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ATM ataxia telangiectasia mutated [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_000051 Homo sapiens ataxia telangiectasia mutated (ATM), mRNA. Full Length Quote
ORF Sequence Quote


Gene Symbol ATM
Entrez Gene ID 472
Full Name ataxia telangiectasia mutated
Synonyms AT1, ATA, ATC, ATD, ATDC, ATE, DKFZp781A0353, MGC74674, TEL1, TELO1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

11

11q22-q23
Summary 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].
Disorder

MIM: 607585

Ataxia-telangiectasia, 208900 (3); Lymphoma, B-cell non-Hodgkin,
mRNA NM_000051, 71902539
Protein NP_000042, 71902540
Product serine-protein kinase ATM
RefSeq Status REVIEWED
KEGG
hsa04210Apoptosis
hsa04115p53 signaling pathway
hsa04110Cell cycle
WikiPathways
WP45G1 to S cell cycle control
WP179Cell cycle
WP1545miRNAs involved in DDR
WP34Ovarian Infertility Genes
Pathway Interaction Database
telomerasepathwayRegulation of Telomerase
nfkappabcanonicalpathwayCanonical NF-kappaB pathway
bard1pathwayBARD1 signaling events
e2f_pathwayE2F transcription factor network
p53regulationpathwayp53 pathway
p38_mkk3_6pathwayp38 MAPK signaling pathway
Reactome
REACT_1208p53-Independent G1/S DNA damage checkpoint
REACT_2054Double-Strand Break Repair
REACT_2254G1/S DNA Damage Checkpoints
REACT_1587Homologous recombination repair of replication-independent double-strand breaks
REACT_1614Ubiquitin Mediated Degradation of Phosphorylated Cdc25A
REACT_1924ATM mediated phosphorylation of repair proteins
REACT_20549Autodegradation of the E3 ubiquitin ligase COP1
REACT_1538Cell Cycle Checkpoints
REACT_1874Homologous Recombination Repair
REACT_216DNA Repair
REACT_18265Regulation of the Fanconi anemia pathway
REACT_309Stabilization of p53
REACT_897G2/M DNA damage checkpoint
REACT_2160p53-Independent DNA Damage Response
REACT_204ATM mediated response to DNA double-strand break
REACT_828G2/M Checkpoints
REACT_85p53-Dependent G1/S DNA damage checkpoint
REACT_1625p53-Dependent G1 DNA Damage Response
REACT_18410Fanconi Anemia pathway
REACT_97Recruitment of repair and signaling proteins to double-strand breaks
Homo sapiens (human)ATMNP_000042.3
Pan troglodytes (chimpanzee)ATMXP_001139487.1
Canis lupus familiaris (dog)ATMXP_862746.1
Bos taurus (cattle)ATMXP_605200.3
Mus musculus (house mouse)AtmNP_031525.1
Rattus norvegicus (Norway rat)AtmXP_236275.4
Gallus gallus (chicken)ATMXP_417160.2
Danio rerio (zebrafish)LOC100331343XP_002667249.1
Process
IDNameEvidence
GO:0000075cell cycle checkpointTAS
GO:0000724double-strand break repair via homologous recombinationTAS
GO:0001756somitogenesisIEA
GO:0002331pre-B cell allelic exclusionISS
GO:0006281DNA repairTAS
GO:0006302double-strand break repairTAS
GO:0006974response to DNA damage stimulusIMP
GO:0006975DNA damage induced protein phosphorylationIDA
GO:0006977DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestTAS
GO:0007049cell cycleIEA
GO:0007050cell cycle arrestIMP
GO:0007094mitotic cell cycle spindle assembly checkpointIMP
GO:0007131reciprocal meiotic recombinationTAS
GO:0007165signal transductionTAS
GO:0007292female gamete generationIEA
GO:0007420brain developmentIEA
GO:0007507heart developmentIEA
GO:0008219cell deathIEA
GO:0008630DNA damage response, signal transduction resulting in induction of apoptosisIEA
GO:0010212response to ionizing radiationIDA
GO:0016310phosphorylationEXP
GO:0016310phosphorylationTAS
GO:0018105peptidyl-serine phosphorylationIDA
GO:0030889negative regulation of B cell proliferationIMP
GO:0031572G2/M transition DNA damage checkpointIMP
GO:0042159lipoprotein catabolic processIEA
GO:0043065positive regulation of apoptosisIMP
GO:0043066negative regulation of apoptosisIEA
GO:0043517positive regulation of DNA damage response, signal transduction by p53 class mediatorIMP
GO:0043525positive regulation of neuron apoptosisIEA
GO:0046777protein autophosphorylationIDA
GO:0071044histone mRNA catabolic processIDA
GO:0071480cellular response to gamma radiationIDA
GO:0090399replicative senescenceIMP
Component
IDNameEvidence
GO:0000781chromosome, telomeric regionIDA
GO:0005634nucleusIEA
GO:0005654nucleoplasmEXP
GO:0005654nucleoplasmTAS
GO:0005819spindleIEA
GO:0016023cytoplasmic membrane-bounded vesicleIEA
Function
IDNameEvidence
GO:0000166nucleotide bindingIEA
GO:0003677DNA bindingIEA
GO:0004674protein serine/threonine kinase activityEXP
GO:0004674protein serine/threonine kinase activityIDA
GO:0004677DNA-dependent protein kinase activityIDA
GO:0005515protein bindingIPI
GO:0005524ATP bindingIEA
GO:0016301kinase activityEXP
GO:0016301kinase activityTAS
GO:00163031-phosphatidylinositol-3-kinase activityIMP
GO:0032403protein complex bindingIDA
GO:0042802identical protein bindingIPI
GO:0046983protein dimerization activityIDA
GO:0047485protein N-terminus bindingIDA
GeneCards ATM
UniProt Q13315
MIM 607585
Ensembl ENSG00000149311
HGNC 795
HPRD 06347

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