Format

Send to:

Choose Destination
    • Showing Current items.

    ATR ATR serine/threonine kinase [ Homo sapiens (human) ]

    Gene ID: 545, updated on 13-Jan-2020

    Summary

    Official Symbol
    ATRprovided by HGNC
    Official Full Name
    ATR serine/threonine kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:882
    See related
    Ensembl:ENSG00000175054 MIM:601215
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FRP1; MEC1; SCKL; FCTCS; SCKL1
    Summary
    The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved in the inhibition of DNA replication and mitosis, and can promote DNA repair, recombination, and apoptosis. This protein is also important for fragile site stability and centrosome duplication. Defects in this gene are a cause of Seckel syndrome 1. [provided by RefSeq, Aug 2017]
    Expression
    Ubiquitous expression in testis (RPKM 5.4), adrenal (RPKM 5.3) and 25 other tissues See more
    Orthologs

    Genomic context

    See ATR in Genome Data Viewer
    Location:
    3q23
    Exon count:
    49
    Annotation release Status Assembly Chr Location
    109.20191205 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (142449235..142578793, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (142168077..142297668, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene 5'-3' exoribonuclease 1 Neighboring gene RNA, U6 small nuclear 1294, pseudogene Neighboring gene RNA, U1 small nuclear 100, pseudogene Neighboring gene eukaryotic translation initiation factor 2 alpha kinase 1 pseudogene Neighboring gene SUCLG2 pseudogene 1 Neighboring gene RNA, 5S ribosomal pseudogene 143 Neighboring gene ribosomal protein L6 pseudogene 9

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr Upregulation of NKG2D ligands is dependent on HIV-1 Vpr-mediated activation of the ATR DNA damage/stress pathway, which requires the recruitment of the Cul4/DDB1/DCAF1 E3 ubiquitin ligase complex PubMed
    vpr HIV-1 Vpr activates ATR, resulting in phosphorylation of Chk1 and activation of the ATR-mediated DNA damage response PubMed
    vpr Depletion of A-alpha and C-beta subunits of PP2A reduces Vpr-induced G2 arrest to the same extent as depletion of ATM and Rad3-related (ATR) PubMed
    vpr HIV-1 Vpr-mediated upregulation of PVR (CD155) requires the interaction of Vpr with the DDB1-Cul4A E3 ligase and induction of ATR-mediated DNA damage repair and G2 arrest PubMed
    vpr ATR-induced phosphorylation of Chk1-Ser(345) requires PP2A only when Vpr activates ATR PubMed
    vpr HIV-1 Vpr induces phosphorylation of replication protein A (RPA32) at serine 4 and 8 in an ATR-dependent manner PubMed
    vpr HIV-1 Vpr-induced apoptosis is mediated via Bax, downstream of ATR activation PubMed
    vpr HIV-1 Vpr induces phosphorylation of BRCA1 at serine 1423 in an ATR-dependent manner PubMed
    integrase gag-pol ATR kinase is hypothesized to be required for successful completion of the HIV-1 viral DNA integration process, suggesting a functional interaction with HIV-1 Integrase PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    MutLalpha complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    MutSalpha complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    DNA damage checkpoint IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    DNA damage checkpoint IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA repair TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA replication TAS
    Traceable Author Statement
    more info
     
    cellular response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to DNA damage stimulus TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to UV IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to gamma radiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    establishment of RNA localization to telomere IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    establishment of protein-containing complex localization to telomere IC
    Inferred by Curator
    more info
    PubMed 
    interstrand cross-link repair TAS
    Traceable Author Statement
    more info
     
    multicellular organism development TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peptidyl-serine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of DNA damage response, signal transduction by p53 class mediator IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of telomerase catalytic core complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of telomere maintenance via telomerase ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein localization to chromosome, telomeric region IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cellular response to heat TAS
    Traceable Author Statement
    more info
     
    regulation of signal transduction by p53 class mediator TAS
    Traceable Author Statement
    more info
     
    replicative senescence IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    telomere maintenance IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    PML body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    colocalizes_with nuclear chromosome, telomeric region IC
    Inferred by Curator
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    serine/threonine-protein kinase ATR
    Names
    FRAP-related protein-1
    MEC1, mitosis entry checkpoint 1, homolog
    ataxia telangiectasia and Rad3-related protein
    NP_001175.2
    NP_001341508.1
    XP_011511226.1
    XP_011511227.1

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_008951.1 RefSeqGene

      Range
      5094..134592
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001184.4NP_001175.2  serine/threonine-protein kinase ATR isoform 1

      See identical proteins and their annotated locations for NP_001175.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BE859077, U49844, U76308
      Consensus CDS
      CCDS3124.1
      UniProtKB/Swiss-Prot
      Q13535
      Related
      ENSP00000343741.4, ENST00000350721.9
      Conserved Domains (4) summary
      smart00802
      Location:11191224
      UME; Domain in UVSB PI-3 kinase, MEI-41 and ESR-1
      COG5032
      Location:21332644
      TEL1; Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]
      cd00892
      Location:22932567
      PIKKc_ATR; Catalytic domain of Ataxia telangiectasia and Rad3-related proteins
      pfam02259
      Location:17712092
      FAT; FAT domain
    2. NM_001354579.2NP_001341508.1  serine/threonine-protein kinase ATR isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC109992, AC134509
      Related
      ENSP00000499589.1, ENST00000661310.1
      Conserved Domains (4) summary
      smart00802
      Location:10551160
      UME; Domain in UVSB PI-3 kinase, MEI-41 and ESR-1
      COG5032
      Location:20692580
      TEL1; Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]
      cd00892
      Location:22292503
      PIKKc_ATR; Catalytic domain of Ataxia telangiectasia and Rad3-related proteins
      pfam02259
      Location:17072028
      FAT; FAT domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      142449235..142578793 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512925.1XP_011511227.1  serine/threonine-protein kinase ATR isoform X2

      Conserved Domains (5) summary
      smart00802
      Location:10551160
      UME; Domain in UVSB PI-3 kinase, MEI-41 and ESR-1
      COG5032
      Location:20712582
      TEL1; Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]
      cd00892
      Location:22312505
      PIKKc_ATR; Catalytic domain of Ataxia telangiectasia and Rad3-related proteins
      pfam02259
      Location:17092030
      FAT; FAT domain
      pfam02260
      Location:25512582
      FATC; FATC domain
    2. XM_011512924.1XP_011511226.1  serine/threonine-protein kinase ATR isoform X1

      Conserved Domains (5) summary
      smart00802
      Location:11191224
      UME; Domain in UVSB PI-3 kinase, MEI-41 and ESR-1
      COG5032
      Location:21352646
      TEL1; Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]
      cd00892
      Location:22952569
      PIKKc_ATR; Catalytic domain of Ataxia telangiectasia and Rad3-related proteins
      pfam02259
      Location:17732094
      FAT; FAT domain
      pfam02260
      Location:26152646
      FATC; FATC domain

    RNA

    1. XR_001740179.2 RNA Sequence

    2. XR_924148.2 RNA Sequence

    3. XR_001740182.1 RNA Sequence

    4. XR_001740181.2 RNA Sequence

    5. XR_002959543.1 RNA Sequence

    6. XR_001740180.2 RNA Sequence

    Support Center