ATM Antibody – Rabbit Polyclonal

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]

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: ATYPICAL group; DNA repair, damage; EC 2.7.11.1; Kinase, protein; PIKK family; Protein kinase, Ser/Thr (non-receptor); Protein kinase, atypical; Tumor suppressor

Chromosomal Location of Human Ortholog: 11q22.3

Cellular Component: chromosome, telomeric region; nuclear chromosome, telomeric region; nucleoplasm; nucleus

Molecular Function: 1-phosphatidylinositol-3-kinase activity; DNA-dependent protein kinase activity; protein binding; protein complex binding; protein dimerization activity; protein N-terminus binding; protein serine/threonine kinase activity

Biological Process: cell cycle arrest; DNA damage induced protein phosphorylation; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; DNA double-strand break processing; DNA repair; DNA replication; DNA synthesis during DNA repair; double-strand break repair via nonhomologous end joining; meiotic recombination; mitotic cell cycle spindle assembly checkpoint; negative regulation of B cell proliferation; peptidyl-serine phosphorylation; positive regulation of apoptosis; positive regulation of DNA damage response, signal transduction by p53 class mediator; positive regulation of telomere maintenance via telomerase; pre-B cell allelic exclusion; protein amino acid autophosphorylation; protein amino acid phosphorylation; regulation of apoptosis; regulation of autophagy; regulation of telomerase activity; response to DNA damage stimulus; response to ionizing radiation; signal transduction; strand displacement; telomere maintenance via telomerase

Disease: Ataxia-telangiectasia; Breast Cancer