Printable factfile
Gene Information
Names
HUGO name: ATM
Alias(es):
- AT
- AT1
- ATA
- ATC
- ATD
- ATDC
- T-PLL
- TPLL
- T-cell prolymphocytic leukemia
- Serine-protein kinase ATM
- EC 2.7.1.37
Localization
Reference sequences
Chromosomal location
Maps
Other gene-based resources
Protein Information
Description
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.
Subunit:
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:
Phosphorylated.
Induction:
By ionizing radiation.
Other features
Other related resourses:
Expression
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 |