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ATM Gene

protein-coding   GIFtS: 74

GC11P104019
ataxia telangiectasia mutated
(Previous names: ataxia telangiectasia mutated (includes complementation groups A, C and D) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: ATA, ATDC, ATC, ATD)
Products    

Aliases &
Descriptions
for ATM gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases & Descriptions
ataxia telangiectasia mutated1 2 3     AT mutated2
TELO11 2     ATC2
TEL11 2     TEL1, telomere maintenance 1, homolog2
A-T mutated2 3     ATE2
ATA2 5     DKFZp781A03532
AT12 5     ATDC2
ataxia telangiectasia mutated (includes complementation groups A, C and D)1     MGC746742
ATD2     EC 2.7.11.13
serine-protein kinase ATM2     

External Ids:    HGNC: 7951   Entrez Gene: 4722   Ensembl: ENSG000001493117   UniProtKB: Q133153   

Export aliases for ATM gene to outside databases

Previous GC identifers: GC11P110302 GC11P109450 GC11P108127 GC11P107631 GC11P107599


Summaries
for ATM gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ATM:
The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle
checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins,
including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA
repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell
cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability.
Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. (provided by
RefSeq)

UniProtKB/Swiss-Prot: ATM_HUMAN, Q13315
Function: Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs),
apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor.
Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX at double
strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also plays a role in pre-B cell allelic
exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and
monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B lymphocytes. After the
introduction of DNA breaks by the RAG complex on one immunoglobulin allele, acts by mediating a repositioning of the
second allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the
second allele. Also involved in signal transduction and cell cycle control. May function as a tumor suppressor.
Necessary for activation of ABL1 and SAPK. Phosphorylates p53/TP53, FANCD2, NFKBIA, BRCA1, CTIP, nibrin (NBN), TERF1,
RAD9 and DCLRE1C. May play a role in vesicle and/or protein transport. Could play a role in T-cell development, gonad
and neurological function. Plays a role in replication-dependent histone mRNA degradation. Binds DNA ends

summary for ATM:
ATM (Ataxia telangiectasia mutated) and ATR (Ataxia telangiectasia and Rad3 related) 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 ATM (Ataxia telangiectasia mutated)

Genomic Views
for ATM 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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATM gene promoter:
         deltaCREB   AP-1   CREB   c-Jun   c-Fos   STAT5A   GATA-1   GATA-2   GATA-3   AhR   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for ATM

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for ATM 


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

Entrez Gene cytogenetic band: 11q22-q23   Ensembl cytogenetic band:  11q22.3   HGNC cytogenetic band: 11q22-q23

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

GeneLoc gene densities for chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P104019:  view genomic region     (about GC identifiers)

Start:
 104,019,183 bp from pter
End:
 104,165,444 bp from pter
Size:
 146,262 bases
Orientation:
 plus strand

1 alternative location:
Chr11+ 108,093,559-108,239,826     
RefSeq DNA sequence:
NC_000011.9  NT_033899.8  

Proteins
for ATM gene

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section
UniProtKB/Swiss-Prot: ATM_HUMAN, Q13315 (See protein sequence)
Recommended Name: Serine-protein kinase ATM  
Size: 3056 amino acids; 350687 Da
Subunit: Dimers or tetramers in inactive state. On DNA damage, autophosphorylation dissociates ATM into monomers
rendering them catalytically active. Binds p53/TP53, ABL1, BRCA1, NBN/nibrin and TERF1. Part of the BRCA1-associated
genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBN
protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear
domains. Interacts with RAD17; DNA damage promotes the association. Interacts with EEF1E1; the interaction, induced on
DNA damage, upregulates TP53. Interacts with DCLRE1C, MYST1, KAT5, OBFC2B, ATMIN and CEP164. Interacts with AP2B1 and
AP3B2; the interaction occurs in cytoplasmic vesicles (By similarity). Interacts with TELO2 and TTI1. Interacts with
DDX1
Subcellular location: Nucleus. Cytoplasmic vesicle. Note=Primarily nuclear. Found also in endocytic vesicles in
association with beta-adaptin
Sequence caution: Sequence=AAA86520.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAA86520.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact; Sequence=AAI37170.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAI37170.1; Type=Miscellaneous
discrepancy; Note=Probable cloning artifact; Sequence=EAW67111.1; Type=Erroneous gene model prediction;
Secondary accessions: B2RNX5 O15429 Q12758 Q16551 Q93007 Q9NP02 Q9UCX7

