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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATR Gene

protein-coding   GIFtS: 72
GCID: GC03M142168

Ataxia Telangiectasia And Rad3 Related

Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
Ataxia Telangiectasia And Rad3 Related1 2     Mitosis Entry Checkpoint 11
FRP12 3 5     FCTCS2
MEC11 2     SCKL12
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
SCKL2 5     Rad3 Related Protein2
Homolog (S. Cerevisiae)1     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and seckel syndrome 1, and among its related super-pathways are Fanconi Anemia pathway and Cell cycle. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ATR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: 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
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:

  • UniProtKB: Phosphorylated; autophosphorylates in vitro
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13535

  • 4/5 DME Specific Peptides for ATR (Q13535) (see all 5)
     SLQKPKK  FLDLIPQ  LHIRTYAV  HVDFNCLF 

    ATR Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATR Protein Expression
    REFSEQ proteins: NP_001175.2  
    ENSEMBL proteins: 
     ENSP00000422553   ENSP00000421870   ENSP00000343741   ENSP00000424355   ENSP00000424754  
     ENSP00000425897   ENSP00000426595   ENSP00000372581  
    Reactome Protein details: Q13535
    Human Recombinant Protein Products for ATR: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for ATR
    GenScript Custom Purified and Recombinant Proteins Services for ATR
    Novus Biologicals ATR Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ATR 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    ATR for ontologies           About GeneDecksing



    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 
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for ATR
    GenScript Superior Antibodies for ATR
    Novus Biologicals ATR Antibodies
    Abcam antibodies for ATR
    Cloud-Clone Corp. Antibodies for ATR 
    ThermoFisher Antibody for ATR
    LSBio Antibodies in human, mouse, rat for ATR 

    Assay Products for ATR: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ATR
    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


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

    5/11 InterPro protein domains (see all 11):
     IPR000403 PI3/4_kinase_cat_dom
     IPR012993 UME
     IPR011990 TPR-like_helical
     IPR011989 ARM-like
     IPR021133 HEAT_type_2

    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


    ATR for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/10 molecular function terms (GO ID links to tree view) (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
         
    ATR for ontologies           About GeneDecksing


    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 

         15/23 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  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 

    ATR for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Atrtm1Bal for ATR

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ATR 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ATR

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATR 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ATR 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATR
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate ATR
    SwitchGear 3'UTR luciferase reporter plasmidATR 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ATR
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATR

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


    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    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

    Cell Line
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    Search LifeMap BioReagents cell lines for ATR
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATR


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ATR About   (see all 32)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Fanconi Anemia pathway
    Fanconi's Anaemia Pathway0.43
    Regulation of the Fanconi anemia pathway0.42
    Fanconi Anemia pathway0.43
    BARD1 signaling events0.41
    2Cell cycle
    Cell cycle0.59
    Cell cycle0.59
    3p53 signaling pathway
    DNA damage response0.41
    p53 signaling pathway0.41
    4Meiotic Synapsis
    Meiotic Synapsis0.70
    Chromosome Maintenance0.56
    Meiosis0.70
    5Chks in Checkpoint Regulation
    Chks in Checkpoint Regulation0.59
    DNA Repair Mechanisms0.32
    G2-M Phase Transition0.59

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    5/13 Downloadable PowerPoint Slides of QIAGEN 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

    5/9 BioSystems Pathways for ATR (see all 9)
        DNA damage response
    Cell cycle
    Integrated Breast Cancer Pathway
    Prostate Cancer
    p53 pathway

    5/11        Reactome Pathways for ATR (see all 11)
        DNA Repair
    Regulation of the Fanconi anemia pathway
    Activation of ATR in response to replication stress
    Cell Cycle
    Meiotic Synapsis


