Atrx ATRX, chromatin remodeler [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atrxprovided by MGI
Official Full Name: ATRX, chromatin remodelerprovided by MGI
Primary source: MGI:MGI:103067
See related: Ensembl:ENSMUSG00000031229 AllianceGenome:MGI:103067
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: XH2; Xnp; ATR2; MRXS3; Rad54; Hp1bp2; RAD54L; ZNF-HX; Hp1bp38; HP1-BP38; DXHXS6677E; 4833408C14Rik
Summary: Enables chromatin binding activity and histone binding activity. Involved in several processes, including cellular response to hydroxyurea; positive regulation of DNA metabolic process; and subtelomeric heterochromatin formation. Acts upstream of or within several processes, including male gonad development; positive regulation of transcription by RNA polymerase II; and post-embryonic forelimb morphogenesis. Located in PML body and chromosome. Colocalizes with chromosome, telomeric region. Is expressed in several structures, including alimentary system; early embryo; egg cylinder; genitourinary system; and nervous system. Used to study alpha thalassemia-X-linked intellectual disability syndrome. Human ortholog(s) of this gene implicated in X-linked mental retardation-hypotonic facies syndrome-1; alpha thalassemia-X-linked intellectual disability syndrome; alpha-thalassemia myelodysplasia syndrome; high grade glioma; and lung small cell carcinoma. Orthologous to human ATRX (ATRX chromatin remodeler). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in CNS E11.5 (RPKM 17.4), CNS E14 (RPKM 16.1) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: X D; X 47.26 cM

Exon count:: 35

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (104841221..104972978, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (105797615..105929372, complement)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Combined deletion of MEN1, ATRX and PTEN triggers development of high-grade pancreatic neuroendocrine tumors in mice.
Title: Combined deletion of MEN1, ATRX and PTEN triggers development of high-grade pancreatic neuroendocrine tumors in mice.
Systemic and intrinsic functions of ATRX in glial cell fate and CNS myelination in male mice.
Title: Systemic and intrinsic functions of ATRX in glial cell fate and CNS myelination in male mice.
A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects.
Title: A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects.
Atrx deletion impairs CGAS/STING signaling and increases sarcoma response to radiation and oncolytic herpesvirus.
Title: Atrx deletion impairs CGAS/STING signaling and increases sarcoma response to radiation and oncolytic herpesvirus.
TERRA regulates DNA G-quadruplex formation and ATRX recruitment to chromatin.
Title: TERRA regulates DNA G-quadruplex formation and ATRX recruitment to chromatin.
ATRX histone binding and helicase activities have distinct roles in neuronal differentiation.
Title: ATRX histone binding and helicase activities have distinct roles in neuronal differentiation.
ATRX regulates glial identity and the tumor microenvironment in IDH-mutant glioma.
Title: ATRX regulates glial identity and the tumor microenvironment in IDH-mutant glioma.
Inactivation of ATRX in forebrain excitatory neurons affects hippocampal synaptic plasticity.
Title: Inactivation of ATRX in forebrain excitatory neurons affects hippocampal synaptic plasticity.
Sensory Experience Modulates Atrx-mediated Neuronal Integrity in the Mouse Retina.
Title: Sensory Experience Modulates Atrx-mediated Neuronal Integrity in the Mouse Retina.
Atrx Deletion in Neurons Leads to Sexually Dimorphic Dysregulation of miR-137 and Spatial Learning and Memory Deficits.
Title: Atrx Deletion in Neurons Leads to Sexually Dimorphic Dysregulation of miR-137 and Spatial Learning and Memory Deficits.

Submit: New GeneRIF Correction See all GeneRIFs (57)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5) 1 citation
Gene trapped (3)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXMit213 (e-PCR), detects polymorphism
- UniSTS:132102

MARC_6759-6760:992007400:1 (e-PCR)
- UniSTS:231262

GDB:596212 (e-PCR)
- UniSTS:158061

Atrx (e-PCR), detects polymorphism
- UniSTS:546675

RH126483 (e-PCR)
- UniSTS:163191

GDB:596250 (e-PCR)
- UniSTS:158077

AI447451 (e-PCR)
- UniSTS:160893

GDB:596276 (e-PCR)
- UniSTS:158082

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent chromatin remodeler activity	IEA Inferred from Electronic Annotation more info
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA translocase activity	IEA Inferred from Electronic Annotation more info
enables DNA translocase activity	ISO Inferred from Sequence Orthology more info
enables chromatin DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin binding	ISO Inferred from Sequence Orthology more info
enables chromo shadow domain binding	IEA Inferred from Electronic Annotation more info
enables chromo shadow domain binding	ISO Inferred from Sequence Orthology more info
enables helicase activity	IEA Inferred from Electronic Annotation more info
enables histone binding	IDA Inferred from Direct Assay more info	PubMed
enables histone binding	IPI Inferred from Physical Interaction more info	PubMed
enables histone binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables methylated histone binding	IBA Inferred from Biological aspect of Ancestor more info
enables methylated histone binding	IEA Inferred from Electronic Annotation more info
enables methylated histone binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response, signal transduction by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within Sertoli cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to hydroxyurea	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromatin organization	ISO Inferred from Sequence Orthology more info
involved_in chromatin organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in chromatin remodeling	IBA Inferred from Biological aspect of Ancestor more info
involved_in chromatin remodeling	ISO Inferred from Sequence Orthology more info
involved_in chromatin remodeling	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within chromosome organization involved in meiotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within forebrain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within meiotic spindle organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric	ISO Inferred from Sequence Orthology more info
involved_in nucleosome assembly	ISO Inferred from Sequence Orthology more info
involved_in nucleosome assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of nuclear cell cycle DNA replication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of telomere maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within post-embryonic forelimb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to chromosome, telomeric region	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in replication fork processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in replication fork processing	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within seminiferous tubule development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in subtelomeric heterochromatin formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in subtelomeric heterochromatin formation	ISO Inferred from Sequence Orthology more info
acts_upstream_of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in PML body	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome, subtelomeric region	IEA Inferred from Electronic Annotation more info
located_in chromosome, subtelomeric region	ISO Inferred from Sequence Orthology more info
colocalizes_with chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in condensed chromosome, centromeric region	IDA Inferred from Direct Assay more info	PubMed
located_in heterochromatin	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear body	ISO Inferred from Sequence Orthology more info
located_in nuclear chromosome	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in pericentric heterochromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in pericentric heterochromatin	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transcriptional regulator ATRX

Names: ATP-dependent helicase ATRX; HP1 alpha-interacting protein; X-linked nuclear protein; heterochromatin protein 2

NP_033556.2

EC 3.6.4.12

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_009530.2 → NP_033556.2 transcriptional regulator ATRX

See identical proteins and their annotated locations for NP_033556.2

Status: VALIDATED

Source sequence(s)

AL670660, AL671893

Consensus CDS

CCDS41095.1

UniProtKB/Swiss-Prot

A2ADH4, Q61687

Related

ENSMUSP00000109203.2, ENSMUST00000113573.8

Conserved Domains (6) summary

cd00046
Location:1573 → 1735

DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.

cd00079
Location:2000 → 2146

HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...

cd11726
Location:166 → 269

ADDz_ATRX; ADDz domain found in ATRX (alpha-thalassemia/mental retardation, X-linked)

pfam00176
Location:1548 → 1874

SNF2_N; SNF2 family N-terminal domain

pfam08070
Location:727 → 820

DTHCT; DTHCT (NUC029) region

pfam15917
Location:914 → 1004

PIEZO; Piezo