Explore the universe of human proteins at neXtProt for ATM: NX_Q13315 

Post-translational modifications:

  • Phosphorylated by NUAK1/ARK5. Autophosphorylation on Ser-367, Ser-1983, Ser-1981 correlates with DNA damage-mediated
    • activation of the kinase1
  • Acetylation, on DNA damage, is required for activation of the kinase activity, dimer-monomer transition, and subsequent
    • autophosphorylation on Ser-1981. Acetylated in vitro by KAT5/TIP601
  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins: NP_000042.3  

    ENSEMBL proteins: 
    ENSP00000278616 ENSP00000388058 ENSP00000374162 ENSP00000415495 ENSP00000299392 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Sigma-Aldrich AQUA Peptides for ATM
    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
    GenScript Purified and Recombinant Proteins for ATM 
    Novus Biologicals Proteins for ATM
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    5 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000781colocalizes with chromosome, telomeric region IDA15149599
    GO:0005634 nucleus IEA--
    GO:0005654 nucleoplasm TAS--
    GO:0005819 spindle IEA--
    GO:0016023 cytoplasmic membrane-bounded vesicle IEA--
    About this table

    ATM for ontologies           About GeneDecksing



    Antibodies for ATM: 
    Millipore Mono- and Polyclonal Antibodies for the study of ATM
    Sigma-Aldrich Antibody Arrays and Antibodies for ATM
    R&D Systems Antibodies for ATM
    Cell Signaling Technology (CST) Antibodies for ATM 
    OriGene Antibodies: ATM
    GenScript Superior Antibodies for ATM 
    Novus Biologicals Antibodies for ATM
    Epitomics antibodies for ATM

    Assays for ATM: 
    Millipore Kits and Assays for the Analysis of ATM
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    R&D Systems ELISAs for ATM
    GenScript Custom Assay Services for ATM 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for ATM 

    Protein Domains/
    Families
    for ATM gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ATM for domains           About GeneDecksing

    5/9 InterPro domains/families (see all 9):
     IPR011009 Kinase-like_dom
     IPR021668 TAN
     IPR014009 PIK_FAT
     IPR000403 PI3/4_kinase_cat
     IPR003151 PIK-rel_kinase_FAT

    Graphical View of Domain Structure for InterPro Entry Q13315

    ProtoNet protein and cluster: Q13315

    2 Blocks protein families:
    IPB000403 Phosphatidylinositol 3- and 4-kinase
    IPB003151 PIK-related kinase


    UniProtKB/Swiss-Prot: ATM_HUMAN, Q13315
    Domain: The FATC domain is required for interaction with KAT5
    Similarity: Belongs to the PI3/PI4-kinase family. ATM subfamily
    Similarity: Contains 1 FAT domain
    Similarity: Contains 1 FATC domain
    Similarity: Contains 1 PI3K/PI4K domain


    Gene Function
    for ATM gene

    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: ATM_HUMAN, Q13315
    Function: Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs),
    apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor.
    Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX at double
    strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also plays a role in pre-B cell allelic
    exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and
    monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B lymphocytes. After the
    introduction of DNA breaks by the RAG complex on one immunoglobulin allele, acts by mediating a repositioning of the
    second allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the
    second allele. Also involved in signal transduction and cell cycle control. May function as a tumor suppressor.
    Necessary for activation of ABL1 and SAPK. Phosphorylates p53/TP53, FANCD2, NFKBIA, BRCA1, CTIP, nibrin (NBN), TERF1,
    RAD9 and DCLRE1C. May play a role in vesicle and/or protein transport. Could play a role in T-cell development, gonad
    and neurological function. Plays a role in replication-dependent histone mRNA degradation. Binds DNA ends
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Enzyme regulation: Inhibited by wortmannin
    Induction: By ionizing radiation
    Enzyme Number (IUBMB): EC 2.7.11.1 

