Gene: VRK1

Alternate names for this Gene: PCH1|PCH1A

Gene Summary: This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. This gene is widely expressed in human tissues and has increased expression in actively dividing cells, such as those in testis, thymus, fetal liver, and carcinomas. Its protein localizes to the nucleus and has been shown to promote the stability and nuclear accumulation of a transcriptionally active p53 molecule and, in vitro, to phosphorylate Thr18 of p53 and reduce p53 ubiquitination. This gene, therefore, may regulate cell proliferation. This protein also phosphorylates histone, casein, and the transcription factors ATF2 (activating transcription factor 2) and c-JUN.

Gene is located in Chromosome: 14

Location in Chromosome : 14q32.2

Description of this Gene: VRK serine/threonine kinase 1

Type of Gene: protein-coding

rs137853063 in VRK1 gene and Multiple congenital anomalies PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

rs137853063 in VRK1 gene and Pontocerebellar Hypoplasia Type 1 PMID 24126608 2013 Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.