Rabbit anti-Human ATM Polyclonal Antibody

Uniprot Id

Q13315

Target Species

Human

Target Name

ATM

Target Full Name

Serine-protein kinase ATM

Target 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 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, FBXW7, FANCD2, NFKBIA, BRCA1, CTIP, nibrin (NBN), TERF1, UFL1, RAD9, UBQLN4 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. Phosphorylates ERCC6 which is essential for its chromatin remodeling activity at DNA double-strand breaks.

Target Involvement

Ataxia telangiectasia (AT)

Target Subcellular Location

Nucleus. Cytoplasmic vesicle. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

Target Protein Families

PI3/PI4-kinase family, ATM subfamily

Target Tissue Specificity

Found in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain, heart, spleen, thymus, testis, ovary, small intestine, colon and leukocytes.

Target Synonyms

A-T mutated; A-T mutated homolog; AT mutated; AT1; ATA; Ataxia telangiectasia mutated; Ataxia telangiectasia mutated gene; Ataxia telangiectasia mutated homolog (human); Ataxia telangiectasia mutated homolog; ATC; ATD; ATDC; ATE; ATM; ATM serine/threonine kinase; ATM_HUMAN; DKFZp781A0353; MGC74674; OTTHUMP00000232981; Serine protein kinase ATM; Serine-protein kinase ATM; Serine/threonine-protein kinase ATM; Tefu; TEL1; TEL1; telomere maintenance 1; homolog; TELO1; Telomere fusion protein

Target Background

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.