| URN | urn:agi-llid:472 |
|---|---|
| Total Entities | 0 |
| Connectivity | 2039 |
| 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] |
| GO Molecular Function | 1-phosphatidylinositol-3-kinase activity |
|---|---|
| histone serine kinase activity | |
| transferase activity | |
| transferase activity, transferring phosphorus-containing groups | |
| kinase activity | |
| phosphotransferase activity, alcohol group as acceptor | |
| protein kinase activity | |
| protein serine-threonine kinase activity | |
| DNA-dependent protein kinase activity | |
| protein complex binding | |
| protein N-terminus binding | |
| nucleotide binding | |
| ATP binding | |
| DNA binding |
| GO Cellular Component | nucleoplasm |
|---|---|
| chromosome, telomeric region | |
| spindle | |
| intracellular | |
| cytoplasm | |
| cytoplasmic vesicle | |
| cytoplasmic membrane-bounded vesicle | |
| nucleus |
| GO Biological Process | reciprocal meiotic recombination |
|---|---|
| oocyte development | |
| female gamete generation | |
| pre-B cell allelic exclusion | |
| negative regulation of B cell proliferation | |
| telomere maintenance | |
| DNA damage induced protein phosphorylation | |
| DNA repair | |
| double-strand break repair | |
| double-strand break repair via homologous recombination | |
| phosphatidylinositol-3-phosphate biosynthetic process | |
| histone phosphorylation | |
| histone-serine phosphorylation | |
| phosphatidylinositol phosphorylation | |
| somitogenesis | |
| brain development | |
| heart development | |
| replicative senescence | |
| cell cycle | |
| mitotic spindle assembly checkpoint | |
| cell cycle arrest | |
| DNA damage checkpoint | |
| G2 DNA damage checkpoint | |
| signal transduction involved in mitotic G2 DNA damage checkpoint | |
| DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest | |
| regulation of cell cycle | |
| signal transduction | |
| intrinsic apoptotic signaling pathway in response to DNA damage | |
| positive regulation of DNA damage response, signal transduction by p53 class mediator | |
| apoptotic process | |
| positive regulation of apoptotic process | |
| negative regulation of apoptotic process | |
| positive regulation of neuron apoptotic process | |
| neuron apoptotic process | |
| response to hypoxia | |
| cellular response to DNA damage stimulus | |
| response to ionizing radiation | |
| cellular response to gamma radiation | |
| histone mRNA catabolic process | |
| protein phosphorylation | |
| peptidyl-serine phosphorylation | |
| protein autophosphorylation | |
| phosphorylation | |
| lipoprotein catabolic process |
| Pathway | Apoptosis |
|---|---|
| Histone Phosphorylation | |
| Telomere Maintenance | |
| Cell Cycle | |
| Double Strand DNA Homologous Repair | |
| Double Strand DNA Non-Homologous Repair | |
| Proteins Involved in Pathogenesis of T-cell Acute Lymphoblastic Leukemia | |
| B-cell Chronic Lymphocytic Leukemia Overview | |
| Proteins Involved in Pathogenesis of B-cell Chronic Lymphocytic Leukemia | |
| Proteins Involved in Pathogenesis of Parkinson's Disease | |
| Proteins Involved in Pathogenesis of Diffuse Large-B-cell Lymphoma | |
| Follicular Lymphoma Overview | |
| Li-Fraumeni Syndrome | |
| Mantle Cell Lymphoma Overview | |
| Deregulation of Cell Cycle and DNA Repair in Mantle Cell Lymphoma | |
| Proteins Involved in Pathogenesis of Mantle Cell Lymphoma | |
| Clear Cell Ovarian Carcinoma | |
| Proteins Involved in Pathogenesis of Clear Cell Ovarian Carcinoma | |
| Proteins Involved in Pathogenesis of Mucinous Ovarian Carcinoma | |
| Proteins Involved in Pathogenesis of High-grade Serous Ovarian Carcinoma | |
| Proteins Involved in Pathogenesis of Endometrioid Ovarian Carcinoma | |
| Ovarian Cancer Overview | |
| Proteins Involved in Pathogenesis of Low-grade Serous Ovarian Carcinoma | |
| Proteins Involved in Pathogenesis of Endometrial Cancer | |
| Immunoglobulin Class-Switch Recombination via Classical Non-Homologous End-Joining | |
| Proteins Involved in Pathogenesis of Glioblastoma | |
| Proteins Involved in Pathogenesis of Glioma | |
| Proteins Involved in Pathogenesis of Astrocytoma | |
| TP53 Signaling in Pancreatic Cancer | |
| Pancreatic Ductal Carcinoma | |
| Proteins Involved in Pathogenesis of Pancreatic Cancer | |
| ataxia telangiectasia-mutated (ATM) signaling pathway | |
| Copy of 'ataxia telangiectasia-mutated (ATM) signaling pathway' |
| Group | ATM/ATR |
|---|---|
| reciprocal meiotic recombination | |
| oocyte development | |
| female gamete generation | |
| pre-B cell allelic exclusion | |
| negative regulation of B cell proliferation | |
| telomere maintenance | |
| DNA damage induced protein phosphorylation | |
| DNA repair | |
| double-strand break repair | |
| double-strand break repair via homologous recombination | |
| phosphatidylinositol-3-phosphate biosynthetic process | |
| 1-phosphatidylinositol-3-kinase activity | |
| histone phosphorylation | |
| histone-serine phosphorylation | |
| histone serine kinase activity | |
| phosphatidylinositol phosphorylation | |
| somitogenesis | |
| brain development | |
| heart development | |
| replicative senescence | |
| cell cycle | |
| mitotic spindle assembly checkpoint | |
| cell cycle arrest | |
| DNA damage checkpoint | |
| G2 DNA damage checkpoint | |
| signal transduction involved in mitotic G2 DNA damage checkpoint | |
| DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest | |
| regulation of cell cycle | |
| signal transduction | |
| intrinsic apoptotic signaling pathway in response to DNA damage | |
| positive regulation of DNA damage response, signal transduction by p53 class mediator | |
| apoptotic process | |
| positive regulation of apoptotic process | |
| negative regulation of apoptotic process | |
| positive regulation of neuron apoptotic process | |
| neuron apoptotic process | |
| response to hypoxia | |
| cellular response to DNA damage stimulus | |
| response to ionizing radiation | |
| cellular response to gamma radiation | |
| transferase activity | |
| transferase activity, transferring phosphorus-containing groups | |
| kinase activity | |
| phosphotransferase activity, alcohol group as acceptor | |
| protein kinase activity | |
| protein serine-threonine kinase activity | |
| DNA-dependent protein kinase activity | |
| histone mRNA catabolic process | |
| protein phosphorylation | |
| peptidyl-serine phosphorylation | |
| protein autophosphorylation | |
| phosphorylation | |
| lipoprotein catabolic process | |
| protein complex binding | |
| protein N-terminus binding | |
| nucleotide binding | |
| ATP binding | |
| DNA binding | |
| nucleoplasm | |
| chromosome, telomeric region | |
| spindle | |
| intracellular | |
| cytoplasm | |
| cytoplasmic vesicle | |
| cytoplasmic membrane-bounded vesicle | |
| nucleus | |
| Genes with Mutations Associated with B-cell Chronic Lymphocytic Leukemia | |
| Genes with Mutations Associated with Follicular Lymphoma | |
| Genes with Mutations Associated with Mantle Cell Lymphoma | |
| Genes with Mutations Associated with Breast Cancer | |
| Proteins Involved in Pathogenesis of Hereditary Breast and Ovarian Cancer Syndrome | |
| Proteins Involved in Pathogenesis of Li-Fraumeni Syndrome | |
