Reviewed December 2009
What is the official name of the VRK1 gene?
The official name of this gene is “vaccinia related kinase 1.”
VRK1 is the gene's official symbol. The VRK1 gene is also known by other names, listed below.
What is the normal function of the VRK1 gene?
The VRK1 gene provides instructions for making a protein called vaccinia-related kinase 1. This protein is active in cells throughout the body.
Vaccinia-related kinase 1 plays a critical role in directing cell growth and division. This protein regulates several transcription factors, which are proteins that control the activity of genes by attaching (binding) to specific regions of DNA. Vaccinia-related kinase 1 has a particularly important role in regulating a transcription factor called p53 (which is produced from the TP53 gene). The p53 protein repairs damaged DNA, regulates cell division, and prevents the formation of cancerous tumors. Vaccinia-related kinase 1 stabilizes and activates the p53 protein and controls the levels of p53 in the nucleus.
Studies suggest that vaccinia-related kinase 1 has several additional functions related to cell division. This protein is involved in the assembly of the nuclear envelope, which is a structure that surrounds the nucleus and acts as a barrier between the nucleus and the rest of the cell. The nuclear envelope protects the DNA contained in the nucleus and regulates the movement of molecules into and out of the nucleus. Vaccinia-related kinase 1 is also thought to play a role in the organization of chromatin. Chromatin is the complex of DNA and protein that packages DNA into chromosomes. Both the assembly of the nuclear envelope and the proper organization of chromatin are necessary for normal cell division.
How are changes in the VRK1 gene related to health conditions?
- pontocerebellar hypoplasia - caused by mutations in the VRK1 gene
At least one mutation in the VRK1 gene has been found to cause pontocerebellar hypoplasia type 1 (PCH1). This mutation, which is written as Arg358Ter or R358X, introduces a premature stop signal in the instructions for making vaccinia-related kinase 1. As a result, cells make significantly less of this protein than usual. A shortage of vaccinia-related kinase 1 prevents this protein from interacting with other transcription factors, which likely affects cell growth and division. However, it is unclear how a lack of this protein disrupts normal brain development in people with PCH1. Researchers speculate that vaccinia-related kinase 1 may be involved in the development and maintenance of the nervous system in ways that are not well understood. It appears that mutations in the VRK1 gene are responsible for only a small percentage of all cases of PCH1.
Where is the VRK1 gene located?
Cytogenetic Location: 14q32
Molecular Location on chromosome 14: base pairs 96,797,346 to 96,881,613
The VRK1 gene is located on the long (q) arm of chromosome 14 at position 32.
More precisely, the VRK1 gene is located from base pair 96,797,346 to base pair 96,881,613 on chromosome 14.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about VRK1?
You and your healthcare professional may find the following resources about VRK1 helpful.
Educational resources - Information pages
- Cancer Medicine (sixth edition, 2003): The p53 Gene (http://www.ncbi.nlm.nih.gov/books/NBK12826/)
- Molecular Biology of the Cell (fourth edition, 2002): The Breakdown and Re-Formation of the Nuclear Envelope During Mitosis (Figure) (http://www.ncbi.nlm.nih.gov/books/NBK26932/?rendertype=figure&id=A2174)
- The Cell: A Molecular Approach (second edition, 2000): Chromatin (http://www.ncbi.nlm.nih.gov/books/NBK9863/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for VRK1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7443%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28VRK1%5BTIAB%5D%29%20OR%20%28vaccinia%20related%20kinase%201%5BTIAB%5D%29%29%20OR%20%28vaccinia-related%20kinase-1%5BTIAB%5D%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/602168)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/VRK1ID43556ch14q32.html)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=7443)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=12718)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/7443)
What other names do people use for the VRK1 gene or gene products?
- vaccinia-related kinase-1
- vaccinia virus B1R-related kinase 1
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding VRK1?
cell cycle ;
cell division ;
nervous system ;
nuclear envelope ;
threonine kinase ;
transcription factor ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Gonzaga-Jauregui C, Lotze T, Jamal L, Penney S, Campbell IM, Pehlivan D, Hunter JV, Woodbury SL, Raymond G, Adesina AM, Jhangiani SN, Reid JG, Muzny DM, Boerwinkle E, Lupski JR, Gibbs RA, Wiszniewski W. Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol. 2013 Dec;70(12):1491-8. doi: 10.1001/jamaneurol.2013.4598. (http://www.ncbi.nlm.nih.gov/pubmed/24126608?dopt=Abstract)
- Kang TH, Park DY, Kim W, Kim KT. VRK1 phosphorylates CREB and mediates CCND1 expression. J Cell Sci. 2008 Sep 15;121(Pt 18):3035-41. doi: 10.1242/jcs.026757. Epub 2008 Aug 19. (http://www.ncbi.nlm.nih.gov/pubmed/18713830?dopt=Abstract)
- Klerkx EP, Lazo PA, Askjaer P. Emerging biological functions of the vaccinia-related kinase (VRK) family. Histol Histopathol. 2009 Jun;24(6):749-59. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19337973?dopt=Abstract)
- Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423. (http://www.ncbi.nlm.nih.gov/pubmed/21937992?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/7443)
- Nichols RJ, Wiebe MS, Traktman P. The vaccinia-related kinases phosphorylate the N' terminus of BAF, regulating its interaction with DNA and its retention in the nucleus. Mol Biol Cell. 2006 May;17(5):2451-64. Epub 2006 Feb 22. (http://www.ncbi.nlm.nih.gov/pubmed/16495336?dopt=Abstract)
- Renbaum P, Kellerman E, Jaron R, Geiger D, Segel R, Lee M, King MC, Levy-Lahad E. Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. Am J Hum Genet. 2009 Aug;85(2):281-9. doi: 10.1016/j.ajhg.2009.07.006. Epub 2009 Jul 30. (http://www.ncbi.nlm.nih.gov/pubmed/19646678?dopt=Abstract)
- Valbuena A, López-Sánchez I, Lazo PA. Human VRK1 is an early response gene and its loss causes a block in cell cycle progression. PLoS One. 2008 Feb 20;3(2):e1642. doi: 10.1371/journal.pone.0001642. (http://www.ncbi.nlm.nih.gov/pubmed/18286197?dopt=Abstract)
- Valbuena A, Sanz-García M, López-Sánchez I, Vega FM, Lazo PA. Roles of VRK1 as a new player in the control of biological processes required for cell division. Cell Signal. 2011 Aug;23(8):1267-72. doi: 10.1016/j.cellsig.2011.04.002. Epub 2011 Apr 14. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21514377?dopt=Abstract)
- Vega FM, Sevilla A, Lazo PA. p53 Stabilization and accumulation induced by human vaccinia-related kinase 1. Mol Cell Biol. 2004 Dec;24(23):10366-80. (http://www.ncbi.nlm.nih.gov/pubmed/15542844?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.