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ATR Gene

protein-coding   GIFtS: 73
GCID: GC03M142168

Ataxia Telangiectasia And Rad3 Related

  See ATR-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ataxia Telangiectasia And Rad3 Related1 2     Homolog (S. Cerevisiae)1
FRP12 3 5     Mitosis Entry Checkpoint 11
MEC11 2     SCKL2
Ataxia Telangiectasia And Rad3-Related Protein2 3     FRAP-Related Protein-12
FRAP-Related Protein 12 3     MEC1, Mitosis Entry Checkpoint 1, Homolog2
EC 2.7.11.13 8     Protein Kinase ATR2
FCTCS2 5     Rad3 Related Protein2
SCKL12 5     Serine/Threonine-Protein Kinase ATR2

External Ids:    HGNC: 8821   Entrez Gene: 5452   Ensembl: ENSG000001750547   OMIM: 6012155   UniProtKB: Q135353   

Export aliases for ATR gene to outside databases

Previous GC identifers: GC03M139200 GC03M142996 GC03M143449 GC03M143488 GC03M143650 GC03M139541


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ATR Gene:
The protein encoded by this gene belongs the PI3/PI4-kinase family, and is most closely related to ATM, a protein
kinase encoded by the gene mutated in ataxia telangiectasia. This protein and ATM share similarity with
Schizosaccharomyces pombe rad3, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair
in response to DNA damage. This kinase has been shown to phosphorylate checkpoint kinase CHK1, checkpoint
proteins RAD17, and RAD9, as well as tumor suppressor protein BRCA1. Mutations of this gene are associated with
Seckel syndrome. An alternatively spliced transcript variant of this gene has been reported, however, its full
length nature is not known. Transcript variants utilizing alternative polyA sites exist. (provided by RefSeq, Jul
2008)

GeneCards Summary for ATR Gene:
ATR (ataxia telangiectasia and Rad3 related) is a protein-coding gene. Diseases associated with ATR include seckel syndrome type 1, and cutaneous telangiectasia and cancer syndrome, familial. GO annotations related to this gene include protein serine/threonine kinase activity and MutSalpha complex binding. An important paralog of this gene is PRKDC.

UniProtKB/Swiss-Prot: ATR_HUMAN, Q13535
Function: Serine/threonine protein kinase which activates checkpoint signaling upon genotoxic stresses such as
ionizing radiation (IR), ultraviolet light (UV), or DNA replication stalling, thereby acting as a DNA damage
sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates BRCA1, CHEK1, MCM2, RAD17, RPA2, SMC1
and p53/TP53, which collectively inhibit DNA replication and mitosis and promote DNA repair, recombination and
apoptosis. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX at sites of DNA damage, thereby regulating DNA
damage response mechanism. Required for FANCD2 ubiquitination. Critical for maintenance of fragile site stability
and efficient regulation of centrosome duplication

summary for ATR Gene:
ATR (Ataxia telangiectasia and Rad3 related) and ATM (Ataxia telangiectasia mutated) are closely related
kinases that are activated by DNA damage. These serine-threonine protein kinases are part of the
phosphatidylinositol 3' kinase-like kinase (PIKK) family. Upon recruitment by the DNA damage binding
proteins/complexes (ATRIP for ATR; MRN for ATM), ATM/ATR initiate the DNA damage checkpoint by
phosphorylating a number of key proteins. Once activated, the checkpoint leads to cell cycle arrest and
either DNA repair or apoptosis. ATM is activated by double stranded breaks and phosphorylates Chk2, whilst
ATR is activated by single strand breaks and phosphorylates Chk1.

Gene Wiki entry for ATR (Ataxia telangiectasia and Rad3 related) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATR gene promoter:
         LHX3b/Lhx3b   AP-1   ATF-2   LHX3a/Lhx3a   AP-4   c-Jun   Tal-1beta   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATR promoter sequence
   Search Chromatin IP Primers for ATR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q23   Ensembl cytogenetic band:  3q23   HGNC cytogenetic band: 3q23

ATR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATR gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M142168:  view genomic region     (about GC identifiers)

