| Gene Information | |
|---|---|
| Gene Name | ATM |
| Organism | Homo sapiens (Human) |
| Gene Length | 3056 |
| Protein Names | Serine-protein kinase ATM (EC 2.7.11.1) (Ataxia telangiectasia mutated) (A-T mutated) |
| Target Name | atm serine/threonine kinase |
| Target Type | Clinical trial target |
| Gene Age | 1064 ( ENSG00000149311 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | NA |
| Gene Card | ATM |
| Uniprot ID | Q13315 |
| Pfam | PF02259; PF02260; PF00454; PF11640 |
| In ASD | no |
| Allosteric Prediction | yes (0.701054605) |
| Ortholog in Animals | Alpaca_ ATM ( ortholog_one2one ) Dog_ ATM ( ortholog_one2one ) GuineaPig_ ATM ( ortholog_one2one ) Macaque_ ATM ( ortholog_one2one ) Mouse_ Atm ( ortholog_one2one ) Pig_ ATM ( ortholog_one2one ) Rat_ Atm ( ortholog_one2one ) Rabbit_ ATM ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | TRRAP, SMG1, ATR, PRKDC, MTOR |
| Tissue | NA |
| Tissue Specificity | Found in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain, heart, spleen, thymus, testis, ovary, small intestine, colon and leukocytes. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.418674(Rat);0.091179(Rabbit) |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 5NP0 (EM 5.70A ) 5NP1 (EM 5.70A ) 6HKA (NMR - ) 6K9K (EM 7.82A ) 6K9L (EM 4.27A ) 7NI4 (EM 3.00A ) 7NI5 (EM 2.78A ) 7NI6 (EM 2.80A ) 7SIC (EM 2.51A ) 7SID (EM 2.53A ) |
| DBSNP | rs587779858 rs55861249 rs3218684 rs1800054 rs2234997 rs55633650 rs3218707 rs145053092 rs56123940 rs747727055 rs587781511 rs28904919 rs138398778 rs202160435 rs371713984 rs369203092 rs587776547 rs56128736 rs56365018 rs2235000 rs2227924 rs777301065 rs2235006 rs4986761 rs2235011 rs587778065 rs641252 rs3218695 rs879254046 rs1800056 rs3218673 rs55723361 rs35813135 rs3218708 rs3218688 rs786203054 rs3092857 rs568461905 rs1800057 rs3092841 rs35184530 rs144535256 rs3092856 rs55859590 rs1234250980 rs1800058 rs2229021 rs730881391 rs730881369 rs775047783 rs34640941 rs3092849 rs140856217 rs55870064 rs121434217 rs1800059 rs3092907 rs764389018 rs587779844 rs1801516 rs1801673 rs1060501688 rs56399311 rs659243 rs587782274 rs587781302 rs11212587 rs3218670 rs866290641 rs397514577 rs1555114558 rs1800060 rs1064795467 rs1317619286 rs564652222 rs567060474 rs1800061 rs56009889 rs4988111 rs3092831 rs876658517 rs370559102 rs730881315 rs121434221 rs28904921 rs147604227 rs587782310 rs55801750 rs876659365 rs56399857 rs587776547 rs28904920 rs267606668 rs1196903858 rs267606669 rs4988125 rs121434218 rs1471563800 rs745775382 rs876659735 rs3218680 rs55982963 rs1555128314 rs876659619 rs748634900 rs876660927 rs121434216 rs938431501 rs587779872 rs879254065 rs587778080 rs587782202 rs587781353 rs780905851 rs55798854 rs587779874 rs786202826 rs1137889 rs876658767 rs587782292 rs587781894 |
| Subcellular location [CC] | Nucleus {ECO:0000269|PubMed:9050866, ECO:0000269|PubMed:9150358}. Cytoplasmic vesicle {ECO:0000269|PubMed:9050866, ECO:0000269|PubMed:9150358}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250|UniProtKB:Q62388}. Peroxisome matrix {ECO:0000269|PubMed:26344566}. Note=Primarily nuclear (PubMed:9050866, PubMed:9150358). Found also in endocytic vesicles in association with beta-adaptin (PubMed:9707615). Translocated to peroxisomes in response to reactive oxygen species (ROS) by PEX5 (PubMed:26344566). {ECO:0000269|PubMed:26344566, ECO:0000269|PubMed:9050866, ECO:0000269|PubMed:9150358, ECO:0000269|PubMed:9707615}. |
| Mouse PG classification | NA |
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