Details for: ATM

Gene ID: 472

Symbol: ATM

Ensembl ID: ENSG00000149311

Description: ATM serine/threonine kinase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 396.0263
    Cell Significance Index: -61.6000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 239.1547
    Cell Significance Index: -60.6600
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 147.3974
    Cell Significance Index: -60.7200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 138.4714
    Cell Significance Index: -56.2600
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 123.7594
    Cell Significance Index: -63.6600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 59.2201
    Cell Significance Index: -56.5400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 51.0237
    Cell Significance Index: -62.9100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 21.6846
    Cell Significance Index: -58.0900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 21.0181
    Cell Significance Index: -46.0000
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 19.1603
    Cell Significance Index: -58.8500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 16.1250
    Cell Significance Index: -63.6300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.8621
    Cell Significance Index: 104.4900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.8603
    Cell Significance Index: 373.1700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.8527
    Cell Significance Index: 183.2800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.7580
    Cell Significance Index: 348.8800
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.4448
    Cell Significance Index: 17.9200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 1.4203
    Cell Significance Index: 27.7200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.2816
    Cell Significance Index: 459.6900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.2283
    Cell Significance Index: 94.2600
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 1.2156
    Cell Significance Index: 9.3700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.0092
    Cell Significance Index: 119.0100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.9916
    Cell Significance Index: 60.9500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.8530
    Cell Significance Index: 55.0300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.8286
    Cell Significance Index: 573.0700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.8220
    Cell Significance Index: 36.3600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.7576
    Cell Significance Index: 28.6900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.7344
    Cell Significance Index: 100.8600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.6132
    Cell Significance Index: 110.5400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.4703
    Cell Significance Index: 31.6200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4372
    Cell Significance Index: 394.7600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.3327
    Cell Significance Index: 626.4800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.3240
    Cell Significance Index: 597.4600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.3161
    Cell Significance Index: 486.5800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3017
    Cell Significance Index: 164.7800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.2124
    Cell Significance Index: 3.6400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2113
    Cell Significance Index: 25.9800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.1968
    Cell Significance Index: 4.7200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.1959
    Cell Significance Index: 88.9100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1867
    Cell Significance Index: 118.5900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1826
    Cell Significance Index: 80.7200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1602
    Cell Significance Index: 26.0500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1360
    Cell Significance Index: 6.3400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.1230
    Cell Significance Index: 167.2600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0804
    Cell Significance Index: 10.3100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0559
    Cell Significance Index: 3.5300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0513
    Cell Significance Index: 8.7600
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.0174
    Cell Significance Index: 0.2500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0075
    Cell Significance Index: 0.3900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0273
    Cell Significance Index: -20.2400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0319
    Cell Significance Index: -4.6300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0416
    Cell Significance Index: -25.9700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0440
    Cell Significance Index: -1.2300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0458
    Cell Significance Index: -33.5600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: -0.0497
    Cell Significance Index: -9.4600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0735
    Cell Significance Index: -55.6500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0790
    Cell Significance Index: -44.5600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1234
    Cell Significance Index: -12.6100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1529
    Cell Significance Index: -32.2000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1931
    Cell Significance Index: -55.5500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.2042
    Cell Significance Index: -14.1200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2639
    Cell Significance Index: -30.7500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2704
    Cell Significance Index: -7.2500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2952
    Cell Significance Index: -13.8800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.3096
    Cell Significance Index: -10.8800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3284
    Cell Significance Index: -17.2400
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.3653
    Cell Significance Index: -4.3600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.3963
    Cell Significance Index: -51.2100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4018
    Cell Significance Index: -41.8300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.4116
    Cell Significance Index: -47.1500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.4142
    Cell Significance Index: -18.7800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.4849
    Cell Significance Index: -12.1200
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.5109
    Cell Significance Index: -58.3200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.5538
    Cell Significance Index: -39.1700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.5576
    Cell Significance Index: -16.0700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.5715
    Cell Significance Index: -15.2600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.6254
    Cell Significance Index: -13.3200
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.6408
    Cell Significance Index: -9.4600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.6416
    Cell Significance Index: -13.3100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.6904
    Cell Significance Index: -51.4600
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.6956
    Cell Significance Index: -19.8500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.7267
    Cell Significance Index: -37.7500
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.7329
    Cell Significance Index: -15.6700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.7427
    Cell Significance Index: -58.8200
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.7427
    Cell Significance Index: -17.1600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.7920
    Cell Significance Index: -25.3700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.8825
    Cell Significance Index: -14.7700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.9241
    Cell Significance Index: -26.4900
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.9263
    Cell Significance Index: -17.1200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.9367
    Cell Significance Index: -57.4300
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.9455
    Cell Significance Index: -11.7900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.9945
    Cell Significance Index: -26.1500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -1.0253
    Cell Significance Index: -21.7600
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -1.0623
    Cell Significance Index: -31.2000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -1.1187
    Cell Significance Index: -28.7600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -1.1622
    Cell Significance Index: -37.0200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -1.1663
    Cell Significance Index: -38.1900
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -1.1825
    Cell Significance Index: -19.9200
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -1.2019
    Cell Significance Index: -15.1700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -1.2532
    Cell Significance Index: -27.4400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -1.2587
    Cell Significance Index: -43.7400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Serine/threonine kinase activity**: ATM is a protein kinase that phosphorylates and activates downstream targets, leading to the activation of DNA repair pathways. 2. **DNA damage response**: ATM is a key player in the DDR network, which includes proteins such as p53, ATM-interacting protein 1 (ATMIP), and MRN complex (Mre11/Rad50/Nbs1). 3. **Homologous recombination repair**: ATM is involved in the regulation of homologous recombination repair (HRR), a process that repairs DSBs through the exchange of DNA segments between homologous chromosomes. 4. **Non-homologous end joining**: ATM also regulates non-homologous end joining (NHEJ), another pathway for DSB repair. 5. **Cell cycle checkpoint signaling**: ATM activates cell cycle checkpoint pathways, which halt the cell cycle to allow for DNA repair or induce apoptosis if the damage is irreparable. **Pathways and Functions** The ATM gene is involved in various cellular processes, including: 1. **DNA damage response**: ATM regulates the activation of DNA repair pathways, including HRR and NHEJ. 2. **Cell cycle regulation**: ATM activates cell cycle checkpoint pathways to ensure accurate DNA repair or apoptosis. 3. **Apoptosis regulation**: ATM can induce apoptosis in response to severe DNA damage. 4. **Genomic stability maintenance**: ATM ensures the accurate repair of DSBs to maintain genomic stability. 5. **Telomere maintenance**: ATM regulates telomere length and stability. **Clinical Significance** Mutations in the ATM gene have been associated with: 1. **Ataxia-telangiectasia**: a rare genetic disorder characterized by impaired DNA repair, increased cancer risk, and premature aging. 2. **Cancer**: ATM mutations have been linked to an increased risk of various cancers, including breast, ovarian, and colorectal cancer. 3. **Neurological disorders**: ATM mutations have been associated with neurological disorders, such as ataxia, leukodystrophy, and neurodegenerative diseases. 4. **Genomic instability**: ATM mutations can lead to genomic instability, which increases the risk of cancer and other diseases. In summary, the ATM gene plays a critical role in maintaining genomic stability by regulating DNA damage response pathways. Mutations in the ATM gene have been associated with various clinical disorders, including ataxia-telangiectasia, cancer, and neurological disorders.

Genular Protein ID: 3847084435

Symbol: ATM_HUMAN

Name: Serine-protein kinase ATM

UniProtKB Accession Codes:

Q13315 B2RNX5 O15429 Q12758 Q16551 Q93007 Q9NP02 Q9UCX7

Database IDs:

AGR 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CPTAC 13 CPTC 1 CTD 1 ChEBI 10 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 2 EMBL 96 EMDB 13 Ensembl 3 ExpressionAtlas 1 GO 90 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 11 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 7 OrthoDB 1 PANTHER 2 PDB 14 PDBsum 14 PIR 1 PRO 1 PROSITE 5 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 28 RefSeq 8 Rhea 7 SIGNOR 1 SMART 3 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8589678

Title: The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species.

PubMed ID: 8589678

DOI: 10.1093/hmg/4.11.2025

PubMed ID: 8665503

Title: The ATM gene and susceptibility to breast cancer: analysis of 38 breast tumors reveals no evidence for mutation.

PubMed ID: 8665503

PubMed ID: 9199932

Title: Ataxia-telangiectasia locus: sequence analysis of 184 kb of human genomic DNA containing the entire ATM gene.

PubMed ID: 9199932

DOI: 10.1101/gr.7.6.592

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 8789452

Title: Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia.

PubMed ID: 8789452

DOI: 10.1093/hmg/5.1.145

PubMed ID: 9108147

Title: Ataxia-telangiectasia: structural diversity of untranslated sequences suggests complex post-transcriptional regulation of ATM gene expression.

PubMed ID: 9108147

DOI: 10.1093/nar/25.9.1678

PubMed ID: 7792600

Title: A single ataxia telangiectasia gene with a product similar to PI-3 kinase.

PubMed ID: 7792600

DOI: 10.1126/science.7792600

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8521392

Title: Genomic organization of the ATM locus involved in ataxia-telangiectasia.

PubMed ID: 8521392

PubMed ID: 8969240

Title: The product of the ATM gene is a 370-kDa nuclear phosphoprotein.

PubMed ID: 8969240

DOI: 10.1074/jbc.271.52.33693

PubMed ID: 9050866

Title: The ataxia-telangiectasia gene product, a constitutively expressed nuclear protein that is not up-regulated following genome damage.

PubMed ID: 9050866

DOI: 10.1073/pnas.94.5.1840

PubMed ID: 9150358

Title: Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms.

PubMed ID: 9150358

DOI: 10.1038/sj.onc.1201037

PubMed ID: 8988033

Title: ATM gene product phosphorylates I kappa B-alpha.

PubMed ID: 8988033

PubMed ID: 9168117

Title: Interaction between ATM protein and c-Abl in response to DNA damage.

PubMed ID: 9168117

DOI: 10.1038/387520a0

PubMed ID: 9766667

Title: Inhibition of phosphoinositide 3-kinase related kinases by the radiosensitizing agent wortmannin.

PubMed ID: 9766667

PubMed ID: 9843217

Title: ATM associates with and phosphorylates p53: mapping the region of interaction.

PubMed ID: 9843217

DOI: 10.1038/3882

PubMed ID: 9707615

Title: ATM binds to beta-adaptin in cytoplasmic vesicles.

PubMed ID: 9707615

DOI: 10.1073/pnas.95.17.10146

PubMed ID: 9733514

Title: Enhanced phosphorylation of p53 by ATM in response to DNA damage.

PubMed ID: 9733514

DOI: 10.1126/science.281.5383.1674

PubMed ID: 9733515

Title: Activation of the ATM kinase by ionizing radiation and phosphorylation of p53.

PubMed ID: 9733515

DOI: 10.1126/science.281.5383.1677

PubMed ID: 10500142

Title: Purification and DNA binding properties of the ataxia-telangiectasia gene product ATM.

PubMed ID: 10500142

DOI: 10.1073/pnas.96.20.11134

PubMed ID: 10550055

Title: Requirement of ATM-dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks.

PubMed ID: 10550055

DOI: 10.1126/science.286.5442.1162

PubMed ID: 10783165

Title: BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures.

PubMed ID: 10783165

PubMed ID: 10766245

Title: ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway.

PubMed ID: 10766245

DOI: 10.1038/35007091

PubMed ID: 10839545

Title: ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response.

PubMed ID: 10839545

DOI: 10.1038/35013089

PubMed ID: 10910365

Title: Functional link of BRCA1 and ataxia telangiectasia gene product in DNA damage response.

PubMed ID: 10910365

DOI: 10.1038/35018134

PubMed ID: 10802669

Title: ATM-dependent phosphorylation of nibrin in response to radiation exposure.

