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    Atr ataxia telangiectasia and Rad3 related [ Mus musculus (house mouse) ]

    Gene ID: 245000, updated on 9-Dec-2024

    Summary

    Official Symbol
    Atrprovided by MGI
    Official Full Name
    ataxia telangiectasia and Rad3 relatedprovided by MGI
    Primary source
    MGI:MGI:108028
    See related
    Ensembl:ENSMUSG00000032409 AllianceGenome:MGI:108028
    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
    Summary
    Enables protein kinase activity. Involved in positive regulation of telomere maintenance via telomerase and replication fork processing. Acts upstream of or within several processes, including DNA damage checkpoint signaling; embryo implantation; and protein phosphorylation. Located in XY body and male germ cell nucleus. Part of ATR-ATRIP complex. Is active in GABA-ergic synapse and postsynapse. Is extrinsic component of synaptic vesicle membrane. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; eye; and gonad. Used to study Seckel syndrome. Human ortholog(s) of this gene implicated in Seckel syndrome 1; adenoid cystic carcinoma; colon cancer; lung cancer; and pancreatic cancer. Orthologous to human ATR (ATR serine/threonine kinase). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis adult (RPKM 8.1), CNS E11.5 (RPKM 3.4) and 21 other tissues See more
    Orthologs
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    Genomic context

    See Atr in Genome Data Viewer
    Location:
    9 E3.3; 9 50.27 cM
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (95739655..95834813)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (95857597..95953217)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 39407 Neighboring gene transient receptor potential cation channel, subfamily C, member 1 Neighboring gene plastin 1 (I-isoform) Neighboring gene VISTA enhancer mm1367 Neighboring gene RIKEN cDNA 1700065D16 gene Neighboring gene STARR-positive B cell enhancer ABC_E5095 Neighboring gene STARR-positive B cell enhancer ABC_E894 Neighboring gene STARR-positive B cell enhancer mm9_chr9:95758941-95759242 Neighboring gene STARR-seq mESC enhancer starr_24939 Neighboring gene STARR-positive B cell enhancer ABC_E3852 Neighboring gene predicted gene, 24004 Neighboring gene predicted gene, 16794 Neighboring gene STARR-positive B cell enhancer ABC_E8307 Neighboring gene STARR-seq mESC enhancer starr_24940 Neighboring gene 5'-3' exoribonuclease 1 Neighboring gene STARR-seq mESC enhancer starr_24941 Neighboring gene STARR-seq mESC enhancer starr_24942 Neighboring gene STARR-positive B cell enhancer ABC_E8308 Neighboring gene glycerol kinase 5

    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)
    • Endonuclease-mediated (5) 
    • Targeted (9)  1 citation

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Items 1 - 25 of 34
    Function Evidence Code Pubs
    enables 3-phosphoinositide-dependent protein kinase activity  
    enables AMP-activated protein kinase activity  
    enables ATP binding  
    enables DNA binding  
    enables DNA-dependent protein kinase activity  
    enables MutLalpha complex binding  
    enables MutSalpha complex binding  
    enables Rho-dependent protein serine/threonine kinase activity  
    enables eukaryotic translation initiation factor 2alpha kinase activity  
    enables histone H2AS1 kinase activity  
    enables histone H2AS121 kinase activity  
    enables histone H2AT120 kinase activity  
    enables histone H2AXS139 kinase activity  
    enables histone H2AXS139 kinase activity  
    enables histone H2BS14 kinase activity  
    enables histone H2BS36 kinase activity  
    enables histone H3S10 kinase activity  
    enables histone H3S28 kinase activity  
    enables histone H3S57 kinase activity  
    enables histone H3T11 kinase activity  
    enables histone H3T3 kinase activity  
    enables histone H3T45 kinase activity  
    enables histone H3T6 kinase activity  
    enables histone H4S1 kinase activity  
    enables protein binding PubMed 
    enables protein kinase activity PubMed 
    enables protein kinase activity  
    enables protein kinase activity PubMed 
    enables protein serine kinase activity  
    enables protein serine/threonine kinase activity  
    enables protein serine/threonine kinase activity  
    enables protein serine/threonine kinase activity  
    enables protein serine/threonine kinase activity  
    enables ribosomal protein S6 kinase activity  
    Items 1 - 25 of 34
    Items 1 - 25 of 33
    Process Evidence Code Pubs
    involved_in DNA damage checkpoint signaling  
    acts_upstream_of_or_within DNA damage checkpoint signaling PubMed 
    involved_in DNA damage checkpoint signaling  
    involved_in DNA damage checkpoint signaling  
    acts_upstream_of_or_within DNA damage response PubMed 
    involved_in DNA damage response  
    involved_in DNA repair  
    acts_upstream_of_or_within DNA repair PubMed 
    involved_in cellular response to UV  
    involved_in cellular response to gamma radiation  
    involved_in chromatin remodeling  
    acts_upstream_of_or_within chromosome organization PubMed 
    involved_in double-strand break repair  
    acts_upstream_of_or_within embryo implantation PubMed 
    involved_in establishment of RNA localization to telomere  
    involved_in mitotic G2/M transition checkpoint  
    involved_in negative regulation of DNA replication  
    acts_upstream_of nuclear membrane disassembly  
    acts_upstream_of nuclear membrane disassembly  
    involved_in nucleobase-containing compound metabolic process PubMed 
    involved_in peptidyl-serine phosphorylation  
    involved_in positive regulation of DNA damage response, signal transduction by p53 class mediator  
    involved_in positive regulation of telomerase catalytic core complex assembly  
    involved_in positive regulation of telomere maintenance via telomerase PubMed 
    involved_in protein autophosphorylation  
    involved_in protein localization to chromosome, telomeric region  
    acts_upstream_of_or_within protein phosphorylation PubMed 
    involved_in regulation of double-strand break repair PubMed 
    acts_upstream_of_or_within regulation of protein binding PubMed 
    involved_in replication fork processing PubMed 
    involved_in replicative senescence  
    involved_in response to mechanical stimulus  
    involved_in telomere maintenance  
    Items 1 - 25 of 33
    Items 1 - 20 of 21
    Component Evidence Code Pubs
    part_of ATR-ATRIP complex PubMed 
    part_of ATR-ATRIP complex  
    is_active_in GABA-ergic synapse PubMed 
    located_in Golgi apparatus  
    located_in PML body  
    located_in PML body  
    located_in XY body PubMed 
    is_active_in chromosome  
    located_in chromosome PubMed 
    is_active_in extrinsic component of synaptic vesicle membrane PubMed 
    located_in male germ cell nucleus PubMed 
    is_active_in nuclear envelope  
    is_active_in nuclear envelope  
    located_in nucleoplasm  
    located_in nucleoplasm  
    is_active_in nucleus  
    located_in nucleus PubMed 
    located_in nucleus PubMed 
    is_active_in postsynapse PubMed 
    is_active_in site of DNA damage  
    is_active_in site of DNA damage  
    Items 1 - 20 of 21

