Details for: VRK1

Gene ID: 7443

Symbol: VRK1

Ensembl ID: ENSG00000100749

Description: VRK serine/threonine kinase 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 59.0199
    Cell Significance Index: -14.9700
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 47.5546
    Cell Significance Index: -19.5900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 42.7808
    Cell Significance Index: -17.3800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 42.3831
    Cell Significance Index: -20.0100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 38.1037
    Cell Significance Index: -19.6000
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 29.8053
    Cell Significance Index: -20.0000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 18.4762
    Cell Significance Index: -17.6400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 14.6315
    Cell Significance Index: -18.0400
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 6.4660
    Cell Significance Index: -19.8600
  • Cell Name: basophilic erythroblast (CL0000549)
    Fold Change: 6.1264
    Cell Significance Index: 2.7900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.4669
    Cell Significance Index: -14.6500
  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 5.4004
    Cell Significance Index: -0.8400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.1900
    Cell Significance Index: -20.4800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.0522
    Cell Significance Index: -6.6800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 2.2118
    Cell Significance Index: 420.9300
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.8316
    Cell Significance Index: 13.8300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.4657
    Cell Significance Index: 144.9900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 1.2545
    Cell Significance Index: 55.4900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.2540
    Cell Significance Index: 70.3700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 1.2435
    Cell Significance Index: 47.0900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 1.2086
    Cell Significance Index: 32.3300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.1536
    Cell Significance Index: 231.4100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.9891
    Cell Significance Index: 354.7700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.9808
    Cell Significance Index: 58.8800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.8316
    Cell Significance Index: 135.2500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7780
    Cell Significance Index: 702.4800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.7554
    Cell Significance Index: 89.0900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.7499
    Cell Significance Index: 148.8300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.7353
    Cell Significance Index: 20.5500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.7289
    Cell Significance Index: 84.9500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.5256
    Cell Significance Index: 94.7600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.4539
    Cell Significance Index: 29.2900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.4398
    Cell Significance Index: 6.0000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3591
    Cell Significance Index: 24.8400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3310
    Cell Significance Index: 40.7000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.2961
    Cell Significance Index: 10.2900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2906
    Cell Significance Index: 128.5000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2875
    Cell Significance Index: 157.0100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.2719
    Cell Significance Index: 17.1400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.2520
    Cell Significance Index: 7.1900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2336
    Cell Significance Index: 12.1400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.2252
    Cell Significance Index: 5.6300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1944
    Cell Significance Index: 13.0700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.1641
    Cell Significance Index: 23.8600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1604
    Cell Significance Index: 11.3500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.1472
    Cell Significance Index: 4.7200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0989
    Cell Significance Index: 2.8500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0874
    Cell Significance Index: 2.3400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0864
    Cell Significance Index: 11.8700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0826
    Cell Significance Index: 1.7900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0610
    Cell Significance Index: 7.8800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.0596
    Cell Significance Index: 1.7500
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0562
    Cell Significance Index: 0.6700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0313
    Cell Significance Index: 1.4700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0306
    Cell Significance Index: 57.6300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0161
    Cell Significance Index: 0.2700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0101
    Cell Significance Index: 0.4600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0093
    Cell Significance Index: 17.1100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0081
    Cell Significance Index: 5.1600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0050
    Cell Significance Index: 7.6900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0023
    Cell Significance Index: 0.3000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0036
    Cell Significance Index: -4.9100
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.0037
    Cell Significance Index: -0.0600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0054
