catalog number :
MBS120228
products full name :
Mouse monoclonal antibody Anti-Human ATM
products short name :
ATM
products name syn :
Homo sapiens ataxia telangiectasia mutated (includes complementation groups A, C and D) (ATM), transcript variant 1; AT1; ATA;ATC; ATD; ATE; ATDC; TEL1; TELO1; MGC74674; DKFZp781A0353
other names :
Homo sapiens ATM serine/threonine kinase (ATM), mRNA; Serine-protein kinase ATM; serine-protein kinase ATM; A-T mutated; AT mutated; TEL1, telomere maintenance 1, homolog; ataxia telangiectasia mutated; ATM serine/threonine kinase; Ataxia telangiectasia mutated; A-T mutated
other gene names :
ATM; ATM; AT1; ATA; ATC; ATD; ATE; ATDC; TEL1; TELO1
uniprot entry name :
ATM_HUMAN
concentration :
100 ug/ml (1.0 ml)
tested application :
Dot Blot (DB)
other info1 :
Preparation: This antibody was purified using protein G column chromatography from culture supernatant of hybridoma cultured in a medium containing bovine IgG-depleted (approximately 95%) fetal bovine serum.
other info2 :
Sterility: Filtered through a 0.22 um membrane.
products description :
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. Two transcript variants encoding different isoforms have been found for this gene. [NCBI Entrez Gene Summary]
ncbi acc num :
NP_000042.3
ncbi gb acc num :
NM_000051
ncbi mol weight :
350,687 Da
ncbi pathways :
ATM Mediated Phosphorylation Of Repair Proteins Pathway (105865); ATM Mediated Response To DNA Double-strand Break Pathway (105864); Apoptosis Pathway (83060); Apoptosis Pathway (470); Autodegradation Of The E3 Ubiquitin Ligase COP1 Pathway (160939); BARD1 Signaling Events Pathway (137959); BRCA1-associated Genome Surveillance Complex (BASC) Pathway (413428); BRCA1-associated Genome Surveillance Complex (BASC) Pathway (890555); Canonical NF-kappaB Pathway (138030); Cell Cycle Pathway (530733)
ncbi 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, Aug 2010]
uniprot summary :
ATM: an atypical kinase of the PIKK family. Regulates cell cycle checkpoints and DNA repair . May function as a tumor suppressor. 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. Involved in the activation of ABL1 and SAPK. Binds DNA ends and is 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. DNA damage promotes association with RAD17. LOF mutations associated with ataxia telangiectasia, causing progressive loss of motor control (ataxia), dilation of superficial blood vessels (telangiectasia), cancer and immune deficiency. Approximately 30% of cases develop tumors, mostly lymphomas and leukemias, due to defects in DNA damage repair. Somatic mutations seen in leukemias and lymphomas. Protein type: DNA repair, damage; Protein kinase, Ser/Thr (non-receptor); Protein kinase, atypical; EC 2.7.11.1; Kinase, protein; Tumor suppressor; ATYPICAL group; PIKK family. Chromosomal Location of Human Ortholog: 11q22-q23. Cellular Component: nucleoplasm; chromosome, telomeric region; cytoplasmic membrane-bound vesicle; spindle. Molecular Function: protein dimerization activity; protein serine/threonine kinase activity; protein binding; DNA binding; 1-phosphatidylinositol-3-kinase activity; protein complex binding; protein N-terminus binding; DNA-dependent protein kinase activity; histone serine kinase activity; ATP binding. Biological Process: lipoprotein catabolic process; DNA damage induced protein phosphorylation; positive regulation of apoptosis; heart development; protein amino acid autophosphorylation; pre-B cell allelic exclusion; negative regulation of B cell proliferation; signal transduction; protein amino acid phosphorylation; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; double-strand break repair; positive regulation of neuron apoptosis; mitotic cell cycle spindle assembly checkpoint; cell cycle arrest; telomere maintenance; somitogenesis; V(D)J recombination; DNA repair; double-strand break repair via homologous recombination; neuron apoptosis; peptidyl-serine phosphorylation; DNA damage response, signal transduction resulting in induction of apoptosis; meiotic recombination; response to hypoxia; response to ionizing radiation; positive regulation of DNA damage response, signal transduction by p53 class mediator; brain development; response to DNA damage stimulus; oocyte development. Disease: Breast Cancer; Ataxia-telangiectasia