| Gene Symbol |
ATM
|
| Entrez Gene |
472
|
| Alt Symbol |
AT1, ATA, ATC, ATD, ATDC, ATE, TEL1, TELO1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
ATM serine/threonine kinase
|
| Other Description |
A-T mutated|AT mutated|TEL1, telomere maintenance 1, homolog|ataxia telangiectasia mutated|serine-protein kinase ATM
|
| Swissprots |
Q9UCX7 Q93007 Q9NP02 Q12758 B2RNX5 Q13315 O15429 Q16551
|
| Accessions |
AAB38309 AAB38310 AAB65827 AAC51298 AAO26044 EAW67108 EAW67109 EAW67110 EAW67111 EAW67112 EAW67113 EAW67114 EAW67115 Q13315 AB209133 BAD92370 AF035326 AAM09293 AF035327 AAM09294 AF035328 AAM09295 AK299843 BAG61705 BC007023 BC022306 BC022307 BC061584 AAH61584 BC137169 AAI37170 BC152385 AAI52386 BC152389 AAI52390 BT006764 AAP35410 CR749436 CAH18274 HM437232 ADN43064 KF704396 U26455 AAA86520 U33841 AAC50289 U67093 X91196 CAA62603 Y08455 CAA69711 XM_005271561 XP_005271618 XM_005271562 XP_005271619 XM_006718843 XP_006718906 XM_006718845 XP_006718908 XM_011542840 XP_011541142 XM_011542841 XP_011541143 XM_011542842 XP_011541144 XM_011542843 XP_011541145 XM_011542844 XP_011541146 XM_011542845 XP_011541147 XM_011542846 XP_011541148 XM_011542847 XP_011541149 NM_000051 NP_000042 NM_138292 NM_138293
|
| 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/H2AFX 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
|
| Subcellular Location |
Nucleus. Cytoplasmic vesicle. Note=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.
|
| Top Pathways |
Apoptosis, Cell cycle, p53 signaling pathway, HTLV-I infection, MicroRNAs in cancer
|