| Connectivity | 320 |
|---|---|
| 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. At least three alternatively spliced transcript variants, which encode distinct isoforms, have been identified. |
| Hugo ID | 795 |
| Name | ATM |
| Description | ataxia telangiectasia mutated homolog (human) |
| URN | urn:agi-llid:472 |
| GO Cellular Component | intracellular |
|---|---|
| nucleus |
| Cell Localization | Cytoplasm |
|---|---|
| Nucleus |
| GO Biological Process | DNA damage response, signal transduction resulting in induction of apoptosis |
|---|---|
| DNA repair | |
| cell cycle | |
| negative regulation of cell cycle | |
| regulation of transcription, DNA-dependent | |
| response to DNA damage stimulus | |
| DNA damage checkpoint | |
| meiotic recombination | |
| signal transduction |
| EC Number | 2.7.1.37 |
|---|
| State | ataxia telangiectasia mutated protein isoform 1 |
|---|---|
| ataxia telangiectasia mutated protein isoform 2 | |
| ataxia telangiectasia mutated protein isoform 3 |
| State Description | Transcript Variant: This variant (1) encodes the longest isoform (1). |
|---|---|
| Transcript Variant: This variant (2) contains a distinct 5' UTR and is missing part of the 5' end of the coding region when compared to variant 1. The resulting isoform (2) has a truncated N-terminus when compared to isoform 1. | |
| Transcript Variant: This variant (3) lacks a large portion of the 5' and 3' regions and contains distinct 5' and 3' UTRs when compared to variant 1. The resulting isoform (3) is a protein truncated at both termini, as compared to isoform 1. |
| MGI ID | 107202 |
|---|
| Swiss-Prot Accession | Q13315 |
|---|
| OMIM ID | OMIM:607585 |
|---|---|
| OMIM:208900 | |
| OMIM:114480 |
| Alias | Atm |
|---|---|
| ataxia telangiectasia mutated homolog (human) | |
| Ataxia telangiectasia gene mutated in human beings | |
| AT1 | |
| ATA | |
| ATC | |
| ATE | |
| ataxia telangiectasia mutated (includes complementation groups A, C and D) | |
| AT mutated | |
| AT protein | |
| serine-protein kinase ATM | |
| AT complementation group A | |
| AT complementation group C | |
| AT complementation group D | |
| AT complementation group E | |
| human phosphatidylinositol 3-kinase homolog | |
| ATM_HUMAN | |
| AT complementing group A | |
| AT complementing group C | |
| AT complementing group D | |
| AT complementing group E | |
| Ataxia telangiectasia mutated | |
| ataxia telangiectasia mutated homolog | |
| ataxia telangiectasia mutated protein isoform 1 | |
| 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 | |
| A-T, mutated |
| Organism | Rattus norvegicus |
|---|---|
| Mus musculus | |
| Human |
| LocusLink ID | 25015 |
|---|---|
| 300711 | |
| 11920 | |
| 472 |
| RGD ID | 2166 |
|---|
| Pathway | RB Tumor Suppressor |
|---|---|
| p53 Signaling | |
| ATM signaling | |
| moduled_proteins | |
| moduleg_direct | |
| moduleg_shortest | |
| modulef_direct |
| Unigene ID | Rn.98962 |
|---|---|
| Mm.5088 | |
| Hs.526394 |
| Group | Kinases |
|---|---|
| transferase activity | |
| nucleic acid binding |