    Inhib.
    RNA:            		Millipore RNAi Products for the Analysis of ATM Gene knock-down
    Sigma-Aldrich Nano Scale siRNA for ATM
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for ATM
    Sigma-Aldrich shRNA Panels and shRNA for ATM
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 4): ATM
    OriGene shRNA RFP (see all 4): ATM
    OriGene basic RS shRNA (see all 4): ATM
    OriGene siRNA (see all 3): ATM
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of ATM 
    miRNA:Sigma-Aldrich microRNA Mimics for ATM
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of ATM 
    8/10 SABiosciences Assays for microRNAs that regulate ATM (see all 10):
    hsa-miR-203 hsa-miR-18a hsa-miR-181c hsa-miR-181a hsa-miR-519c-3p hsa-miR-181d hsa-miR-519a hsa-miR-548c-3p

    Gene
    Editing:    		Sigma-Aldrich CompoZr Knockout ZFN for ATM 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): ATM
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): ATM
    OriGene untagged cDNA clones in CMV expression vector (see all 2): ATM
    OriGene 3'-UTR clone (see all 2): ATM 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for ATM 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:          		GenScript Custom overexpressing Cell Line Services for ATM 

    Genatlas biochemistry entry for ATM:
    ataxia telangiectasia,mutated,protein kinase,involved in cellular responses to ionizing radiation (IR)-induced DNA
    damage such as double strand breaks and cell cycle control through phosphorylation of BRCA1,homologous to cell cycle
    G2 checkpoint gene yeast MEC1 and related TEL1,RAD3 (S pombe),Drosophila mei-41,also homologous to yeast TOR1,TOR2,
    activating TP53 in association with 14.3.3 proteins YWHA*,and leading to cell cycle arrest and apoptosis,also
    activating ABL1 (cABL) and TP73 in a mismatch repair dependent apoptosis pathway,interacting with beta adaptin for the
    axonal transport and vesicle trafficking in the central nervous system,mutated (somatic mutation) in B cell chronic
    lymphocytic leukemia,also mutated in ataxia telangiectasia (see AT),but not mutated in childhood T-ALL,deleted in
    mantle cell lymphoma (see also TSG11F)

    5/16 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 16):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0003677 DNA binding IEA--
    GO:0004672 protein kinase activity ----
    GO:0004674 protein serine/threonine kinase activity IDA--
    GO:0004677 DNA-dependent protein kinase activity IDA15790808
    About this table

    ATM for ontologies           About GeneDecksing

    Animal Models: 13 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Atm):

    behavior/neurologicalcellularembryogenesisendocrine/exocrine glandgrowth/size
    hematopoietic systemimmune systemlethality-prenatal/perinatallife span-post-weaning/agingnervous system
    no phenotypic analysisreproductive systemtumorigenesis

    ATM for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ATM gene

    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    ATM for pathways           About GeneDecksing

    5 Millipore Pathways for ATM
        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

    5/11 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  ATM (see all 11)
        Hereditary Breast Cancer Signaling
    Role of BRCA1 in DNA Damage Response
    p53 Signaling
    Molecular Mechanisms of Cancer
    Hypoxia Signaling in the Cardiovascular System

    2 Cell Signaling Technology (CST) Pathways for ATM
        Translational Control: Regulation of eIF2
    NF-kB Signaling

    3 Kegg Pathways  (Kegg details for ATM):
        hsa04110 Cell cycle
    hsa04115 p53 signaling pathway
    hsa04210 Apoptosis

        SABiosciences Pathway-Focused PCR Arrays including ATM (see all 10): PAHS-003A PAHS-004A  

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for ATM
        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ATM

    5/585 Interacting proteins for ATM (Q133151, 2) via UniProtKB, MINT, and/or STRING (see all 585)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP1CAP621361, 2EBI-495465,EBI-357253 MINT-7945693
    SMC1AQ146831, 2EBI-495465,EBI-80690 MINT-7945693
    AATFQ9NY611EBI-495465,EBI-372428
    ABL1P005191EBI-495465,EBI-375543
    ATMQ133151EBI-495465,EBI-495465
    About this table

