Mouse ATRX/RAD54 Monoclonal Antibody | anti-ATRX antibody

ATRX/RAD54 (Alpha Thalassemia Mental Retardation)

Cat. Num. AAA4380175

• Gene Names: ATRX; JMS; XH2; XNP; MRX52; RAD54; RAD54L; ZNF-HX
• Reactivity: Human. Others not known.
• Applications: ELISA
• Synonyms: ATRX/RAD54; Monoclonal Antibody; ATRX/RAD54 (Alpha Thalassemia Mental Retardation); Alpha thalassemia/mental retardation syndrome X linked homolog; ATP-dependent helicase ATRX; ATR2; ATRX; DNA-dependent ATPase and helicase; MRXHF1; RAD54; RAD54L; SFM1; SHS; Transcriptional regulator ATRX; X-linked helicase II; X-linked nuclear protein; XH2; XNP; Znf-HX; anti-ATRX antibody

• Host: Mouse
• Reactivity: Human. Others not known.
• Clonality: Monoclonal
• Isotype: IgG1, kappa
• Clone Number: 23c
• Specificity: ATRX is a member of the Snf2 family of helicase/ATPases, which contribute to the remodeling of the nucelosome structure in an ATP-dependent manner, and facilitate the initiation of transcription and replication. Structurally, ATRX contains a PHD zinc finger motif. ATRX is regulated throughout the cell cycle where it is differentially distributed within the nucleus. During interphase, ATRX predominately associates with the nuclear matrix, while during mitosis, ATRX localizes with condensed chromatin. At the onset of M phase, phosphorylation rapidly induces this redistribution of ATRX to the short arms of human acrocentric chromosomes, where it then specifically complexes with heterochromatin protein 1 ? to mediate chromosomal segregation. Mutations in the ATRX gene correlate with a high incidence of severe X-linked form of syndromal mental retardation associated with ? thalassemia or ATRX syndrome
• Form/Format: 200ug/ml of Ab purified from Bioreactor Concentrate by Protein A/G. Prepared in 10mM PBS with 0.05% BSA & 0.05% azide. Also available WITHOUT BSA & azide at 1.0mg/ml.
• Sequence Length: 2492

• Applicable Applications for anti-ATRX antibody: ELISA (EIA)
• Application Notes: ELISA: Use Ab at 2-4ug/ml for coating. Order Ab without BSA.
• Immunogen: Recombinant full-length human ATRX protein
• Cellular Localization: Nuclear
• Hu-chromosome Location: Xq21.1
• Positive Control: Raji, HeLa or A431 Cells. Pancreas, Adrenal, Ovary, Kidney, Prostate or Stomach.
• Preparation and Storage: Antibody with azide - store at 2 to 8 degree C.; Antibody without azide - store at -20 to -80 degree C.; Antibody is stable for 24 months. Non-hazardous. No MSDS required.

SDS-Page

(SDS-PAGE Analysis Purified ATRX Mouse Monoclonal Antibody (23c). Confirmation of Integrity and Purity of Antibody.)

Immunohistochemistry (IHC)

(Formalin-fixed, paraffin-embedded human Pituitary stained with ACTH Mouse Recombinant Monoclonal Antibody (rCLIP/1407).)

References

McDowell et al. 1999. Proc Natl Acad Sci U S A. 96(24):13983-8. Lukashchuk et al. 2008. J Virol. 82(24):12543-54.

NCBI and Uniprot Product Information

• NCBI GI #: 530788276
• NCBI GeneID: 546
• NCBI Accession #: NP_000480.3
• NCBI GenBank Nucleotide #: NM_000489.5
• UniProt Accession #: P46100; P51068; Q15886; Q59FB5; Q59H31; Q5H9A2; Q5JWI4; Q7Z2J1; Q9H0Z1; Q9NTS3; D3DTE2
• Molecular Weight: 280kDa
• NCBI Official Full Name: transcriptional regulator ATRX isoform 1
• NCBI Official Synonym Full Names: ATRX, chromatin remodeler
• NCBI Official Symbol: ATRX
• NCBI Official Synonym Symbols: JMS; XH2; XNP; MRX52; RAD54; RAD54L; ZNF-HX
• NCBI Protein Information: transcriptional regulator ATRX
• UniProt Protein Name: Transcriptional regulator ATRX
• Protein Family: Transcriptional regulator
• UniProt Gene Name: ATRX
• UniProt Synonym Gene Names: RAD54L; XH2; XNP

NCBI 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 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. [provided by RefSeq, Jul 2017]

Uniprot Description

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).