ATRX iso2 Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both telomeres and euchromatin and in vitro binds DNA quadruplex structures. May help stabilizing G-rich regions into regular chromatin structures by remodeling G4 DNA and incorporating H3.3-containing nucleosomes. Catalytic component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase activity and catalyzes the replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S-phase and telomeres, and the in vitro remodeling of H3.3-containing nucleosomes. Its heterochromatin targeting is proposed to involve a combinatorial readout of histone H3 modifications (specifically methylation states of H3K9 and H3K4) and association with CBX5. Involved in maintaining telomere structural integrity in embryonic stem cells which probably implies recruitment of CBX5 to telomeres. Reports on the involvement in transcriptional regulation of telomeric repeat-containing RNA (TERRA) are conflicting; according to a report, it is not sufficient to decrease chromatin condensation at telomeres nor to increase expression of telomeric RNA in fibroblasts. May be involved in telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines. Acts as negative regulator of chromatin incorporation of transcriptionally repressive histone H2AFY, particularily at telomeres and the alpha-globin cluster in erythroleukemic cells. Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus. On the maternal allele, required for the chromatin occupancy of SMC1 and CTCTF within the H19 imprinting control region (ICR) and involved in esatblishment of histone tails modifications in the ICR. May be involved in brain development and facial morphogenesis. Binds to zinc-finger coding genes with atypical chromatin signatures and regulates its H3K9me3 levels. Forms a complex with ZNF274, TRIM28 and SETDB1 to facilitate the deposition and maintenance of H3K9me3 at the 3' exons of zinc-finger genes. Belongs to the SNF2/RAD54 helicase family. Ubiquitous. 6 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
Protein type: DNA repair, damage; EC 3.6.4.12; Helicase; Ubiquitin conjugating system
Chromosomal Location of Human Ortholog: Xq21.1
Cellular Component:  condensed nuclear chromosome, centromeric region; nuclear body; nuclear chromosome, telomeric region; nuclear heterochromatin; nuclear pericentric heterochromatin; nuclear subtelomeric heterochromatin; nucleoplasm; nucleus; pericentric heterochromatin; PML body; telomeric heterochromatin
Molecular Function:  ATP binding; chromatin binding; chromo shadow domain binding; DNA binding; DNA translocase activity; DNA-binding transcription factor activity, RNA polymerase II-specific; helicase activity; histone binding; metal ion binding; methylated histone binding; protein binding
Biological Process:  cellular response to hydroxyurea; chromatin remodeling; chromosome organization involved in meiotic cell cycle; DNA damage response, signal transduction by p53 class mediator; DNA methylation; DNA repair; DNA replication-independent nucleosome assembly; forebrain development; meiotic spindle organization; multicellular organism growth; negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric; negative regulation of telomeric RNA transcription from RNA pol II promoter; nucleosome assembly; positive regulation of nuclear cell cycle DNA replication; positive regulation of telomere maintenance; positive regulation of telomeric RNA transcription from RNA pol II promoter; positive regulation of transcription by RNA polymerase II; post-embryonic forelimb morphogenesis; protein localization to chromosome, telomeric region; regulation of histone H3-K9 trimethylation; regulation of transcription, DNA-templated; replication fork processing; seminiferous tubule development; Sertoli cell development; spermatogenesis
Reference #:  P46100-2 (UniProtKB)
Alt. Names/Synonyms: alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae); ATP-dependent helicase ATRX; ATRX; ATRX chromatin remodeler; ATRX iso2; JMS; MRX52; RAD54; RAD54L; Transcriptional regulator ATRX; X-linked helicase II; X-linked nuclear protein; XH2; XNP; Znf-HX
Gene Symbols: ATRX
Molecular weight: 259,843 Da
Basal Isoelectric point: 6.39  Predict pI for various phosphorylation states
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ATRX iso2

Protein Structure Not Found.


Cross-references to other databases:  cBioPortal  |  Pfam  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene