Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species
      Human
    • Sequence
      MTAEPMSESKLNTLVQKLHDFLAHSSEESEETSSPPRLAMNQNTDKISGS GSNSDMMENSKEEGTSSSEKSKSSGSSRSKRKPSIVNKND
    • Molecular weight
      36 kDa including tags
    • Amino acids
      1 to 90

Specifications

Our Abpromise guarantee covers the use of ab152217 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    SDS-PAGE

    ELISA

    Western blot

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 µg/µl.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • Alpha thalassemia/mental retardation syndrome X linked homolog
    • ATP dependent helicase ATRX
    • ATP-dependent helicase ATRX
    • ATR2
    • Atrx
    • ATRX_HUMAN
    • DNA dependent ATPase and helicase
    • Helicase 2, X linked
    • MGC2094
    • MRXHF1
    • RAD54
    • RAD54L
    • SFM1
    • SHS
    • Transcriptional regulator ATRX
    • X linked helicase II
    • X linked nuclear protein
    • X-linked helicase II
    • X-linked nuclear protein
    • XH2
    • XNP
    • Znf HX
    • Znf-HX
    see all
  • Function
    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 telomers. 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 telomers nor to increase expression of telomeric RNA in fibroblasts (PubMed:24500201). 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 (PubMed:27029610).
  • Tissue specificity
    Ubiquitous.
  • Involvement in disease
    Alpha-thalassemia mental retardation syndrome, X-linked
    Mental retardation, X-linked, syndromic, with hypotonic facies 1
    Alpha-thalassemia myelodysplasia syndrome
  • Sequence similarities
    Belongs to the SNF2/RAD54 helicase family.
    Contains 1 ADD domain.
    Contains 1 GATA-type zinc finger.
    Contains 1 helicase ATP-binding domain.
    Contains 1 helicase C-terminal domain.
    Contains 1 PHD-type zinc finger.
  • Domain
    The ADD domain predominantly interacts with histone H3 trimethylated at 'Lys-10'(H3K9me3) (and to a lesser extent H3 mono-or dimethylated at 'Lys-10') and simultanously to histone H3 unmethylated at 'Lys-5' (H3K4me0). The interaction with H3K9me3 is disrupted by the presence of H3K4me3 suggesting a readout of the combined histone H3 methylation state.
    Contains one Pro-Xaa-Val-Xaa-Leu (PxVxL) motif, which is required for interaction with chromoshadow domains. This motif requires additional residues -7, -6, +4 and +5 of the central Val which contact the chromoshadow domain.
  • Post-translational
    modifications
    Phosphorylated at serine residues during mitose. Phosphorylation may promote the release from the nuclear matrix and progression to mitosis.
  • Cellular localization
    Nucleus. Chromosome, telomere. Nucleus, PML body. Associated with pericentromeric heterochromatin during interphase and mitosis, probably by interacting with CBX5/HP1 alpha. Colocalizes with histone H3.3, DAXX, HIRA and ASF1A at PML-nuclear bodies. Colocalizes with cohesin (SMC1 and SMC3) and MECP2 at the maternal H19 ICR (By similarity).
  • Information by UniProt

Images

  • 12.5% SDS-PAGE analysis of ab152217 stained with Coomassie Blue.

References

ab152217 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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