| URN | urn:agi-llid:472 |
|---|---|
| Total Entities | 0 |
| Connectivity | 1299 |
| Name | Atm |
| Description | ataxia telangiectasia mutated |
| Notes | 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] |
| Ariadne Ontology | ATM-ATR |
|---|---|
| Secreted proteins | |
| Biofluids assayable substances |
| GO Molecular Function | protein complex binding |
|---|---|
| protein N-terminus binding | |
| nucleotide binding | |
| ATP binding | |
| DNA binding | |
| transferase activity | |
| transferase activity, transferring phosphorus-containing groups | |
| phosphotransferase activity, alcohol group as acceptor | |
| kinase activity | |
| protein kinase activity | |
| 1-phosphatidylinositol-3-kinase activity | |
| protein serine-threonine kinase activity | |
| histone serine kinase activity | |
| DNA-dependent protein kinase activity |
| GO Cellular Component | nucleoplasm |
|---|---|
| chromosome, telomeric region | |
| spindle | |
| cytoplasm | |
| cytoplasmic vesicle | |
| cytoplasmic membrane-bounded vesicle | |
| nucleus |
| GO Biological Process | cell cycle |
|---|---|
| reciprocal meiotic recombination | |
| cell cycle arrest | |
| cell cycle checkpoint | |
| mitotic cell cycle spindle assembly checkpoint | |
| DNA damage checkpoint | |
| G2-M transition DNA damage checkpoint | |
| DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest | |
| regulation of cell cycle | |
| positive regulation of DNA damage response, signal transduction by p53 class mediator | |
| replicative senescence | |
| signal transduction | |
| intrinsic apoptotic signaling pathway in response to DNA damage response | |
| negative regulation of B cell proliferation | |
| negative regulation of apoptotic process | |
| positive regulation of apoptotic process | |
| positive regulation of neuron apoptotic process | |
| pre-B cell allelic exclusion | |
| histone mRNA catabolic process | |
| DNA repair | |
| telomere maintenance | |
| double-strand break repair | |
| double-strand break repair via homologous recombination | |
| protein phosphorylation | |
| histone phosphorylation | |
| peptidyl-serine phosphorylation | |
| protein autophosphorylation | |
| DNA damage induced protein phosphorylation | |
| histone-serine phosphorylation | |
| lipoprotein catabolic process | |
| phosphatidylinositol-3-phosphate biosynthetic process | |
| phosphorylation | |
| response to DNA damage stimulus | |
| cellular response to gamma radiation | |
| apoptotic process | |
| neuron apoptotic process | |
| response to hypoxia | |
| response to ionizing radiation | |
| somitogenesis | |
| brain development | |
| heart development | |
| female gamete generation |
| Pathway | Apoptosis |
|---|---|
| Histone Phosphorylation | |
| Telomere Maintenance | |
| Cell Cycle | |
| Double Strand DNA Homologous Repair | |
| Double Strand DNA Non-Homologous Repair | |
| ataxia telangiectasia-mutated (ATM) signaling pathway |
| Group | ATM-ATR |
|---|---|
| cell cycle | |
| reciprocal meiotic recombination | |
| cell cycle arrest | |
| cell cycle checkpoint | |
| mitotic cell cycle spindle assembly checkpoint | |
| DNA damage checkpoint | |
| G2-M transition DNA damage checkpoint | |
| DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest | |
| regulation of cell cycle | |
| positive regulation of DNA damage response, signal transduction by p53 class mediator | |
| replicative senescence | |
| signal transduction | |
| intrinsic apoptotic signaling pathway in response to DNA damage response | |
| negative regulation of B cell proliferation | |
| negative regulation of apoptotic process | |
| positive regulation of apoptotic process | |
| positive regulation of neuron apoptotic process | |
| pre-B cell allelic exclusion | |
| histone mRNA catabolic process | |
| DNA repair | |
| telomere maintenance | |
| double-strand break repair | |
| double-strand break repair via homologous recombination | |
| protein phosphorylation | |
| histone phosphorylation | |
| peptidyl-serine phosphorylation | |
| protein autophosphorylation | |
| DNA damage induced protein phosphorylation | |
| histone-serine phosphorylation | |
| lipoprotein catabolic process | |
| phosphatidylinositol-3-phosphate biosynthetic process | |
| phosphorylation | |
| response to DNA damage stimulus | |
| cellular response to gamma radiation | |
| apoptotic process | |
| neuron apoptotic process | |
| response to hypoxia | |
| response to ionizing radiation | |
| somitogenesis | |
| brain development | |
| heart development | |
| female gamete generation | |
| protein complex binding | |
| protein N-terminus binding | |
| nucleotide binding | |
| ATP binding | |
| DNA binding | |
| transferase activity | |
| transferase activity, transferring phosphorus-containing groups | |
| phosphotransferase activity, alcohol group as acceptor | |
| kinase activity | |
| protein kinase activity | |
| 1-phosphatidylinositol-3-kinase activity | |
| protein serine-threonine kinase activity | |
| histone serine kinase activity | |
| DNA-dependent protein kinase activity | |
| nucleoplasm | |
| chromosome, telomeric region | |
| spindle | |
| cytoplasm | |
| cytoplasmic vesicle | |
| cytoplasmic membrane-bounded vesicle | |
| nucleus | |
| Secreted proteins | |
| Biofluids assayable substances |
| MedScan ID | 472 |
|---|
| Hugo ID | 795 |
|---|
| Human chromosome position | 11q22-q23 |
|---|
| LocusLink ID | 472 |
|---|---|
| 11920 | |
| 300711 |
| Alias | AT1 |
|---|---|
| ATA | |
| ATC | |
| ATD | |
| ATE | |
| ATDC | |
| TEL1 | |
| TELO1 | |
| serine-protein kinase ATM | |
| AT mutated | |
| A-T mutated | |
| TEL1, telomere maintenance 1, homolog | |
| AI256621 | |
| C030026E19Rik | |
| A-T mutated homolog | |
| ataxia telangiectasia gene mutated in human beings | |
| C030026E19 | |
| ataxia telangiectasia mutated protein isoform 2 | |
| ataxia telangiectasia mutated protein isoform 3 | |
| ataxia telangiectasia mutated protein isoform I | |
| ataxia telangiectasia mutated protein isoform II | |
| ataxia telangiectasia mutated protein isoform III | |
| ATM | |
| human phosphatidylinositol 3-kinase homolog | |
| MGC74674 | |
| OTTMUSP00000041767 | |
| ataxia telangiectasia mutated protein isoform 1 | |
| DKFZp781A0353 | |
| AT complementation group E | |
| includes complementation groups A, C and D | |
| ataxia telangiectasia mutated homolog (human) | |
| AT complementation group A | |
| AT complementation group D | |
| AT complementing group A | |
| AT complementing group C | |
| AT complementing group E | |
| ataxia telangiectasia mutated homolog | |
| ataxia telangiectasia mutated | |
| AT complementing group D | |
| ataxia telangiectasia mutated (includes complementation groups A, C and D) | |
| AT complementation group C |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 607585 |
|---|---|
| 208900 | |
| 114480 |
| Unigene ID | Hs.367437 |
|---|---|
| Mm.5088 | |
| Rn.214048 |
| KEGG ID | hsa:472 |
|---|---|
| mmu:11920 | |
| rno:300711 |
| Swiss-Prot Accession | Q13315 |
|---|---|
| Q62388 | |
| D4ACL8 | |
| E9QNY7 | |
| B2RNX5 | |
| O15429 | |
| Q12758 | |
| Q16551 | |
| Q93007 | |
| Q9NP02 | |
| Q9UCX7 |
| EC Number | 2.7.11.1 |
|---|
| GO ID | 0016303 |
|---|---|
| 0005524 | |
| 0003677 | |
| 0004677 | |
| 0035174 | |
| 0047485 | |
| 0032403 | |
| 0004674 | |
| 0006975 | |
| 0006977 | |
| 0006281 | |
| 0031572 | |
| 0007420 | |
| 0007050 | |
| 0000075 | |
| 0071480 | |
| 0006302 | |
| 0000724 | |
| 0007292 | |
| 0007507 | |
| 0071044 | |
| 0008630 | |
| 0042159 | |
| 0007094 | |
| 0030889 | |
| 0043066 | |
| 0051402 | |
| 0018105 | |
| 0036092 | |
| 0043517 | |
| 0043065 | |
| 0043525 | |
| 0002331 | |
| 0046777 | |
| 0007131 | |
| 0090399 | |
| 0006974 | |
| 0001666 | |
| 0010212 | |
| 0007165 | |
| 0001756 | |
| 0000781 | |
| 0016023 | |
| 0005654 | |
| 0005819 | |
| 0016301 | |
| 0000166 | |
| 0016773 | |
| 0004672 | |
| 0016740 | |
| 0016772 | |
| 0000077 | |
| 0007049 | |
| 0016572 | |
| 0035404 | |
| 0016310 | |
| 0006468 | |
| 0051726 | |
| 0000723 | |
| 0005737 | |
| 0031410 | |
| 0005634 | |
| 0006915 |
| PIR ID | A43100 |
|---|
| Swiss-Prot ID | ATM_MOUSE |
|---|---|
| ATM_HUMAN |
| Cell Localization | Nucleus |
|---|---|
| Cytoplasmic vesicle | |
| Cytoplasm |
| IPI ID | IPI00124810 |
|---|---|
| IPI00298306 |
| Mouse chromosome position | 9 30.0 cM |
|---|
| Rat chromosome position | 8q24 |
|---|
| Homologene ID | 30952 |
|---|
| MGI ID | 107202 |
|---|
| RGD ID | 1593265 |
|---|
| Primary Cell Localization | Cytoplasm |
|---|