    5/35 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 35):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000075 cell cycle checkpoint TAS--
    GO:0000077 DNA damage checkpoint ----
    GO:0000724 double-strand break repair via homologous recombination TAS--
    GO:0001302 replicative cell aging IMP15149599
    GO:0001756 somitogenesis IEA--
    About this table

    ATM for ontologies           About GeneDecksing



    Drugs & Compounds
    for ATM gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    ATM for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ATM available from Tocris Bioscience
    CompoundAction CAS number
    KU 55933Potent and selective ATM kinase inhibitor[587871-26-9]
    CGK 733Selective inhibitor of ATR and ATM kinases[905973-89-9]
    MirinMRN-ATM pathway inhibitor--
    About this table


    10/46 Novoseek chemical compound relationships for ATM gene (see all 46)
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylinositol 58.6 27 11114307 (1), 17507690 (1), 9442910 (1), 12513844 (1) (see all 24)
    wortmannin 56.5 24 10771089 (3), 15173573 (2), 9808536 (2), 15709017 (1) (see all 14)
    neocarzinostatin 50.7 3 15345673 (1), 9244351 (1), 9050866 (1)
    caffeine 50.2 33 10485486 (4), 16479016 (2), 11864911 (2), 10744722 (2) (see all 19)
    aphidicolin 46.5 5 11279043 (1), 11114888 (1)
    hydroxyurea 43.4 6 11689451 (1), 16293623 (1), 11114888 (1)
    topotecan 35.2 11 18802408 (3), 16426422 (3), 16760673 (2), 16184611 (1)
    camptothecin 32.1 15 20304914 (5), 15699047 (2), 16158199 (1), 10327072 (1)
    mitoxantrone 30.9 10 16760673 (4), 18802408 (3), 16184611 (1), 19411853 (1)
    ly294002 30.4 8 10771089 (3), 18589211 (1), 19038232 (1)
    About this table



    Transcripts
    for ATM gene

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section
    Inhib.
    RNA:             		Millipore RNAi Products for the Analysis of ATM Gene knock-down
    Sigma-Aldrich Nano Scale siRNA for ATM
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for ATM
    Sigma-Aldrich shRNA Panels and shRNA for ATM
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 4): ATM
    OriGene shRNA RFP (see all 4): ATM
    OriGene basic RS shRNA (see all 4): ATM
    OriGene siRNA (see all 3): ATM
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of ATM 
    miRNA: Sigma-Aldrich microRNA Mimics for ATM
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of ATM 
    8/10 SABiosciences Assays for microRNAs that regulate ATM (see all 10):
    hsa-miR-203 hsa-miR-18a hsa-miR-181c hsa-miR-181a hsa-miR-519c-3p hsa-miR-181d hsa-miR-519a hsa-miR-548c-3p
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): ATM
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): ATM
    OriGene untagged cDNA clones in CMV expression vector (see all 2): ATM
    OriGene 3'-UTR Clone (see all 2): ATM 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for ATM 
    Primers: OriGene genome-wide validated SYBR primer pairs: ATM
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for ATM: PPH00325A

    REFSEQ mRNAs for ATM gene: 

    NM_000051.3  

    Additional cDNA sequence: 

    AF035326.1 AF035327.1 AF035328.1 AK093586.1 AK299843.1 BC007023.2 BC022306.1 BC061584.1 
    BC152385.1 BC152389.1 BT006764.1 BX640631.1 CR749436.1 HM437232.1 U33841.1 U67093.1 
    X91196.1 Y08455.1 

    20 DOTS entries:

    DT.102832095  DT.100750015  DT.91916232  DT.91717023  DT.101977439  DT.99971554  DT.451837  DT.99928041 
    DT.100750014  DT.65284599  DT.120760397  DT.75194025  DT.97778369  DT.120760409  DT.120760412  DT.120760428 
    DT.40122485  DT.91664691  DT.97825561  DT.99957611 

    24/200 AceView cDNA sequences (see all 200):

    BC061584 AI523344 U26455 BX642224 N49371 U33841 AL706720 NM_138292 
    AA149504 AA236739 AI479273 BM697241 AA149636 AA890626 AA632114 AK093586 
    NM_000051 AI559463 AA421745 CD721939 BX504088 BM671057 AA962359 BF981497 

    highest scoring ESTs for ATM:

