Vaccinia-Related Kinase 1

Alternative Names

  • VRK1
  • Vaccinia Virus B1R-Related Kinase 1
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OMIM Number

602168

NCBI Gene ID

7443

Uniprot ID

Q99986

Length

134,341 bases

No. of Exons

15

No. of isoforms

1

Protein Name

Serine/threonine-protein kinase VRK1

Molecular Mass

45476 Da

Amino Acid Count

396

Genomic Location

chr14:96,797,382-96,931,722

Gene Map Locus
14q32.2

Description

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. [From Refseq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_003384.3:c.656G>TLebanonchr14:96855303PathogenicSpinal Muscular Atrophy, Distal, Autosomal RecessiveNG_016293.1:g.62957G>T; NM_003384.3:c.656G>T; NP_003375.1:p.Arg219Ile1595676517619020
NM_003384.3:c.761G>TLebanonchr14:96856181PathogenicSpinal Muscular Atrophy, Distal, Autosomal RecessiveNG_016293.1:g.63835G>T; NM_003384.3:c.761G>T; NP_003375.1:p.Trp254Leu1172497555617789
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