Human Gene PMVK (ENST00000368467.4_7) from GENCODE V47lift37
  Description: phosphomevalonate kinase, transcript variant 1 (from RefSeq NM_006556.4)
Gencode Transcript: ENST00000368467.4_7
Gencode Gene: ENSG00000163344.6_9
Transcript (Including UTRs)
   Position: hg19 chr1:154,897,216-154,909,195 Size: 11,980 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr1:154,897,605-154,909,161 Size: 11,557 Coding Exon Count: 5 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:154,897,216-154,909,195)mRNA (may differ from genome)Protein (192 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  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: PMVK
Diseases sorted by gene-association score: porokeratosis 1, multiple types* (1279), porokeratosis (26), linear porokeratosis (9), punctate porokeratosis (8), dacryoadenitis (7)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 52.32 RPKM in Pituitary
Total median expression: 1501.95 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 -10.0034-0.294 Picture PostScript Text
3' UTR -171.00389-0.440 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
IPR005919 - Pmev_kin_anim

Pfam Domains:
PF04275 - Phosphomevalonate kinase

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on Q6FGV9
FrontTopSide
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 Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004631 phosphomevalonate kinase activity
GO:0005524 ATP binding
GO:0016301 kinase activity

Biological Process:
GO:0006695 cholesterol biosynthetic process
GO:0008299 isoprenoid biosynthetic process
GO:0016310 phosphorylation
GO:0019287 isopentenyl diphosphate biosynthetic process, mevalonate pathway

Cellular Component:
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  BC006089 - Homo sapiens phosphomevalonate kinase, mRNA (cDNA clone MGC:12661 IMAGE:3604167), complete cds.
HM005718 - Homo sapiens clone HTL-T-95mP testis tissue sperm-binding protein Li 95mP mRNA, complete cds.
BC007694 - Homo sapiens phosphomevalonate kinase, mRNA (cDNA clone MGC:11362 IMAGE:3954909), complete cds.
BC000237 - Homo sapiens mRNA similar to phosphomevalonate kinase (cDNA clone IMAGE:3353230).
L77213 - Homo sapiens phosphomevalonate kinase mRNA, complete cds.
AK130234 - Homo sapiens cDNA FLJ26724 fis, clone PNC05489.
JD124060 - Sequence 105084 from Patent EP1572962.
JD166159 - Sequence 147183 from Patent EP1572962.
JD136931 - Sequence 117955 from Patent EP1572962.
JD071297 - Sequence 52321 from Patent EP1572962.
JD230209 - Sequence 211233 from Patent EP1572962.
JD038938 - Sequence 19962 from Patent EP1572962.
JD274012 - Sequence 255036 from Patent EP1572962.
JD080928 - Sequence 61952 from Patent EP1572962.
JD025369 - Sequence 6393 from Patent EP1572962.
JD023094 - Sequence 4118 from Patent EP1572962.
JD030161 - Sequence 11185 from Patent EP1572962.
BT019976 - Homo sapiens phosphomevalonate kinase mRNA, complete cds.
AK312803 - Homo sapiens cDNA, FLJ93228, Homo sapiens phosphomevalonate kinase (PMVK), mRNA.
JF432626 - Synthetic construct Homo sapiens clone IMAGE:100073863 phosphomevalonate kinase (PMVK) gene, encodes complete protein.
KJ905398 - Synthetic construct Homo sapiens clone ccsbBroadEn_14971 PMVK gene, encodes complete protein.
CR541998 - Homo sapiens full open reading frame cDNA clone RZPDo834B1135D for gene PMVK, phosphomevalonate kinase; complete cds, without stopcodon.
JD023306 - Sequence 4330 from Patent EP1572962.
JD023118 - Sequence 4142 from Patent EP1572962.
JD032782 - Sequence 13806 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-5910 - superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)
PWY-922 - mevalonate pathway
PWY66-5 - superpathway of cholesterol biosynthesis

-  Other Names for This Gene
  Alternate Gene Symbols: D3DV77, ENST00000368467.1, ENST00000368467.2, ENST00000368467.3, hCG_1739272 , NM_006556, PMVK , Q6FGV9, Q6FGV9_HUMAN, uc318gui.1, uc318gui.2
UCSC ID: ENST00000368467.4_7
RefSeq Accession: NM_006556.4
Protein: Q6FGV9

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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