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    ATM ataxia telangiectasia mutated [ Homo sapiens (human) ]

    Gene ID: 472, updated on 14-May-2013
    Official Symbol
    ATMprovided by HGNC
    Official Full Name
    ataxia telangiectasia mutatedprovided by HGNC
    Primary source
    HGNC:795
    See related
    Ensembl:ENSG00000149311; HPRD:06347; MIM:607585; Vega:OTTHUMG00000166480
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AT1; ATA; ATC; ATD; ATE; ATDC; TEL1; TELO1
    Summary
    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, Aug 2010]
    Location :
    11q22-q23
    Sequence :
    Chromosome: 11; NC_000011.9 (108093559..108239826)

    Chromosome 11 - NC_000011.9Genomic Context describing neighboring genes Neighboring gene acetyl-CoA acetyltransferase 1 Neighboring gene nuclear protein, ataxia-telangiectasia locus Neighboring gene chromosome 11 open reading frame 65 Neighboring gene KDEL (Lys-Asp-Glu-Leu) containing 2

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Ataxia-telangiectasia syndrome

    Summary from GeneReviews: Ataxia-Telangiectasia Go to GeneReviews

    Disease Characteristics
    Classic ataxia-telangiectasia (A-T) is characterized by progressive cerebellar ataxia beginning between ages one and four years, oculomotor apraxia, choreoathetosis, telangiectasias of the conjunctivae, immunodeficiency, frequent infections, and an increased risk for malignancy, particularly leukemia and lymphoma. Individuals with A-T are unusually sensitive to ionizing radiation. Non-classic forms of A-T have included adult-onset A-T and A-T with early-onset dystonia.
    Diagnosis Testing
    Diagnosis of A-T relies on clinical findings, including slurred speech, truncal ataxia, and oculomotor apraxia; neuroimaging; and family history. Laboratory findings that support the diagnosis include: severely depleted levels of intracellular ATM protein, elevated serum alpha-fetoprotein concentration; 7;14 chromosome translocation on chromosome analysis of peripheral blood; immunodeficiency; and radiosensitivity demonstrated by in vitro assay. Molecular genetic testing of ATM, the only gene known to be associated with A-T, is available on a clinical basis.
    Genetic Counseling
    A-T is inherited in an autosomal recessive manner. At conception, the sibs of an affected individual have a 25% chance of being affected, a 50% chance of being asymptomatic carriers, and a 25% chance of being unaffected and not carriers. ATM heterozygotes (carriers) may have an increased risk of developing cancer. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the disease-causing mutations in the family are known.
    References

    Familial cancer of breast

    Summary from GeneReviews: BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer Go to GeneReviews

    Disease Characteristics
    A germline mutation in BRCA1 or BRCA2 predisposes to breast and ovarian cancer as well as other cancers. The risk of developing cancer that is associated with a germline BRCA1 or BRCA2 mutation, which has been derived from families with multiple affected individuals, families with few affected individuals, and from population-based studies, appears to be variable within families. Prognosis for breast and ovarian cancer depends on the stage at which the cancer is diagnosed; however, studies on survival have revealed conflicting results for individuals with germline BRCA1 or BRCA2 mutations when compared to controls.
    Diagnosis Testing
    Molecular genetic testing for germline BRCA1 and BRCA2 mutations is available on a clinical basis for individuals who are identified to be at high risk based on their personal and/or family history and for at-risk relatives of an individual with an identified germline BRCA1 or BRCA2 mutation. No currently available technique can guarantee the identification of all cancer-predisposing mutations in BRCA1 or BRCA2. Furthermore, mutations of uncertain clinical significance may be identified.
    Genetic Counseling
    Germline mutations in BRCA1 and BRCA2 are inherited in an autosomal dominant manner. Each offspring of an individual with a BRCA1 or BRCA2 germline mutation has a 50% chance of inheriting the mutation. Molecular genetic testing of asymptomatic family members at risk of inheriting either a BRCA1 or BRCA2 germline mutation is feasible once the family-specific mutation has been identified. Prenatal testing is possible for pregnancies at increased risk if the cancer-predisposing mutation in the family is known; however, requests for prenatal diagnosis of adult-onset diseases are uncommon and require careful genetic counseling.
    References
    Protein Gene Interaction Pubs
    Env, gp160, envelope glycoprotein env PML, TopBP1, NBS1 or ATM-induced activation of phosphorylation of Chk2 participates in the DNA damage-elicited pro-apoptotic cascade that leads to the demise of Env-elicited syncytia PubMed
    env Interactions between tumor suppressor protein PML, TopBP1 and ATM exhibit in HIV-1 Env-elicited syncytia PubMed
    env Tumor suppressor protein PML is required for the activating phosphorylation of ATM, p38 MAPK, and p53 in HIV-1 Env-elicited syncytia PubMed
    Rev, p19 rev Ataxia-telangiectasia-mutated (ATM) kinase enhances HIV-1 replication by stimulating the action of the HIV-1 Rev viral posttranscriptional regulator PubMed
    Tat, p14 tat HIV-1 Tat upregulates ATM expression in Tat-infected Jurkat T cells PubMed
    Vif, p23 vif A3G upregulates NKG2D ligands through an ATM pathway and in which HIV-1 Vif counteracts this upregulation by decreasing A3G expression PubMed
    Vpr, p15 vpr HIV-1 Vpr activates ATM, a DNA double-strand break kinase that is required for cell response to DNA damage and for genome stability PubMed
    pol gag-pol ATM is proposed to play a role in the prevention of HIV-1 Integrase mediated cell killing PubMed

    Go to the HIV-1, Human Protein Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description
    NP_000042.2 NP_000042.2 ATM    BIND  PubMed ATM interacts with itself to form a dimer. 
    NP_000042.2 NP_009125.1 CHEK2    BIND  PubMed ATM phosphorylates Chk2 at threonine 68. 
    NP_000042.2 NP_009125.1 CHEK2    BIND  PubMed ATM phosphorylates Chk2 at threonine 68. 
    NP_000042.2 NP_004271.1 EEF1E1    BIND  PubMed p18 interacts with ATM. 
    NP_000042.2 NP_002096.1 H2AFX    BIND  PubMed ATM phosphorylates the carboxy terminus of H2AX. 
    NP_000042.2 MRE11A    BIND  PubMed ATM interacts with MRE11A (Mre11). 
    NP_000042.2 NP_002476.2 NBN    BIND  PubMed NBS1 interacts with ATM. 
    NP_000042.2 NP_005605.1 RHEB    BIND  PubMed ATM interacts with Rheb. 
    NP_000042.2 NP_000537.2 TP53    BIND  PubMed ATM phosphorylates p53 at serine 15. 
    NP_000042.2 NP_000537.2 TP53    BIND  PubMed ATM phosphorylates p53 at Ser15. 
    NP_000042.2 NP_000537.2 TP53    BIND  PubMed ATM phosphorylates p53 at serine 15. 
    NP_000042.2 NP_002902.2 UPF1    BIND  PubMed ATM phosphorylates hUpf1. 
    NP_000042.2 NP_066964.1 XRCC5    BIND  PubMed XRCC5 (Ku80) interacts with ATM. 
    NP_000042.2     BIND  PubMed ATM interacts with MRN complex. 
    NP_000042.2     BIND  PubMed ATM interacts with MRN complex. 
    Q13315 Q9NY61 AATF    HPRD  PubMed  
    Q13315 P00519 ABL1    HPRD  PubMed  
    Q13315 Q10567 AP1B1    HPRD  PubMed  
    Q13315 P63010 AP2B1    HPRD  PubMed  
    Q13315 Q13367 AP3B2    HPRD  PubMed  
    Q13315 Q13315 ATM    HPRD  PubMed  
    Q13315 Q8WXE1 ATRIP    HPRD  PubMed  
    Q13315 O14757 CHEK1    HPRD  PubMed  
    Q13315 O96017 CHEK2    HPRD  PubMed  
    Q13315 O96017 CHEK2    HPRD  PubMed  
    Q13315 P16220 CREB1    HPRD  PubMed  
    Q13315 Q96SD1 DCLRE1C    HPRD  PubMed  
    Q13315 Q01094 E2F1    HPRD  PubMed  
    Q13315 O43324 EEF1E1    HPRD  PubMed  
    Q13315 Q13541 EIF4EBP1    HPRD  PubMed  
    Q13315 Q9BXW9 FANCD2    HPRD  PubMed  
    Q13315 P16104 H2AFX    HPRD  PubMed  
    Q13315 Q92993 KAT5    HPRD  PubMed  
    Q13315 Q14676 MDC1    HPRD  PubMed  
    Q13315 Q00987 MDM2    HPRD  PubMed  
    Q13315 O15151 MDM4    HPRD  PubMed  
    Q13315 P49959 MRE11A    HPRD  PubMed  
    Q13315 O60934 NBN    HPRD  PubMed  
    Q13315 P50542 PEX5    HPRD  PubMed  
    Q13315 P78527 PRKDC    HPRD  PubMed  
    Q13315 O75943 RAD17    HPRD  PubMed  
    Q13315 Q06609 RAD51    HPRD  PubMed  
    Q13315 Q99638 RAD9A    HPRD  PubMed  
    Q13315 Q99708 RBBP8    HPRD  PubMed  
    Q13315 Q15382 RHEB    HPRD  PubMed  
    Q13315 Q14683 SMC1A    HPRD  PubMed  
    Q13315 Q15831 STK11    HPRD  PubMed  
    Q13315 P54274 TERF1    HPRD  PubMed  
    Q13315 Q7Z3E1 TIPARP    HPRD  PubMed  
    Q13315 Q92547 TOPBP1    HPRD  PubMed  
    Q13315 P04637 TP53    HPRD  PubMed  
    Q13315 Q12888 TP53BP1    HPRD  PubMed  
    Q13315 Q14191 WRN    HPRD  PubMed  
    Q13315 P23025 XPA    HPRD  PubMed  
    Q13315 P13010 XRCC5    HPRD  PubMed  
    BioGRID:106962 BioGRID:106543 ABL1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex; Two-hybrid 
    BioGRID:106962 BioGRID:106715 ALB    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106962 BioGRID:106671 AP1B1    BioGRID  PubMed Protein-peptide 
    BioGRID:106962 BioGRID:106670 AP2A2    BioGRID  PubMed Protein-peptide 
    NP_001871.2 ATF2    BIND  PubMed An unspecified isoform of ATM interacts with and phosphorylates ATF2. 
    BioGRID:106962 BioGRID:107776 ATF2    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:106962 BioGRID:106962 ATM    BioGRID  PubMed Affinity Capture-MS; Biochemical Activity; Co-purification; Protein-peptide 
    BioGRID:106962 BioGRID:107027 ATR    BioGRID  PubMed Biochemical Activity; Protein-peptide 
    BioGRID:106962 BioGRID:313463 ATRIP    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:106962 BioGRID:198122 Ap1b1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:106962 BioGRID:198133 Ap3b2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106962 BioGRID:198236 Atm    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106962 BioGRID:107110 BLM    BioGRID  PubMed Affinity Capture-Western; Co-purification; Reconstituted Complex 
    BioGRID:106962 BioGRID:107116 BMI1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106962 BioGRID:128767 BRAT1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106962 BioGRID:107140 BRCA1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Co-purification; Protein-peptide; Reconstituted Complex 
    BioGRID:106962 BioGRID:107142 BRCA2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106962 BioGRID:198349 Bid    BioGRID  PubMed Biochemical Activity 
    BioGRID:106962 BioGRID:107426 CDC6    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106962 BioGRID:107465 CDKN2C    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:106962 BioGRID:107533 CHD4    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:106962 BioGRID:107536 CHEK1    BioGRID  PubMed Biochemical Activity; Protein-peptide 
    BioGRID:106962 BioGRID:116369 CHEK2    BioGRID  PubMed Biochemical Activity; Reconstituted Complex 
    BioGRID:106962 BioGRID:107775 CREB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106962 BioGRID:107837 CSNK1D    BioGRID  PubMed Biochemical Activity 
    BioGRID:106962 BioGRID:119586 CXXC5    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106962 BioGRID:198694 Chek1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106962 BioGRID:107985 DAXX    BioGRID  PubMed Biochemical Activity 
    BioGRID:106962 BioGRID:115263 DCLRE1A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106962 BioGRID:122170 DCLRE1C    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:106962 BioGRID:108019 DDX1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:106962 BioGRID:114023 DYRK2    BioGRID  PubMed Biochemical Activity 
    BioGRID:106962 BioGRID:108201 E2F1    BioGRID  PubMed Biochemical Activity 
    BioGRID:106962 BioGRID:108209 E4F1    BioGRID  PubMed Protein-peptide 
    BioGRID:106962 BioGRID:109857 EIF3E    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:106962 BioGRID:108293 EIF4EBP1    BioGRID  PubMed Biochemical Activity; Protein-peptide 
    BioGRID:106962 BioGRID:108309 ELAVL1    BioGRID  PubMed Affinity Capture-RNA 
    BioGRID:106962 BioGRID:114602 EXO1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:106962 BioGRID:108474 FANCD2    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex; Two-hybrid 
    BioGRID:106962 BioGRID:120511 FANCI    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106962 BioGRID:108598 FOXO3    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:106962 BioGRID:109268 H2AFX    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:106962 BioGRID:200313 H2afx    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106962 BioGRID:109315 HDAC1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:106962 BioGRID:116281 HNRNPUL1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106962 BioGRID:115385 HUWE1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106962 BioGRID:114089 IKBKG    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:106962 BioGRID:115779 KAT5    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106962 BioGRID:123914 KAT8    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:106962 BioGRID:110169 LIG4    BioGRID  PubMed Protein-peptide 
    BioGRID:106962 BioGRID:112748 MAP3K7    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106962 BioGRID:107819 MAPK14    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106962 BioGRID:110339 MCM2    BioGRID  PubMed Biochemical Activity 
    BioGRID:106962 BioGRID:122776 MCPH1    BioGRID  PubMed Co-localization 
    BioGRID:106962 BioGRID:115014 MDC1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:106962 BioGRID:110358 MDM2    BioGRID  PubMed Biochemical Activity 
    BioGRID:106962 BioGRID:111465 MED1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106962 BioGRID:110438 MLH1    BioGRID  PubMed Co-purification 
    BioGRID:106962 BioGRID:110501 MRE11A    BioGRID  PubMed Affinity Capture-Western; Co-purification; Protein-peptide 
    BioGRID:106962 BioGRID:110573 MSH2    BioGRID  PubMed Co-purification 
    BioGRID:106962 BioGRID:109211 MSH6    BioGRID  PubMed Co-purification 
    BioGRID:106962 BioGRID:201345 Mcm3    BioGRID  PubMed Biochemical Activity 
    BioGRID:106962 BioGRID:110763 NBN    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Co-localization; Co-purification; Protein-peptide; Reconstituted Complex 
    BioGRID:106962 BioGRID:106652 PARP1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106962 BioGRID:114386 PER3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106962 BioGRID:111788 PEX5    BioGRID  PubMed Two-hybrid 
    BioGRID:106962 BioGRID:111493 PPP1CA    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106962 BioGRID:111495 PPP1CC    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106962 BioGRID:111516 PPP2R4    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106962 BioGRID:111577 PRKDC    BioGRID  PubMed Affinity Capture-Western; Protein-peptide 
    BioGRID:106962 BioGRID:111769 PTS    BioGRID  PubMed Protein-peptide 
    BioGRID:106962 BioGRID:218917 Polq    BioGRID  PubMed Phenotypic Enhancement 
    BioGRID:106962 BioGRID:111821 RAD17    BioGRID  PubMed Affinity Capture-Western; Protein-peptide 
    BioGRID:106962 BioGRID:115417 RAD50    BioGRID  PubMed Co-purification 
    BioGRID:106962 BioGRID:111825 RAD51    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106962 BioGRID:111867 RBBP8    BioGRID  PubMed Affinity Capture-Western; Protein-peptide; Reconstituted Complex 
    BioGRID:106962 BioGRID:111913 RFC1    BioGRID  PubMed Co-purification 
    BioGRID:106962 BioGRID:111941 RHEB    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:106962 BioGRID:121119 RNF20    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Co-fractionation 
    BioGRID:106962 BioGRID:115149 RNF40    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Co-fractionation 
    BioGRID:106962 BioGRID:112037 RPA1    BioGRID  PubMed Biochemical Activity 
    BioGRID:106962 BioGRID:112038 RPA2    BioGRID  PubMed Biochemical Activity 
    BioGRID:106962 BioGRID:119071 RRM2B    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106962 BioGRID:119602 SIRT7    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106962 BioGRID:112393 SKP2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106962 BioGRID:110267 SMAD7    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106962 BioGRID:112482 SMARCB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106962 BioGRID:113871 SMC1A    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:106962 BioGRID:114574 SMC3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106962 BioGRID:114203 SOCS1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:106962 BioGRID:123158 SPSB1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:106962 BioGRID:112598 SREBF1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106962 BioGRID:119490 TAOK3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106962 BioGRID:113783 TCL1A    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:106962 BioGRID:120890 TDP1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106962 BioGRID:115223 TELO2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:106962 BioGRID:112872 TERF1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:106962 BioGRID:112873 TERF2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:106962 BioGRID:113003 TOP1    BioGRID  PubMed Protein-peptide 
    BioGRID:106962 BioGRID:116256 TOPBP1    BioGRID  PubMed Affinity Capture-Western 
    NP_000537.2 TP53    BIND  PubMed An unspecified isoform of ATM interacts with and phosphorylates p53. This interaction was modeled on a demonstrated interaction between human ATM and p53 from an unspecified species. 
    BioGRID:106962 BioGRID:113010 TP53    BioGRID  PubMed Biochemical Activity; Phenotypic Enhancement; Protein-peptide; Reconstituted Complex 
    BioGRID:106962 BioGRID:113011 TP53BP1    BioGRID  PubMed Biochemical Activity; Reconstituted Complex 
    BioGRID:106962 BioGRID:113041 TRAF6    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106962 BioGRID:115030 TTI1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106962 BioGRID:204115 Terc    BioGRID  PubMed Phenotypic Enhancement 
    BioGRID:106962 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Reconstituted Complex 
    BioGRID:106962 BioGRID:115085 USP34    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106962 BioGRID:113269 VHL    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106962 BioGRID:115079 VPRBP    BioGRID  PubMed Biochemical Activity 
    BioGRID:106962 BioGRID:113323 WRN    BioGRID  PubMed Protein-peptide 
    BioGRID:106962 BioGRID:113344 XPA    BioGRID  PubMed Biochemical Activity 
    BioGRID:106962 BioGRID:113345 XPC    BioGRID  PubMed Co-localization 
    BioGRID:106962 BioGRID:113353 XRCC5    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106962 BioGRID:32428 XRS2    BioGRID  PubMed Reconstituted Complex 
    • ATM mediated phosphorylation of repair proteins, organism-specific biosystem (from REACTOME)
      ATM mediated phosphorylation of repair proteins, organism-specific biosystemFollowing the detection of DSBs, ATM mediates the phosphorylation of proteins involved in DNA repair (Thompson and Schild, 2002).
    • ATM mediated response to DNA double-strand break, organism-specific biosystem (from REACTOME)
      ATM mediated response to DNA double-strand break, organism-specific biosystemDetection of DNA double-strand breaks involves sensor proteins that become activated setting off of signaling cascades. This signaling leads to the recruitment of repair proteins and subsequent repai...
    • Apoptosis, organism-specific biosystem (from KEGG)
      Apoptosis, organism-specific biosystemApoptosis is a genetically controlled mechanisms of cell death involved in the regulation of tissue homeostasis. The 2 major pathways of apoptosis are the extrinsic (Fas and other TNFR superfamily me...
    • Apoptosis, conserved biosystem (from KEGG)
      Apoptosis, conserved biosystemApoptosis is a genetically controlled mechanisms of cell death involved in the regulation of tissue homeostasis. The 2 major pathways of apoptosis are the extrinsic (Fas and other TNFR superfamily me...
    • Autodegradation of the E3 ubiquitin ligase COP1, organism-specific biosystem (from REACTOME)
      Autodegradation of the E3 ubiquitin ligase COP1, organism-specific biosystemCOP1 is one of several E3 ubiquitin ligases responsible for the tight regulation of p53 abundance. Following DNA damage, COP1 dissociates from p53 and is inactivated by autodegradation via a path...
    • BARD1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
      BARD1 signaling events, organism-specific biosystem
      BARD1 signaling events
    • BRCA1-associated genome surveillance complex (BASC), organism-specific biosystem (from KEGG)
      BRCA1-associated genome surveillance complex (BASC), organism-specific biosystemStructural complex; Genetic information processing; Repair system
    • Canonical NF-kappaB pathway, organism-specific biosystem (from Pathway Interaction Database)
      Canonical NF-kappaB pathway, organism-specific biosystem
      Canonical NF-kappaB pathway
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle Checkpoints, organism-specific biosystem (from REACTOME)
      Cell Cycle Checkpoints, organism-specific biosystemA hallmark of the human cell cycle in normal somatic cells is its precision. This remarkable fidelity is achieved by a number of signal transduction pathways, known as checkpoints, which monitor cell...
    • Cell cycle, organism-specific biosystem (from WikiPathways)
      Cell cycle, organism-specific biosystemThe cell cycle is the series of events that takes place in a cell leading to its division and duplication (replication). Regulation of the cell cycle involves processes crucial to the survival of a c...
    • Cell cycle, organism-specific biosystem (from KEGG)
      Cell cycle, organism-specific biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
    • Cell cycle, conserved biosystem (from KEGG)
      Cell cycle, conserved biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. These cellular mechanisms that must cope with the plethora of DNA base pair ad...
    • DNA damage response, organism-specific biosystem (from WikiPathways)
      DNA damage response, organism-specific biosystemThis is the first pathway out of two pathways which deals with DNA damage response. It has two central gene products (ATM and ATR) which are connected to the sources of DNA damage (in blue). The two ...
    • DNA damage response (only ATM dependent), organism-specific biosystem (from WikiPathways)
      DNA damage response (only ATM dependent), organism-specific biosystemThis is the second pathway out of two pathways which deals with DNA damage response. It has two central gene products (ATM and TP53) which are connected with the first DNA damage response pathway. In...
    • Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
      Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
    • E2F transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      E2F transcription factor network, organism-specific biosystem
      E2F transcription factor network
    • Fanconi Anemia pathway, organism-specific biosystem (from REACTOME)
      Fanconi Anemia pathway, organism-specific biosystemFanconi anemia (FA) is a genetic disease of genome instability characterized by congenital skeletal defects, aplastic anemia, susceptibility to leukemias, and cellular sensitivity to DNA damaging age...
    • G1 to S cell cycle control, organism-specific biosystem (from WikiPathways)
      G1 to S cell cycle control, organism-specific biosystemIn the G1 phase there are two types of DNA damage responses, the p53-dependent and the p53-independent pathways. The p53-dependent responses inhibit CDKs through the up-regulation of genes encoding C...
    • G1/S DNA Damage Checkpoints, organism-specific biosystem (from REACTOME)
      G1/S DNA Damage Checkpoints, organism-specific biosystemIn the G1 phase there are two types of DNA damage responses, the p53-dependent and the p53-independent pathways. The p53-dependent responses inhibit CDKs through the up-regulation of genes encoding ...
    • G2/M Checkpoints, organism-specific biosystem (from REACTOME)
      G2/M Checkpoints, organism-specific biosystemG2/M checkpoints include the checks for damaged DNA, unreplicated DNA, and checks that ensure that the genome is replicated once and only once per cell cycle. If cells pass these checkpoints, they f...
    • G2/M DNA damage checkpoint, organism-specific biosystem (from REACTOME)
      G2/M DNA damage checkpoint, organism-specific biosystemThroughout the cell cycle, the genome is constantly monitored for damage, resulting either from errors of replication, by-products of metabolism or through extrinsic sources such as ultra-violet or i...
    • HTLV-I infection, organism-specific biosystem (from KEGG)
      HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • HTLV-I infection, conserved biosystem (from KEGG)
      HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • Homologous Recombination Repair, organism-specific biosystem (from REACTOME)
      Homologous Recombination Repair, organism-specific biosystemThe HRR pathway is an "error free" DNA repair mechanism that utilizes information encoded by homologous sequence to repair double-strand breaks (DSBs). HRR acts on DSBs occurring within replicated DN...
    • Homologous recombination, organism-specific biosystem (from WikiPathways)
      Homologous recombination, organism-specific biosystemHomologous recombination, also known as general recombination, is a type of genetic recombination in which nucleotide sequences are exchanged between two similar or identical strands of DNA. Source:...
    • Homologous recombination repair of replication-independent double-strand breaks, organism-specific biosystem (from REACTOME)
      Homologous recombination repair of replication-independent double-strand breaks, organism-specific biosystemHomologous recombination repair of replication-independent double-strand breaks requires the activation of ATM followed by ATM mediated phosphorylation of DNA repair proteins. DNA repair and signalin...
    • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
    • Integrated Cancer pathway, organism-specific biosystem (from WikiPathways)
      Integrated Cancer pathway, organism-specific biosystem
      Integrated Cancer pathway
    • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
    • Meiosis, organism-specific biosystem (from REACTOME)
      Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
    • Meiotic Recombination, organism-specific biosystem (from REACTOME)
      Meiotic Recombination, organism-specific biosystemMeiotic recombination exchanges segments of duplex DNA between chromosomal homologs, generating genetic diversity (reviewed in Handel and Schimenti 2010, Inagaki et al. 2010, Cohen et al. 2006). Ther...
    • NF-kappa B signaling pathway, organism-specific biosystem (from KEGG)
      NF-kappa B signaling pathway, organism-specific biosystemNuclear factor-kappa B (NF-kappa B) is the generic name of a family of transcription factors that function as dimers and regulate genes involved in immunity, inflammation and cell survival. There are...
    • Ovarian Infertility Genes, organism-specific biosystem (from WikiPathways)
      Ovarian Infertility Genes, organism-specific biosystemOvarian bottleneck genes associated with infertility. A valuable approach to the study of infertility is the comparison of mutations of individual human and mouse genes associated with infertility ph...
    • Prostate Cancer, organism-specific biosystem (from WikiPathways)
      Prostate Cancer, organism-specific biosystem
      Prostate Cancer
    • Recruitment of repair and signaling proteins to double-strand breaks, organism-specific biosystem (from REACTOME)
      Recruitment of repair and signaling proteins to double-strand breaks, organism-specific biosystemFollowing exposure to ionizing radiation, a number of recombination/repair proteins and complexes relocalize to nuclear foci that are believed to correspond to the sites of double-strand breaks. Thes...
    • Regulation of Telomerase, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of Telomerase, organism-specific biosystem
      Regulation of Telomerase
    • Regulation of the Fanconi anemia pathway, organism-specific biosystem (from REACTOME)
      Regulation of the Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia DNA repair pathway is negatively regulated by the deubiquitination of FANCD2 an postively regulated by phosphorylation of the FANCD2 and FANCI. The USP1 deubiquitinating enzyme is...
    • Signaling Pathways in Glioblastoma, organism-specific biosystem (from WikiPathways)
      Signaling Pathways in Glioblastoma, organism-specific biosystemThe most frequently altered genes in glioblastoma. This pathway originally accompanied the 2008 Nature publication on the comprehensive genomic characterization of human glioblastoma genes and core p...
    • Stabilization of p53, organism-specific biosystem (from REACTOME)
      Stabilization of p53, organism-specific biosystemLater studies pin-pointed that a single serine (Ser-15) was phosphorylated by ATM and phosphorylation of Ser-15 was rapidly-induced in IR-treated cells and this response was ATM-dependent (Canman et ...
    • TP53 network, organism-specific biosystem (from WikiPathways)
      TP53 network, organism-specific biosystemP53 is not a lonely genome guardian, it operates with the assistance of p73 and p63 within a complex network including distinct but complementary pathways. This protein family presents a high le...
    • Transcriptional misregulation in cancer, organism-specific biosystem (from KEGG)
      Transcriptional misregulation in cancer, organism-specific biosystem
      Transcriptional misregulation in cancer
    • Transcriptional misregulation in cancer, conserved biosystem (from KEGG)
      Transcriptional misregulation in cancer, conserved biosystem
      Transcriptional misregulation in cancer
    • Ubiquitin Mediated Degradation of Phosphorylated Cdc25A, organism-specific biosystem (from REACTOME)
      Ubiquitin Mediated Degradation of Phosphorylated Cdc25A, organism-specific biosystemcdc25A protein is degraded by the ubiquitin-proteasome machinery in both terminally differentiating and cycling cells (Bernardi et al. 2000).
    • miRNAs involved in DDR, organism-specific biosystem (from WikiPathways)
      miRNAs involved in DDR, organism-specific biosystemMicroRNA clusters involved in de DNA damage response. Genes they regulated and genes that regulate them. All genes presented in this pathway can also be found in the pathway "DNA damage response(Homo...
    • p38 MAPK signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      p38 MAPK signaling pathway, organism-specific biosystem
      p38 MAPK signaling pathway
    • p53 pathway, organism-specific biosystem (from Pathway Interaction Database)
      p53 pathway, organism-specific biosystem
      p53 pathway
    • p53 signaling pathway, organism-specific biosystem (from KEGG)
      p53 signaling pathway, organism-specific biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...
    • p53 signaling pathway, conserved biosystem (from KEGG)
      p53 signaling pathway, conserved biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...
    • p53-Dependent G1 DNA Damage Response, organism-specific biosystem (from REACTOME)
      p53-Dependent G1 DNA Damage Response, organism-specific biosystemMost of the damage-induced modifications of p53 are dependent on the ATM kinase. The first link between ATM and p53 was predicted based on the earlier studies that showed that AT cells exhibit a redu...
    • p53-Dependent G1/S DNA damage checkpoint, organism-specific biosystem (from REACTOME)
      p53-Dependent G1/S DNA damage checkpoint, organism-specific biosystemThe arrest at G1/S checkpoint is mediated by the action of a widely known tumor suppressor protein, p53. Loss of p53 functions, as a result of mutations in cancer prevent the G1/S checkpoint (Kuerbi...
    • p53-Independent DNA Damage Response, organism-specific biosystem (from REACTOME)
      p53-Independent DNA Damage Response, organism-specific biosystemIn response to DNA damage due to exposure to ultraviolet light or to ionizing radiation, Cdc25A is phosphorylated by Chk1 or Chk2. The phosphorylation of Cdc25A at ser-123, in response to DNA damage...
    • p53-Independent G1/S DNA damage checkpoint, organism-specific biosystem (from REACTOME)
      p53-Independent G1/S DNA damage checkpoint, organism-specific biosystemThe G1 arrest induced by DNA damage has been ascribed to the transcription factor and tumor suppressor protein p53. To be effective within minutes after DNA damage, induction of the G1 block should ...