Start:
142,168,077 bp from pter      End:
142,297,668 bp from pter
Size:
129,592 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ATR_HUMAN, Q13535 (See protein sequence)
Recommended Name: Serine/threonine-protein kinase ATR  
Size: 2644 amino acids; 301367 Da
Cofactor: Manganese
Subunit: Interacts with ATRIP (By similarity). Forms a heterodimer with ATRIP. Binds to DNA, and to UV-damaged DNA
with higher affinity. Interacts with RAD17, MSH2 and HDAC2. Present in a complex containing ATRIP and RPA-coated
single-stranded DNA. Present in a complex containing CHD4 and HDAC2. Interacts with BCR-ABL after genotoxic
stress. Interacts with EEF1E1. This interaction is enhanced by UV irradiation. Interacts with CLSPN and CEP164.
Interacts with TELO2 and TTI1
Secondary accessions: Q59HB2 Q7KYL3 Q93051 Q9BXK4
Alternative splicing: 3 isoforms:  Q13535-1   Q13535-2   Q13535-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATR: NX_Q13535

Explore proteomics data for ATR at MOPED

Post-translational modifications: 

  • Phosphorylated; autophosphorylates in vitro1
  • Ubiquitination2 at Lys32, Lys746, Lys1005, Lys2604
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ATR (Q13535) (see all 5)
     SLQKPKK  FLDLIPQ  LHIRTYAV  HVDFNCLF 


    See ATR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001175.2  
    ENSEMBL proteins: 
     ENSP00000422553   ENSP00000421870   ENSP00000343741   ENSP00000424355   ENSP00000424754  
     ENSP00000425897   ENSP00000426595   ENSP00000372581  
    Reactome Protein details: Q13535

    ATR Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for ATR
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    Novus Biologicals ATR Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ATR

     
    Search eBioscience for Proteins for ATR 

     
    antibodies-online proteins for ATR (2 products) 

     
    Search antibodies-online for peptides for ATR

    ATR Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ATR
    R&D Systems Antibodies for ATR
    Cell Signaling Technology (CST) Antibodies for ATR 
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    Novus Biologicals ATR Antibodies
    Abcam antibodies for ATR
    Cloud-Clone Corp. Antibodies for ATR
    ThermoFisher Antibody for ATR
    antibodies-online antibodies for ATR (23 products) 

    ATR Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ATR
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ATR
    Cloud-Clone Corp. CLIAs for ATR
    Search eBioscience for ELISAs for ATR 
    antibodies-online kits for ATR (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: ataxia telangiectasia and Rad3 related
    ATR subfamily

    Selected InterPro protein domains (see all 11):
     IPR012993 UME
     IPR011990 TPR-like_helical
     IPR011989 ARM-like
     IPR021133 HEAT_type_2
     IPR011009 Kinase-like_dom

    Graphical View of Domain Structure for InterPro Entry Q13535

    ProtoNet protein and cluster: Q13535

    4 Blocks protein domains:
    IPB000357 HEAT repeat
    IPB000403 Phosphatidylinositol 3- and 4-kinase
    IPB003151 PIK-related kinase
    IPB012993 UME


    UniProtKB/Swiss-Prot: ATR_HUMAN, Q13535
    Similarity: Belongs to the PI3/PI4-kinase family. ATM subfamily
    Similarity: Contains 1 FAT domain
    Similarity: Contains 1 FATC domain
    Similarity: Contains 2 HEAT repeats
    Similarity: Contains 1 PI3K/PI4K domain


    Find genes that share domains with ATR           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ATR_HUMAN, Q13535
    Function: Serine/threonine protein kinase which activates checkpoint signaling upon genotoxic stresses such as
    ionizing radiation (IR), ultraviolet light (UV), or DNA replication stalling, thereby acting as a DNA damage
    sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates BRCA1, CHEK1, MCM2, RAD17, RPA2, SMC1
    and p53/TP53, which collectively inhibit DNA replication and mitosis and promote DNA repair, recombination and
    apoptosis. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX at sites of DNA damage, thereby regulating DNA
    damage response mechanism. Required for FANCD2 ubiquitination. Critical for maintenance of fragile site stability
    and efficient regulation of centrosome duplication
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Enzyme regulation: Activated by DNA and inhibited by BCR-ABL oncogene. Slightly activated by ATRIP. Inhibited by
    caffeine, wortmannin and LY294002

         Genatlas biochemistry entry for ATR:
    ataxia telangiectasia and RAD3 related,homologous to cell cycle G2 checkpoint genes Drosophila Mei-41,S cerevisiae
    Mec1p,S pombe RAD3,mainly expressed in testis and skeletal muscle,required for meiosisprophase I (associated with
    synaptomenal complex in RAD51 and RPA sites)

         Enzyme Number (IUBMB): EC 2.7.11.11 2

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0004672protein kinase activity IDA14657349
    GO:0004674protein serine/threonine kinase activity IDA9733515
    GO:0005488binding ----
    GO:0005515protein binding IPI14657349
         
    Find genes that share ontologies with ATR           About GenesLikeMe


    Phenotypes:
         9 GenomeRNAi human phenotypes for ATR:
     Decreased focal adhesion (FA)   Decreased substrate adherent c  Decreased telomerase activity  Decreased viability with cispl 
     Increased apoptosis  Increased cell death HMECs cel  Increased colony dispersion (i  PARP inhibitor sensitization 
     Synthetic lethal with cisplati 

         Selected MGI mutant phenotypes (inferred from 7 alleles(MGI details for Atr) (see all 23):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 

    Find genes that share phenotypes with ATR           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Atrtm1Bal for ATR

       genOway: Develop your customized and physiologically relevant rodent model for ATR

    miRNA
    Products:
        
    miRTarBase miRNAs that target ATR:
    hsa-let-7f-5p (MIRT051394)

    Block miRNA regulation of human, mouse, rat ATR using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate ATR
    SwitchGear 3'UTR luciferase reporter plasmidATR 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ATR

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ATR

    Clone
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    OriGene clones in human, mouse for ATR (see all 6)
    OriGene ORF clones in mouse, rat for ATR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ATR (NM_001184)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATR
    Addgene plasmids for ATR 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATR

    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-13768) for ATR 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ATR_HUMAN, Q13535: Nucleus. Nucleus, PML body (By similarity). Chromosome (By similarity). Note=Depending on
    the cell type, it can also be found in PML nuclear bodies. Recruited to chromatin during S-phase. Redistributes
    to discrete nuclear foci upon DNA damage, hypoxia or replication fork stalling
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane3
    cytoskeleton2
    cytosol2
    extracellular2
    endoplasmic reticulum1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001741XY body IEA--
    GO:0005654nucleoplasm TAS--
    GO:0005694chromosome ISS--
    GO:0016605PML body IDA12814551

    Find genes that share ontologies with ATR           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ATR About   (see all 33)  
    See pathways by source

    SuperPathContained pathways About
    1Cell cycle
    Cell cycle0.59
    Cell cycle0.59
    2p53 signaling pathway
    DNA damage response0.41
    p53 signaling pathway0.41
    3G2/M Checkpoints
    G2/M Checkpoints0.84
    G2/M DNA damage checkpoint0.00
    Activation of ATR in response to replication stress0.84
    4Chks in Checkpoint Regulation
    Chks in Checkpoint Regulation0.59
    DNA Repair Mechanisms0.32
    G2-M Phase Transition0.59
    5Cyclins and Cell Cycle Regulation
    Cyclins and Cell Cycle Regulation0.67
    G1-S Phase Transition0.67


    Find genes that share SuperPaths with ATR           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ATR (see all 13)
        BRCA1 Pathway
    Molecular Mechanisms of Cancer
    DNA Damage Induced 14-3-3Sigma Signaling
    G1-S Phase Transition
    p53 Mediated Apoptosis

    2 Cell Signaling Technology (CST) Pathways for ATR
        Cell Cycle / Checkpoint Control
    DNA Damage

    1 Tocris Bioscience Pathway for ATR
        Apoptosis Pathway

    5 GeneGo (Thomson Reuters) Pathways for ATR
        DNA damage Role of Brca1 and Brca2 in DNA repair
    DNA damage ATM/ATR regulation of G1/S checkpoint
    Transcription P53 signaling pathway
    DNA damage DNA-damage-induced responses
    Cell cycle Role of 14-3-3 proteins in cell cycle regulation

    Selected BioSystems Pathways for ATR (see all 9)
        Cell cycle
    DNA damage response
    Integrated Breast Cancer Pathway
    Prostate Cancer
    BARD1 signaling events

    5 Reactome Pathways for ATR
        Regulation of HSF1-mediated heat shock response
    Regulation of the Fanconi anemia pathway
    Activation of ATR in response to replication stress
    Meiotic synapsis
    G2/M DNA damage checkpoint


    4 Kegg Pathways  (Kegg details for ATR):
        Fanconi anemia pathway
    Cell cycle
    p53 signaling pathway
    HTLV-I infection