    Cell Significance Index: -2.4600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0180
    Cell Significance Index: -13.2300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0194
    Cell Significance Index: -14.6700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0224
    Cell Significance Index: -16.6200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0309
    Cell Significance Index: -2.3000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0342
    Cell Significance Index: -19.2600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0362
    Cell Significance Index: -22.6000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0414
    Cell Significance Index: -3.1800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0541
    Cell Significance Index: -5.5300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0553
    Cell Significance Index: -2.5800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0564
    Cell Significance Index: -9.6300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0601
    Cell Significance Index: -17.3000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0607
    Cell Significance Index: -3.1600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0630
    Cell Significance Index: -1.0800
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0699
    Cell Significance Index: -0.7600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0809
    Cell Significance Index: -9.2700
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.0858
    Cell Significance Index: -0.7900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1005
    Cell Significance Index: -2.1400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1078
    Cell Significance Index: -22.7100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1127
    Cell Significance Index: -2.8800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1168
    Cell Significance Index: -3.0700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1220
    Cell Significance Index: -7.5000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1427
    Cell Significance Index: -7.4900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1759
    Cell Significance Index: -18.3200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1823
    Cell Significance Index: -4.8900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1872
    Cell Significance Index: -6.1300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2035
    Cell Significance Index: -6.4800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2237
    Cell Significance Index: -17.7200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.2260
    Cell Significance Index: -4.7300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2813
    Cell Significance Index: -5.9700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2834
    Cell Significance Index: -17.3800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.3027
    Cell Significance Index: -4.3400
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.3178
    Cell Significance Index: -4.2400
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.3255
    Cell Significance Index: -3.3700
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.3320
    Cell Significance Index: -1.9700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.3340
    Cell Significance Index: -9.0900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** VRK1, also known as VRK serine/threonine kinase 1, is a member of the VRK family of serine/threonine kinases. This enzyme is characterized by its ability to phosphorylate serine and threonine residues on target proteins, thereby modulating their activity. VRK1 is predominantly expressed in cells undergoing rapid proliferation, such as germ cells, erythroid progenitor cells, and proerythroblasts. Its expression is also observed in cells of the nervous system, including GABAergic cortical interneurons and corticothalamic-projecting glutamatergic cortical neurons. **Pathways and Functions:** VRK1 is involved in a wide range of cellular processes, including: 1. **Cell Cycle Regulation:** VRK1 plays a crucial role in regulating cell cycle progression, particularly during the M phase. It phosphorylates and activates key proteins involved in the cell cycle, such as CDK1 and cyclin B1. 2. **DNA Damage Response:** VRK1 is involved in the DNA damage response pathway, where it phosphorylates and activates proteins involved in DNA repair, such as ATM and ATR. 3. **Histone Modifications:** VRK1 regulates histone modifications by phosphorylating histones, which in turn affects chromatin structure and gene expression. 4. **Protein Phosphorylation:** VRK1 is a protein kinase that phosphorylates and activates various proteins, including kinases, transcription factors, and signaling molecules. **Clinical Significance:** The clinical significance of VRK1 is multifaceted, with implications for various diseases and disorders. Some of the key clinical implications of VRK1 include: 1. **Cancer:** Dysregulation of VRK1 has been implicated in various cancers, including breast, lung, and colon cancer. Overexpression of VRK1 has been observed in tumor tissues, suggesting its potential role as a oncogene. 2. **Neurological Disorders:** VRK1 has been implicated in neurological disorders, such as Alzheimer's disease and Parkinson's disease. Its role in regulating histone modifications and protein phosphorylation makes it a potential target for therapeutic intervention. 3. **Immune System:** VRK1 is expressed in immune cells, including T cells and B cells, and has been implicated in the regulation of immune responses. Its dysregulation may contribute to autoimmune diseases, such as rheumatoid arthritis and lupus. In conclusion, VRK1 is a multifunctional enzyme with a wide range of cellular expressions and implications for various diseases and disorders. Further research is necessary to fully elucidate its role in cellular processes and to explore its therapeutic potential. As an immunologist, I believe that VRK1 is an exciting area of study that holds great promise for the development of novel therapeutic interventions.

Genular Protein ID: 2939901478

Symbol: VRK1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q99986 Q3SYL2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChEBI 12 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 2 EMBL 4 EMDB 1 Ensembl 5 EvolutionaryTrace 1 ExpressionAtlas 1 GO 30 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 24 PDBsum 24 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 6 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9344656

Title: Identification of two novel human putative serine/threonine kinases, VRK1 and VRK2, with structural similarity to Vaccinia virus B1R kinase.

PubMed ID: 9344656

DOI: 10.1006/geno.1997.4938

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10951572

Title: 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

DOI: 10.1038/sj.onc.1203709

PubMed ID: 11883897

Title: Kinetic properties of p53 phosphorylation by the human vaccinia-related kinase 1.

PubMed ID: 11883897

DOI: 10.1006/abbi.2001.2746

PubMed ID: 14645249

Title: Characterization of three paralogous members of the Mammalian vaccinia related kinase family.

PubMed ID: 14645249

DOI: 10.1074/jbc.m310813200

PubMed ID: 15105425

Title: 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

DOI: 10.1074/jbc.m401009200

PubMed ID: 16704422

Title: The subcellular localization of vaccinia-related kinase-2 (VRK2) isoforms determines their different effect on p53 stability in tumour cell lines.

PubMed ID: 16704422

DOI: 10.1111/j.1742-4658.2006.05256.x

PubMed ID: 16495336

Title: The vaccinia-related kinases phosphorylate the N' terminus of BAF, regulating its interaction with DNA and its retention in the nucleus.

PubMed ID: 16495336

DOI: 10.1091/mbc.e05-12-1179

PubMed ID: 18617507

Title: Proteomics identification of nuclear Ran GTPase as an inhibitor of human VRK1 and VRK2 (vaccinia-related kinase) activities.

PubMed ID: 18617507

DOI: 10.1074/mcp.m700586-mcp200

PubMed ID: 19103756

Title: Plk3 interacts with and specifically phosphorylates VRK1 in Ser342, a downstream target in a pathway that induces Golgi fragmentation.

PubMed ID: 19103756

DOI: 10.1128/mcb.01341-08

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 33076429

Title: VRK1 phosphorylates Tip60/KAT5 and is required for H4K16 acetylation in response to DNA Damage.

PubMed ID: 33076429

DOI: 10.3390/cancers12102986

PubMed ID: 33177193

Title: The Vaccinia Virus B12 Pseudokinase Represses Viral Replication via Interaction with the Cellular Kinase VRK1 and Activation of the Antiviral Effector BAF.

PubMed ID: 33177193

DOI: 10.1128/jvi.02114-20

PubMed ID: 37179361

Title: The pattern of histone H3 epigenetic posttranslational modifications is regulated by the VRK1 chromatin kinase.

PubMed ID: 37179361

DOI: 10.1186/s13072-023-00494-7

PubMed ID: 21543316

Title: 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

DOI: 10.1074/jbc.m110.200162

PubMed ID: 35390161

Title: Multivalent DNA and nucleosome acidic patch interactions specify VRK1 mitotic localization and activity.

PubMed ID: 35390161

DOI: 10.1093/nar/gkac198

PubMed ID: 19646678

Title: Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene.

PubMed ID: 19646678

DOI: 10.1016/j.ajhg.2009.07.006

PubMed ID: 21920476

Title: Substrate profiling of human vaccinia-related kinases identifies coilin, a Cajal body nuclear protein, as a phosphorylation target with neurological implications.

PubMed ID: 21920476

DOI: 10.1016/j.jprot.2011.08.019

PubMed ID: 21937992

Title: Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

PubMed ID: 21937992

DOI: 10.1038/nature10423

PubMed ID: 24126608

Title: Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly.

PubMed ID: 24126608

DOI: 10.1001/jamaneurol.2013.4598

PubMed ID: 26583493

Title: Expanding Phenotype of VRK1 Mutations in Motor Neuron Disease.

PubMed ID: 26583493

DOI: 10.1097/cnd.0000000000000096

PubMed ID: 25609612

Title: The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-beta precursor protein-dependent mechanism.

PubMed ID: 25609612

DOI: 10.1523/jneurosci.1998-14.2015

PubMed ID: 27281532

Title: Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia.