| Basic Regulators of Immunoglobulin Class-Switch Recombination | |
| Genes with Mutations Associated with Pancreatic Cancer | |
| Secreted proteins | |
| Biofluids assayable substances |
| LocusLink ID | 472 |
|---|---|
| 11920 | |
| 300711 |
| Cell Localization | Cytoplasm |
|---|---|
| Nucleus | |
| Cytoplasmic vesicle |
| GO ID | 0016303 |
|---|---|
| 0005524 | |
| 0003677 | |
| 0004677 | |
| 0035174 | |
| 0047485 | |
| 0032403 | |
| 0004674 | |
| 0006975 | |
| 0006977 | |
| 0006281 | |
| 0007420 | |
| 0007050 | |
| 0006974 | |
| 0071480 | |
| 0006302 | |
| 0000724 | |
| 0007292 | |
| 0007507 | |
| 0071044 | |
| 0008630 | |
| 0042159 | |
| 0007094 | |
| 0030889 | |
| 0043066 | |
| 0051402 | |
| 0018105 | |
| 0036092 | |
| 0043517 | |
| 0043065 | |
| 0043525 | |
| 0002331 | |
| 0046777 | |
| 0006468 | |
| 0007131 | |
| 0090399 | |
| 0001666 | |
| 0010212 | |
| 0007165 | |
| 0072434 | |
| 0001756 | |
| 0000781 | |
| 0016023 | |
| 0005654 | |
| 0005819 | |
| 0016301 | |
| 0000166 | |
| 0016773 | |
| 0004672 | |
| 0016740 | |
| 0016772 | |
| 0000077 | |
| 0007049 | |
| 0016572 | |
| 0035404 | |
| 0048599 | |
| 0046854 | |
| 0016310 | |
| 0051726 | |
| 0000723 | |
| 0005737 | |
| 0031410 | |
| 0005622 | |
| 0005634 | |
| 0031572 | |
| 0006915 | |
| 0000075 |
| 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 | |
| ataxia telangiectasia mutated homolog | |
| MGC74674 | |
| ataxia telangiectasia mutated protein isoform III | |
| RIKEN cDNA C030026E19 gene | |
| ATM | |
| DKFZp781A0353 | |
| human phosphatidylinositol 3-kinase homolog | |
| includes complementation groups A, C and D | |
| C030026E19 | |
| OTTMUSP00000041767 | |
| ATM kinase | |
| checkpoint kinase ATM | |
| ataxia telangiectasia mutated | |
| ataxia telangiectasia mutated protein isoform II | |
| AT complementing group A | |
| protein kinase ATM | |
| AT complementation group E | |
| AT complementation group A | |
| AT complementing group D | |
| AT complementation group D | |
| ataxia telangiectasia mutated protein isoform I | |
| AT complementing group C | |
| AT complementing group E | |
| ataxia telangiectasia mutated (includes complementation groups A, C and D) | |
| ataxia telangiectasia mutated homolog (human) | |
| ataxia telangiectasia mutated protein isoform 1 | |
| ataxia telangiectasia mutated protein isoform 2 | |
| ataxia telangiectasia mutated protein isoform 3 | |
| AT complementation group C |
| Mouse chromosome position | 9 29.12 cM |
|---|---|
| 9 30.0 cM |
| OMIM ID | 607585 |
|---|---|
| 208900 | |
| 114480 |
| Rat chromosome position | 8q24 |
|---|
| Hugo ID | 795 |
|---|
| Human chromosome position | 11q22-q23 |
|---|
| Swiss-Prot Accession | Q13315 |
|---|---|
| Q62388 | |
| D4ACL8 | |
| E9QNY7 | |
| B2RNX5 | |
| O15429 | |
| Q12758 | |
| Q16551 | |
| Q93007 | |
| Q9NP02 | |
| Q9UCX7 |
| PIR ID | A43100 |
|---|
| Unigene ID | Hs.367437 |
|---|---|
| Mm.5088 | |
| Rn.214048 |
| KEGG ID | hsa:472 |
|---|---|
| mmu:11920 | |
| rno:300711 |
| Swiss-Prot ID | ATM_MOUSE |
|---|---|
| ATM_HUMAN |
| EC Number | 2.7.11.1 |
|---|
| Ensembl ID | ENSG00000149311 |
|---|---|
| ENSP00000278616 | |
| ENST00000278616 | |
| ENSP00000388058 | |
| ENST00000452508 | |
| ENSMUSG00000034218 | |
| ENSMUSP00000113388 | |
| ENSMUST00000118282 | |
| ENSRNOG00000029773 | |
| ENSRNOP00000045529 | |
| ENSRNOT00000050555 |
| Homologene ID | 30952 |
|---|
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| MGI ID | 107202 |
|---|
| RGD ID | 1593265 |
|---|
| MedScan ID | 472 |
|---|
| Primary Cell Localization | Cytoplasm |
|---|
| IPI ID | IPI00124810 |
|---|---|
| IPI00298306 |