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ATR (see all 7): 
              Cell Cycle in human mouse rat
              DNA Damage Signaling Pathway in human mouse rat
              p53 Signaling Pathway in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ATR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ATR (Q135351, 2, 3 ENSP000003437414) via UniProtKB, MINT, STRING, and/or I2D (see all 922)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053, ENSP000003529804I2D: score=4 STRING: ENSP00000352980
    HIST1H4CP628053, ENSP000003670344I2D: score=4 STRING: ENSP00000367034
    HIST1H4DP628053, ENSP000003432824I2D: score=4 STRING: ENSP00000343282
    HIST1H4EP628053, ENSP000003536244I2D: score=4 STRING: ENSP00000353624
    HIST1H4HP628053, ENSP000002893524I2D: score=4 STRING: ENSP00000289352
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000077DNA damage checkpoint IDA14657349
    GO:0006260DNA replication TAS--
    GO:0006281DNA repair TAS--
    GO:0006468protein phosphorylation ----
    GO:0006974cellular response to DNA damage stimulus TAS15538388

    Find genes that share ontologies with ATR           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
    4 ApexBio Compounds for ATR     About this table
    CompoundAction CAS #
    AZ20potent and selective inhibitor of ATR[1233339-22-4]
    KU 55933Potent and selective ATM inhibitor[587871-26-9]
    KU-60019Potent and selective ATM kinase inhibitor[925701-49-1]
    VE-821Cell-permeable and ATP-competitive ATM kinase inhibitor[1232410-49-9]

    Compounds for ATR available from Tocris Bioscience    About this table
    CompoundAction CAS #
    KU 55933Potent and selective ATM kinase inhibitor[587871-26-9]
    KU 60019Potent ATM kinase inhibitor[925701-46-8]

    3 HMDB Compounds for ATR    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Manganesemanganese 7439-96-5--

    Selected Novoseek inferred chemical compound relationships for ATR gene (see all 17)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rpa 2 74.1 4 16483312 (3), 15197179 (1)
    caffeine 59.6 20 16479016 (2), 10597277 (2), 15169897 (1), 15709017 (1) (see all 14)
    hydroxyurea 58 7 16293623 (2), 15197179 (1), 11711532 (1), 11016625 (1) (see all 6)
    wortmannin 57.3 8 9766667 (2), 15709017 (1), 19414815 (1), 15533933 (1) (see all 7)
    aphidicolin 55 10 20060399 (5), 15309689 (1)
    camptothecin 42 6 16483312 (3), 15699047 (2), 20304914 (1)
    phosphoinositide 41.5 6 12011431 (1), 19763948 (1), 12234250 (1), 14729973 (1) (see all 6)
    methylmethanesulfonate 26.7 4 12670903 (1), 17292679 (1)
    okadaic acid 22.6 3 16479016 (2)
    phosphatidylinositol 22 5 20304914 (1), 10801416 (1), 16603769 (1), 16483312 (1)



    Find genes that share compounds with ATR           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ATR gene: 
    NM_001184.3  

    Unigene Cluster for ATR:

    Ataxia telangiectasia and Rad3 related
    Hs.271791  [show with all ESTs]
    Unigene Representative Sequence: NM_001184
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000504521 ENST00000515810 ENST00000350721(uc003eux.4) ENST00000513291(uc003euy.1)
    ENST00000515107 ENST00000511016 ENST00000514393 ENST00000507620 ENST00000515863
    ENST00000515149 ENST00000507148 ENST00000383101
    miRNA
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    eBioscience FlowRNA Probe Sets ( VA1-13768) for ATR 

    Additional mRNA sequence: 

    AB208847.1 AK024078.1 AK307402.1 U49844.1 U76308.1 Y09077.1 

    12 DOTS entries:

    DT.449930  DT.92432319  DT.449932  DT.92060084  DT.95270707  DT.100659600  DT.100740582  DT.91973306 
    DT.97817961  DT.100678744  DT.100678754  DT.99990398 

    Selected AceView cDNA sequences (see all 94):

    BE859077 BX507341 BQ940681 BM129718 CK819648 BM855140 AV728129 AK131535 
    CA503113 BM141963 BG679313 AU117004 AI078770 BU616550 AI285634 AK024078 
    BX508821 AW237573 BQ226453 AW769028 CD610878 AW152454 CA771525 BG192205 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ATR    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            

    ExUns: 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38a · 38b ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45a · 45b ^ 46a · 46b ^ 47 ^ 48a · 48b
    SP1:                                                                                                                                      -     -               
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                      -                     


