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Recombinant Human ATRX protein is a Human Fragment protein, in the 2311 to 2410 aa range, expressed in Wheat germ and suitable for SDS-PAGE, ELISA, WB.

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Images

SDS-PAGE - Recombinant Human ATRX protein (AB152218), expandable thumbnail

Key facts

Expression system
Wheat germ
Tags
Tag free
Applications
SDS-PAGE, ELISA, WB
Biologically active
No

Amino acid sequence

F N L G A L S A M S N Q Q L E D L I N Q G R E K V V E A T N S V T A V R I Q P L E D I I S A V W K E N M N L S E A Q V Q A L A L S R Q A S Q E L D V K R R E A I Y N D V L T K Q Q M L I S C V Q R I L M

Reactivity data

Application
SDS-PAGE
Reactivity
Reacts
Dilution info
-
Notes

-

Application
ELISA
Reactivity
Reacts
Dilution info
-
Notes

-

Application
WB
Reactivity
Reacts
Dilution info
-
Notes

-

Target data

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 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 (PubMed:24500201). May be involved in telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines. Acts as a negative regulator of chromatin incorporation of transcriptionally repressive histone MACROH2A1, 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).

Alternative names

Recommended products

Recombinant Human ATRX protein is a Human Fragment protein, in the 2311 to 2410 aa range, expressed in Wheat germ and suitable for SDS-PAGE, ELISA, WB.

Key facts

Expression system
Wheat germ
Applications
SDS-PAGE, ELISA, WB
Accession
P46100-1
Animal free
No
Species
Human
Concentration
Loading...
Storage buffer

pH: 8
Constituents: 0.79% Tris HCl, 0.31% Glutathione

Sequence info

Amino acid sequence

F N L G A L S A M S N Q Q L E D L I N Q G R E K V V E A T N S V T A V R I Q P L E D I I S A V W K E N M N L S E A Q V Q A L A L S R Q A S Q E L D V K R R E A I Y N D V L T K Q Q M L I S C V Q R I L M
Accession
P46100
Protein length
Fragment
Predicted molecular weight
36.74 kDa
Amino acids
2311 to 2410
Nature
Recombinant

Specifications

Form
Liquid

General info

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 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 (PubMed:24500201). May be involved in telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines. Acts as a negative regulator of chromatin incorporation of transcriptionally repressive histone MACROH2A1, 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).

Sequence similarities

Belongs to the SNF2/RAD54 helicase family.

Post-translational modifications

Phosphorylated at serine residues during mitose. Phosphorylation may promote the release from the nuclear matrix and progression to mitosis.

Subcellular localisation
Nucleus, PML body

Storage

Shipped at conditions
Dry Ice
Appropriate short-term storage conditions
-80°C
Appropriate long-term storage conditions
-80°C
Aliquoting information
Upon delivery aliquot
Storage information
Avoid freeze / thaw cycle

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.
Activity summary

The ATRX protein also recognized as alpha thalassemia/mental retardation syndrome X-linked (ATR-X) is a chromatin remodeler with a molecular weight of approximately 280 kDa. Expressed predominantly in the brain and thymus ATRX plays an important role in regulating gene expression by modulating chromatin structure. Its expression in neural tissues suggests its importance in brain development where it aids in transcriptional regulation and maintenance of genomic stability.

Biological function summary

ATRX functions by forming part of the ATRX-DAXX complex. This complex plays a vital role in the deposition of the histone variant H3.3 into heterochromatin regions affecting the structure and function of these genomic segments. ATRX through the ATRX-DAXX complex also maintains telomere integrity by preventing uncontrolled telomere elongation. As such ATRX is important in cellular processes like DNA replication repair and mitotic progression emphasizing its role in maintaining genetic fidelity across cell divisions.

Pathways

ATRX is an important component in chromatin remodeling and telomere maintenance pathways. It interacts closely with the DAXX protein within these pathways affecting the histone exchange mechanisms. ATRX also engages with other proteins such as p53 integrating its function into the DNA damage repair pathway. Through these pathways ATRX ensures proper chromatin dynamics and participates in mechanisms guarding genomic stability.

Associated diseases and disorders

ATRX mutations have significant implications for conditions such as alpha thalassemia/mental retardation syndrome and certain cancers. The protein's altered functions can lead to alpha thalassemia due to improper blood cell gene expression and mental retardation from impaired brain development. In cancers mutations in ATRX often disrupt telomere maintenance contributing to oncogenesis. The relationship between ATRX and telomerase highlights the complex network through which ATRX mutations can influence telomere dynamics in cancer progression.

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1 product image

  • SDS-PAGE - Recombinant Human ATRX protein (ab152218), expandable thumbnail

    SDS-PAGE - Recombinant Human ATRX protein (ab152218)

    12.5% SDS-PAGE analysis of ab152218 stained with Coomassie Blue.

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Product protocols

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