VRK1 VRK serine/threonine kinase 1
Gene ID: 7443, updated on 2-Nov-2024Gene type: protein coding
Also known as: PCH1; PCH1A; HMNR10
- See all available tests in GTR for this gene
- Go to complete Gene record for VRK1
- Go to Variation Viewer for VRK1 variants
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. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. GeneReviews: Not available | |
| Genome wide association study of SNP-, gene-, and pathway-based approaches to identify genes influencing susceptibility to Staphylococcus aureus infections. GeneReviews: Not available | |
| Heritability and genetic association analysis of cognition in the Diabetes Heart Study. GeneReviews: Not available | |
| Neuronopathy, distal hereditary motor, autosomal recessive 10 | not available |
| Pontocerebellar hypoplasia type 1A | See labs |
Genomic context
- Location:
- 14q32.2
- Sequence:
- Chromosome: 14; NC_000014.9 (96797382..96881609)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for VRK1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
- VRK1 database
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