    ECgene alternative splicing isoforms for ATR

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ATR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ATR Expression
    About this image


    ATR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot
    ATR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.271791

    UniProtKB/Swiss-Prot: ATR_HUMAN, Q13535
    Tissue specificity: Ubiquitous, with highest expression in testis. Isoform 2 is found in pancreas, placenta and
    liver but not in heart, testis and ovary

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ATR (see all 7): 
              Cell Cycle in human mouse rat
              DNA Damage Signaling Pathway in human mouse rat
              p53 Signaling Pathway in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATR

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ATR gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atr1 , 5 ataxia telangiectasia and Rad3 related1, 5 88.63(n)1
    90.67(a)1
      9 (50.27 cM)5
    2450001  NM_019864.11  NP_063917.11 
     958575975 
    chicken
    (Gallus gallus)
    Aves ATR1 ataxia telangiectasia and Rad3 related 75.3(n)
    78.28(a)
      424777  XM_003641741.2  XP_003641789.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATR6
    ataxia telangiectasia and Rad3 related
    73(a)
    1 ↔ 1
    3(21838071-21893222)
    African clawed frog
    (Xenopus laevis)
    Amphibia Atr2 Atr protein 78.68(n)    AF320125.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atr1 ataxia telangiectasia and Rad3 related 63.51(n)
    66.26(a)
      567770  XM_691071.5  XP_696163.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta mei-416
    meiotic 41
    27(a)
    1 → many
    X(16285794-16293601)
    worm
    (Caenorhabditis elegans)
    Secernentea atl-16
    Protein ATL-1, isoform a
    20(a)
    1 → many
    V(9634861-9645502) WBGene00000226
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MEC1(YBR136W)4 Genome integrity checkpoint protein and PI kinase superfamily more   --   2(505668-512774) 852433  NP_009694.1 


    ENSEMBL Gene Tree for ATR (if available)
    TreeFam Gene Tree for ATR (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATR gene
    PRKDC2  
    3 SIMAP similar genes for ATR using alignment to 7 protein entries:     ATR_HUMAN (see all proteins):
    MTOR    TCF4    SMG1

    Find genes that share paralogs with ATR           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ATR (see all 2706)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0415974
    A lung large cell carcinoma sample4--see VAR_0415972 S I mis40--------
    VAR_0416014
    A breast infiltrating ductal carcinoma sample4--see VAR_0416012 E Q mis40--------
    VAR_0416004
    A breast pleomorphic lobular carcinoma sample4--see VAR_0416002 E K mis40--------
    VAR_0415914
    A lung squamous cell carcinoma sample4--see VAR_0415912 A P mis40--------
    VAR_0679194
    Cutaneous telangiectasia and cancer syndrome, familial (FCTCS)4--see VAR_0679192 Q R mis40--------
    VAR_0415944
    A lung adenocarcinoma sample4--see VAR_0415942 A G mis40--------
    rs1464136491,2
    Cuntested1142259137(+) AAAAAA/G/TAAATA 2 L F mis10--------
    rs2018428381,2
    --139635371(+) CTCTT-/TTCC  
            
    TTCCT
    1 -- int10--------
    rs1457328091,2
    --142144939(+) TTTCAA/TGACCA 1 -- ds50010--------
    rs1386707791,2
    --142144969(+) ACTGCA/GGTATG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for ATR (142168077 - 142297668 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ATR:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv528954CNV Loss19592680
    dgv827n67CNV Loss20364138
    dgv5266n71CNV Loss21882294
    nsv877556CNV Loss21882294
    nsv523945CNV Gain19592680

    Human Gene Mutation Database (HGMD): ATR
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATR
    DNA2.0 Custom Variant and Variant Library Synthesis for ATR

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601215   
    OMIM disorders: 210600  614564  
    UniProtKB/Swiss-Prot: ATR_HUMAN, Q13535
  • Seckel syndrome 1 (SCKL1) [MIM:210600]: A rare autosomal recessive disorder characterized by
    proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe
    microcephaly with a bird-headed like appearance, and mental retardation. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Cutaneous telangiectasia and cancer syndrome, familial (FCTCS) [MIM:614564]: A disease characterized by
    cutaneous telangiectases in infancy with patchy alopecia over areas of affected skin, thinning of the lateral
    eyebrows, and mild dental and nail anomalies. Affected individuals are at increased risk of developing
    oropharyngeal cancer, and other malignancies have been reported as well. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 14 diseases for ATR:    
    About MalaCards
    seckel syndrome type 1    cutaneous telangiectasia and cancer syndrome, familial    chronic active epstein-barr virus infection    jawad syndrome
    gapo syndrome    hemangioma, capillary infantile    ataxia telangiectasia    branchiootic syndrome
    seckel syndrome    branchiootic syndrome 1    anterior segment anomalies with or without cataract    seckel syndrome type 8
    ataxia    primary autosomal recessive microcephalies and seckel syndrome spectrum disorders

