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    Atrx alpha thalassemia/mental retardation syndrome X-linked [ Mus musculus (house mouse) ]

    Gene ID: 22589, updated on 27-Aug-2016
    Official Symbol
    Atrxprovided by MGI
    Official Full Name
    alpha thalassemia/mental retardation syndrome X-linkedprovided by MGI
    Primary source
    MGI:MGI:103067
    See related
    Ensembl:ENSMUSG00000031229 Vega:OTTMUSG00000018268
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    XH2; Xnp; ATR2; MRXS3; Rad54; Hp1bp2; RAD54L; ZNF-HX; Hp1bp38; AI447451; HP1-BP38; DXHXS6677E; 4833408C14Rik
    Orthologs
    Location:
    X D; X 47.26 cM
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) X NC_000086.7 (105797615..105929406, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) X NC_000086.6 (102992954..103124711, complement)

    Chromosome X - NC_000086.7Genomic Context describing neighboring genes Neighboring gene 60S ribosomal protein L12 pseudogene Neighboring gene fibroblast growth factor 16 Neighboring gene 60S ribosomal protein L7a-like Neighboring gene magnesium transporter 1 Neighboring gene cytochrome c oxidase subunit VIIb

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • PluriNetWork, organism-specific biosystem (from WikiPathways)
      PluriNetWork, organism-specific biosystemThe aim of the PluriNetWork is to give an overview of specific mechanisms associated with pluripotency in mouse. Each node represents a gene and its corresponding protein product. As stated, we inten...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA translocase activity ISO
    Inferred from Sequence Orthology
    more info
     
    chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromatin binding ISO
    Inferred from Sequence Orthology
    more info
     
    chromo shadow domain binding ISO
    Inferred from Sequence Orthology
    more info
     
    helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    histone binding ISO
    Inferred from Sequence Orthology
    more info
     
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    methylated histone binding ISO
    Inferred from Sequence Orthology
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA damage response, signal transduction by p53 class mediator IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    DNA replication-independent nucleosome assembly ISO
    Inferred from Sequence Orthology
    more info
     
    Sertoli cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to DNA damage stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to hydroxyurea IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chromatin remodeling ISO
    Inferred from Sequence Orthology
    more info
     
    covalent chromatin modification IEA
    Inferred from Electronic Annotation
    more info
     
    forebrain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of telomeric RNA transcription from RNA pol II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nucleosome assembly ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of nuclear cell cycle DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of telomere maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of telomeric RNA transcription from RNA pol II promoter ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter ISO
    Inferred from Sequence Orthology
    more info
     
    post-embryonic forelimb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein localization to chromosome, telomeric region IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of histone H3-K9 trimethylation ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    replication fork processing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    seminiferous tubule development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    PML body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    SWI/SNF superfamily-type complex ISO
    Inferred from Sequence Orthology
    more info
     
    chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    chromosome, telomeric region IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    heterochromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear chromosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with nuclear chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear subtelomeric heterochromatin ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    pericentric heterochromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    telomeric heterochromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    transcriptional regulator ATRX
    Names
    ATP-dependent helicase ATRX
    HP1 alpha-interacting protein
    X-linked nuclear protein
    alpha thalassemia/mental retardation syndrome X-linked homolog
    heterochromatin protein 2
    NP_033556.2

    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
      Q61687
      Related
      ENSMUSP00000109203, OTTMUSP00000019840, ENSMUST00000113573, OTTMUST00000044133
      Conserved Domains (4) 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 ...
      pfam00176
      Location:15481874
      SNF2_N; SNF2 family N-terminal domain
      cd11726
      Location:166269
      ADDz_ATRX; ADDz domain found in ATRX (alpha-thalassemia/mental retardation, X-linked)

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000086.7 Reference GRCm38.p4 C57BL/6J

      Range
      105797615..105929406 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011247569.2XP_011245871.1  

      See identical proteins and their annotated locations for XP_011245871.1

      Conserved Domains (4) summary
      cd00046
      Location:15181680
      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:19482094
      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 ...
      pfam00176
      Location:14931819
      SNF2_N; SNF2 family N-terminal domain
      cd11726
      Location:111214
      ADDz_ATRX; ADDz domain found in ATRX (alpha-thalassemia/mental retardation, X-linked)
    2. XM_011247562.2XP_011245864.1  

      Conserved Domains (4) 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:20032149
      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 ...
      pfam00176
      Location:15481874
      SNF2_N; SNF2 family N-terminal domain
      cd11726
      Location:166269
      ADDz_ATRX; ADDz domain found in ATRX (alpha-thalassemia/mental retardation, X-linked)
    3. XM_011247568.2XP_011245870.1  

      See identical proteins and their annotated locations for XP_011245870.1

      Conserved Domains (4) summary
      cd00046
      Location:15341696
      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:19642110
      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 ...
      pfam00176
      Location:15091835
      SNF2_N; SNF2 family N-terminal domain
      cd11726
      Location:127230
      ADDz_ATRX; ADDz domain found in ATRX (alpha-thalassemia/mental retardation, X-linked)
    4. XM_011247571.2XP_011245873.1  

      Conserved Domains (4) summary
      cd00046
      Location:14801642
      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:19102056
      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 ...
      pfam00176
      Location:14551781
      SNF2_N; SNF2 family N-terminal domain
      cd11726
      Location:73176
      ADDz_ATRX; ADDz domain found in ATRX (alpha-thalassemia/mental retardation, X-linked)
    5. XM_011247572.2XP_011245874.1  

