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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

VRK1 Gene

protein-coding   GIFtS: 66
GCID: GC14P097263

Vaccinia Related Kinase 1

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Vaccinia Related Kinase 11 2     PCH1A2
Vaccinia-Related Kinase 12 3     Serine/Threonine-Protein Kinase VRK12
EC 2.7.11.13 8     Vaccinia Virus B1R-Related Kinase 12
PCH12 5     

External Ids:    HGNC: 127181   Entrez Gene: 74432   Ensembl: ENSG000001007497   OMIM: 6021685   UniProtKB: Q999863   

Export aliases for VRK1 gene to outside databases

Previous GC identifers: GC14P094774 GC14P091080 GC14P095253 GC14P096333 GC14P077447


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for VRK1 Gene:
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)

GeneCards Summary for VRK1 Gene: 
VRK1 (vaccinia related kinase 1) is a protein-coding gene. Diseases associated with VRK1 include vaccinia, and pontocerebellar hypoplasia type 1a, and among its related super-pathways are Mitotic M-M/G1 phases and Clearance of Nuclear Envelope Membranes from Chromatin. GO annotations related to this gene include protein serine/threonine kinase activity and identical protein binding. An important paralog of this gene is VRK3.

UniProtKB/Swiss-Prot: VRK1_HUMAN, Q99986
Function: Serine/threonine kinase involved in Golgi disassembly during the cell cycle: following phosphorylation
by PLK3 during mitosis, required to induce Golgi fragmentation. Acts by mediating phosphorylation of downstream
target protein. Phosphorylates 'Thr-18' of p53/TP53 and may thereby prevent the interaction between p53/TP53 and
MDM2. Phosphorylates casein and histone H3. Phosphorylates BANF1: disrupts its ability to bind DNA, reduces its
binding to LEM domain-containing proteins and causes its relocalization from the nucleus to the cytoplasm

Gene Wiki entry for VRK1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NT_026437.12  NC_018925.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the VRK1 gene promoter:
         p53   AP-1   ATF-2   p300   Tal-1beta   POU2F1   POU2F1a   HSF2   c-Jun   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVRK1 promoter sequence
   Search SABiosciences Chromatin IP Primers for VRK1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VRK1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q32   Ensembl cytogenetic band:  14q32.2   HGNC cytogenetic band: 14q32.2

VRK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VRK1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P097263:  view genomic region     (about GC identifiers)

Start:
97,263,641 bp from pter      End:
97,398,059 bp from pter
Size:
134,419 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: VRK1_HUMAN, Q99986 (See protein sequence)
Recommended Name: Serine/threonine-protein kinase VRK1  
Size: 396 amino acids; 45476 Da
Subcellular location: Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, spindle (By similarity). Note=Dispersed
throughout the cell but not located on mitotic spindle or chromatids during mitosis
4 PDB 3D structures from and Proteopedia for VRK1:
2KTY (3D)        2KUL (3D)        2LAV (3D)        3OP5 (3D)    
Secondary accessions: Q3SYL2

Explore the universe of human proteins at neXtProt for VRK1: NX_Q99986

Explore proteomics data for VRK1 at MOPED 

Post-translational modifications:

  • UniProtKB: Autophosphorylated at various serine and threonine residues. Autophosphorylation does not impair its ability to
    phosphorylate p53/TP53. Phosphorylation by PLK3 leads to induction of Golgi fragmentation during mitosis
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99986

  • 4/7 DME Specific Peptides for VRK1 (Q99986) (see all 7)
     DLEILGY  FTELKFYQ  LDILEYIH  EYVHGDIKA 

    VRK1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    VRK1 Protein Expression
    REFSEQ proteins: NP_003375.1  
    ENSEMBL proteins: 
     ENSP00000216639   ENSP00000450820   ENSP00000451682   ENSP00000451412  
    Reactome Protein details: Q99986
    Human Recombinant Protein Products for VRK1: 
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    Novus Biologicals VRK1 Proteins
    Novus Biologicals VRK1 Lysates
    Sino Biological Recombinant Protein for VRK1
    Sino Biological Cell Lysate for VRK1 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for VRK1 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005795Golgi stack IDA19103756

    VRK1 for ontologies           About GeneDecksing



    VRK1 Antibody Products: 
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    Assay Products for VRK1: 
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    Cloud-Clone Corp. ELISAs for VRK1 
    Cloud-Clone Corp. CLIAs for VRK1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: vaccinia related kinase 1 
    Vaccina related kinase (VRK) family