    U26455 AA016254 AA019493 AA149504 AA149636 AA174148 AA421745 AA632114 AA689605 AA758033 

    Unigene Cluster for ATM:

    Ataxia telangiectasia mutated
    Hs.367437  [show with all ESTs]
    Unigene Representative Sequence: NM_000051


    GeneLoc Exon Structure

    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000278616 ENST00000452508(uc001pkd.3 uc001pke.1) ENST00000389511(uc001pkf.2)
    ENST00000419286 ENST00000299392(uc001pkc.1 uc009yxs.1 uc010rvw.1 uc009yxt.1 uc001pkg.1 uc001pkb.1 uc009yxr.1)


    Expression
    for ATM gene

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    ATM expression in normal and diseased human tissues

    1  / 2  / 3

    13 probe-sets matching ATM gene

    Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    2001_g_at2, 3 U95-A 2 0.94 0.83 0.58 0.77 U26455 1.00 0.80 0.91 1
    2000_at2, 3 U95-A 1 0.88 1.00 0.69 1.27 U26455 1.00 0.80 0.91 1
    91853_at2, 3 U95-D 2 0.62 0.95 0.71 1.15 AI275446 0.60 0.83 0.73 1
    1863_s_at2, 3 U95-A 1 0.44 1.00 0.89 1.39 U67092 0.20 1.00 0.72 1
    1862_at2, 3 U95-A 1 0.44 1.00 0.41 0.54 U67092 0.20 1.00 0.72 1
    208442_s_at2, 3 U133-A 2 0.91 0.75 -- -- NM_000051 0.60 0.83 0.73 1
    210858_x_at2, 3 U133-A 3 0.82 0.89 -- -- U26455 1.00 0.80 0.91 1
    212672_at2 U133-A 1 0.46 1.00 -- -- -- -- -- -- --
    208442_s_at2 U133Plus2 2 0.91 0.75 -- -- -- -- -- -- --
    210858_x_at2 U133Plus2 3 0.82 0.89 -- -- -- -- -- -- --
    212672_at2 U133Plus2 1 0.46 1.00 -- -- -- -- -- -- --
    1554631_at2 U133Plus2 1 0.27 1.00 -- -- -- -- -- -- --
    1553387_at*2 U133Plus2 NULL 0.00 0.00 -- -- -- -- -- -- --
    About this table

    ATM for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    ATM gene expression
    ATM gene electronic northern expression
    ATM gene sage expression
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.367437

    Expression variation in blood from EXPOLDB for ATM

    UniProtKB/Swiss-Prot: ATM_HUMAN, Q13315
    Tissue specificity: Found in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain, heart, spleen, thymus,
    testis, ovary, small intestine, colon and leukocytes

    Primers: OriGene genome-wide validated SYBR primer pairs: ATM
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for ATM: PPH00325A
        SABiosciences Expression via Pathway-Focused PCR Arrays including ATM (see all 10): PAHS-003A PAHS-004A  


    Orthologs
    for ATM gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for ATM gene from 5/14 species (see all 14)
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 ATM1   -- ataxia telangiectasia mutated 89.05(n)
    89.4(a)    		 479450  XM_857653.1  XP_862746.1 
    chimpanzee
    (Pan troglodytes)    		 ATM1   -- ataxia telangiectasia mutated 99.6(n)
    99.44(a)    		 451530  XM_001139322.1  XP_001139322.1 
    cow
    (Bos taurus)    		 ATM1   -- ataxia telangiectasia mutated 90.74(n)
    89.88(a)    		 526824  XM_605200.3  XP_605200.3 
    rat
    (Rattus norvegicus)    		 Atm1   -- ataxia telangiectasia mutated homolog (human) 84.11(n)
    84.25(a)    		 300711  XM_236275.4  XP_236275.4 
    mouse
    (Mus musculus)    		 Atm1 , 5 9 (29.12 cM)5
    		 ataxia telangiectasia mutated homolog (human)1, 5 85(n)1
    84.31(a)1    		 119201  NM_007499.11  NP_031525.11 
     AC0798695  AI2566215  (see all 16)
    About this table        Species with no ortholog for ATM

    ENSEMBL Gene Tree for ATM (if available)

    Paralogs
    for ATM gene

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    		  --

    Genomic Variants
    for ATM gene

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/1472 NCBI SNPs in ATM are shown (see all 1472)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 11 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ----------
    rs45851,2
    		C,F,A,108239628(+) GGACAG/TCGTAA 2 -- ut31 ese324Minor allele frequency- T:0.49EA NA MN NS WA 1600
    rs1705451,2
    		--108231471(-) gggttG/Tttgaa 1 -- int10--------
    rs1705481,2
    		C,F,108234836(-) AAATCT/GCTCTA 1 -- int114Minor allele frequency- G:0.33EA NA MN NS 2388
    rs1706161,2
    		--108108866(+) ccaggA/Ctggtc 1 -- int10--------
    rs1728961,2
    		C,F,A,H,108217049(+) ATACTT/GTTTAA 1 -- int111Minor allele frequency- G:0.43NA NS EA WA 528
    rs1729271,2
    		C,F,O,A,H,108124299(-) AGTTAC/TAATCT 1 -- int120Minor allele frequency- T:0.39NS NA EA WA 1178
    rs1791081,2
    		C,F,H,108224697(-) TTGAGC/TAGCTG 1 -- int112Minor allele frequency- T:0.03MN NA WA 422
    rs1844721,2
    		--108232475(-) tttctA/Ccatat 1 -- int10--------
    rs1865911,2
    		C,F,A,H,108200142(+) tttgtT/Gttttt 1 -- int1 trp33Minor allele frequency- G:0.49NA 78
    rs1890381,2
    		--108108778(+) cctccC/Tgagta 1 -- int10--------
    About this table

    HapMap Linkage Disequilibrium images for ATM (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ATM: --

    QIAGEN SeqTarget long-range PCR primers for resequencing ATM 

    Disorders & Mutations
    for ATM gene

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ATM for disorders           About GeneDecksing

    OMIM: 607585

    UniProtKB/Swiss-Prot: ATM_HUMAN, Q13315

  • Defects in ATM are the cause of ataxia telangiectasia (AT) [MIM:208900]; also known as Louis-Bar syndrome,
    • which includes four complementation groups: A, C, D and E. This rare recessive disorder is characterized by
    progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth
    retardation and sexual immaturity. AT patients have a strong predisposition to cancer; about 30% of patients develop
    tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by
    ionizing radiation and resistant to inhibition of DNA synthesis following irradiation
  • Note=Defects in ATM contribute to T-cell acute lymphoblastic leukemia (TALL) and T-prolymphocytic leukemia
    • (TPLL). TPLL is characterized by a high white blood cell count, with a predominance of prolymphocytes, marked
    splenomegaly, lymphadenopathy, skin lesions and serous effusion. The clinical course is highly aggressive, with poor
    response to chemotherapy and short survival time. TPLL occurs both in adults as a sporadic disease and in younger AT
    patients
  • Note=Defects in ATM contribute to B-cell non-Hodgkin lymphomas (BNHL), including mantle cell lymphoma (MCL)
  • Note=Defects in ATM contribute to B-cell chronic lymphocytic leukemia (BCLL). BCLL is the commonest form of
    • leukemia in the elderly. It is characterized by the accumulation of mature CD5+ B lymphocytes, lymphadenopathy,
    immunodeficiency and bone marrow failure

    10/89 Novoseek disease relationships for ATM gene (see all 89)