    General protein information

    Preferred Names
    serine/threonine-protein kinase ATR
    Names
    ataxia telangiectasia and Rad3-related protein
    NP_063917.1
    XP_006511247.1
    XP_036010906.1

    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_019864.2NP_063917.1  serine/threonine-protein kinase ATR

      Status: VALIDATED

      Source sequence(s)
      AC091531, AC121499
      Consensus CDS
      CCDS52890.1
      UniProtKB/Swiss-Prot
      Q3TBS8, Q3TNX3, Q3TZM6, Q3UT26, Q3V1V6, Q571L3, Q9JKK8
      UniProtKB/TrEMBL
      A0A1L1SSL9
      Related
      ENSMUSP00000149953.2, ENSMUST00000215311.2
      Conserved Domains (7) summary
      smart00802
      Location:11191225
      UME; Domain in UVSB PI-3 kinase, MEI-41 and ESR-1
      COG5032
      Location:21232641
      TEL1; Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]
      cd00892
      Location:22902564
      PIKKc_ATR; Catalytic domain of Ataxia telangiectasia and Rad3-related proteins
      pfam02259
      Location:17712092
      FAT; FAT domain
      pfam02260
      Location:26102641
      FATC; FATC domain
      sd00044
      Location:690720
      HEAT; HEAT repeat [structural motif]
      cl11397
      Location:15291607
      NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      95739655..95834813
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006511184.5XP_006511247.1  serine/threonine-protein kinase ATR isoform X1

      UniProtKB/Swiss-Prot
      Q3TBS8, Q3TNX3, Q3TZM6, Q3UT26, Q3V1V6, Q571L3, Q9JKK8
      UniProtKB/TrEMBL
      E9QPK4
      Related
      ENSMUSP00000034980.9, ENSMUST00000034980.9
      Conserved Domains (5) summary
      smart00802
      Location:11191225
      UME; Domain in UVSB PI-3 kinase, MEI-41 and ESR-1
      COG5032
      Location:21172635
      TEL1; Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]
      cd00892
      Location:22842558
      PIKKc_ATR; Catalytic domain of Ataxia telangiectasia and Rad3-related proteins
      pfam02259
      Location:17772086
      FAT; FAT domain
      cl11397
      Location:15291607
      NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
    2. XM_036155013.1XP_036010906.1  serine/threonine-protein kinase ATR isoform X2

      Conserved Domains (2) summary
      smart00802
      Location:11191225
      UME; Domain in UVSB PI-3 kinase, MEI-41 and ESR-1
      sd00044
      Location:690720
      HEAT; HEAT repeat [structural motif]

    RNA

    1. XR_001778905.2 RNA Sequence

    2. XR_003947900.1 RNA Sequence

    3. XR_003947901.1 RNA Sequence

    4. XR_004935437.1 RNA Sequence

      Related
      ENSMUST00000185473.7
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