NP_000042.3
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
350,687 Da
NCBI Official Full Name
serine-protein kinase ATM
NCBI Official Synonym Full Names
ATM serine/threonine kinase
NCBI Official Synonym Symbols
AT1; ATA; ATC; ATD; ATE; ATDC; TEL1; TELO1 [Similar Products]
NCBI Protein Information
serine-protein kinase ATM; AT mutated; A-T mutated; ataxia telangiectasia mutated; TEL1, telomere maintenance 1, homolog
UniProt Protein Name
Serine-protein kinase ATM
UniProt Synonym Protein Names
Ataxia telangiectasia mutated; A-T mutated
UniProt Synonym Gene Names
UniProt Entry Name
ATM_HUMAN
NCBI Summary for ATM
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, Aug 2010]
UniProt Comments for ATM
Function: Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. After the introduction of DNA breaks by the RAG complex on one immunoglobulin allele, acts by mediating a repositioning of the second allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. Also involved in signal transduction and cell cycle control. May function as a tumor suppressor. Necessary for activation of ABL1 and SAPK. Phosphorylates DYRK2, CHEK2, p53/TP53, FANCD2, NFKBIA, BRCA1, CTIP, nibrin (NBN), TERF1, RAD9 and DCLRE1C. May play a role in vesicle and/or protein transport. Could play a role in T-cell development, gonad and neurological function. Plays a role in replication-dependent histone mRNA degradation. Binds DNA ends. Phosphorylation of DYRK2 in nucleus in response to genotoxic stress prevents its MDM2-mediated ubiquitination and subsequent proteasome degradation. Phosphorylates ATF2 which stimulates its function in DNA damage response.8 PublicationsManual assertion based on experiment in:Ref.29
Catalytic activity: ATP + a protein = ADP + a phosphoprotein.2 PublicationsManual assertion based on experiment in:Ref.15
Enzyme regulation: Inhibited by wortmannin.1 PublicationManual assertion based on experiment in:Ref.17
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Products associated with ATM elisa kit
Pathways associated with ATM elisa kit
Diseases associated with ATM elisa kit
Organs/Tissues associated with ATM elisa kit
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