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ataxia telangiectasia 98.2 473 9622061 (3), 16799570 (3), 7545545 (2), 8843194 (2) (see all 99)
    nijmegen breakage syndrome 87.5 20 15024084 (1), 17507690 (1), 18215521 (1), 18723444 (1) (see all 17)
    cerebellar degeneration 77.4 4 9054948 (1), 9770541 (1), 8968760 (1), 11443540 (1)
    telangiectasia 70.7 13 12882767 (4), 18502988 (2), 19799357 (1), 12513844 (1) (see all 8)
    genetic disorder 69.8 40 10549596 (2), 7545545 (1), 9535798 (1), 10567403 (1) (see all 39)
    lymphocytic leukemia chronic b-cell 65.4 16 11468183 (2), 9892178 (1), 9788599 (1), 10738255 (1) (see all 14)
    cancer 63.5 122 12513844 (4), 18565893 (4), 12195425 (3), 15390180 (3) (see all 83)
    leukemia prolymphocytic 62.7 8 9573030 (2), 10738255 (1), 12149228 (1), 18073348 (1) (see all 7)
    bilateral breast cancer 60.9 10 19153073 (3), 12673797 (1), 14562025 (1), 15756685 (1) (see all 5)
    fanconis anemia 59.3 1 11733219 (1)
    About this table

    1 PharmGKB disease relationship for ATM gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Leukemia, Lymphocytic, Acute, L1FA  GN  12086872
    About this table

    GeneTests: ATM
    Ataxia-Telangiectasia

    Locus Specific Mutation Databases (LSDB): ATM
    Human Gene Mutation Database (HGMD): ATM
    Genetic Association Database (GAD): ATM
    Human Genome Epidemiology (HuGE) Navigator: ATM (155 documents)
    Tumor Gene Database (TGDB): ATM

    Export disorders and mutations for ATM gene to outside databases

    Medical News
    for ATM gene

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    Publications
    for ATM gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/1178 PubMed articles for ATM gene, integrated from 7 sources (see all 1178):
    (articles sorted by number of sources associating them with ATM)
    1. Mutations associated with variant phenotypes in ataxia- telangiectasia. (PubMed id 8755918)1, 2, 4 McConville C.M.... Taylor A.M.R. (1996)
    2. ATM mutations in female breast cancer patients predict for an increase in radiation-induced late effects. (PubMed id 11849780)1, 4, 7 Iannuzzi C.M....Rosenstein B.S. (2002)
    3. Inactivation of the ATM gene in T-cell prolymphocytic leukemias. (PubMed id 9573030)1, 2, 7 Stoppa-Lyonnet D.... Stern M.-H. (1998)
    4. Ataxia-telangiectasia locus: sequence analysis of 184 kb of human genomic DNA containing the entire ATM gene. (PubMed id 9199932)1, 2, 7 Platzer M.... Rosenthal A. (1997)
    5. The product of the ATM gene is a 370-kDa nuclear phosphoprotein. (PubMed id 8969240)1, 2, 7 Chen G. and Lee E.Y.-H.P. (1996)
    6. DNA damage-induced acetylation of lysine 3016 of ATM activates ATM kinase activity. (PubMed id 17923702)1, 2, 7 Sun Y....Price B.D. (2007)
    7. Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. (PubMed id 10873394)1, 2, 7 Becker-Catania S.G.... Gatti R.A. (2000)
    8. Mantle cell lymphoma is characterized by inactivation of the ATM gene. (PubMed id 10706620)1, 2, 7 Schaffner C.... Lichter P. (2000)
    9. Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia. (PubMed id 10397742)1, 2, 7 Schaffner C.... Lichter P. (1999)
    10. Genotype-phenotype relationships in ataxia-telangiectasia and variants. (PubMed id 9497252)1, 2, 7 Gilad S.... Bar-Shira A. (1998)

    External Searches for ATM gene

    (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)

    Genome Databases showing ATM gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 472 HGNC: 795 AceView: ATM Ensembl:ENSG00000149311 euGenes: HUgn472
    ECgene: ATM Kegg: 472 H-InvDB: ATM

    Other Databases showing ATM gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ATM gene

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    ATLAS Chromosomes in Cancer entry for ATM Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATM
    NIEHS-SNPshttp://egp.gs.washington.edu/data/atm/
    Wikipedia http://en.wikipedia.org/wiki/Ataxia_telangiectasia_mutated

    Intellectual Property
    for ATM gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    		Patent Information for ATM gene:
    Search GeneIP for patents involving ATM

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



    Products
    for ATM gene

    (Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
    Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or Enzo Life Sciences)
    About This Section

     Millipore Custom Antibody & Bulk Services
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     ELISAs and CLIAs for ATM
           

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