免 疫 原:KLH conjugated synthetic peptide derived from human ATM
SWISS:Q62388
Gene ID :472
Human Gene ID:472
ATM is a 370 kDa nuclear phosphoprotein involved in the autosomal recessive disease Ataxia Telangiectasia (AT). ATM belongs to a novel family of proteins associated with cell cycle regulation, apoptosis, and response to DNA damage repair (DNA damage caused by such things as ionizing irradiation activates ATM kinase). The C terminal region has extensive homology to the catalytic domains of Phosphatidylinositol 3 kinases (PI3 kinases).
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 s
Subcellular Location:Nucleus. Cytoplasmic vesicle. Primarily nuclear. Found also in endocytic vesicles in association with beta-adaptin.
Tissue Specificity:Found in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain, heart, spleen, thymus, testis, ovary, small intestine, colon and leukocytes.
Post-translational modifications:Phosphorylated by NUAK1/ARK5. Autophosphorylation on Ser-367, Ser-1893, Ser-1981 correlates with DNA damage-mediated activation of the kinase.
Acetylation, on DNA damage, is required for activation of the kinase activity, dimer-monomer transition, and
DISEASE:Defects in ATM are the cause of ataxia telangiectasia (AT) [MIM:208900]; also known as Louis-Bar syndrome, which includes four complementation groups: A, C, D and E. This rare recessive disorder is characterized by progressive cerebellar ataxia, dilation
Similarity:Belongs to the PI3/PI4-kinase family. ATM subfamily.
Contains 1 FAT domain.
Contains 1 FATC domain.
Contains 1 PI3K/PI4K domain.
Important Note:This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.