PubMed ID: 10802669

DOI: 10.1038/75508

PubMed ID: 10973490

Title: Ataxia telangiectasia-mutated phosphorylates Chk2 in vivo and in vitro.

PubMed ID: 10973490

DOI: 10.1073/pnas.190030497

PubMed ID: 11375976

Title: Telomeric protein Pin2/TRF1 as an important ATM target in response to double strand DNA breaks.

PubMed ID: 11375976

DOI: 10.1074/jbc.m011534200

PubMed ID: 11418864

Title: ATR/ATM-mediated phosphorylation of human Rad17 is required for genotoxic stress responses.

PubMed ID: 11418864

DOI: 10.1038/35082110

PubMed ID: 12086603

Title: Convergence of the Fanconi anemia and ataxia telangiectasia signaling pathways.

PubMed ID: 12086603

DOI: 10.1016/s0092-8674(02)00747-x

PubMed ID: 12409306

Title: Identification of a novel protein kinase mediating Akt survival signaling to the ATM protein.

PubMed ID: 12409306

DOI: 10.1074/jbc.m206025200

PubMed ID: 12556884

Title: DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation.

PubMed ID: 12556884

DOI: 10.1038/nature01368

PubMed ID: 14871926

Title: Requirement of protein phosphatase 5 in DNA-damage-induced ATM activation.

PubMed ID: 14871926

DOI: 10.1101/gad.1176004

PubMed ID: 15456891

Title: Artemis is a phosphorylation target of ATM and ATR and is involved in the G2/M DNA damage checkpoint response.

PubMed ID: 15456891

DOI: 10.1128/mcb.24.20.9207-9220.2004

PubMed ID: 15448695

Title: A new effector pathway links ATM kinase with the DNA damage response.

PubMed ID: 15448695

DOI: 10.1038/ncb1170

PubMed ID: 15064416

Title: Direct activation of the ATM protein kinase by the Mre11/Rad50/Nbs1 complex.

PubMed ID: 15064416

DOI: 10.1126/science.1091496

PubMed ID: 15680327

Title: The haploinsufficient tumor suppressor p18 upregulates p53 via interactions with ATM/ATR.

PubMed ID: 15680327

DOI: 10.1016/j.cell.2004.11.054

PubMed ID: 15916964

Title: ATM-dependent phosphorylation of ATF2 is required for the DNA damage response.

PubMed ID: 15916964

DOI: 10.1016/j.molcel.2005.04.015

PubMed ID: 15923642

Title: Involvement of human MOF in ATM function.

PubMed ID: 15923642

DOI: 10.1128/mcb.25.12.5292-5305.2005

PubMed ID: 16086026

Title: Regulated degradation of replication-dependent histone mRNAs requires both ATR and Upf1.

PubMed ID: 16086026

DOI: 10.1038/nsmb972

PubMed ID: 16141325

Title: A role for the Tip60 histone acetyltransferase in the acetylation and activation of ATM.

PubMed ID: 16141325

DOI: 10.1073/pnas.0504211102

PubMed ID: 15790808

Title: ATM activation by DNA double-strand breaks through the Mre11-Rad50-Nbs1 complex.

PubMed ID: 15790808

DOI: 10.1126/science.1108297

PubMed ID: 16858402

Title: Involvement of novel autophosphorylation sites in ATM activation.

PubMed ID: 16858402

DOI: 10.1038/sj.emboj.7601231

PubMed ID: 17525732

Title: ATMIN defines an NBS1-independent pathway of ATM signalling.

PubMed ID: 17525732

DOI: 10.1038/sj.emboj.7601733

PubMed ID: 17923702

Title: DNA damage-induced acetylation of lysine 3016 of ATM activates ATM kinase activity.

PubMed ID: 17923702

DOI: 10.1128/mcb.01382-07

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 18283122

Title: Cep164 is a mediator protein required for the maintenance of genomic stability through modulation of MDC1, RPA, and CHK1.

PubMed ID: 18283122

DOI: 10.1101/gad.1627708

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 18449195

Title: Single-stranded DNA-binding protein hSSB1 is critical for genomic stability.

