Gene Information


HUGO name: ATM


  • AT
  • AT1
  • ATA
  • ATC
  • ATD
  • ATDC
  • T-PLL
  • TPLL
  • T-cell prolymphocytic leukemia
  • Serine-protein kinase ATM
  • EC


Reference sequences

Chromosomal location


Protein Information


Protein function:

Involved in signal transduction, cell cycle control and DNA repair. May function as a tumor suppressor. Necessary for activation of abl1 and sapk. Phosphorylates p53, nfkbia, brca1, ctip, nibrin (nbs1), terf1, and rad9. May play a role in vesicle and/or protein transport. Inhibited by wortmaninn. Could play a role in T-cell development, gonad and neurological function.

Catalytic activity:

ATP + a protein = ADP + a phosphoprotein.


Exists in monomeric and tetrameric state. Binds DNA ends, p53, abl1, brca1, nibrin (nbs1) and terf1. Part of the brca1-associated genome surveillance complex (basc), which contains brca1, msh2, msh6, mlh1, atm, blm, pms2 and the rad50-mre11-nbs1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains.

Subcellular location:

Primarily nuclear. Found also in endocytic vesicles in association with beta-adaptin.

Post-translational modification:



By ionizing radiation.


Expression pattern for human

Tissue Expression (%) Clones
CNS, multiple sclerosis lesions 7.76 3:7823
corresponding non cancerous liver tissue 7.28 5:13909
tonsil, enriched for germinal center B-cells 7.20 13:36522
aorta 5.91 3:10275
foveal and macular retina 5.00 1:4045
human optic nerve 4.59 1:4406
eye, retina 4.02 2:10065
uterus, pooled 3.91 3:15533
lung, 2 pooled neuroendocrine lung carcinoids 3.67 3:16549
adrenal gland 3.49 3:17391