DISEASES

Disease-gene associations mined from literature

Literature associating VRK1 and pontocerebellar hypoplasia type 5

VRK1 [ENSP00000216639]

Serine/threonine-protein kinase VRK1; Serine/threonine kinase involved in Golgi disassembly during the cell cycle: following phosphorylation by PLK3 during mitosis, required to induce Golgi fragmentation. Acts by mediating phosphorylation of downstream target protein. Phosphorylates 'Thr- 18' of p53/TP53 and may thereby prevent the interaction between p53/TP53 and MDM2. Phosphorylates casein and histone H3. Phosphorylates BANF1: disrupts its ability to bind DNA, reduces its binding to LEM domain-containing proteins and causes its relocalization from the nucleus to the cytoplasm. Phosphorylates ATF2 which activates its transcriptional activity; Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family. VRK subfamily.

Synonyms:  VRK1,  VRK1p,  hVRK1,  Q99986,  VRK1-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM