Human Gene MVD (ENST00000301012.8_7) from GENCODE V47lift37
  Description: mevalonate diphosphate decarboxylase (from RefSeq NM_002461.3)
Gencode Transcript: ENST00000301012.8_7
Gencode Gene: ENSG00000167508.12_10
Transcript (Including UTRs)
   Position: hg19 chr16:88,718,348-88,729,499 Size: 11,152 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr16:88,718,933-88,729,488 Size: 10,556 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:88,718,348-88,729,499)mRNA (may differ from genome)Protein (400 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MVD1_HUMAN
DESCRIPTION: RecName: Full=Diphosphomevalonate decarboxylase; EC=4.1.1.33; AltName: Full=Mevalonate (diphospho)decarboxylase; Short=MDDase; AltName: Full=Mevalonate pyrophosphate decarboxylase;
FUNCTION: Performs the first committed step in the biosynthesis of isoprenes.
CATALYTIC ACTIVITY: ATP + (R)-5-diphosphomevalonate = ADP + phosphate + isopentenyl diphosphate + CO(2).
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=7.4 uM for (R)-5-diphosphomevalonate; KM=0.32 mM for ATP;
PATHWAY: Steroid biosynthesis; cholesterol biosynthesis.
SUBUNIT: Homodimer.
TISSUE SPECIFICITY: Expressed in heart, skeletal muscle, lung, liver, brain, pancreas, kidney and placenta.
SIMILARITY: Belongs to the diphosphomevalonate decarboxylase family.

-  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: MVD
Diseases sorted by gene-association score: porokeratosis 7, multiple types* (1230), porokeratosis* (794), linear porokeratosis (13), punctate porokeratosis (11), waterhouse-friderichsen syndrome (9), urethral stricture (7), indolent systemic mastocytosis (6), 3-methylglutaconic aciduria (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 27.77 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 668.81 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
3' UTR -294.70585-0.504 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
IPR006204 - GHMP_kinase_N_dom
IPR005935 - Mev_diP_decarb
IPR020568 - Ribosomal_S5_D2-typ_fold
IPR014721 - Ribosomal_S5_D2-typ_fold_subgr

Pfam Domains:
PF00288 - GHMP kinases N terminal domain
PF18376 - Mevalonate 5-diphosphate decarboxylase C-terminal domain

SCOP Domains:
54211 - Ribosomal protein S5 domain 2-like
55060 - GHMP Kinase, C-terminal domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3D4J - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P53602
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 orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004163 diphosphomevalonate decarboxylase activity
GO:0005524 ATP binding
GO:0016829 lyase activity
GO:0016831 carboxy-lyase activity
GO:0030544 Hsp70 protein binding
GO:0042803 protein homodimerization activity

Biological Process:
GO:0006489 dolichyl diphosphate biosynthetic process
GO:0006629 lipid metabolic process
GO:0006694 steroid biosynthetic process
GO:0006695 cholesterol biosynthetic process
GO:0008202 steroid metabolic process
GO:0008203 cholesterol metabolic process
GO:0008284 positive regulation of cell proliferation
GO:0008299 isoprenoid biosynthetic process
GO:0016126 sterol biosynthetic process
GO:0019287 isopentenyl diphosphate biosynthetic process, mevalonate pathway
GO:0045540 regulation of cholesterol biosynthetic process

Cellular Component:
GO:0005829 cytosol
GO:0005777 peroxisome


-  Descriptions from all associated GenBank mRNAs
  AY203927 - Homo sapiens FP17780 mRNA, complete cds.
U49260 - Human mevalonate pyrophosphate decarboxylase (MPD) mRNA, complete cds.
BC000011 - Homo sapiens mevalonate (diphospho) decarboxylase, mRNA (cDNA clone MGC:1701 IMAGE:3505156), complete cds.
JD210412 - Sequence 191436 from Patent EP1572962.
JD407160 - Sequence 388184 from Patent EP1572962.
JD473110 - Sequence 454134 from Patent EP1572962.
JD215810 - Sequence 196834 from Patent EP1572962.
JD408109 - Sequence 389133 from Patent EP1572962.
JD231736 - Sequence 212760 from Patent EP1572962.
JD278899 - Sequence 259923 from Patent EP1572962.
JD214037 - Sequence 195061 from Patent EP1572962.
JD355932 - Sequence 336956 from Patent EP1572962.
JD292927 - Sequence 273951 from Patent EP1572962.
JD200280 - Sequence 181304 from Patent EP1572962.
AB209229 - Homo sapiens mRNA for diphosphomevalonate decarboxylase variant protein.
JD457935 - Sequence 438959 from Patent EP1572962.
JD477343 - Sequence 458367 from Patent EP1572962.
BT006930 - Homo sapiens mevalonate (diphospho) decarboxylase mRNA, complete cds.
DQ890562 - Synthetic construct clone IMAGE:100003192; FLH163960.01X; RZPDo839B03162D mevalonate (diphospho) decarboxylase (MVD) gene, encodes complete protein.
DQ893724 - Synthetic construct Homo sapiens clone IMAGE:100008184; FLH163956.01L; RZPDo839B03161D mevalonate (diphospho) decarboxylase (MVD) gene, encodes complete protein.
AB527587 - Synthetic construct DNA, clone: pF1KB6570, Homo sapiens MVD gene for mevalonate (diphospho) decarboxylase, without stop codon, in Flexi system.

-  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

Reactome (by CSHL, EBI, and GO)

Protein P53602 (Reactome details) participates in the following event(s):

R-HSA-191414 MVD decarboxylates MVA5PP to IPPP
R-HSA-2426168 Activation of gene expression by SREBF (SREBP)
R-HSA-1655829 Regulation of cholesterol biosynthesis by SREBP (SREBF)
R-HSA-191273 Cholesterol biosynthesis
R-HSA-446199 Synthesis of Dolichyl-phosphate
R-HSA-8957322 Metabolism of steroids
R-HSA-446219 Synthesis of substrates in N-glycan biosythesis
R-HSA-556833 Metabolism of lipids
R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-1430728 Metabolism
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000301012.1, ENST00000301012.2, ENST00000301012.3, ENST00000301012.4, ENST00000301012.5, ENST00000301012.6, ENST00000301012.7, MPD , MVD1_HUMAN, NM_002461, P53602, Q53Y65, uc317mrz.1, uc317mrz.2
UCSC ID: ENST00000301012.8_7
RefSeq Accession: NM_002461.3
Protein: P53602 (aka MVD1_HUMAN)

-  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.