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VRK1 Gene

protein-coding   GIFtS: 68
GCID: GC14P097263

Vaccinia Related Kinase 1

  See VRK1-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)
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Aliases
Vaccinia Related Kinase 11 2     PCH12
Vaccinia-Related Kinase 12 3     Serine/Threonine-Protein Kinase VRK12
EC 2.7.11.13 8     Vaccinia Virus B1R-Related Kinase 12
PCH1A2 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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.
Phosphorylates ATF2 which activates its transcriptional activity

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   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 Chromatin IP Primers for VRK1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: VRK1_HUMAN, Q99986 (See protein sequence)
Recommended Name: Serine/threonine-protein kinase VRK1  
Size: 396 amino acids; 45476 Da
5 PDB 3D structures from and Proteopedia for VRK1:
2KTY (3D)        2KUL (3D)        2LAV (3D)        2RSV (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: 

  • 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
  • Ubiquitination2 at Lys85, Lys112, Lys188, Lys301, Lys307, Lys314, Lys329
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for VRK1 (Q99986) (see all 7)
     DLEILGY  FTELKFYQ  LDILEYIH  EYVHGDIKA 


    See VRK1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003375.1  
    ENSEMBL proteins: 
     ENSP00000216639   ENSP00000450820   ENSP00000451682   ENSP00000451412  
    Reactome Protein details: Q99986

    VRK1 Human Recombinant Protein Products:

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    Novus Biologicals VRK1 Proteins
    Novus Biologicals VRK1 Lysates
    Sino Biological Recombinant Protein for VRK1
    Sino Biological Cell Lysate for VRK1
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    Cloud-Clone Corp. Proteins for VRK1

     
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    antibodies-online proteins for VRK1 (8 products) 

     
    antibodies-online peptides for VRK1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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_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


    Find genes that share domains with VRK1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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.
    Phosphorylates ATF2 which activates its transcriptional activity
    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 molecular function terms:    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 ----
         
    Find genes that share ontologies with VRK1           About GenesLikeMe


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

    Find genes that share phenotypes with VRK1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for VRK1

    miRNA
    Products:
        
    miRTarBase miRNAs that target VRK1:
    hsa-mir-24-3p (MIRT030361)

    Block miRNA regulation of human, mouse, rat VRK1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate VRK1:
    hsa-miR-561
    SwitchGear 3'UTR luciferase reporter plasmidVRK1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat VRK1

    Gene Editing
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    Sino Biological Human cDNA Clone for VRK1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VRK1
    Addgene plasmids for VRK1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VRK1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    VRK1_HUMAN, Q99986: Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, spindle (By similarity). Note=Dispersed
    throughout the cell but not located on mitotic spindle or chromatids during mitosis
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    nucleus5
    cytosol4
    cytoskeleton2
    mitochondrion2

    Gene Ontology (GO): Selected cellular component terms (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

    Find genes that share ontologies with VRK1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for VRK1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    2Nuclear Envelope Reassembly
    Nuclear Envelope Reassembly
    Initiation of Nuclear Envelope Reformation0.00
    Clearance of Nuclear Envelope Membranes from Chromatin0.00
    3Mitotic Metaphase and Anaphase
    Mitotic Anaphase0.94
    Mitotic Metaphase and Anaphase0.93
    4Regulation of Glucokinase by Glucokinase Regulatory Protein
    Nuclear Envelope Breakdown0.77
    5RNA Polymerase I Promoter Opening
    Mitotic Prophase0.56


    Find genes that share SuperPaths with VRK1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    2 Reactome Pathways for VRK1
        Initiation of Nuclear Envelope Reformation
    Clearance of Nuclear Envelope Membranes from Chromatin


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for VRK1
    Interactions:

        GeneGlobe Interaction Network for VRK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for VRK1 (Q999861, 2, 3 ENSP000002166394) via UniProtKB, MINT, STRING, and/or I2D (see all 647)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLK3Q9H4B41, 3, ENSP000003612754EBI-1769146,EBI-751877 I2D: score=2 STRING: ENSP00000361275
    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): Selected biological process terms (see all 7):    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--

    Find genes that share ontologies with VRK1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    1 qRT-PCR Assays for microRNA that regulate VRK1:
    hsa-miR-561
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    Inhib. RNA
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    Addgene plasmids for VRK1 
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      QuantiTect SYBR Green Assays in human, mouse, rat VRK1
      QuantiFast Probe-based Assays in human, mouse, rat VRK1

    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 

    Selected AceView cDNA sequences (see all 222):

    BM669497 CR608451 BM697628 BX362993 BU628184 CR619781 CB112408 BM742262 
    BU735811 CA429461 CA397936 BE614137 AA136423 BX450023 BU634261 AI753791 
    BM699279 BG202596 AU117725 BE783933 BU193528 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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


    VRK1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Bone (Muscoskeletal System)
             Bone Marrow
    VRK1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    VRK1 Protein Expression

    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

        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)
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    This gene was present in the common ancestor of animals.

    Orthologs for VRK1 gene from Selected species (see all 18)    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
    64(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 protein amino acid phosphorylation
    protein kinase
    41(a)   97D5   --
    worm
    (Caenorhabditis elegans)
    Secernentea F28B12.33
    vrk-11
    Protein kinase3
    vrk-11
    33(a)3
    46.02(n)1
    35.48(a)1
      II(5921937-5924423)3
    1740041  NM_062784.41  NP_495185.11 


    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)
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    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

    Find genes that share paralogs with VRK1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for VRK1 (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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 7 diseases for VRK1:    
    About MalaCards
    vaccinia    pontocerebellar hypoplasia type 1a    pontocerebellar hypoplasia type 1    pontocerebellar hypoplasia, type 1b
    anterior horn cell disease    pontocerebellar hypoplasia    werdnig-hoffmann disease

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

    Find genes that share disorders with VRK1           About GenesLikeMe

    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)
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    PubMed articles for VRK1 gene, integrated from 10 sources (see all 54):
    (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. (Genomics 1997)
    2. Human vaccinia-related kinase 1 (VRK1) activates the ATF2 transcriptional activity by novel phosphorylation on Thr-73 and Ser-62 and cooperates with JNK. (PubMed id 15105425)1, 2, 9 Sevilla A....Lazo P.A. (J. Biol. Chem. 2004)
    3. 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. (Oncogene 2000)
    4. Kinetic properties of p53 phosphorylation by the human vaccinia- related kinase 1. (PubMed id 11883897)1, 2, 9 Barcia R.... Lazo P.A. (Arch. Biochem. Biophys. 2002)
    5. 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. (Mol. Cell. Proteomics 2008)
    6. Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. (PubMed id 19646678)1, 2, 9 Renbaum P.... Levy-Lahad E. (Am. J. Hum. Genet. 2009)
    7. Characterization of three paralogous members of the Mammalian vaccinia related kinase family. (PubMed id 14645249)1, 2, 9 Nichols R.J. and Traktman P. (J. Biol. Chem. 2004)
    8. 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. (Clin. Infect. Dis. 2011)
    9. NMR solution structure of human vaccinia-related kinase 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. (J. Biol. Chem. 2011)
    10. Plk3 interacts with and specifically phosphorylates VRK1 in Ser342, a downstream target in a pathway that induces Golgi fragmentation. (PubMed id 19103756)1, 2 Lopez-Sanchez I.... Lazo P.A. (Mol. Cell. Biol. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 7443 HGNC: 12718 AceView: VRK1 Ensembl:ENSG00000100749 euGenes: HUgn7443
    ECgene: VRK1 H-InvDB: VRK1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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