| Gene Symbol |
ATR
|
| Entrez Gene |
545
|
| Alt Symbol |
FCTCS, FRP1, MEC1, SCKL, SCKL1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
ATR serine/threonine kinase
|
| Other Description |
FRAP-related protein-1|MEC1, mitosis entry checkpoint 1, homolog|ataxia telangiectasia and Rad3-related protein|serine/threonine-protein kinase ATR
|
| Swissprots |
Q13535 Q9BXK4 Q59HB2 Q7KYL3 Q93051
|
| Accessions |
AAK26749 CAA03590 EAW78969 EAW78970 Q13535 AB208847 BAD92084 AK307402 BC172404 AAI72404 BE859077 DC346860 U49844 AAC50405 U76308 AAC50929 Y09077 CAA70298 XM_011512924 XP_011511226 XM_011512925 XP_011511227 XM_011512926 XP_011511228 XM_011512927 XP_011511229 XR_924147 XR_924148 XR_924149 NM_001184 NP_001175
|
| Function |
Serine/threonine protein kinase which activates checkpoint signaling upon genotoxic stresses such as ionizing radiation (IR), ultraviolet light (UV), or DNA replication stalling, thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates BRCA1, CHEK1, MCM2, RAD17, RPA2, SMC1 and p53/TP53, which collectively inhibit DNA replication and mitosis and promote DNA repair, recombination and apoptosis. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX at sites of DNA damage, thereby regulating DNA damage response mechanism. Required for FANCD2 ubiquitination. Critical for maintenance of fragile site stability and efficient regulation of centrosome duplication. {ECO:0000269|PubMed:10597277, ECO:0000269|PubMed:10608806, ECO:0000269|PubMed:10859164, ECO:0000269|PubMed:11114888, ECO:0000269|PubMed:11418864, ECO:0000269|PubMed:11673449, ECO:0000269|PubMed:11721054, ECO:0000269|PubMed:11865061, ECO:0000269|PubMed:12526805, ECO:0000269|PubMed:127919
|
| Subcellular Location |
Nucleus {ECO:0000269|PubMed:11114888, ECO:0000269|PubMed:11721054, ECO:0000269|PubMed:11865061, ECO:0000269|PubMed:12814551, ECO:0000269|PubMed:14871897, ECO:0000269|PubMed:16260606, ECO:0000269|PubMed:18283122, ECO:0000269|PubMed:8843195}. Nucleus, PML body {ECO:0000250}. Chromosome {ECO:0000250}. Note=Depending on the cell type, it can also be found in PML nuclear bodies. Recruited to chromatin during S-phase. Redistributes to discrete nuclear foci upon DNA damage, hypoxia or replication fork stalling.
|
| Tissue Specificity |
Ubiquitous, with highest expression in testis. Isoform 2 is found in pancreas, placenta and liver but not in heart, testis and ovary. {ECO:0000269|PubMed:11470508, ECO:0000269|PubMed:8610130, ECO:0000269|PubMed:8843195}.
|
| Top Pathways |
Cell cycle, p53 signaling pathway, HTLV-I infection, Fanconi anemia pathway
|