    5 diseases from the University of Copenhagen DISEASES database for ATR:
    Seckel syndrome     Mucoepidermoid carcinoma     Ataxia telangiectasia     Microcephaly
    Nijmegen breakage syndrome

    Find genes that share disorders with ATR           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ATR gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ataxia telangiectasia 93.1 84 8824640 (2), 20103595 (2), 17297454 (2), 17526493 (2) (see all 61)
    seckel syndrome 80.9 8 15496423 (2), 19504344 (2), 15309689 (1), 12640452 (1) (see all 5)
    microsatellite instability 42.7 4 15282542 (1), 19470935 (1), 16103057 (1)
    microcephaly 38.1 2 16015581 (2)
    cancer 34 10 16103057 (2), 19570909 (1), 10367890 (1), 15987455 (1) (see all 8)
    breast cancer 23.5 7 17010193 (3), 19477925 (1)
    promyelocytic leukemia 19.7 1 17030982 (1)
    immunodeficiency 17.3 6 17210576 (2), 16306615 (2), 15650165 (1), 15709017 (1)
    ovarian cancer 11.5 4 15987455 (3), 17010193 (1)
    tumors 4.78 10 15282542 (2), 17010193 (1), 12670903 (1), 19470935 (1) (see all 6)

    Genetic Association Database (GAD): ATR
    Human Genome Epidemiology (HuGE) Navigator: ATR (43 documents)

    Export disorders for ATR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ATR gene, integrated from 10 sources (see all 478):
    (articles sorted by number of sources associating them with ATR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning and gene mapping of a candidate human cell cycle checkpoint protein. (PubMed id 8610130)1, 2, 3, 9 Cimprich K.A.... Schreiber S.L. (Proc. Natl. Acad. Sci. U.S.A. 1996)
    2. The Schizosaccharomyces pombe rad3 checkpoint gene. (PubMed id 8978690)1, 2, 3 Bentley N.J.... Carr A.M. (EMBO J. 1996)
    3. Recruitment of the cell cycle checkpoint kinase ATR to chromatin during S-phase. (PubMed id 14871897)1, 2, 9 Dart D.A.... Lakin N.D. (J. Biol. Chem. 2004)
    4. ATR and ATRIP: partners in checkpoint signaling. (PubMed id 11721054)1, 2, 9 Cortez D.... Elledge S.J. (Science 2001)
    5. ATR is a caffeine-sensitive, DNA-activated protein kinase with a substrate specificity distinct from DNA-PK. (PubMed id 10597277)1, 2, 9 Hall-Jackson C.A.... Smythe C. (Oncogene 1999)
    6. The Atr and Atm protein kinases associate with different sites along meiotically pairing chromosomes. (PubMed id 8843195)1, 2, 9 Keegan K.S.... Hoekstra M.F. (Genes Dev. 1996)
    7. ATR mutation in endometrioid endometrial cancer is associated with poor clinical outcomes. (PubMed id 19470935)1, 4, 9 Zighelboim I....Goodfellow P.J. (J. Clin. Oncol. 2009)
    8. Mutation analysis of the ATR gene in breast and ovarian cancer families. (PubMed id 15987455)1, 4, 9 Heikkinen K....Winqvist R. (Breast Cancer Res. 2005)
    9. Quaternary structure of ATR and effects of ATRIP and replication protein A on its DNA binding and kinase activities. (PubMed id 14729973)1, 2, 9 Uensal-Kacmaz K. and Sancar A. (Mol. Cell. Biol. 2004)
    10. Preferential binding of ATR protein to UV-damaged DNA. (PubMed id 12011431)1, 2, 9 Uensal-Kacmaz K.... Sancar A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 545 HGNC: 882 AceView: ATR Ensembl:ENSG00000175054 euGenes: HUgn545
    ECgene: ATR Kegg: 545 H-InvDB: ATR

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ATR Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ATR Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ATR[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ATR gene:
    Search GeneIP for patents involving ATR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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