  Predicted Gene Targets for miR-7 ,  Predicted Gene Targets for miR-124u ,  Predicted Gene Targets for miR-410

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Cytogenetic Map:

Xq21.1

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