PubMed ID: 27281532

DOI: 10.1212/wnl.0000000000002813

PubMed ID: 30847374

Title: A novel VRK1 mutation associated with recessive distal hereditary motor neuropathy.

PubMed ID: 30847374

DOI: 10.1002/acn3.701

PubMed ID: 31090908

Title: Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1.

PubMed ID: 31090908

DOI: 10.1093/hmg/ddz060

PubMed ID: 30617279

Title: A novel mutation in VRK1 associated with distal spinal muscular atrophy.

PubMed ID: 30617279

DOI: 10.1038/s10038-018-0553-5

PubMed ID: 31527692

Title: VRK1 functional insufficiency due to alterations in protein stability or kinase activity of human VRK1 pathogenic variants implicated in neuromotor syndromes.

PubMed ID: 31527692

DOI: 10.1038/s41598-019-49821-7

PubMed ID: 32365420

Title: VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy.

PubMed ID: 32365420

DOI: 10.1002/acn3.51050

PubMed ID: 32298515

Title: Molecular analysis and clinical diversity of distal hereditary motor neuropathy.

PubMed ID: 32298515

DOI: 10.1111/ene.14260

PubMed ID: 31837156

Title: Identification of a homozygous VRK1 mutation in two patients with adult-onset distal hereditary motor neuropathy.

PubMed ID: 31837156

DOI: 10.1002/mus.26779

PubMed ID: 34504951

Title: Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia.

PubMed ID: 34504951

DOI: 10.1212/nxg.0000000000000624

Sequence Information:

  • Length: 396
  • Mass: 45476
  • Checksum: 5640C624BF059949
  • Sequence:
    • MPRVKAAQAG RQSSAKRHLA EQFAVGEIIT DMAKKEWKVG LPIGQGGFGC IYLADMNSSE 
SVGSDAPCVV KVEPSDNGPL FTELKFYQRA AKPEQIQKWI RTRKLKYLGV PKYWGSGLHD 
KNGKSYRFMI MDRFGSDLQK IYEANAKRFS RKTVLQLSLR ILDILEYIHE HEYVHGDIKA 
SNLLLNYKNP DQVYLVDYGL AYRYCPEGVH KEYKEDPKRC HDGTIEFTSI DAHNGVAPSR 
RGDLEILGYC MIQWLTGHLP WEDNLKDPKY VRDSKIRYRE NIASLMDKCF PEKNKPGEIA 
KYMETVKLLD YTEKPLYENL RDILLQGLKA IGSKDDGKLD LSVVENGGLK AKTITKKRKK 
EIEESKEPGV EDTEWSNTQT EEAIQTRSRT RKRVQK

Genular Protein ID: 2162860704

Symbol: A0A7P0TB08_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A7P0TB08

Database IDs:

ARBA 4 Bgee 1 CTD 1 ChEBI 1 DisGeNET 1 EMBL 1 Ensembl 4 GO 4 Gene3D 1 GeneTree 1 HGNC 1 InterPro 5 NCBI Taxonomy 1 PANTHER 2 PROSITE 4 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 1 RuleBase 1 SMART 1 SUPFAM 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 12508121

Title: The DNA sequence and analysis of human chromosome 14.

PubMed ID: 12508121

DOI: 10.1038/nature01348

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 244
  • Mass: 27864
  • Checksum: 345FD49AFD10C606
  • Sequence:
    • MPRVKAAQAG RQSSAKRHLA EQFAVGEIIT DMAKKEWKVG LPIGQGGFGC IYLADMNSSE 
SVGSDAPCVV KVEPSDNGPL FTELKFYQRA AKPEQIQKWI RTRKLKYLGV PKYWGSGLHD 
KNGKSYRFMI MDRFGSDLQK IYEANAKRFS RKTVLQLSLR ILDILEYIHE HEYVHGDIKA 
SNLLLNYKNP DQVYLVDYGL AYRYCPEGVH KEYKEDPKRC HDGTIEFTSI DAHNGVDTEK 
ILQV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.