      See identical proteins and their annotated locations for XP_011245874.1

      Conserved Domains (4) summary
      cd00046
      Location:15181680
      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:19482094
      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 ...
      pfam00176
      Location:14931819
      SNF2_N; SNF2 family N-terminal domain
      cd11726
      Location:111214
      ADDz_ATRX; ADDz domain found in ATRX (alpha-thalassemia/mental retardation, X-linked)
    6. XM_011247567.2XP_011245869.1  

      See identical proteins and their annotated locations for XP_011245869.1

      Conserved Domains (4) summary
      cd00046
      Location:15341696
      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:19642110
      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 ...
      pfam00176
      Location:15091835
      SNF2_N; SNF2 family N-terminal domain
      cd11726
      Location:127230
      ADDz_ATRX; ADDz domain found in ATRX (alpha-thalassemia/mental retardation, X-linked)
    7. XM_011247570.2XP_011245872.1  

      Conserved Domains (4) summary
      cd00046
      Location:14961658
      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:19262072
      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 ...
      pfam00176
      Location:14711797
      SNF2_N; SNF2 family N-terminal domain
      cd11726
      Location:89192
      ADDz_ATRX; ADDz domain found in ATRX (alpha-thalassemia/mental retardation, X-linked)
    8. XM_011247565.2XP_011245867.1  

      See identical proteins and their annotated locations for XP_011245867.1

      Conserved Domains (4) summary
      cd00046
      Location:15341696
      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:19642110
      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 ...
      pfam00176
      Location:15091835
      SNF2_N; SNF2 family N-terminal domain
      cd11726
      Location:127230
      ADDz_ATRX; ADDz domain found in ATRX (alpha-thalassemia/mental retardation, X-linked)
    9. XM_011247566.2XP_011245868.1  

      See identical proteins and their annotated locations for XP_011245868.1

      Conserved Domains (4) summary
      cd00046
      Location:15341696
      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:19642110
      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 ...
      pfam00176
      Location:15091835
      SNF2_N; SNF2 family N-terminal domain
      cd11726
      Location:127230
      ADDz_ATRX; ADDz domain found in ATRX (alpha-thalassemia/mental retardation, X-linked)
    10. XM_011247561.1XP_011245863.1  

      Conserved Domains (4) summary
      cd00046
      Location:15871749
      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:20172163
      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 ...
      pfam00176
      Location:15621888
      SNF2_N; SNF2 family N-terminal domain
      cd11726
      Location:180283
      ADDz_ATRX; ADDz domain found in ATRX (alpha-thalassemia/mental retardation, X-linked)
    11. XM_006527948.2XP_006528011.1  

      Conserved Domains (4) summary
      cd00046
      Location:15881750
      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:20152161
      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 ...
      pfam00176
      Location:15631889
      SNF2_N; SNF2 family N-terminal domain
      cd11726
      Location:181284
      ADDz_ATRX; ADDz domain found in ATRX (alpha-thalassemia/mental retardation, X-linked)
    12. XM_011247560.1XP_011245862.1  

      Conserved Domains (4) summary
      cd00046
      Location:15881750
      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:20182164
      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 ...
      pfam00176
      Location:15631889
      SNF2_N; SNF2 family N-terminal domain
      cd11726
      Location:181284
      ADDz_ATRX; ADDz domain found in ATRX (alpha-thalassemia/mental retardation, X-linked)
    13. XM_011247564.1XP_011245866.1  

      Conserved Domains (4) summary
      cd00046
      Location:15491711
      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:19792125
      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 ...
      pfam00176
      Location:15241850
      SNF2_N; SNF2 family N-terminal domain
      cd11726
      Location:142245
      ADDz_ATRX; ADDz domain found in ATRX (alpha-thalassemia/mental retardation, X-linked)
    14. XM_011247563.1XP_011245865.1  

      Conserved Domains (4) summary
      cd00046
      Location:15501712
      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:19802126
      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 ...
      pfam00176
      Location:15251851
      SNF2_N; SNF2 family N-terminal domain
      cd11726
      Location:143246
      ADDz_ATRX; ADDz domain found in ATRX (alpha-thalassemia/mental retardation, X-linked)
    15. XM_011247573.2XP_011245875.1  

      Conserved Domains (3) summary
      cd00046
      Location:15881750
      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.
      pfam00176
      Location:15631889
      SNF2_N; SNF2 family N-terminal domain
      cd11726
      Location:181284
      ADDz_ATRX; ADDz domain found in ATRX (alpha-thalassemia/mental retardation, X-linked)
    16. XM_011247575.2XP_011245877.1  

      Conserved Domains (3) summary
      cd00046
      Location:15881750
      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.
      pfam00176
      Location:15631889
      SNF2_N; SNF2 family N-terminal domain
      cd11726
      Location:181284
      ADDz_ATRX; ADDz domain found in ATRX (alpha-thalassemia/mental retardation, X-linked)
    17. XM_011247574.2XP_011245876.1  

      Conserved Domains (3) summary
      cd00046
      Location:15881750
      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.
      pfam00176
      Location:15631889
      SNF2_N; SNF2 family N-terminal domain
      cd11726
      Location:181284
      ADDz_ATRX; ADDz domain found in ATRX (alpha-thalassemia/mental retardation, X-linked)

    RNA

    1. XR_001782745.1 RNA Sequence

    2. XR_878099.2 RNA Sequence