PubMed ID: 18449195

DOI: 10.1038/nature06883

PubMed ID: 18710941

Title: A role for DEAD box 1 at DNA double-strand breaks.

PubMed ID: 18710941

DOI: 10.1128/mcb.01053-08

PubMed ID: 19369195

Title: Large-scale proteomics analysis of the human kinome.

PubMed ID: 19369195

DOI: 10.1074/mcp.m800588-mcp200

PubMed ID: 19965871

Title: ATM augments nuclear stabilization of DYRK2 by inhibiting MDM2 in the apoptotic response to DNA damage.

PubMed ID: 19965871

DOI: 10.1074/jbc.m109.042341

PubMed ID: 20810650

Title: A genetic screen identifies the Triple T complex required for DNA damage signaling and ATM and ATR stability.

PubMed ID: 20810650

DOI: 10.1101/gad.1934210

PubMed ID: 20801936

Title: Tel2 structure and function in the Hsp90-dependent maturation of mTOR and ATR complexes.

PubMed ID: 20801936

DOI: 10.1101/gad.1956410

PubMed ID: 20427287

Title: Tti1 and Tel2 are critical factors in mammalian target of rapamycin complex assembly.

PubMed ID: 20427287

DOI: 10.1074/jbc.m110.121699

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21144835

Title: Protein phosphatase 5 is necessary for ATR-mediated DNA repair.

PubMed ID: 21144835

DOI: 10.1016/j.bbrc.2010.12.005

PubMed ID: 22977523

Title: Functional interaction of BRCA1/ATM-associated BAAT1 with the DNA-PK catalytic subunit.

PubMed ID: 22977523

DOI: 10.3892/etm.2011.232

PubMed ID: 21757780

Title: ATM protein-dependent phosphorylation of Rad50 protein regulates DNA repair and cell cycle control.

PubMed ID: 21757780

DOI: 10.1074/jbc.m111.258152

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24534091

Title: Rad17 recruits the MRE11-RAD50-NBS1 complex to regulate the cellular response to DNA double-strand breaks.

PubMed ID: 24534091

DOI: 10.1002/embj.201386064

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 26344566

Title: ATM functions at the peroxisome to induce pexophagy in response to ROS.

PubMed ID: 26344566

DOI: 10.1038/ncb3230

PubMed ID: 26240375

Title: ATM-dependent phosphorylation of MRE11 controls extent of resection during homology directed repair by signalling through Exonuclease 1.

PubMed ID: 26240375

DOI: 10.1093/nar/gkv754

PubMed ID: 26774286

Title: FBXW7 facilitates nonhomologous end-joining via K63-linked polyubiquitylation of XRCC4.

PubMed ID: 26774286

DOI: 10.1016/j.molcel.2015.12.010

PubMed ID: 29203878

Title: ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice.

PubMed ID: 29203878

DOI: 10.1038/s41467-017-02114-x

PubMed ID: 30612738

Title: UBQLN4 represses homologous recombination and is overexpressed in aggressive tumors.

PubMed ID: 30612738

DOI: 10.1016/j.cell.2018.11.024

PubMed ID: 30886146

Title: UFL1 promotes histone H4 ufmylation and ATM activation.

PubMed ID: 30886146

DOI: 10.1038/s41467-019-09175-0

PubMed ID: 30952868

Title: Pellino1 regulates reversible ATM activation via NBS1 ubiquitination at DNA double-strand breaks.

PubMed ID: 30952868

DOI: 10.1038/s41467-019-09641-9

PubMed ID: 30944854

Title: SIRT7-mediated ATM deacetylation is essential for its deactivation and DNA damage repair.

PubMed ID: 30944854

DOI: 10.1126/sciadv.aav1118

PubMed ID: 38128537

Title: Metabolic regulation of homologous recombination repair by MRE11 lactylation.

PubMed ID: 38128537

DOI: 10.1016/j.cell.2023.11.022

PubMed ID: 28508083

Title: Structures of closed and open conformations of dimeric human ATM.

PubMed ID: 28508083

DOI: 10.1126/sciadv.1700933

PubMed ID: 35076389

Title: Structure of the human ATM kinase and mechanism of Nbs1 binding.

PubMed ID: 35076389

DOI: 10.7554/elife.74218

PubMed ID: 8755918

Title: Mutations associated with variant phenotypes in ataxia-telangiectasia.

PubMed ID: 8755918

PubMed ID: 8808599

Title: A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.

PubMed ID: 8808599

PubMed ID: 8797579

Title: ATM mutations in cancer families.

PubMed ID: 8797579

PubMed ID: 9043869

Title: Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia.

PubMed ID: 9043869

DOI: 10.1159/000472231

PubMed ID: 8698354

Title: New mutations in the ataxia telangiectasia gene.

PubMed ID: 8698354

DOI: 10.1007/s004390050202

PubMed ID: 8845835

Title: Predominance of null mutations in ataxia-telangiectasia.

PubMed ID: 8845835

DOI: 10.1093/hmg/5.4.433

PubMed ID: 9288106

Title: Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia.

PubMed ID: 9288106

DOI: 10.1038/ng0997-96

PubMed ID: 9334731

Title: Biallelic mutations in the ATM gene in T-prolymphocytic leukemia.

PubMed ID: 9334731

DOI: 10.1038/nm1097-1155

PubMed ID: 9443866

Title: Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.

PubMed ID: 9443866

DOI: 10.1086/301673

PubMed ID: 9463314

Title: ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.

PubMed ID: 9463314

DOI: 10.1086/301706

PubMed ID: 9497252

Title: Genotype-phenotype relationships in ataxia-telangiectasia and variants.

PubMed ID: 9497252

DOI: 10.1086/301755

PubMed ID: 9450874

Title: Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain.

PubMed ID: 9450874

DOI: 10.1002/(sici)1096-8628(19980113)75:2<141::aid-ajmg4>3.3.co;2-8

PubMed ID: 9573030

Title: Inactivation of the ATM gene in T-cell prolymphocytic leukemias.

PubMed ID: 9573030

PubMed ID: 9872980

Title: Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.

PubMed ID: 9872980

DOI: 10.1101/gr.8.12.1245

PubMed ID: 9521587

Title: A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia.

PubMed ID: 9521587

DOI: 10.1007/s004390050675

PubMed ID: 9711876

Title: ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy.

PubMed ID: 9711876

DOI: 10.1002/(sici)1098-1004(1998)12:3<186::aid-humu6>3.0.co;2-f

PubMed ID: 9792409

Title: ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population.

PubMed ID: 9792409

DOI: 10.1002/(sici)1098-1004(1998)12:5<330::aid-humu6>3.0.co;2-h

PubMed ID: 9792410

Title: Ataxia-telangiectasia in the Japanese population: identification of R1917X, W2491R, R2909G, IVS33+2T-->A, and 7883del5, the latter two being relatively common mutations.

PubMed ID: 9792410

DOI: 10.1002/(sici)1098-1004(1998)12:5<338::aid-humu7>3.0.co;2-9

PubMed ID: 9488043

Title: ATM is usually rearranged in T-cell prolymphocytic leukaemia.

PubMed ID: 9488043

DOI: 10.1038/sj.onc.1201603

PubMed ID: 10397742

Title: Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia.

PubMed ID: 10397742

PubMed ID: 9892178

Title: ATM mutations in B-cell chronic lymphocytic leukemia.

PubMed ID: 9892178

PubMed ID: 10234507

Title: Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations.

PubMed ID: 10234507

DOI: 10.1038/sj.ejhg.5200288

PubMed ID: 10534763

Title: Identification of germline missense mutations and rare allelic variants in the ATM gene in early-onset breast cancer.

PubMed ID: 10534763

DOI: 10.1002/(sici)1098-2264(199912)26:4<286::aid-gcc2>3.3.co;2-o

PubMed ID: 9887333

Title: Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

PubMed ID: 9887333

DOI: 10.1093/hmg/8.1.69

PubMed ID: 10425038

Title: New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.

PubMed ID: 10425038

DOI: 10.1002/(sici)1098-1004(1999)14:2<156::aid-humu7>3.0.co;2-e

PubMed ID: 10023947

Title: Inactivation of ataxia telangiectasia mutated gene in B-cell chronic lymphocytic leukaemia.

PubMed ID: 10023947

DOI: 10.1016/s0140-6736(98)10117-4

Sequence Information:

  • Length: 3056
  • Mass: 350687
  • Checksum: C0B4866E1E3199E2
  • Sequence:
    • MSLVLNDLLI CCRQLEHDRA TERKKEVEKF KRLIRDPETI KHLDRHSDSK QGKYLNWDAV 
FRFLQKYIQK ETECLRIAKP NVSASTQASR QKKMQEISSL VKYFIKCANR RAPRLKCQEL 
LNYIMDTVKD SSNGAIYGAD CSNILLKDIL SVRKYWCEIS QQQWLELFSV YFRLYLKPSQ 
DVHRVLVARI IHAVTKGCCS QTDGLNSKFL DFFSKAIQCA RQEKSSSGLN HILAALTIFL 
KTLAVNFRIR VCELGDEILP TLLYIWTQHR LNDSLKEVII ELFQLQIYIH HPKGAKTQEK 
GAYESTKWRS ILYNLYDLLV NEISHIGSRG KYSSGFRNIA VKENLIELMA DICHQVFNED 
TRSLEISQSY TTTQRESSDY SVPCKRKKIE LGWEVIKDHL QKSQNDFDLV PWLQIATQLI 
SKYPASLPNC ELSPLLMILS QLLPQQRHGE RTPYVLRCLT EVALCQDKRS NLESSQKSDL 
LKLWNKIWCI TFRGISSEQI QAENFGLLGA IIQGSLVEVD REFWKLFTGS ACRPSCPAVC 
CLTLALTTSI VPGTVKMGIE QNMCEVNRSF SLKESIMKWL LFYQLEGDLE NSTEVPPILH 
SNFPHLVLEK ILVSLTMKNC KAAMNFFQSV PECEHHQKDK EELSFSEVEE LFLQTTFDKM 
DFLTIVRECG IEKHQSSIGF SVHQNLKESL DRCLLGLSEQ LLNNYSSEIT NSETLVRCSR 
LLVGVLGCYC YMGVIAEEEA YKSELFQKAK SLMQCAGESI TLFKNKTNEE FRIGSLRNMM 
QLCTRCLSNC TKKSPNKIAS GFFLRLLTSK LMNDIADICK SLASFIKKPF DRGEVESMED 
DTNGNLMEVE DQSSMNLFND YPDSSVSDAN EPGESQSTIG AINPLAEEYL SKQDLLFLDM 
LKFLCLCVTT AQTNTVSFRA ADIRRKLLML IDSSTLEPTK SLHLHMYLML LKELPGEEYP 
LPMEDVLELL KPLSNVCSLY RRDQDVCKTI LNHVLHVVKN LGQSNMDSEN TRDAQGQFLT 
VIGAFWHLTK ERKYIFSVRM ALVNCLKTLL EADPYSKWAI LNVMGKDFPV NEVFTQFLAD 
NHHQVRMLAA ESINRLFQDT KGDSSRLLKA LPLKLQQTAF ENAYLKAQEG MREMSHSAEN 
PETLDEIYNR KSVLLTLIAV VLSCSPICEK QALFALCKSV KENGLEPHLV KKVLEKVSET 
FGYRRLEDFM ASHLDYLVLE WLNLQDTEYN LSSFPFILLN YTNIEDFYRS CYKVLIPHLV 
IRSHFDEVKS IANQIQEDWK SLLTDCFPKI LVNILPYFAY EGTRDSGMAQ QRETATKVYD 
MLKSENLLGK QIDHLFISNL PEIVVELLMT LHEPANSSAS QSTDLCDFSG DLDPAPNPPH 
FPSHVIKATF AYISNCHKTK LKSILEILSK SPDSYQKILL AICEQAAETN NVYKKHRILK 
IYHLFVSLLL KDIKSGLGGA WAFVLRDVIY TLIHYINQRP SCIMDVSLRS FSLCCDLLSQ 
VCQTAVTYCK DALENHLHVI VGTLIPLVYE QVEVQKQVLD LLKYLVIDNK DNENLYITIK 
LLDPFPDHVV FKDLRITQQK IKYSRGPFSL LEEINHFLSV SVYDALPLTR LEGLKDLRRQ 
LELHKDQMVD IMRASQDNPQ DGIMVKLVVN LLQLSKMAIN HTGEKEVLEA VGSCLGEVGP 
IDFSTIAIQH SKDASYTKAL KLFEDKELQW TFIMLTYLNN TLVEDCVKVR SAAVTCLKNI 
LATKTGHSFW EIYKMTTDPM LAYLQPFRTS RKKFLEVPRF DKENPFEGLD DINLWIPLSE 
NHDIWIKTLT CAFLDSGGTK CEILQLLKPM CEVKTDFCQT VLPYLIHDIL LQDTNESWRN 
LLSTHVQGFF TSCLRHFSQT SRSTTPANLD SESEHFFRCC LDKKSQRTML AVVDYMRRQK 
RPSSGTIFND AFWLDLNYLE VAKVAQSCAA HFTALLYAEI YADKKSMDDQ EKRSLAFEEG 
SQSTTISSLS EKSKEETGIS LQDLLLEIYR SIGEPDSLYG CGGGKMLQPI TRLRTYEHEA 
MWGKALVTYD LETAIPSSTR QAGIIQALQN LGLCHILSVY LKGLDYENKD WCPELEELHY 
QAAWRNMQWD HCTSVSKEVE GTSYHESLYN ALQSLRDREF STFYESLKYA RVKEVEEMCK 
RSLESVYSLY PTLSRLQAIG ELESIGELFS RSVTHRQLSE VYIKWQKHSQ LLKDSDFSFQ 
EPIMALRTVI LEILMEKEMD NSQRECIKDI LTKHLVELSI LARTFKNTQL PERAIFQIKQ 
YNSVSCGVSE WQLEEAQVFW AKKEQSLALS ILKQMIKKLD ASCAANNPSL KLTYTECLRV 
CGNWLAETCL ENPAVIMQTY LEKAVEVAGN YDGESSDELR NGKMKAFLSL ARFSDTQYQR 
IENYMKSSEF ENKQALLKRA KEEVGLLREH KIQTNRYTVK VQRELELDEL ALRALKEDRK 
RFLCKAVENY INCLLSGEEH DMWVFRLCSL WLENSGVSEV NGMMKRDGMK IPTYKFLPLM 
YQLAARMGTK MMGGLGFHEV LNNLISRISM DHPHHTLFII LALANANRDE FLTKPEVARR 
SRITKNVPKQ SSQLDEDRTE AANRIICTIR SRRPQMVRSV EALCDAYIIL ANLDATQWKT 
QRKGINIPAD QPITKLKNLE DVVVPTMEIK VDHTGEYGNL VTIQSFKAEF RLAGGVNLPK 
IIDCVGSDGK ERRQLVKGRD DLRQDAVMQQ VFQMCNTLLQ RNTETRKRKL TICTYKVVPL 
SQRSGVLEWC TGTVPIGEFL VNNEDGAHKR YRPNDFSAFQ CQKKMMEVQK KSFEEKYEVF 
MDVCQNFQPV FRYFCMEKFL DPAIWFEKRL AYTRSVATSS IVGYILGLGD RHVQNILINE 
QSAELVHIDL GVAFEQGKIL PTPETVPFRL TRDIVDGMGI TGVEGVFRRC CEKTMEVMRN 
SQETLLTIVE VLLYDPLFDW TMNPLKALYL QQRPEDETEL HPTLNADDQE CKRNLSDIDQ 
SFNKVAERVL MRLQEKLKGV EEGTVLSVGG QVNLLIQQAI DPKNLSRLFP GWKAWV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.