VRK1 Gene (Protein Coding)

VRK Serine/Threonine Kinase 1

GC14P096797
GIFtS:
49
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 ... See more...

Aliases for VRK1 Gene

Aliases for VRK1 Gene

  • VRK Serine/Threonine Kinase 1 2 3 5
  • Serine/Threonine-Protein Kinase VRK1 3 4
  • Vaccinia Related Kinase 1 2 3
  • EC 2.7.11.1 4 51
  • Vaccinia Virus B1R-Related Kinase 1 3
  • Vaccinia-Related Kinase 1 4
  • PCH1A 3
  • PCH1 3
  • VRK1 5

External Ids for VRK1 Gene

Previous GeneCards Identifiers for VRK1 Gene

  • GC14P094774
  • GC14P091080
  • GC14P095253
  • GC14P096333
  • GC14P097263
  • GC14P077447

Summaries for VRK1 Gene

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 (VRK Serine/Threonine Kinase 1) is a Protein Coding gene. Diseases associated with VRK1 include Pontocerebellar Hypoplasia, Type 1A and Pontocerebellar Hypoplasia Type 1. Among its related pathways are Initiation of Nuclear Envelope Reformation and Mitotic Metaphase and Anaphase. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein serine/threonine kinase activity. An important paralog of this gene is VRK2.

UniProtKB/Swiss-Prot Summary for VRK1 Gene

  • 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

Additional gene information for VRK1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for VRK1 Gene

Genomics for VRK1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for VRK1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH14J096796 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 258.3 +0.6 597 3.4 CHD2 TBP SP1 SIX5 NR2C1 MNT IKZF1 SMAD5 ETS1 IRF2 VRK1 ATG2B HSALNG0103531
GH14J096741 Promoter 1.6 EPDnew Ensembl CraniofacialAtlas 250.2 -55.8 -55803 1 ZBTB10 CTCF ZIC2 ZNF610 SIN3A REST TRIM22 SMC3 GABPB1 RAD21 LINC02299 VRK1 piR-59962 lnc-ATG2B-18 ENSG00000287772 PAPOLA
GH14J096888 Enhancer 1.2 UCNEbase Ensembl 11.2 +91.5 91497 2 FEZF1 ZIC2 ZNF513 KLF7 ZNF341 ZNF843 ZNF146 BCL11B PRDM6 CBFB PAPOLA VRK1 ATG2B HSALNG0103532 piR-31199-111
GH14J096824 Enhancer 0.6 Ensembl ENCODE 19.7 +28.6 28592 3.4 ZIC2 ZBTB33 EGR2 ZFHX2 PRDM1 VRK1 HSALNG0103531
GH14J096821 Enhancer 0.4 Ensembl ENCODE 18.9 +24.3 24334 0.9 PRDM10 VRK1 HSALNG0103531
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around VRK1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VRK1

Top Transcription factor binding sites by QIAGEN in the VRK1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • HSF2
  • ITF-2
  • p300
  • p53
  • POU2F1
  • POU2F1a
  • Tal-1beta

Genomic Locations for VRK1 Gene

Latest Assembly
chr14:96,797,304-96,954,846
(GRCh38/hg38)
Size:
157,543 bases
Orientation:
Plus strand

Previous Assembly
chr14:97,263,719-97,347,946
(GRCh37/hg19 by Entrez Gene)
Size:
84,228 bases
Orientation:
Plus strand

chr14:97,263,641-97,398,059
(GRCh37/hg19 by Ensembl)
Size:
134,419 bases
Orientation:
Plus strand

Genomic View for VRK1 Gene

Genes around VRK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VRK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VRK1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for VRK1 Gene

Proteins for VRK1 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for VRK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99986-VRK1_HUMAN
    Recommended name:
    Serine/threonine-protein kinase VRK1
    Protein Accession:
    Q99986
    Secondary Accessions:
    • Q3SYL2

    Protein attributes for VRK1 Gene

    Size:
    396 amino acids
    Molecular mass:
    45476 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for VRK1 Gene

neXtProt entry for VRK1 Gene

Protein Expression for VRK1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for VRK1 Gene

Q99986:
  • YLGVPKYWGSG
  • EYVHGDIKA
  • KVEPSDNGPLF
  • DLEILGY
  • LDILEYIH
  • LVDYGLAYRY
  • FTELKFYQ

Post-translational modifications for VRK1 Gene

  • 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.
  • Ubiquitination at Lys85, Lys112, Lys188, Lys301, Lys307, Lys314, and Lys329
  • Modification sites at PhosphoSitePlus

Other Protein References for VRK1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for VRK1

Domains & Families for VRK1 Gene

Gene Families for VRK1 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for VRK1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for VRK1 Gene

GenScript: Design optimal peptide antigens:
  • Vaccinia-related kinase 1 (VRK1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q99986

UniProtKB/Swiss-Prot:

VRK1_HUMAN :
  • Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family. VRK subfamily.
Family:
  • Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family. VRK subfamily.
genes like me logo Genes that share domains with VRK1: view

Function for VRK1 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for VRK1 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269|PubMed:21543316};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269|PubMed:21543316};.
UniProtKB/Swiss-Prot EnzymeRegulation:
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:
vaccinia-related kinase 1,widely expressed

Enzyme Numbers (IUBMB) for VRK1 Gene

Phenotypes From GWAS Catalog for VRK1 Gene

Gene Ontology (GO) - Molecular Function for VRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA,IDA 22194607
GO:0004674 protein serine/threonine kinase activity IDA 21543316
GO:0005515 protein binding IPI 15105425
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with VRK1: view
genes like me logo Genes that share phenotypes with VRK1: view

Human Phenotype Ontology for VRK1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

  • Taconic Biosciences Mouse Models for VRK1

miRNA for VRK1 Gene

miRTarBase miRNAs that target VRK1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VRK1

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for VRK1 Gene

Localization for VRK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VRK1 Gene

Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, spindle. Note=Dispersed throughout the cell but not located on mitotic spindle or chromatids during mitosis.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for VRK1 gene
Compartment Confidence
nucleus 5
cytosol 5
golgi apparatus 5
cytoskeleton 4
mitochondrion 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for VRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 22194607
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IBA 21873635
GO:0005795 Golgi stack IDA 19103756
genes like me logo Genes that share ontologies with VRK1: view

Pathways & Interactions for VRK1 Gene

genes like me logo Genes that share pathways with VRK1: view

Pathways by source for VRK1 Gene

1 Cell Signaling Technology pathway for VRK1 Gene

SIGNOR curated interactions for VRK1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for VRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA,IDA 22194607
GO:0007049 cell cycle IEA --
GO:0007077 mitotic nuclear envelope disassembly TAS --
GO:0007084 mitotic nuclear envelope reassembly TAS --
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with VRK1: view

Drugs & Compounds for VRK1 Gene

Products:

  1. Drug products for research

(1) Drugs for VRK1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ATP Investigational Nutra 0

(1) Additional Compounds for VRK1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 58-64-0
genes like me logo Genes that share compounds with VRK1: view

Transcripts for VRK1 Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for VRK1 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
63 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VRK1

Alternative Splicing Database (ASD) splice patterns (SP) for VRK1 Gene

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

Relevant External Links for VRK1 Gene

GeneLoc Exon Structure for
VRK1

Expression for VRK1 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for VRK1 Gene

mRNA expression in normal human tissues for VRK1 Gene
mRNA expression by BioGPS for VRK1 GenemRNA expression by GTEx for VRK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for VRK1 Gene

This gene is overexpressed in Testis (12.8), Peripheral blood mononuclear cells (10.9), Blymphocyte (9.0), and CD8 Tcells (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for VRK1 Gene



Protein tissue co-expression partners for VRK1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VRK1

SOURCE GeneReport for Unigene cluster for VRK1 Gene:

Hs.422662

mRNA Expression by UniProt/SwissProt for VRK1 Gene:

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

Evidence on tissue expression from TISSUES for VRK1 Gene

  • Nervous system(4.5)
  • Lung(4.4)
  • Liver(4.3)
  • Blood(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for VRK1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tongue
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with VRK1: view

Primer products for research

No data available for mRNA differential expression in normal tissues for VRK1 Gene

Orthologs for VRK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for VRK1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia VRK1 30 31
  • 99.49 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia VRK1 30 31
  • 90.4 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia VRK1 30 31
  • 90.07 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Vrk1 30
  • 85.44 (n)
Mouse
(Mus musculus)
 Mammalia Vrk1 30 17 31
  • 83.76 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia VRK1 31
  • 82 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia VRK1 31
  • 75 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves VRK1 30 31
  • 73.76 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia VRK1 31
  • 64 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia vrk1 30
  • 68.37 (n)
MGC75762 30
African clawed frog
(Xenopus laevis)
 Amphibia vrk1-prov 30
Zebrafish
(Danio rerio)
 Actinopterygii vrk1 30 31
  • 64.33 (n)
 OneToOne
wufe16f06 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.4919 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001933 30
  • 46.81 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta BcDNA:LD09009 32
  • 41 (a)
ball 31
  • 25 (a)
 ManyToMany
CG8878 31
  • 12 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea vrk-1 30 31
  • 46.02 (n)
 OneToMany
F28B12.3 32
  • 33 (a)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.6830 31
  • 47 (a)
 OneToMany
Species where no ortholog for VRK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for VRK1 Gene

ENSEMBL:
Gene Tree for VRK1 (if available)
TreeFam:
Gene Tree for VRK1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for VRK1: view image

Paralogs for VRK1 Gene

Paralogs for VRK1 Gene

(3) SIMAP similar genes for VRK1 Gene using alignment to 4 proteins:

  • VRK1_HUMAN
  • H0YJ50_HUMAN
  • H0YJF7_HUMAN
  • H0YJJ9_HUMAN
genes like me logo Genes that share paralogs with VRK1: view

Variants for VRK1 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VRK1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
834310 Uncertain Significance: Pontocerebellar hypoplasia type 1 96,852,939(+) T/A
NM_003384.3(VRK1):c.483T>A (p.Ile161=) 		SYNONYMOUS
837802 Uncertain Significance: Pontocerebellar hypoplasia type 1 96,860,671(+) A/T
NM_003384.3(VRK1):c.1004A>T (p.Asp335Val) 		MISSENSE
837803 Uncertain Significance: Pontocerebellar hypoplasia type 1 96,853,141(+) T/A
NM_003384.3(VRK1):c.551T>A (p.Leu184His) 		MISSENSE
839347 Uncertain Significance: Pontocerebellar hypoplasia type 1 96,852,895(+) A/G
NM_003384.3(VRK1):c.439A>G (p.Lys147Glu) 		MISSENSE
842535 Likely Pathogenic: Pontocerebellar hypoplasia type 1 96,852,852(+) TCGCTTTGGGAGTGAC
NM_003384.3(VRK1):c.402_890-895del 		SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for VRK1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for VRK1 Gene

Variant ID Type Subtype PubMed ID
dgv1964n100 CNV gain 25217958
esv3303068 CNV tandem duplication 20981092
esv3581399 CNV loss 25503493
esv3635428 CNV loss 21293372
nsv1043916 CNV gain 25217958
nsv1051182 CNV loss 25217958
nsv510650 CNV deletion 20534489

Variation tolerance for VRK1 Gene

Residual Variation Intolerance Score: 29.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.83; 17.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VRK1 Gene

Human Gene Mutation Database (HGMD)
VRK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
VRK1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VRK1 Gene

Disorders for VRK1 Gene

MalaCards: The human disease database

(21) MalaCards diseases for VRK1 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search VRK1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

VRK1_HUMAN
  • 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. {ECO:0000269 PubMed:19646678}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for VRK1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with VRK1: view

No data available for Genatlas for VRK1 Gene

Publications for VRK1 Gene

  1. Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. (PMID: 19646678) Renbaum P … Levy-Lahad E (American journal of human genetics 2009) 3 4 23 74
  2. Proteomics identification of nuclear Ran GTPase as an inhibitor of human VRK1 and VRK2 (vaccinia-related kinase) activities. (PMID: 18617507) Sanz-García M … Lazo PA (Molecular & cellular proteomics : MCP 2008) 3 4 23
  3. Human vaccinia-related kinase 1 (VRK1) activates the ATF2 transcriptional activity by novel phosphorylation on Thr-73 and Ser-62 and cooperates with JNK. (PMID: 15105425) Sevilla A … Lazo PA (The Journal of biological chemistry 2004) 3 4 23
  4. Characterization of three paralogous members of the Mammalian vaccinia related kinase family. (PMID: 14645249) Nichols RJ … Traktman P (The Journal of biological chemistry 2004) 3 4 23
  5. Kinetic properties of p53 phosphorylation by the human vaccinia-related kinase 1. (PMID: 11883897) Barcia R … Lazo PA (Archives of biochemistry and biophysics 2002) 3 4 23

ExternalLinks

View latest publications for VRK1 gene in Mastermind

Products for VRK1 Gene

  • Addgene plasmids for VRK1

Sources for VRK1 Gene