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

Gene ID: 22589, updated on 8-Feb-2024

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 DNA damage response, signal transduction by p53 class mediator; cellular response to hydroxyurea; and regulation of cellular macromolecule biosynthetic process. Acts upstream of or within several processes, including male gonad development; meiotic spindle organization; and post-embryonic forelimb morphogenesis. Located in PML body and chromosome. 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, Apr 2022]
Expression
Broad expression in CNS E11.5 (RPKM 17.4), CNS E14 (RPKM 16.1) and 23 other tissues See more
Orthologs
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Genomic context

See Atrx in Genome Data Viewer
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_000086.8Genomic Context describing neighboring genes Neighboring gene 60S ribosomal protein L12 pseudogene Neighboring gene fibroblast growth factor 16 Neighboring gene predicted gene, 26020 Neighboring gene ribosomal protein 17a pseudogene Neighboring gene predicted gene, 23656 Neighboring gene STARR-seq mESC enhancer starr_47729 Neighboring gene magnesium transporter 1 Neighboring gene STARR-seq mESC enhancer starr_47730 Neighboring gene STARR-positive B cell enhancer ABC_E5734 Neighboring gene cytochrome c oxidase subunit 7B

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (3) 
  • Targeted (2)  1 citation
  • Endonuclease-mediated (4) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding 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 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 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 hydrolase activity IEA
Inferred from Electronic Annotation
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 ISO
Inferred from Sequence Orthology
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within DNA damage response IEA
Inferred from Electronic Annotation
more info
 
involved_in DNA damage response, signal transduction by p53 class mediator IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within 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 remodeling IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in chromatin remodeling ISO
Inferred from Sequence Orthology
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 ISO
Inferred from Sequence Orthology
more info
 
involved_in nucleosome assembly ISO
Inferred from Sequence Orthology
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 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 
part_of 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 
part_of pericentric heterochromatin IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of pericentric heterochromatin IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
transcriptional regulator ATRX
Names
ATP-dependent helicase ATRX
HP1 alpha-interacting protein
X-linked nuclear protein
heterochromatin protein 2
NP_033556.2

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)

  1. NM_009530.2NP_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:15731735
    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:20002146
    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:166269
    ADDz_ATRX; ADDz domain found in ATRX (alpha-thalassemia/mental retardation, X-linked)
    pfam00176
    Location:15481874
    SNF2_N; SNF2 family N-terminal domain
    pfam08070
    Location:727820
    DTHCT; DTHCT (NUC029) region
    pfam15917
    Location:9141004
    PIEZO; Piezo

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    104841221..104972978 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)