    4 InterPro protein domains:
     IPR017441 Protein_kinase_ATP_BS
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_cat_dom

    Graphical View of Domain Structure for InterPro Entry Q99986

    ProtoNet protein and cluster: Q99986

    UniProtKB/Swiss-Prot: VRK1_HUMAN, Q99986
    Similarity: Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family. VRK subfamily
    Similarity: Contains 1 protein kinase domain


    VRK1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VRK1_HUMAN, Q99986
    Function: Serine/threonine kinase involved in Golgi disassembly during the cell cycle: following phosphorylation
    by PLK3 during mitosis, required to induce Golgi fragmentation. Acts by mediating phosphorylation of downstream
    target protein. Phosphorylates 'Thr-18' of p53/TP53 and may thereby prevent the interaction between p53/TP53 and
    MDM2. Phosphorylates casein and histone H3. Phosphorylates BANF1: disrupts its ability to bind DNA, reduces its
    binding to LEM domain-containing proteins and causes its relocalization from the nucleus to the cytoplasm
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Enzyme regulation: Active in presence of Mn(2+), Mg(2+) and Zn(2+), but is not functional with Ca(2+) or Cu(2+).
    Has a higher affinity for Mn(2+) than for Mg(2+). RAN inhibits its autophosphorylation and its ability to
    phosphorylate histone H3

         Genatlas biochemistry entry for VRK1:
    vaccinia-related kinase 1,widely expressed

         Enzyme Number (IUBMB): EC 2.7.11.11 2

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity IDA--
    GO:0005515protein binding IPI15105425
    GO:0005524ATP binding IEA--
    GO:0016772transferase activity, transferring phosphorus-containing groups ----
         
    VRK1 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Vrk1):
     cellular  endocrine/exocrine gland  normal  reproductive system 

    VRK1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for VRK1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for VRK1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for VRK1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for VRK1 

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    1 QIAGEN miScript miRNA Assays for microRNA that regulate VRK1:
    hsa-miR-561
    SwitchGear 3'UTR luciferase reporter plasmidVRK1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for VRK1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1M Phase
    Mitotic Anaphase0.94
    M Phase0.88
    Mitotic Metaphase and Anaphase0.94
    Mitotic M-M/G1 phases0.88
    2Initiation of Nuclear Envelope Reformation
    Initiation of Nuclear Envelope Reformation0.69
    Nuclear Envelope Reassembly0.69
    Clearance of Nuclear Envelope Membranes from Chromatin0.69
    3Cell Cycle
    Cell Cycle, Mitotic0.84
    Cell Cycle0.84
    4Regulation of Glucokinase by Glucokinase Regulatory Protein
    Nuclear Envelope Breakdown0.77
    Mitotic Prophase0.70
    5DNA Damage
    Cell Cycle / Checkpoint Control0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for VRK1
        Cell Cycle / Checkpoint Control


    5/11        Reactome Pathways for VRK1 (see all 11)
        Mitotic Metaphase and Anaphase
    Initiation of Nuclear Envelope Reformation
    Clearance of Nuclear Envelope Membranes from Chromatin
    Mitotic Anaphase
    Cell Cycle



    VRK1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for VRK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/606 Interacting proteins for VRK1 (Q999861, 2, 3 ENSP000002166394) via UniProtKB, MINT, STRING, and/or I2D (see all 606)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RANP628261, 3, ENSP000003961274EBI-1769146,EBI-286642 I2D: score=2 STRING: ENSP00000396127
    HIST2H3CQ71DI33, ENSP000003581544I2D: score=1 STRING: ENSP00000358154
    HIST2H3AQ71DI33I2D: score=1 
    HIST2H3DQ71DI33I2D: score=1 
    ATF2P153361, 3, ENSP000002641104EBI-1769146,EBI-1170906 I2D: score=1 STRING: ENSP00000264110
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0006468protein phosphorylation TAS9344656
    GO:0007067mitosis IEA--
    GO:0007077mitotic nuclear envelope disassembly TAS--
    GO:0007084mitotic nuclear envelope reassembly TAS--

    VRK1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for VRK1

    2 HMDB Compounds for VRK1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    Search CenterWatch for drugs/clinical trials and news about VRK1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for VRK1 gene: 
    NM_003384.2  

    Unigene Cluster for VRK1:

    Vaccinia related kinase 1
    Hs.422662  [show with all ESTs]
    Unigene Representative Sequence: NM_003384
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000216639(uc001yft.3) ENST00000555351 ENST00000557222 ENST00000557352
    ENST00000555067 ENST00000553683 ENST00000555402
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate VRK1:
    hsa-miR-561
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    Inhib. RNA
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    Additional mRNA sequence: 

    AB000449.1 AK290110.1 BC005970.1 BC103761.1 BC112075.1 BC113510.1 

    9 DOTS entries:

    DT.312031  DT.100645538  DT.95120225  DT.92387547  DT.120792329  DT.92448872  DT.91948520  DT.92448865 
    DT.92448866 

    24/222 AceView cDNA sequences (see all 222):

    BU628184 CR619781 BE783933 BU735811 BE614137 BG202596 BU193528 BM742262 
    AU117725 CR608451 CB112408 BM669497 CA429461 BX450023 AA136423 BM697628 
    BX362993 AI753791 BM699279 CA397936 BU634261 AU105759 BX362994 BI523830 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for VRK1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
    SP1:                                            -                             -                     
    SP2:                                                                                                
    SP3:                                                                          -                     
    SP4:                                                                                                


    ECgene alternative splicing isoforms for VRK1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    VRK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTTCAGAAA
    VRK1 Expression
    About this image


    See VRK1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for VRK1

    SOURCE GeneReport for Unigene cluster: Hs.422662

    UniProtKB/Swiss-Prot: VRK1_HUMAN, Q99986
    Tissue specificity: Widely expressed. Highly expressed in fetal liver, testis and thymus

        SABiosciences Custom PCR Arrays for VRK1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VRK1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for VRK1 gene from 8/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vrk11 , 5 vaccinia related kinase 11, 5 83.76(n)1
    86.29(a)1
      12 (56.37 cM)5
    223671  NM_001029843.11  NP_001025014.11 
     1060102635 
    chicken
    (Gallus gallus)
    Aves VRK11 vaccinia related kinase 1 73.76(n)
    73.16(a)
      423443  NM_001006485.1  NP_001006485.1 
    lizard
    (Anolis carolinensis)
    Reptilia VRK16
    vaccinia related kinase 1
    63(a)
    1 ↔ 1
    1(8121934-8150051)
    African clawed frog
    (Xenopus laevis)
    Amphibia vrk1-prov2 vaccinia related kinase 1 75.34(n)    BC054213.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufe16f062 Danio rerio mRNA similar to vaccinia related kinase more 74.59(n)    BC047853.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta BcDNA:LD090093
    ball1
    protein amino acid phosphorylation
    protein kinase3
    ballchen1
    41(a)3
    46.49(n)1
    39.22(a)1
      97D53
    432281  NM_170292.11  NP_733171.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F28B12.33
    vrk-11
    Protein kinase3
    Protein VRK-11
    33(a)3
    44.98(n)1
    32.8(a)1
      II(5921937-5924423)3
    1740041  NM_062784.31  NP_495185.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YCK36
    YCK26
    (see all 3)
    Palmitoylated, vacuolar membrane-localized casein ...
    Palmitoylated plasma membrane-bound casein kinase ...
    (see all 3)
    16(a)
    15(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    V(404813-406387)
    XIV(343636-345276)


    ENSEMBL Gene Tree for VRK1 (if available)
    TreeFam Gene Tree for VRK1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for VRK1 gene
    VRK32  CSNK1G32  VRK22  CSNK1D2  ENSG000002593162  CSNK1A12  CSNK1G22  CSNK1A1L2  
    TTBK12  CSNK1E2  CSNK1G12  TTBK22  
    3 SIMAP similar genes for VRK1 using alignment to 4 protein entries:     VRK1_HUMAN (see all proteins):
    VRK2    VRK3    CSNK1A1

    VRK1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1732 SNPs in VRK1 are shown (see all 1732)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1378530631,2
    Cpathogenic178333691(+) AGAAGC/TGAAAG 2 R * stg11Minor allele frequency- T:0.00EU 1251
    rs793237301,2
    C--77509130(+) CTAGT-/AGTT  
            
    CTTTG
    1 -- int10--------
    rs352055101,2
    C--77514783(+) AAAAAA/-TTGGG 1 -- int11Minor allele frequency- -:0.00NA 2
    rs1154526721,2
    C,F--78253037(+) TGGGGG/AATTCC 1 -- us2k11Minor allele frequency- A:0.01WA 118
    rs1921048651,2
    --78253051(+) CCCATA/GAGATG 1 -- us2k10--------
    rs80154141,2
    C,A--78253153(+) aattcC/Gaaata 1 -- us2k1 tfbs30--------
    rs80156681,2
    A--78253161(+) ataggA/Gtaatt 1 -- us2k1 tfbs30--------
    rs1449855581,2
    --78253178(+) AGGTTA/CTTTGC 1 -- us2k10--------
    rs80155551,2
    A--78253198(+) ATTTAC/TAACGG 1 -- us2k10--------
    rs80155571,2
    A--78253201(+) tacaaC/Tggtgt 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for VRK1 (97263641 - 97398059 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for VRK1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv510650CNV Loss20534489
    esv260042OTHER Complex20981092


    Human Gene Mutation Database (HGMD): VRK1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing VRK1
    DNA2.0 Custom Variant and Variant Library Synthesis for VRK1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602168   
    OMIM disorders: 607596  
    UniProtKB/Swiss-Prot: VRK1_HUMAN, Q99986
  • Pontocerebellar hypoplasia 1A (PCH1A) [MIM:607596]: A disorder characterized by an abnormally small
    cerebellum and brainstem, central and peripheral motor dysfunction from birth, gliosis and spinal cord anterior
    horn cells degeneration resembling infantile spinal muscular atrophy. Additional features include muscle
    hypotonia, congenital contractures and respiratory insufficiency that is evident at birth. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 14 diseases for VRK1:    About MalaCards
    vaccinia    pontocerebellar hypoplasia type 1a    pontocerebellar hypoplasia type 1    anterior horn cell disease
    pontocerebellar hypoplasia    werdnig-hoffmann disease    goldenhar syndrome    olivopontocerebellar atrophy
    spinal muscular atrophy    muscular atrophy    microcephaly    hepatitis c
    squamous cell carcinoma    hepatitis

    4 diseases from the University of Copenhagen DISEASES database for VRK1:
    Anterior horn cell disease     Vaccinia     Werdnig-Hoffmann disease     Microcephaly

    VRK1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): VRK1
    Human Genome Epidemiology (HuGE) Navigator: VRK1 (1 document)

    Export disorders for VRK1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for VRK1 gene, integrated from 9 sources (see all 53):
    (articles sorted by number of sources associating them with VRK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of two novel human putative serine/threonine kinases, VRK1 and VRK2, with structural similarity to Vaccinia virus B1R kinase. (PubMed id 9344656)1, 2, 3 Nezu J.... Shimane M. (1997)
    2. The human vaccinia-related kinase 1 (VRK1) phosphorylates threonine- 18 within the mdm-2 binding site of the p53 tumour suppressor protein. (PubMed id 10951572)1, 2, 9 Lopez-Borges S. and Lazo P.A. (2000)
    3. Kinetic properties of p53 phosphorylation by the human vaccinia- related kinase 1. (PubMed id 11883897)1, 2, 9 Barcia R.... Lazo P.A. (2002)
    4. Proteomics identification of nuclear Ran GTPase as an inhibitor of human VRK1 and VRK2 (vaccinia-related kinase) activities. (PubMed id 18617507)1, 2, 9 Sanz-Garcia M....Lazo P.A. (2008)
    5. Spinal muscular atrophy with pontocerebellar hypoplas ia is caused by a mutation in the VRK1 gene. (PubMed id 19646678)1, 2, 9 Renbaum P....Levy-Lahad E. (2009)
    6. Characterization of three paralogous members of the Mammalian vaccinia related kinase family. (PubMed id 14645249)1, 2, 9 Nichols R.J. and Traktman P. (2004)
    7. Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. (PubMed id 21507922)1, 4 Ramsuran V....Ndung'u T. (2011)
    8. NMR solution structure of human vaccinia-related kina se 1 (VRK1) reveals the C-terminal tail essential for its structural stability and autocatalytic activity. (PubMed id 21543316)1, 2 Shin J....Yoon H.S. (2011)
    9. Plk3 interacts with and specifically phosphorylates VRK1 in Ser342, a downstream target in a pathway that induces Golgi fragmentation. (PubMed id 19103756)1, 2 LA^pez-SA!nchez I....Lazo P.A. (2009)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7443 HGNC: 12718 AceView: VRK1 Ensembl:ENSG00000100749 euGenes: HUgn7443
    ECgene: VRK1 H-InvDB: VRK1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for VRK1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for VRK1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for VRK1 gene:
    Search GeneIP for patents involving VRK1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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