    Markers

    Homology

    Clone Names

    • MGC74674, DKFZp781A0353

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    1-phosphatidylinositol-3-kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA-dependent protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein N-terminus binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein dimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA damage induced protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest TAS
    Traceable Author Statement
    more info
     
    DNA repair TAS
    Traceable Author Statement
    more info
     
    G2 DNA damage checkpoint IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    brain development IEA
    Inferred from Electronic Annotation
    more info
     
    cell cycle arrest IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell cycle checkpoint TAS
    Traceable Author Statement
    more info
     
    cellular response to gamma radiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    double-strand break repair TAS
    Traceable Author Statement
    more info
     
    double-strand break repair via homologous recombination TAS
    Traceable Author Statement
    more info
     
    female gamete generation IEA
    Inferred from Electronic Annotation
    more info
     
    heart development IEA
    Inferred from Electronic Annotation
    more info
     
    histone mRNA catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intrinsic apoptotic signaling pathway in response to DNA damage IEA
    Inferred from Electronic Annotation
    more info
     
    lipoprotein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    mitotic spindle assembly checkpoint IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of B cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    peptidyl-serine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylinositol-3-phosphate biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of DNA damage response, signal transduction by p53 class mediator IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    pre-B cell allelic exclusion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    reciprocal meiotic recombination TAS
    Traceable Author Statement
    more info
    PubMed 
    replicative senescence IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to DNA damage stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    response to ionizing radiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    telomere maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    colocalizes_with chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic membrane-bounded vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    spindle IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    serine-protein kinase ATM
    Names
    serine-protein kinase ATM
    AT mutated
    A-T mutated
    TEL1, telomere maintenance 1, homolog
    NP_000042.3

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009830.1 RefSeqGene

      Range
      5001..151268
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_135

    mRNA and Protein(s)

    1. NM_000051.3NP_000042.3  serine-protein kinase ATM

      Status: REVIEWED

      Source sequence(s)
      AP001925, AP005718, U26455, U33841, X91196
      Consensus CDS
      CCDS31669.1
      UniProtKB/Swiss-Prot
      Q13315
      Related
      ENSP00000278616, ENST00000278616
      Conserved Domains (5) summary
      cd05171
      Location:26832962
      Blast Score: 1472
      PIKKc_ATM; Ataxia telangiectasia mutated (ATM), catalytic domain; The ATM catalytic domain subfamily is part of a larger superfamily that includes the catalytic domains of other kinases such as the typical serine/threonine/tyrosine protein kinases (PKs), ...
      smart00146
      Location:27152964
      Blast Score: 677
      PI3Kc; Phosphoinositide 3-kinase, catalytic domain
      pfam02259
      Location:20972489
      Blast Score: 476
      FAT; FAT domain
      pfam02260
      Location:30263055
      Blast Score: 130
      FATC; FATC domain
      pfam11640
      Location:7165
      Blast Score: 302
      TAN; Telomere-length maintenance and DNA damage repair

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000011.9 Reference GRCh37.p10 Primary Assembly

      Range
      108093559..108239826
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000143.1 Alternate HuRef

      Range
      104019183..104165444
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018922.1 Alternate CHM1_1.0

      Range
      107957748..108103987
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_138292.3: Suppressed sequence

      Description
      NM_138292.3: This RefSeq was permanently suppressed because the CDS was partial, and the transcript retained intronic sequence at its 5' end.
    2. NM_138293.1: Suppressed sequence

      Description
      NM_138293.1: This RefSeq was permanently suppressed because it represents a partial, incompletely processed transcript.

      Supplemental Content

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