Human Gene MVD (uc002flg.1) Description and Page Index
  Description: Homo sapiens mevalonate (diphospho) decarboxylase (MVD), mRNA.
RefSeq Summary (NM_002461): The enzyme mevalonate pyrophosphate decarboxylase catalyzes the conversion of mevalonate pyrophosphate into isopentenyl pyrophosphate in one of the early steps in cholesterol biosynthesis. It decarboxylates and dehydrates its substrate while hydrolyzing ATP. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC000011.2, SRR3476690.246991.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000301012.8/ ENSP00000301012.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr16:88,718,348-88,729,495 Size: 11,148 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 CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr16:88,718,348-88,729,495)mRNA (may differ from genome)Protein (400 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Diphosphomevalonate decarboxylase; EC=; 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.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MVD
CDC HuGE Published Literature: MVD

-  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           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  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
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -299.79585-0.512 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

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

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

- X-ray MuPIT

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

-  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
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00900 - Terpenoid backbone biosynthesis
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY-922 - mevalonate pathway I
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: MPD, MVD1_HUMAN, NM_002461, NP_002452, P53602, Q53Y65
UCSC ID: uc002flg.1
RefSeq Accession: NM_002461
Protein: P53602 (aka MVD1_HUMAN)
CCDS: CCDS10968.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_002461.1
exon count: 10CDS single in 3' UTR: no RNA size: 1812
ORF size: 1203CDS single in intron: no Alignment % ID: 99.89
txCdsPredict score: 2606.00frame shift in genome: no % Coverage: 99.06
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.