Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

PMVK (phosphomevalonate kinase)

Identity

Alias (NCBI)HUMPMKI
PMK
PMKA
PMKASE
POROK1
HGNC (Hugo) PMVK
HGNC Alias symbPMK
PMKA
HUMPMKI
LocusID (NCBI) 10654
Atlas_Id 54546
Location 1q21.3  [Link to chromosome band 1q21]
Location_base_pair Starts at 154924740 and ends at 154936719 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ASPA (17p13.2) / PMVK (1q21.3)FKBP4 (12p13.33) / PMVK (1q21.3)PBXIP1 (1q21.3) / PMVK (1q21.3)
PMVK (1q21.3) / IKBKAP (9q31.3)PMVK (1q21.3) / PMVK (1q21.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)PMVK   9141
Cards
Entrez_Gene (NCBI)PMVK    phosphomevalonate kinase
AliasesHUMPMKI; PMK; PMKA; PMKASE; 
POROK1
GeneCards (Weizmann)PMVK
Ensembl hg19 (Hinxton)ENSG00000163344 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163344 [Gene_View]  ENSG00000163344 [Sequence]  chr1:154924740-154936719 [Contig_View]  PMVK [Vega]
ICGC DataPortalENSG00000163344
TCGA cBioPortalPMVK
AceView (NCBI)PMVK
Genatlas (Paris)PMVK
SOURCE (Princeton)PMVK
Genetics Home Reference (NIH)PMVK
Genomic and cartography
GoldenPath hg38 (UCSC)PMVK  -     chr1:154924740-154936719 -  1q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PMVK  -     1q21.3   [Description]    (hg19-Feb_2009)
GoldenPathPMVK - 1q21.3 [CytoView hg19]  PMVK - 1q21.3 [CytoView hg38]
ImmunoBaseENSG00000163344
Genome Data Viewer NCBIPMVK [Mapview hg19]  
OMIM175800   607622   
Gene and transcription
Genbank (Entrez)AK130234 AK312803 BC006089 BC007694 BF221848
RefSeq transcript (Entrez)NM_001323011 NM_001323012 NM_001348696 NM_006556
Consensus coding sequences : CCDS (NCBI)PMVK
Gene ExpressionPMVK [ NCBI-GEO ]   PMVK [ EBI - ARRAY_EXPRESS ]   PMVK [ SEEK ]   PMVK [ MEM ]
Gene Expression Viewer (FireBrowse)PMVK [ Firebrowse - Broad ]
GenevisibleExpression of PMVK in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10654
GTEX Portal (Tissue expression)PMVK
Human Protein AtlasENSG00000163344-PMVK [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15126   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15126  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15126
PhosPhoSitePlusQ15126
Domains : Interpro (EBI)P-loop_NTPase    Pmev_kin_anim   
Domain families : Pfam (Sanger)P-mevalo_kinase (PF04275)   
Domain families : Pfam (NCBI)pfam04275   
Conserved Domain (NCBI)PMVK
PDB (RSDB)3CH4   
PDB Europe3CH4   
PDB (PDBSum)3CH4   
PDB (IMB)3CH4   
Structural Biology KnowledgeBase3CH4   
SCOP (Structural Classification of Proteins)3CH4   
CATH (Classification of proteins structures)3CH4   
SuperfamilyQ15126
AlphaFold pdb e-kbQ15126   
Human Protein Atlas [tissue]ENSG00000163344-PMVK [tissue]
HPRD07404
Protein Interaction databases
DIP (DOE-UCLA)Q15126
IntAct (EBI)Q15126
BioGRIDPMVK
STRING (EMBL)PMVK
ZODIACPMVK
Ontologies - Pathways
QuickGOQ15126
Ontology : AmiGOphosphomevalonate kinase activity  phosphomevalonate kinase activity  protein binding  ATP binding  peroxisome  peroxisome  cytosol  cytosol  cholesterol biosynthetic process  cholesterol biosynthetic process  cholesterol biosynthetic process  membrane  sterol biosynthetic process  phosphorylation  regulation of lipid metabolic process  isopentenyl diphosphate biosynthetic process, mevalonate pathway  isopentenyl diphosphate biosynthetic process, mevalonate pathway  extracellular exosome  response to cholesterol  
Ontology : EGO-EBIphosphomevalonate kinase activity  phosphomevalonate kinase activity  protein binding  ATP binding  peroxisome  peroxisome  cytosol  cytosol  cholesterol biosynthetic process  cholesterol biosynthetic process  cholesterol biosynthetic process  membrane  sterol biosynthetic process  phosphorylation  regulation of lipid metabolic process  isopentenyl diphosphate biosynthetic process, mevalonate pathway  isopentenyl diphosphate biosynthetic process, mevalonate pathway  extracellular exosome  response to cholesterol  
Pathways : KEGGTerpenoid backbone biosynthesis    Peroxisome   
NDEx NetworkPMVK
Atlas of Cancer Signalling NetworkPMVK
Wikipedia pathwaysPMVK
Orthology - Evolution
OrthoDB10654
GeneTree (enSembl)ENSG00000163344
Phylogenetic Trees/Animal Genes : TreeFamPMVK
Homologs : HomoloGenePMVK
Homology/Alignments : Family Browser (UCSC)PMVK
Gene fusions - Rearrangements
Fusion : MitelmanPBXIP1/PMVK [1q21.3/1q21.3]  
Fusion : QuiverPMVK
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPMVK [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PMVK
dbVarPMVK
ClinVarPMVK
MonarchPMVK
1000_GenomesPMVK 
Exome Variant ServerPMVK
GNOMAD BrowserENSG00000163344
Varsome BrowserPMVK
ACMGPMVK variants
VarityQ15126
Genomic Variants (DGV)PMVK [DGVbeta]
DECIPHERPMVK [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPMVK 
Mutations
ICGC Data PortalPMVK 
TCGA Data PortalPMVK 
Broad Tumor PortalPMVK
OASIS PortalPMVK [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPMVK  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPMVK
Mutations and Diseases : HGMDPMVK
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPMVK
DgiDB (Drug Gene Interaction Database)PMVK
DoCM (Curated mutations)PMVK
CIViC (Clinical Interpretations of Variants in Cancer)PMVK
Cancer3DPMVK
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM175800    607622   
Orphanet8653   
DisGeNETPMVK
MedgenPMVK
Genetic Testing Registry PMVK
NextProtQ15126 [Medical]
GENETestsPMVK
Target ValidationPMVK
Huge Navigator PMVK [HugePedia]
ClinGenPMVK
Clinical trials, drugs, therapy
MyCancerGenomePMVK
Protein Interactions : CTDPMVK
Pharm GKB GenePA33465
PharosQ15126
Clinical trialPMVK
Miscellaneous
canSAR (ICR)PMVK
HarmonizomePMVK
DataMed IndexPMVK
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPMVK
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:25:54 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.