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


    ATR for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ATR

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

    5/745 Interacting proteins for ATR (Q135351, 2, 3 ENSP000003437414) via UniProtKB, MINT, STRING, and/or I2D (see all 745)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=4 
    HIST1H4BP628053I2D: score=4 
    HIST1H4CP628053I2D: score=4 
    HIST1H4DP628053I2D: score=4 
    HIST1H4EP628053I2D: score=4 
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    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:0006974response to DNA damage stimulus TAS15538388

    ATR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ATR for compounds           About GeneDecksing

    EMD Millipore small molecules for ATR:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    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--

    10/17 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)

    Search CenterWatch for drugs/clinical trials and news about ATR

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    GenScript: all cDNA clones in your preferred vector: ATR (NM_001184)
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat 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 

    24/94 AceView cDNA sequences (see all 94):

    BM129718 BE859077 CA503113 CK819648 BQ940681 AK131535 BX507341 BM855140 
    AV728129 BM141963 AA969753 BM129429 AI027417 BU616550 AW769028 AW152454 
    CA771217 BI259481 AI127664 BM796532 AI280393 AK024078 BF110182 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ATR expression in normal human tissues (normalized intensities)      ATR embryonic expression: see
    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 
     5/3 selected tissues (see all 3) fully expand
     
     Endothelium (Cardiovascular System)
             blood vessel   
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot
     
     Oral Cavity (Gastrointestinal Tract)
             TONGUE   

    See ATR Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATR

    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

        SABiosciences Expression via Pathway-Focused 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

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

    Orthologs for ATR gene from 8/16 species (see all 16)    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 75.34(n)
    78.31(a)
      424777  XM_003641741.1  XP_003641789.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATR6
    ataxia telangiectasia and Rad3 related
    71(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 63.49(n)
    66.16(a)
      567770  XM_691071.4  XP_696163.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta mei-416
    meiotic 41
    20(a)
    1 ↔ 1
    X(16285794-16293601)
    worm
    (Caenorhabditis elegans)
    Secernentea atl-16
    Serine/threonine-protein kinase ATR
    10(a)
    1 → many
    V(9634861-9645502)
    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)
    About This Section
    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

    ATR for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2706 SNPs in ATR are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601215   
    OMIM disorders: 210600  
    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

  • 20/52 diseases for ATR (see all 52):    About MalaCards
    seckel syndrome    seckel syndrome 1    jawad syndrome    ataxia telangiectasia
    chronic active epstein-barr virus infection    seckel syndrome 4    ataxia    blepharophimosis, ptosis, and epicanthus inversus syndrome
    blepharophimosis    dna ligase iv deficiency    xeroderma pigmentosum, group a    ehrlichiosis
    nijmegen breakage syndrome    hereditary pancreatitis    microcephaly    bloom syndrome
    werner syndrome    xeroderma pigmentosum    hepatitis b virus infection    mucoepidermoid carcinoma

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

    ATR for disorders           About GeneDecksing

    10/13 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)
    About This Section

    PubMed articles for ATR gene, integrated from 9 sources (see all 460):
    (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. (1996)
    2. The Schizosaccharomyces pombe rad3 checkpoint gene. (PubMed id 8978690)1, 2, 3 Bentley N.J.... Carr A.M. (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. (2004)
    4. ATR and ATRIP: partners in checkpoint signaling. (PubMed id 11721054)1, 2, 9 Cortez D.... Elledge S.J. (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. (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. (1996)
    7. ATR mutation in endometrioid endometrial cancer is as sociated with poor clinical outcomes. (PubMed id 19470935)1, 4, 9 Zighelboim I....Goodfellow P.J. (2009)
    8. Mutation analysis of the ATR gene in breast and ovarian cancer families. (PubMed id 15987455)1, 4, 9 Heikkinen K....Winqvist R. (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. (2004)
    10. Preferential binding of ATR protein to UV-damaged DNA. (PubMed id 12011431)1, 2, 9 Uensal-Kacmaz K.... Sancar A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 545 HGNC: 882 AceView: ATR Ensembl:ENSG00000175054 euGenes: HUgn545
    ECgene: ATR Kegg: 545 H-InvDB: ATR

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/ATR

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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