UniProtKB - Q13315 (ATM_HUMAN)
Serine-protein kinase ATM
ATM
Functioni
Catalytic activityi
Activity regulationi
GO - Molecular functioni
- 1-phosphatidylinositol-3-kinase activity Source: UniProtKB
- ATP binding Source: UniProtKB-KW
- DNA binding Source: UniProtKB-KW
- DNA-dependent protein kinase activity Source: BHF-UCL
- identical protein binding Source: BHF-UCL
- protein-containing complex binding Source: BHF-UCL
- protein N-terminus binding Source: UniProtKB
- protein serine/threonine kinase activity Source: UniProtKB
- protein serine kinase activity Source: UniProtKB-EC
- protein threonine kinase activity Source: UniProtKB-EC
GO - Biological processi
- brain development Source: Ensembl
- cell cycle arrest Source: BHF-UCL
- cellular response to DNA damage stimulus Source: UniProtKB
- cellular response to gamma radiation Source: CAFA
- cellular response to nitrosative stress Source: ParkinsonsUK-UCL
- cellular response to retinoic acid Source: ARUK-UCL
- cellular response to X-ray Source: ParkinsonsUK-UCL
- determination of adult lifespan Source: Ensembl
- DNA damage checkpoint Source: GO_Central
- DNA damage induced protein phosphorylation Source: UniProtKB
- DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest Source: Reactome
- DNA double-strand break processing Source: Reactome
- DNA replication Source: Reactome
- double-strand break repair Source: Reactome
- double-strand break repair via homologous recombination Source: Ensembl
- double-strand break repair via nonhomologous end joining Source: Reactome
- establishment of protein-containing complex localization to telomere Source: BHF-UCL
- establishment of RNA localization to telomere Source: BHF-UCL
- female meiotic nuclear division Source: Ensembl
- heart development Source: Ensembl
- histone mRNA catabolic process Source: UniProtKB
- histone phosphorylation Source: InterPro
- intrinsic apoptotic signaling pathway in response to DNA damage Source: GO_Central
- lipoprotein catabolic process Source: Ensembl
- male meiotic nuclear division Source: Ensembl
- meiotic telomere clustering Source: Ensembl
- mitotic spindle assembly checkpoint Source: UniProtKB
- multicellular organism growth Source: Ensembl
- negative regulation of B cell proliferation Source: UniProtKB
- negative regulation of telomere capping Source: BHF-UCL
- negative regulation of TORC1 signaling Source: ParkinsonsUK-UCL
- neuron apoptotic process Source: Ensembl
- oocyte development Source: Ensembl
- ovarian follicle development Source: Ensembl
- peptidyl-serine autophosphorylation Source: MGI
- peptidyl-serine phosphorylation Source: UniProtKB
- pexophagy Source: Reactome
- positive regulation of apoptotic process Source: UniProtKB
- positive regulation of cell adhesion Source: ARUK-UCL
- positive regulation of cell migration Source: BHF-UCL
- positive regulation of DNA catabolic process Source: Ensembl
- positive regulation of DNA damage response, signal transduction by p53 class mediator Source: BHF-UCL
- positive regulation of gene expression Source: BHF-UCL
- positive regulation of histone phosphorylation Source: Ensembl
- positive regulation of neuron apoptotic process Source: Ensembl
- positive regulation of telomerase catalytic core complex assembly Source: BHF-UCL
- positive regulation of telomere maintenance via telomerase Source: BHF-UCL
- positive regulation of telomere maintenance via telomere lengthening Source: BHF-UCL
- positive regulation of transcription by RNA polymerase II Source: ARUK-UCL
- post-embryonic development Source: Ensembl
- pre-B cell allelic exclusion Source: UniProtKB
- protein autophosphorylation Source: BHF-UCL
- protein phosphorylation Source: UniProtKB
- reciprocal meiotic recombination Source: ProtInc
- regulation of apoptotic process Source: Reactome
- regulation of autophagy Source: ParkinsonsUK-UCL
- regulation of cellular response to gamma radiation Source: Ensembl
- regulation of cellular response to heat Source: Reactome
- regulation of microglial cell activation Source: Ensembl
- regulation of signal transduction by p53 class mediator Source: Reactome
- regulation of telomere maintenance via telomerase Source: BHF-UCL
- replicative senescence Source: BHF-UCL
- response to hypoxia Source: Ensembl
- response to ionizing radiation Source: UniProtKB
- signal transduction Source: ProtInc
- signal transduction involved in mitotic G2 DNA damage checkpoint Source: BHF-UCL
- somitogenesis Source: Ensembl
- telomere maintenance Source: GO_Central
- thymus development Source: Ensembl
- V(D)J recombination Source: Ensembl
Keywordsi
Molecular function | DNA-binding, Kinase, Serine/threonine-protein kinase, Transferase |
Biological process | Cell cycle, DNA damage |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q13315 |
Reactomei | R-HSA-2559586, DNA Damage/Telomere Stress Induced Senescence R-HSA-3371453, Regulation of HSF1-mediated heat shock response R-HSA-349425, Autodegradation of the E3 ubiquitin ligase COP1 R-HSA-5685938, HDR through Single Strand Annealing (SSA) R-HSA-5685942, HDR through Homologous Recombination (HRR) R-HSA-5693548, Sensing of DNA Double Strand Breaks R-HSA-5693554, Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) R-HSA-5693565, Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks R-HSA-5693568, Resolution of D-loop Structures through Holliday Junction Intermediates R-HSA-5693571, Nonhomologous End-Joining (NHEJ) R-HSA-5693579, Homologous DNA Pairing and Strand Exchange R-HSA-5693607, Processing of DNA double-strand break ends R-HSA-5693616, Presynaptic phase of homologous DNA pairing and strand exchange R-HSA-6796648, TP53 Regulates Transcription of DNA Repair Genes R-HSA-6803204, TP53 Regulates Transcription of Genes Involved in Cytochrome C Release R-HSA-6803207, TP53 Regulates Transcription of Caspase Activators and Caspases R-HSA-6804756, Regulation of TP53 Activity through Phosphorylation R-HSA-6804757, Regulation of TP53 Degradation R-HSA-6804760, Regulation of TP53 Activity through Methylation R-HSA-69473, G2/M DNA damage checkpoint R-HSA-69541, Stabilization of p53 R-HSA-912446, Meiotic recombination R-HSA-9664873, Pexophagy |
SignaLinki | Q13315 |
SIGNORi | Q13315 |
Names & Taxonomyi
Protein namesi | Recommended name: Serine-protein kinase ATM (EC:2.7.11.15 Publications)Alternative name(s): Ataxia telangiectasia mutated Short name: A-T mutated |
Gene namesi | Name:ATM |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:795, ATM |
MIMi | 607585, gene |
neXtProti | NX_Q13315 |
VEuPathDBi | HostDB:ENSG00000149311.17 |
Subcellular locationi
Nucleus
- Nucleus 2 Publications
Other locations
- Cytoplasmic vesicle 2 Publications
Note: Primarily nuclear. Found also in endocytic vesicles in association with beta-adaptin.2 Publications
Cytoskeleton
- spindle Source: Ensembl
Cytosol
- cytosol Source: Reactome
Nucleus
- nucleolus Source: UniProtKB
- nucleoplasm Source: HPA
- nucleus Source: ParkinsonsUK-UCL
Peroxisome
- peroxisomal matrix Source: Reactome
Other locations
- cytoplasm Source: UniProtKB
- cytoplasmic vesicle Source: UniProtKB-KW
- DNA repair complex Source: MGI
- intracellular membrane-bounded organelle Source: HPA
Keywords - Cellular componenti
Cytoplasmic vesicle, NucleusPathology & Biotechi
Involvement in diseasei
Ataxia telangiectasia (AT)27 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010801 | 224 | K → E in AT; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs145053092EnsemblClinVar. | 1 | |
Natural variantiVAR_010802 | 292 | P → L in AT; associated with lymphoma; decreased phosphorylation of target proteins. 2 PublicationsCorresponds to variant dbSNP:rs747727055EnsemblClinVar. | 1 | |
Natural variantiVAR_010803 | 323 | I → V in AT; loss of protein expression. 2 PublicationsCorresponds to variant dbSNP:rs587781511EnsemblClinVar. | 1 | |
Natural variantiVAR_010808 | 570 | F → S in AT. 1 PublicationCorresponds to variant dbSNP:rs777301065EnsemblClinVar. | 1 | |
Natural variantiVAR_010809 | 705 – 707 | YSS → FIP in AT; might be associated with susceptibility to cancer. | 3 | |
Natural variantiVAR_010812 | 768 | N → D in AT. 1 Publication | 1 | |
Natural variantiVAR_010813 | 785 | R → C in AT. 1 PublicationCorresponds to variant dbSNP:rs587778065EnsemblClinVar. | 1 | |
Natural variantiVAR_010815 | 950 | L → R in AT. Corresponds to variant dbSNP:rs786203054EnsemblClinVar. | 1 | |
Natural variantiVAR_010816 | 1001 | L → Q in AT; associated with T-cell acute lymphoblastic leukemia. 1 Publication | 1 | |
Natural variantiVAR_077237 | 1046 | L → P in AT; loss of protein expression. 1 PublicationCorresponds to variant dbSNP:rs568461905EnsemblClinVar. | 1 | |
Natural variantiVAR_010819 | 1082 | H → L in AT. | 1 | |
Natural variantiVAR_010820 | 1091 | E → D in AT. 1 Publication | 1 | |
Natural variantiVAR_010823 | 1420 | L → P in AT. 1 Publication | 1 | |
Natural variantiVAR_010826 | 1465 | L → P in AT; decreased phosphorylation of target proteins. 2 PublicationsCorresponds to variant dbSNP:rs730881391EnsemblClinVar. | 1 | |
Natural variantiVAR_010827 | 1566 | P → R in AT. 1 Publication | 1 | |
Natural variantiVAR_010831 | 1743 | T → I in AT; associated with preleukemic T-cell proliferation; decreased phosphorylation of target proteins. 2 PublicationsCorresponds to variant dbSNP:rs587779844EnsemblClinVar. | 1 | |
Natural variantiVAR_010832 | 1812 – 1813 | AF → V in AT. 1 Publication | 2 | |
Natural variantiVAR_010836 | 1913 | V → G in AT. 1 PublicationCorresponds to variant dbSNP:rs1060501688EnsemblClinVar. | 1 | |
Natural variantiVAR_010838 | 2016 | D → G in AT. 1 PublicationCorresponds to variant dbSNP:rs587781302EnsemblClinVar. | 1 | |
Natural variantiVAR_077238 | 2023 | G → R in AT; loss of protein expression. 1 PublicationCorresponds to variant dbSNP:rs11212587EnsemblClinVar. | 1 | |
Natural variantiVAR_010839 | 2063 | G → E in AT. Corresponds to variant dbSNP:rs866290641EnsemblClinVar. | 1 | |
Natural variantiVAR_010840 | 2067 | A → D in AT. 1 PublicationCorresponds to variant dbSNP:rs397514577EnsemblClinVar. | 1 | |
Natural variantiVAR_077239 | 2068 | L → S in AT; decreased protein abundance; loss of DNA damage induced protein autophosphorylation. 1 PublicationCorresponds to variant dbSNP:rs1555114558EnsemblClinVar. | 1 | |
Natural variantiVAR_077240 | 2080 | Y → D in AT; loss of DNA damage induced protein autophosphorylation. 1 PublicationCorresponds to variant dbSNP:rs1064795467EnsemblClinVar. | 1 | |
Natural variantiVAR_010844 | 2218 | S → C in AT. 1 Publication | 1 | |
Natural variantiVAR_010845 | 2224 – 2227 | MALR → IS in AT. | 4 | |
Natural variantiVAR_010846 | 2227 | R → C in AT. 1 PublicationCorresponds to variant dbSNP:rs564652222EnsemblClinVar. | 1 | |
Natural variantiVAR_010847 | 2246 – 2252 | CIKDILT → H in AT. | 7 | |
Natural variantiVAR_010854 | 2424 | V → G in AT; also found in B-cell chronic lymphocytic leukemia and T-prolymphocytic leukemia; may be associated with increased risk for breast cancer; decreased phosphorylation of target proteins. 5 PublicationsCorresponds to variant dbSNP:rs28904921EnsemblClinVar. | 1 | |
Natural variantiVAR_010855 | 2427 – 2428 | Missing in AT; also found in T-prolymphocytic leukemia; lack of phosphorylation of target proteins. 4 Publications | 2 | |
Natural variantiVAR_010858 | 2470 | Y → D in AT. 1 PublicationCorresponds to variant dbSNP:rs876659365EnsemblClinVar. | 1 | |
Natural variantiVAR_010860 | 2491 | W → R in AT. 1 Publication | 1 | |
Natural variantiVAR_010861 | 2546 – 2548 | Missing in AT; also found in T-prolymphocytic leukemia and T-cell acute lymphoblastic leukemia; lack of phosphorylation of target proteins. 11 Publications | 3 | |
Natural variantiVAR_010862 | 2554 | H → D in AT; lack of phosphorylation of target proteins. 2 Publications | 1 | |
Natural variantiVAR_010864 | 2625 – 2626 | DA → EP in AT. Corresponds to variant dbSNP:rs267606668Ensembl. | 2 | |
Natural variantiVAR_010863 | 2625 | D → Q in AT; requires 2 nucleotide substitutions. 1 Publication | 1 | |
Natural variantiVAR_077241 | 2627 | Y → H in AT; loss of protein expression. 1 Publication | 1 | |
Natural variantiVAR_010865 | 2656 | L → P in AT. 1 PublicationCorresponds to variant dbSNP:rs121434218Ensembl. | 1 | |
Natural variantiVAR_010866 | 2662 | Missing in AT. 1 Publication | 1 | |
Natural variantiVAR_010867 | 2663 | Missing in AT. | 1 | |
Natural variantiVAR_010868 | 2668 | E → G in AT; unknown pathological significance; no effect on phosphorylation of target proteins. 2 Publications | 1 | |
Natural variantiVAR_010870 | 2702 | I → R in AT. Corresponds to variant dbSNP:rs876659735EnsemblClinVar. | 1 | |
Natural variantiVAR_010874 | 2726 | A → V in AT. | 1 | |
Natural variantiVAR_010878 | 2824 | C → Y in AT. 1 PublicationCorresponds to variant dbSNP:rs876660927EnsemblClinVar. | 1 | |
Natural variantiVAR_010879 | 2827 | F → C in AT; mild; decreased phosphorylation of target proteins. 3 PublicationsCorresponds to variant dbSNP:rs121434216EnsemblClinVar. | 1 | |
Natural variantiVAR_010880 | 2829 | P → L in AT. 1 PublicationCorresponds to variant dbSNP:rs938431501EnsemblClinVar. | 1 | |
Natural variantiVAR_010881 | 2832 | R → C in AT; also found in B-cell non-Hodgkin lymphoma. 3 PublicationsCorresponds to variant dbSNP:rs587779872EnsemblClinVar. | 1 | |
Natural variantiVAR_077242 | 2834 | F → L in AT; decreased protein abundance. 1 Publication | 1 | |
Natural variantiVAR_010882 | 2849 | R → P in AT. 1 PublicationCorresponds to variant dbSNP:rs587782202EnsemblClinVar. | 1 | |
Natural variantiVAR_010884 | 2855 – 2856 | SV → RI in AT; lack of phosphorylation of target proteins. 1 PublicationCorresponds to variant dbSNP:rs587781353Ensembl. | 2 | |
Natural variantiVAR_010883 | 2855 | S → R in AT. Corresponds to variant dbSNP:rs780905851EnsemblClinVar. | 1 | |
Natural variantiVAR_010885 | 2860 | Missing in AT. 2 Publications | 1 | |
Natural variantiVAR_010886 | 2867 | G → R in AT. 2 Publications | 1 | |
Natural variantiVAR_010889 | 2904 | E → G in AT. 1 PublicationCorresponds to variant dbSNP:rs786202826EnsemblClinVar. | 1 | |
Natural variantiVAR_010890 | 2909 | R → G in AT. 1 Publication | 1 | |
Natural variantiVAR_077243 | 3003 | N → D in AT; decreased protein abundance. 4 PublicationsCorresponds to variant dbSNP:rs1137889Ensembl. | 1 | |
Natural variantiVAR_010893 | 3008 | R → C in AT; also found in T-prolymphocytic leukemia and mantle cell lymphoma; lack of phosphorylation of target proteins. 6 PublicationsCorresponds to variant dbSNP:rs587782292EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 367 | S → A: Loss of IR-induced S-367 autophosphorylation. Reduced correction of cell cycle checkpoint defects and DNA-repair activity. No effect on S-1893 nor S-1981 autophosphorylation. 1 Publication | 1 | |
Mutagenesisi | 1807 | K → E: Decreased phosphorylation of target proteins. 1 Publication | 1 | |
Mutagenesisi | 1893 | S → A: Loss of IR-induced S-1893 autophosphorylation. Reduced correction of cell cycle checkpoint defects and DNA-repair activity. No effect on S-367 nor S-1981 autophosphorylation. 1 Publication | 1 | |
Mutagenesisi | 1941 | V → L: Decreased phosphorylation of target proteins. 1 Publication | 1 | |
Mutagenesisi | 1981 | S → A: Loss of IR-induced S-1981 autophosphorylation. Reduced correction of cell cycle checkpoint defects and DNA-repair activity. No effect on S-367 nor S-1893 autophosphorylation. No dimer disruption. 2 Publications | 1 | |
Mutagenesisi | 1981 | S → D or E: Disrupts the dimer. 2 Publications | 1 | |
Mutagenesisi | 2019 | Y → C: Loss of phosphorylation of target proteins. 1 Publication | 1 | |
Mutagenesisi | 2039 | E → K: Decreased phosphorylation of target proteins. 1 Publication | 1 | |
Mutagenesisi | 2338 | L → P: Loss of phosphorylation of target proteins. 1 Publication | 1 | |
Mutagenesisi | 2394 | S → L: Loss of phosphorylation of target proteins. 1 Publication | 1 | |
Mutagenesisi | 2452 | L → P: Loss of phosphorylation of target proteins. 1 Publication | 1 | |
Mutagenesisi | 2685 | S → T: No effect on phosphorylation of target proteins. 1 Publication | 1 | |
Mutagenesisi | 2699 | P → L: Loss of phosphorylation of target proteins. 1 Publication | 1 | |
Mutagenesisi | 2708 | D → N: Decreased phosphorylation of target proteins. 1 Publication | 1 | |
Mutagenesisi | 2730 | Q → P: Loss of phosphorylation of target proteins. 1 Publication | 1 | |
Mutagenesisi | 2870 | D → A: Loss of kinase activity. 1 Publication | 1 | |
Mutagenesisi | 2875 | N → K: Loss of kinase activity. 1 Publication | 1 | |
Mutagenesisi | 3016 | K → Q: Mimics acetylation, preventing dephosphorylation and subsequent ATM deactivation during the late stage of DNA damage response. 1 Publication | 1 | |
Mutagenesisi | 3016 | K → R: Loss of DNA damage-inducible acetylation. Retains constitutive kinase activity, but blocks DNA damage-induced kinase activation. Disrupts dimer and abolishes S-1981 autophosphorylation. 1 Publication | 1 | |
Mutagenesisi | 3018 | K → R: Retains DNA damage-inducible acetylation and S-1981 autophosphorylation. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Neurodegeneration, Tumor suppressorOrganism-specific databases
DisGeNETi | 472 |
GeneReviewsi | ATM |
MalaCardsi | ATM |
MIMi | 208900, phenotype |
OpenTargetsi | ENSG00000149311 |
Orphaneti | 100, Ataxia-telangiectasia 370109, Ataxia-telangiectasia variant 67038, B-cell chronic lymphocytic leukemia 52416, Mantle cell lymphoma |
PharmGKBi | PA61 |
Miscellaneous databases
Pharosi | Q13315, Tchem |
Chemistry databases
ChEMBLi | CHEMBL3797 |
DrugBanki | DB00201, Caffeine |
GuidetoPHARMACOLOGYi | 1934 |
Genetic variation databases
BioMutai | ATM |
DMDMi | 317373479 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000088840 | 2 – 3056 | Serine-protein kinase ATMAdd BLAST | 3055 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylserineCombined sources | 1 | |
Modified residuei | 367 | Phosphoserine; by autocatalysis1 Publication | 1 | |
Modified residuei | 1893 | Phosphoserine; by autocatalysis1 Publication | 1 | |
Modified residuei | 1981 | Phosphoserine; by autocatalysisCombined sources5 Publications | 1 | |
Modified residuei | 1983 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2996 | PhosphoserineCombined sources | 1 | |
Modified residuei | 3016 | N6-acetyllysine2 Publications | 1 |
Post-translational modificationi
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
CPTACi | CPTAC-3210 CPTAC-3211 CPTAC-3212 CPTAC-3213 CPTAC-912 CPTAC-913 |
EPDi | Q13315 |
jPOSTi | Q13315 |
MassIVEi | Q13315 |
MaxQBi | Q13315 |
PaxDbi | Q13315 |
PeptideAtlasi | Q13315 |
PRIDEi | Q13315 |
ProteomicsDBi | 59303 |
PTM databases
GlyGeni | Q13315, 2 sites, 1 O-linked glycan (2 sites) |
iPTMneti | Q13315 |
PhosphoSitePlusi | Q13315 |
Expressioni
Tissue specificityi
Inductioni
Gene expression databases
Bgeei | ENSG00000149311, Expressed in corpus callosum and 239 other tissues |
ExpressionAtlasi | Q13315, baseline and differential |
Genevisiblei | Q13315, HS |
Organism-specific databases
HPAi | ENSG00000149311, Low tissue specificity |
Interactioni
Subunit structurei
Homodimer (PubMed:28508083). Dimers or tetramers in inactive state. On DNA damage, autophosphorylation dissociates ATM into monomers rendering them catalytically active. Binds p53/TP53, ABL1, BRCA1, NBN/nibrin and TERF1. Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBN protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains.
Interacts with RAD17; DNA damage promotes the association.
Interacts with EEF1E1; the interaction, induced on DNA damage, up-regulates TP53.
Interacts with DCLRE1C, KAT8, KAT5, NABP2, ATMIN and CEP164.
Interacts with AP2B1 and AP3B2; the interaction occurs in cytoplasmic vesicles (By similarity).
Interacts with TELO2 and TTI1.
Interacts with DDX1.
Interacts with BRAT1.
By similarity19 PublicationsBinary interactionsi
Hide detailsQ13315
GO - Molecular functioni
- identical protein binding Source: BHF-UCL
- protein N-terminus binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 106962, 233 interactors |
CORUMi | Q13315 |
DIPi | DIP-182N |
IntActi | Q13315, 99 interactors |
MINTi | Q13315 |
STRINGi | 9606.ENSP00000278616 |
Chemistry databases
BindingDBi | Q13315 |
Miscellaneous databases
RNActi | Q13315, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q13315 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 1940 – 2566 | FATPROSITE-ProRule annotationAdd BLAST | 627 | |
Domaini | 2712 – 2962 | PI3K/PI4KPROSITE-ProRule annotationAdd BLAST | 251 | |
Domaini | 3024 – 3056 | FATCPROSITE-ProRule annotationAdd BLAST | 33 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1373 – 1382 | Interaction with ABL11 Publication | 10 |
Domaini
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG0892, Eukaryota |
GeneTreei | ENSGT00670000098061 |
HOGENOMi | CLU_000178_3_1_1 |
InParanoidi | Q13315 |
OMAi | NHHQVRM |
OrthoDBi | 80538at2759 |
PhylomeDBi | Q13315 |
TreeFami | TF101182 |
Family and domain databases
CDDi | cd05171, PIKKc_ATM, 1 hit |
Gene3Di | 1.10.1070.11, 1 hit |
InterProi | View protein in InterPro IPR016024, ARM-type_fold IPR015519, ATM/Tel1 IPR003152, FATC_dom IPR011009, Kinase-like_dom_sf IPR000403, PI3/4_kinase_cat_dom IPR036940, PI3/4_kinase_cat_sf IPR018936, PI3/4_kinase_CS IPR003151, PIK-rel_kinase_FAT IPR014009, PIK_FAT IPR044107, PIKKc_ATM IPR021668, TAN |
PANTHERi | PTHR11139:SF72, PTHR11139:SF72, 1 hit |
Pfami | View protein in Pfam PF02259, FAT, 1 hit PF02260, FATC, 1 hit PF00454, PI3_PI4_kinase, 1 hit PF11640, TAN, 1 hit |
SMARTi | View protein in SMART SM01343, FATC, 1 hit SM00146, PI3Kc, 1 hit SM01342, TAN, 1 hit |
SUPFAMi | SSF48371, SSF48371, 1 hit SSF56112, SSF56112, 1 hit |
PROSITEi | View protein in PROSITE PS51189, FAT, 1 hit PS51190, FATC, 1 hit PS00915, PI3_4_KINASE_1, 1 hit PS00916, PI3_4_KINASE_2, 1 hit PS50290, PI3_4_KINASE_3, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 8 potential isoforms that are computationally mapped.Show allAlign All
10 20 30 40 50
MSLVLNDLLI CCRQLEHDRA TERKKEVEKF KRLIRDPETI KHLDRHSDSK
60 70 80 90 100
QGKYLNWDAV FRFLQKYIQK ETECLRIAKP NVSASTQASR QKKMQEISSL
110 120 130 140 150
VKYFIKCANR RAPRLKCQEL LNYIMDTVKD SSNGAIYGAD CSNILLKDIL
160 170 180 190 200
SVRKYWCEIS QQQWLELFSV YFRLYLKPSQ DVHRVLVARI IHAVTKGCCS
210 220 230 240 250
QTDGLNSKFL DFFSKAIQCA RQEKSSSGLN HILAALTIFL KTLAVNFRIR
260 270 280 290 300
VCELGDEILP TLLYIWTQHR LNDSLKEVII ELFQLQIYIH HPKGAKTQEK
310 320 330 340 350
GAYESTKWRS ILYNLYDLLV NEISHIGSRG KYSSGFRNIA VKENLIELMA
360 370 380 390 400
DICHQVFNED TRSLEISQSY TTTQRESSDY SVPCKRKKIE LGWEVIKDHL
410 420 430 440 450
QKSQNDFDLV PWLQIATQLI SKYPASLPNC ELSPLLMILS QLLPQQRHGE
460 470 480 490 500
RTPYVLRCLT EVALCQDKRS NLESSQKSDL LKLWNKIWCI TFRGISSEQI
510 520 530 540 550
QAENFGLLGA IIQGSLVEVD REFWKLFTGS ACRPSCPAVC CLTLALTTSI
560 570 580 590 600
VPGTVKMGIE QNMCEVNRSF SLKESIMKWL LFYQLEGDLE NSTEVPPILH
610 620 630 640 650
SNFPHLVLEK ILVSLTMKNC KAAMNFFQSV PECEHHQKDK EELSFSEVEE
660 670 680 690 700
LFLQTTFDKM DFLTIVRECG IEKHQSSIGF SVHQNLKESL DRCLLGLSEQ
710 720 730 740 750
LLNNYSSEIT NSETLVRCSR LLVGVLGCYC YMGVIAEEEA YKSELFQKAK
760 770 780 790 800
SLMQCAGESI TLFKNKTNEE FRIGSLRNMM QLCTRCLSNC TKKSPNKIAS
810 820 830 840 850
GFFLRLLTSK LMNDIADICK SLASFIKKPF DRGEVESMED DTNGNLMEVE
860 870 880 890 900
DQSSMNLFND YPDSSVSDAN EPGESQSTIG AINPLAEEYL SKQDLLFLDM
910 920 930 940 950
LKFLCLCVTT AQTNTVSFRA ADIRRKLLML IDSSTLEPTK SLHLHMYLML
960 970 980 990 1000
LKELPGEEYP LPMEDVLELL KPLSNVCSLY RRDQDVCKTI LNHVLHVVKN
1010 1020 1030 1040 1050
LGQSNMDSEN TRDAQGQFLT VIGAFWHLTK ERKYIFSVRM ALVNCLKTLL
1060 1070 1080 1090 1100
EADPYSKWAI LNVMGKDFPV NEVFTQFLAD NHHQVRMLAA ESINRLFQDT
1110 1120 1130 1140 1150
KGDSSRLLKA LPLKLQQTAF ENAYLKAQEG MREMSHSAEN PETLDEIYNR
1160 1170 1180 1190 1200
KSVLLTLIAV VLSCSPICEK QALFALCKSV KENGLEPHLV KKVLEKVSET
1210 1220 1230 1240 1250
FGYRRLEDFM ASHLDYLVLE WLNLQDTEYN LSSFPFILLN YTNIEDFYRS
1260 1270 1280 1290 1300
CYKVLIPHLV IRSHFDEVKS IANQIQEDWK SLLTDCFPKI LVNILPYFAY
1310 1320 1330 1340 1350
EGTRDSGMAQ QRETATKVYD MLKSENLLGK QIDHLFISNL PEIVVELLMT
1360 1370 1380 1390 1400
LHEPANSSAS QSTDLCDFSG DLDPAPNPPH FPSHVIKATF AYISNCHKTK
1410 1420 1430 1440 1450
LKSILEILSK SPDSYQKILL AICEQAAETN NVYKKHRILK IYHLFVSLLL
1460 1470 1480 1490 1500
KDIKSGLGGA WAFVLRDVIY TLIHYINQRP SCIMDVSLRS FSLCCDLLSQ
1510 1520 1530 1540 1550
VCQTAVTYCK DALENHLHVI VGTLIPLVYE QVEVQKQVLD LLKYLVIDNK
1560 1570 1580 1590 1600
DNENLYITIK LLDPFPDHVV FKDLRITQQK IKYSRGPFSL LEEINHFLSV
1610 1620 1630 1640 1650
SVYDALPLTR LEGLKDLRRQ LELHKDQMVD IMRASQDNPQ DGIMVKLVVN
1660 1670 1680 1690 1700
LLQLSKMAIN HTGEKEVLEA VGSCLGEVGP IDFSTIAIQH SKDASYTKAL
1710 1720 1730 1740 1750
KLFEDKELQW TFIMLTYLNN TLVEDCVKVR SAAVTCLKNI LATKTGHSFW
1760 1770 1780 1790 1800
EIYKMTTDPM LAYLQPFRTS RKKFLEVPRF DKENPFEGLD DINLWIPLSE
1810 1820 1830 1840 1850
NHDIWIKTLT CAFLDSGGTK CEILQLLKPM CEVKTDFCQT VLPYLIHDIL
1860 1870 1880 1890 1900
LQDTNESWRN LLSTHVQGFF TSCLRHFSQT SRSTTPANLD SESEHFFRCC
1910 1920 1930 1940 1950
LDKKSQRTML AVVDYMRRQK RPSSGTIFND AFWLDLNYLE VAKVAQSCAA
1960 1970 1980 1990 2000
HFTALLYAEI YADKKSMDDQ EKRSLAFEEG SQSTTISSLS EKSKEETGIS
2010 2020 2030 2040 2050
LQDLLLEIYR SIGEPDSLYG CGGGKMLQPI TRLRTYEHEA MWGKALVTYD
2060 2070 2080 2090 2100
LETAIPSSTR QAGIIQALQN LGLCHILSVY LKGLDYENKD WCPELEELHY
2110 2120 2130 2140 2150
QAAWRNMQWD HCTSVSKEVE GTSYHESLYN ALQSLRDREF STFYESLKYA
2160 2170 2180 2190 2200
RVKEVEEMCK RSLESVYSLY PTLSRLQAIG ELESIGELFS RSVTHRQLSE
2210 2220 2230 2240 2250
VYIKWQKHSQ LLKDSDFSFQ EPIMALRTVI LEILMEKEMD NSQRECIKDI
2260 2270 2280 2290 2300
LTKHLVELSI LARTFKNTQL PERAIFQIKQ YNSVSCGVSE WQLEEAQVFW
2310 2320 2330 2340 2350
AKKEQSLALS ILKQMIKKLD ASCAANNPSL KLTYTECLRV CGNWLAETCL
2360 2370 2380 2390 2400
ENPAVIMQTY LEKAVEVAGN YDGESSDELR NGKMKAFLSL ARFSDTQYQR
2410 2420 2430 2440 2450
IENYMKSSEF ENKQALLKRA KEEVGLLREH KIQTNRYTVK VQRELELDEL
2460 2470 2480 2490 2500
ALRALKEDRK RFLCKAVENY INCLLSGEEH DMWVFRLCSL WLENSGVSEV
2510 2520 2530 2540 2550
NGMMKRDGMK IPTYKFLPLM YQLAARMGTK MMGGLGFHEV LNNLISRISM
2560 2570 2580 2590 2600
DHPHHTLFII LALANANRDE FLTKPEVARR SRITKNVPKQ SSQLDEDRTE
2610 2620 2630 2640 2650
AANRIICTIR SRRPQMVRSV EALCDAYIIL ANLDATQWKT QRKGINIPAD
2660 2670 2680 2690 2700
QPITKLKNLE DVVVPTMEIK VDHTGEYGNL VTIQSFKAEF RLAGGVNLPK
2710 2720 2730 2740 2750
IIDCVGSDGK ERRQLVKGRD DLRQDAVMQQ VFQMCNTLLQ RNTETRKRKL
2760 2770 2780 2790 2800
TICTYKVVPL SQRSGVLEWC TGTVPIGEFL VNNEDGAHKR YRPNDFSAFQ
2810 2820 2830 2840 2850
CQKKMMEVQK KSFEEKYEVF MDVCQNFQPV FRYFCMEKFL DPAIWFEKRL
2860 2870 2880 2890 2900
AYTRSVATSS IVGYILGLGD RHVQNILINE QSAELVHIDL GVAFEQGKIL
2910 2920 2930 2940 2950
PTPETVPFRL TRDIVDGMGI TGVEGVFRRC CEKTMEVMRN SQETLLTIVE
2960 2970 2980 2990 3000
VLLYDPLFDW TMNPLKALYL QQRPEDETEL HPTLNADDQE CKRNLSDIDQ
3010 3020 3030 3040 3050
SFNKVAERVL MRLQEKLKGV EEGTVLSVGG QVNLLIQQAI DPKNLSRLFP
GWKAWV
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE9PIN0 | E9PIN0_HUMAN | Serine-protein kinase ATM | ATM | 1,545 | Annotation score: | ||
A0A6Q8PH76 | A0A6Q8PH76_HUMAN | Serine-protein kinase ATM | ATM | 1,545 | Annotation score: | ||
E9PRG7 | E9PRG7_HUMAN | Serine-protein kinase ATM | ATM | 93 | Annotation score: | ||
M0QXY8 | M0QXY8_HUMAN | Serine-protein kinase ATM | ATM | 135 | Annotation score: | ||
Q6P7P1 | Q6P7P1_HUMAN | ATM protein | ATM | 112 | Annotation score: | ||
A0A087X0E9 | A0A087X0E9_HUMAN | Serine-protein kinase ATM | ATM | 168 | Annotation score: | ||
H0YDU7 | H0YDU7_HUMAN | Serine-protein kinase ATM | ATM | 155 | Annotation score: | ||
H0YEC6 | H0YEC6_HUMAN | Serine-protein kinase ATM | ATM | 77 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 46 | H → N in CAA62603 (PubMed:8789452).Curated | 1 | |
Sequence conflicti | 56 | N → I in CAA62603 (PubMed:8789452).Curated | 1 | |
Sequence conflicti | 313 | Y → N in CAA62603 (PubMed:8789452).Curated | 1 | |
Sequence conflicti | 488 | W → G in CAA62603 (PubMed:8789452).Curated | 1 | |
Sequence conflicti | 554 | T → A in AAC50289 (PubMed:8589678).Curated | 1 | |
Sequence conflicti | 750 | K → N in AAC50289 (PubMed:8589678).Curated | 1 | |
Sequence conflicti | 754 | Q → K in CAA62603 (PubMed:8789452).Curated | 1 | |
Sequence conflicti | 887 | E → G in CAA62603 (PubMed:8789452).Curated | 1 | |
Sequence conflicti | 1003 | Q → L in CAA62603 (PubMed:8789452).Curated | 1 | |
Sequence conflicti | 1049 | L → W in CAA62603 (PubMed:8789452).Curated | 1 | |
Sequence conflicti | 1089 | A → V in CAA62603 (PubMed:8789452).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_041545 | 23 | R → Q in a colorectal adenocarcinoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs587779858EnsemblClinVar. | 1 | |
Natural variantiVAR_056678 | 45 | R → W Found in a patient with breast cancer; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs3218684EnsemblClinVar. | 1 | |
Natural variantiVAR_010798 | 49 | S → C7 PublicationsCorresponds to variant dbSNP:rs1800054EnsemblClinVar. | 1 | |
Natural variantiVAR_083373 | 68 | I → V Found in a patient with familial pancreatic cancer; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_010799 | 126 | D → E2 PublicationsCorresponds to variant dbSNP:rs2234997EnsemblClinVar. | 1 | |
Natural variantiVAR_041546 | 140 | D → H1 PublicationCorresponds to variant dbSNP:rs55633650EnsemblClinVar. | 1 | |
Natural variantiVAR_010800 | 182 | V → L1 PublicationCorresponds to variant dbSNP:rs3218707EnsemblClinVar. | 1 | |
Natural variantiVAR_010801 | 224 | K → E in AT; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs145053092EnsemblClinVar. | 1 | |
Natural variantiVAR_041547 | 250 | R → Q1 PublicationCorresponds to variant dbSNP:rs56123940EnsemblClinVar. | 1 | |
Natural variantiVAR_010802 | 292 | P → L in AT; associated with lymphoma; decreased phosphorylation of target proteins. 2 PublicationsCorresponds to variant dbSNP:rs747727055EnsemblClinVar. | 1 | |
Natural variantiVAR_010803 | 323 | I → V in AT; loss of protein expression. 2 PublicationsCorresponds to variant dbSNP:rs587781511EnsemblClinVar. | 1 | |
Natural variantiVAR_010804 | 332 | Y → C in B-cell chronic lymphocytic leukemia. 1 Publication | 1 | |
Natural variantiVAR_041548 | 333 | S → F1 PublicationCorresponds to variant dbSNP:rs28904919EnsemblClinVar. | 1 | |
Natural variantiVAR_041549 | 337 | R → C in a colorectal adenocarcinoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs138398778EnsemblClinVar. | 1 | |
Natural variantiVAR_041550 | 337 | R → H in a colorectal adenocarcinoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs202160435EnsemblClinVar. | 1 | |
Natural variantiVAR_083374 | 341 | V → I Found in a patient with familial pancreatic cancer; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_010805 | 350 | A → T in B-cell chronic lymphocytic leukemia. 1 PublicationCorresponds to variant dbSNP:rs371713984EnsemblClinVar. | 1 | |
Natural variantiVAR_010806 | 352 | I → T in B-cell chronic lymphocytic leukemia. 1 PublicationCorresponds to variant dbSNP:rs369203092EnsemblClinVar. | 1 | |
Natural variantiVAR_041551 | 410 | V → A1 PublicationCorresponds to variant dbSNP:rs56128736EnsemblClinVar. | 1 | |
Natural variantiVAR_041552 | 504 | N → S1 PublicationCorresponds to variant dbSNP:rs56365018EnsemblClinVar. | 1 | |
Natural variantiVAR_010807 | 514 | G → D2 PublicationsCorresponds to variant dbSNP:rs2235000EnsemblClinVar. | 1 | |
Natural variantiVAR_041553 | 540 | C → Y in a colorectal adenocarcinoma sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_041554 | 546 | L → V No effect on phosphorylation of target proteins. 2 PublicationsCorresponds to variant dbSNP:rs2227924EnsemblClinVar. | 1 | |
Natural variantiVAR_010808 | 570 | F → S in AT. 1 PublicationCorresponds to variant dbSNP:rs777301065EnsemblClinVar. | 1 | |
Natural variantiVAR_041555 | 582 | F → L1 PublicationCorresponds to variant dbSNP:rs2235006EnsemblClinVar. | 1 | |
Natural variantiVAR_083375 | 597 | P → L Found in a patient with familial pancreatic cancer; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_083376 | 661 | D → A Found in a patient with familial breast cancer; unknown pathological significance. 1 Publication | 1 | |
Natural varianti |