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

VRK1 Gene

protein-coding   GIFtS: 63
GCID: GC14P097263

vaccinia related kinase 1
 Explore 16 diseases affiliated with
VRK1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for VRK1    

Aliases
for VRK1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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


Summaries
for VRK1 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
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 plasmid: VRK1 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

Proteins
for VRK1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • 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 mitosis1
  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003375.1  
    ENSEMBL proteins: 
     ENSP00000216639   ENSP00000450820   ENSP00000451682   ENSP00000451412  
    Reactome Protein details: Q99986
    Human Recombinant Protein Products: 
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    Novus Biologicals VRK1 Proteins
    Novus Biologicals VRK1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for VRK1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005795Golgi stack IDA19103756
    GO:0005819spindle IEA--


    VRK1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for VRK1

    Protein Domains /
    Families
    for VRK1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    VRK1 for domains           About GeneDecksing

    4 InterPro domains/families:
     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


    Function
    for VRK1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    hsa-miR-561
    SwitchGear 3'UTR luciferase reporter plasmid: VRK1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for VRK1 (see all 7)
    OriGene shRNA RFP: VRK1
    OriGene siRNA: VRK1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat VRK1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for VRK1

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for VRK1 (see all 5)
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    Cell Line
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    Search LifeMap BioReagents cell lines for VRK1

    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004674protein serine/threonine kinase activity IDA--
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
    GO:0042802identical protein binding IPI--


    VRK1 for ontologies           About GeneDecksing


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

    VRK1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for VRK1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Clearance of Nuclear Envelope Membranes from Chromatin
    		Clearance of Nuclear Envelope Membranes from Chromatin1.00
    		Nuclear Envelope Breakdown0.56
    		Initiation of Nuclear Envelope Reformation0.69
    		Mitotic Prophase0.26
    		Nuclear Envelope Reassembly0.69
    2M Phase
    		M Phase1.00
    		Mitotic Metaphase and Anaphase0.85
    		Mitotic M-M/G1 phases0.88
    		Mitotic Anaphase0.85
    3Cell Cycle
    		Cell Cycle1.00
    		Cell Cycle, Mitotic0.84
    4Cell Cycle / Checkpoint Control
    		Cell Cycle / Checkpoint Control1.00

    Pathway sources
    See GeneCards unified pathways
    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)

    5/578 Interacting proteins for VRK1 (Q999861, 2, 3 ENSP000002166394) via UniProtKB, MINT, STRING, and/or I2D (see all 578)
    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 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468protein phosphorylation TAS9344656
    GO:0007067mitosis IEA--
    GO:0046777protein autophosphorylation IDA--
    GO:0051301cell division IEA--
    GO:0090166Golgi disassembly IDA19103756


    VRK1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for VRK1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
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    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 

    Transcripts
    for VRK1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat VRK1
    1 QIAGEN miScript miRNA Assays for microRNA that regulate VRK1:
    hsa-miR-561
    SwitchGear 3'UTR luciferase reporter plasmid: VRK1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for VRK1 (see all 7)
    OriGene shRNA RFP: VRK1
    OriGene siRNA: VRK1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat VRK1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for VRK1 (see all 5)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: VRK1 (NM_003384)
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    Primer
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    Additional cDNA 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):

    BE614137 BM697628 CR608451 BX421350 BM742262 BX450023 BE783933 CB112408 
    AI937471 BM699279 BG214654 BG202596 AI753791 BU193528 BX362993 CA429461 
    BM669497 BU634261 AI915260 CF146178 AU105759 BG527793 BX362994 BG122614 

    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

    Expression
    for VRK1 gene

    (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
    CGAP TAG: TGTTCAGAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    VRK1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor F15 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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:     
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    Orthologs
    for VRK1 gene

    (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 eukaryotes.

