Human Gene VRK1 (ENST00000216639.8_8) from GENCODE V47lift37
  Description: VRK serine/threonine kinase 1 (from RefSeq NM_003384.3)
Gencode Transcript: ENST00000216639.8_8
Gencode Gene: ENSG00000100749.9_16
Transcript (Including UTRs)
   Position: hg19 chr14:97,263,719-97,347,946 Size: 84,228 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr14:97,299,809-97,347,545 Size: 47,737 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:97,263,719-97,347,946)mRNA (may differ from genome)Protein (396 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: VRK1_HUMAN
DESCRIPTION: RecName: Full=Serine/threonine-protein kinase VRK1; EC=2.7.11.1; AltName: Full=Vaccinia-related kinase 1;
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.
INTERACTION: P15336:ATF2; NbExp=5; IntAct=EBI-1769146, EBI-1170906; P38432:COIL; NbExp=9; IntAct=EBI-1769146, EBI-945751; P05412:JUN; NbExp=4; IntAct=EBI-1769146, EBI-852823; Q9H4B4:PLK3; NbExp=12; IntAct=EBI-1769146, EBI-751877; P62826:RAN; NbExp=12; IntAct=EBI-1769146, EBI-286642; Q12888:TP53BP1; NbExp=8; IntAct=EBI-1769146, EBI-396540;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, spindle (By similarity). Note=Dispersed throughout the cell but not located on mitotic spindle or chromatids during mitosis.
TISSUE SPECIFICITY: Widely expressed. Highly expressed in fetal liver, testis and thymus.
PTM: 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.
DISEASE: 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).
SIMILARITY: Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family. VRK subfamily.
SIMILARITY: Contains 1 protein kinase domain.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/VRK1ID43556ch14q32.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: VRK1
Diseases sorted by gene-association score: pontocerebellar hypoplasia type 1a* (1000), microcephaly-complex motor and sensory axonal neuropathy syndrome* (350), pontocerebellar hypoplasia type 1* (202), vaccinia (77), pontocerebellar hypoplasia (12), pontocerebellar hypoplasia type 5 (11), congenital contractures (9), pontocerebellar hypoplasia, type 6 (7), anterior horn cell disease (7), survival motor neuron spinal muscular atrophy (6), spinal muscular atrophy-1 (5), muscular atrophy (5), mental retardation and microcephaly with pontine and cerebellar hypoplasia (5), spinal muscular atrophy (5), microcephaly (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.01 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 174.84 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -19.0071-0.268 Picture PostScript Text
3' UTR -60.80401-0.152 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011009 - Kinase-like_dom
IPR000719 - Prot_kinase_cat_dom
IPR017441 - Protein_kinase_ATP_BS
IPR008271 - Ser/Thr_kinase_AS

Pfam Domains:
PF00069 - Protein kinase domain
PF03109 - ABC1 atypical kinase-like domain
PF07714 - Protein tyrosine and serine/threonine kinase

SCOP Domains:
56112 - Protein kinase-like (PK-like)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2KTY - NMR MuPIT 2KUL - NMR MuPIT 2LAV - NMR MuPIT 3OP5 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q99986
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0019901 protein kinase binding
GO:0031493 nucleosomal histone binding
GO:0035175 histone kinase activity (H3-S10 specific)
GO:0072354 histone kinase activity (H3-T3 specific)

Biological Process:
GO:0006468 protein phosphorylation
GO:0007049 cell cycle
GO:0007077 mitotic nuclear envelope disassembly
GO:0007084 mitotic nuclear envelope reassembly
GO:0008360 regulation of cell shape
GO:0016310 phosphorylation
GO:0043987 histone H3-S10 phosphorylation
GO:0046777 protein autophosphorylation
GO:0051301 cell division
GO:0072355 histone H3-T3 phosphorylation
GO:0090166 Golgi disassembly

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005795 Golgi stack
GO:0005819 spindle
GO:0005829 cytosol
GO:0005856 cytoskeleton


-  Descriptions from all associated GenBank mRNAs
  AK290110 - Homo sapiens cDNA FLJ75441 complete cds, highly similar to Homo sapiens vaccinia related kinase 1 (VRK1), mRNA.
BC103761 - Homo sapiens vaccinia related kinase 1, mRNA (cDNA clone MGC:117401 IMAGE:5773877), complete cds.
AB000449 - Homo sapiens mRNA for VRK1, complete cds.
BC112075 - Homo sapiens vaccinia related kinase 1, mRNA (cDNA clone MGC:138280 IMAGE:8327543), complete cds.
BC113510 - Homo sapiens vaccinia related kinase 1, mRNA (cDNA clone MGC:142070 IMAGE:8322562), complete cds.
BC005970 - Homo sapiens cDNA clone IMAGE:4077672, containing frame-shift errors.
AB528906 - Synthetic construct DNA, clone: pF1KE0676, Homo sapiens VRK1 gene for vaccinia related kinase 1, without stop codon, in Flexi system.
KJ897737 - Synthetic construct Homo sapiens clone ccsbBroadEn_07131 VRK1 gene, encodes complete protein.
JD357614 - Sequence 338638 from Patent EP1572962.
JD551231 - Sequence 532255 from Patent EP1572962.
JD251834 - Sequence 232858 from Patent EP1572962.
JD327834 - Sequence 308858 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q99986 (Reactome details) participates in the following event(s):

R-HSA-2995389 ANKLE2 binds VRK1 or VRK2
R-HSA-2993898 VRK1/VRK2 phosphorylate BANF1
R-HSA-2995383 Initiation of Nuclear Envelope Reformation
R-HSA-2993913 Clearance of Nuclear Envelope Membranes from Chromatin
R-HSA-2995410 Nuclear Envelope Reassembly
R-HSA-2980766 Nuclear Envelope Breakdown
R-HSA-68882 Mitotic Anaphase
R-HSA-68875 Mitotic Prophase
R-HSA-2555396 Mitotic Metaphase and Anaphase
R-HSA-68886 M Phase
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000216639.1, ENST00000216639.2, ENST00000216639.3, ENST00000216639.4, ENST00000216639.5, ENST00000216639.6, ENST00000216639.7, NM_003384, Q3SYL2, Q99986, uc317crr.1, uc317crr.2, VRK1 , VRK1_HUMAN
UCSC ID: ENST00000216639.8_8
RefSeq Accession: NM_003384.3
Protein: Q99986 (aka VRK1_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.