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PMVK (phosphomevalonate kinase)

Identity

Alias_symbol (synonym)PMK
PMKA
HUMPMKI
Other aliasPMKASE
POROK1
HGNC (Hugo) PMVK
LocusID (NCBI) 10654
Atlas_Id 54546
Location 1q21.3  [Link to chromosome band 1q21]
Location_base_pair Starts at 154924732 and ends at 154936633 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
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  10654  phosphomevalonate kinase
AliasesHUMPMKI; PMK; PMKA; PMKASE; 
POROK1
GeneCards (Weizmann)PMVK
Ensembl hg19 (Hinxton)ENSG00000163344 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163344 [Gene_View]  chr1:154924732-154936633 [Contig_View]  PMVK [Vega]
ICGC DataPortalENSG00000163344
TCGA cBioPortalPMVK
AceView (NCBI)PMVK
Genatlas (Paris)PMVK
WikiGenes10654
SOURCE (Princeton)PMVK
Genetics Home Reference (NIH)PMVK
Genomic and cartography
GoldenPath hg38 (UCSC)PMVK  -     chr1:154924732-154936633 -  1q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PMVK  -     1q21.3   [Description]    (hg19-Feb_2009)
EnsemblPMVK - 1q21.3 [CytoView hg19]  PMVK - 1q21.3 [CytoView hg38]
Mapping of homologs : NCBIPMVK [Mapview hg19]  PMVK [Mapview hg38]
OMIM175800   607622   
Gene and transcription
Genbank (Entrez)AK130234 AK312803 BC006089 BC007694 BF221848
RefSeq transcript (Entrez)NM_001323011 NM_001323012 NM_001348696 NM_006556
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PMVK
Cluster EST : UnigeneHs.30954 [ NCBI ]
CGAP (NCI)Hs.30954
Alternative Splicing GalleryENSG00000163344
Gene ExpressionPMVK [ NCBI-GEO ]   PMVK [ EBI - ARRAY_EXPRESS ]   PMVK [ SEEK ]   PMVK [ MEM ]
Gene Expression Viewer (FireBrowse)PMVK [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10654
GTEX Portal (Tissue expression)PMVK
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
Splice isoforms : SwissVarQ15126
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
DMDM Disease mutations10654
Blocks (Seattle)PMVK
PDB (SRS)3CH4   
PDB (PDBSum)3CH4   
PDB (IMB)3CH4   
PDB (RSDB)3CH4   
Structural Biology KnowledgeBase3CH4   
SCOP (Structural Classification of Proteins)3CH4   
CATH (Classification of proteins structures)3CH4   
SuperfamilyQ15126
Human Protein AtlasENSG00000163344
Peptide AtlasQ15126
HPRD07404
IPIIPI00220648   IPI00977942   
Protein Interaction databases
DIP (DOE-UCLA)Q15126
IntAct (EBI)Q15126
FunCoupENSG00000163344
BioGRIDPMVK
STRING (EMBL)PMVK
ZODIACPMVK
Ontologies - Pathways
QuickGOQ15126
Ontology : AmiGOphosphomevalonate kinase activity  phosphomevalonate kinase activity  ATP binding  peroxisome  cytosol  cytosol  cholesterol biosynthetic process  cholesterol biosynthetic process  membrane  sterol biosynthetic process  phosphorylation  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  ATP binding  peroxisome  cytosol  cytosol  cholesterol biosynthetic process  cholesterol biosynthetic process  membrane  sterol biosynthetic process  phosphorylation  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
HOVERGENQ15126
HOGENOMQ15126
Homologs : HomoloGenePMVK
Homology/Alignments : Family Browser (UCSC)PMVK
Gene fusions - Rearrangements
Fusion : MitelmanPBXIP1/PMVK [1q21.3/1q21.3]  [t(1;1)(q21;q21)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPMVK [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PMVK
dbVarPMVK
ClinVarPMVK
1000_GenomesPMVK 
Exome Variant ServerPMVK
ExAC (Exome Aggregation Consortium)PMVK (select the gene name)
Genetic variants : HAPMAP10654
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]  
Mutations and Diseases : HGMDPMVK
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PMVK
DgiDB (Drug Gene Interaction Database)PMVK
DoCM (Curated mutations)PMVK (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PMVK (select a term)
intoGenPMVK
Cancer3DPMVK(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM175800    607622   
Orphanet8653   
MedgenPMVK
Genetic Testing Registry PMVK
NextProtQ15126 [Medical]
TSGene10654
GENETestsPMVK
Target ValidationPMVK
Huge Navigator PMVK [HugePedia]
snp3D : Map Gene to Disease10654
BioCentury BCIQPMVK
ClinGenPMVK
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10654
Chemical/Pharm GKB GenePA33465
Clinical trialPMVK
Miscellaneous
canSAR (ICR)PMVK (select the gene name)
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePMVK
EVEXPMVK
GoPubMedPMVK
iHOPPMVK
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 14:03:44 CEST 2017

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