    Orthologs for VRK1 gene from 8/28 species (see all 28)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 67(a)
    		 1 ↔ 1
    		 1(8121936-8141017)
    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 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT3G039306
    AT2G257606
    (see all 5)    		 casein kinase I-like protein
    (see all 5)    		 3(a)
    11(a)
    (see all 5)    		 many ↔ many
    many ↔ many
    (see all 5)    		 3(1011414-1012810)
    2(10984808-10988924)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 6)    		 CK1_CaseinKinase_1a.4 - CK1 includes the casein ki...
    CK1_CaseinKinase_1a.5 - CK1 includes the casein ki...
    (see all 6)    		 9(a)
    11(a)
    (see all 6)    		 many ↔ many
    many ↔ many
    (see all 6)    		 3(32992372-32999768)
    5(6272625-6282505)


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

    Paralogs
    for VRK1 gene

    (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  CSNK1G22  CSNK1A12  CSNK1A1L2  TTBK12  
    CSNK1G12  CSNK1E2  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



    Genomic Variants
    for VRK1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1430 NCBI SNPs in VRK1 are shown (see all 1430)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 14 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1378530631,2
    		Cpathogenic92237945(+) AGAAGC/TGAAAG 2 R * stg11Minor allele frequency- T:0.00EU 1251
    rs80154141,2
    		C,A--77445223(+) AATTCC/GAAATA 1 -- us2k1 tfbs30--------
    rs80156681,2
    		A--77445231(+) ataggA/Gtaatt 1 -- us2k1 tfbs30--------
    rs80155551,2
    		A--77445268(+) ATTTAC/TAACGG 1 -- us2k10--------
    rs80155571,2
    		A--77445271(+) tacaaC/Tggtgt 1 -- us2k10--------
    rs80167581,2
    		A--77445302(+) gaggaA/Tgcagt 1 -- us2k10--------
    rs80196151,2
    		A,H--77445378(+) actacC/Tgcaaa 1 -- us2k11Minor allele frequency- T:0.00NS 118
    rs80195021,2
    		A,H--77445431(+) ctgccA/Gactgg 1 -- us2k14Minor allele frequency- G:0.00NS EA 418
    rs80199881,2
    		A,H--77445662(+) ggcacA/TATATT 1 -- us2k14Minor allele frequency- T:0.00NS EA 418
    rs80202921,2
    		A--77445769(+) tggctC/Tatgcc 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for VRK1 (97263641 - 97398059 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for VRK1: --
    Human Gene Mutation Database (HGMD): VRK1

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for VRK1

    Disorders / Diseases
    for VRK1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    VRK1 for disorders           About GeneDecksing

    OMIM gene information: 602168   
    OMIM disorders: 607596  
    UniProtKB/Swiss-Prot: VRK1_HUMAN, Q99986
  • Defects in VRK1 are the cause of pontocerebellar hypoplasia type 1A (PCH1A) [MIM:607596]; also called
    • pontocerebellar hypoplasia with infantile spinal muscular atrophy or pontocerebellar hypoplasia with anterior horn
    cell disease. PCH1A is characterized by an abnormally small cerebellum and brainstem, central and peripheral motor
    dysfunction from birth, gliosis and anterior horn cell degeneration resembling infantile spinal muscular atrophy (SMA)

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

    2 diseases from the University of Copenhagen DISEASES database for VRK1:
    Microcephaly     Vaccinia
    Human Genome Epidemiology (HuGE) Navigator: VRK1 (1 document)

    Export disorders for VRK1 gene to outside databases

    Publications
    for VRK1 gene

    (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 46):
    (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. 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)
    8. 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)
    9. 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)
    10. VRK1 signaling pathway in the context of the proliferation phenotype in head and neck squamous cell carcinoma. (PubMed id 16547155)1, 9 Santos C.R....Lazo P.A. (2006)

    External Searches for VRK1 gene

    (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)

    Genome Databases showing VRK1 gene

    (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

    Other Databases showing VRK1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing VRK1 gene

    (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

    Intellectual Property
    for VRK1 gene

    (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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