DISEASES

Disease-gene associations mined from literature

Literature associating ATR and epithelial-stromal TGFBI dystrophy

ATR [ENSP00000343741]

Ataxia telangiectasia and Rad3-related protein; 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; Belongs to the PI3/PI4-kinase family. ATM subfamily.

Synonyms:  ATR,  D6RFJ6,  D6RIG7,  H0Y8R8,  H0Y8Y6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM