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Code:71-600
Function; The VRK1 gene encodes serine/threonine kinase VRK1 (Vaccinia-Related Kinase 1; 396 aa 45.5 kDa) which is involved in Golgi disassembly during the cell cycle following phosphorylation by PLK3 during mitosis and required to induce Golgi fragmentation. It acts by mediating phosphorylation of a downstream target protein Thr-18 of p53/TP53 and may thereby prevent the interaction between p53/TP53 and MDM2. It also phosphorylates casein and histone H3. Phosphorylation of the BANF1 gene product disrupts its ability to bind DNA reduces its binding to LEM domain-containing proteins and causes its relocalization from the nucleus to the cytoplasm.
Involvement in disease Defects in VRK1 are the cause of pontocerebellar hypoplasia type 1A (PCH1A); also called pontocerebellar hypoplasia with infantile spinal muscular atrophy or pontocerebellar hypoplasia with anterior horn cell disease. PCH1A is characterized by an abnormally small cerebellum and brainstem central and peripheral motor dysfunction from birth gliosis and anterior horn cell degeneration resembling infantile spinal muscular atrophy
Applications
1. Western blotting (1/200~1/1000 dilution). Use of highly sensitive chemiluminescence reagents such as Lumi-Light Plus (Roche) or ImmunoStar○LD (Wako Tokyo) are recommended.
2. Immunoprecipitation (assay dependent)
3. Immunofluorescence staining (1/100 dilution)
4. Immunohistochemistry (assay dependent)
5. ELISA (assay dependent)
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