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MVD mevalonate diphosphate decarboxylase [ Homo sapiens (human) ]

Gene ID: 4597, updated on 5-Mar-2024

Summary

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Official Symbol
MVDprovided by HGNC
Official Full Name
mevalonate diphosphate decarboxylaseprovided by HGNC
Primary source
HGNC:HGNC:7529
See related
Ensembl:ENSG00000167508 MIM:603236; AllianceGenome:HGNC:7529
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MPD; MDDase; POROK7; FP17780
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 12.6), duodenum (RPKM 12.3) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
16q24.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (88651940..88663091, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (94719870..94731025, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (88718348..88729499, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88707025-88707852 Neighboring gene interleukin 17C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11359 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88715799-88716694 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88716695-88717588 Neighboring gene cytochrome b-245 alpha chain Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88717589-88718483 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7865 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11361 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7866 Neighboring gene SNAI3 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88743941-88744698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88744699-88745454 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88747432-88748253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11365 Neighboring gene snail family transcriptional repressor 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7867 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7868 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:88756108-88756282 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7869 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11368 Neighboring gene ring finger protein 166 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:88772291-88772928

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Recurrent MVD mutation in European patients with disseminated porokeratosis. Saleva-Stateva M, et al. Br J Dermatol, 2021 Feb. PMID 32767669
  2. Human mevalonate diphosphate decarboxylase: characterization, investigation of the mevalonate diphosphate binding site, and crystal structure. Voynova NE, et al. Arch Biochem Biophys, 2008 Dec 1. PMID 18823933, Free PMC Article
  3. Regulation of fatty acid biosynthesis by intermediates of the cholesterol biosynthetic pathway. Ku EC. Biochem Biophys Res Commun, 1996 Aug 5. PMID 8769113
  4. Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes. Kubo A, et al. J Invest Dermatol, 2019 Dec. PMID 31207227
  5. Human mevalonate pyrophosphate decarboxylase is localized in the cytosol. Hogenboom S, et al. Mol Genet Metab, 2004 Mar. PMID 14972328

See all (38) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment.
    Title: ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment.
  2. Recurrent MVD mutation in European patients with disseminated porokeratosis.
    Title: Recurrent MVD mutation in European patients with disseminated porokeratosis.
  3. Patients with disseminated superficial actinic porokeratosis (DSAP) and linear porokeratosis (LP) exhibit monoallelic germline mutations in genes encoding mevalonate pathway enzymes, such as MVD or MVK
    Title: Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes.
  4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  5. functional importance of R161 and N17 in the binding and orientation of mevalonate diphosphate
    Title: Human mevalonate diphosphate decarboxylase: characterization, investigation of the mevalonate diphosphate binding site, and crystal structure.
  6. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Porokeratosis 7, multiple types
MedGen: C3553549 OMIM: 614714 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables Hsp70 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables diphosphomevalonate decarboxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables diphosphomevalonate decarboxylase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in cholesterol biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in cholesterol biosynthetic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in isopentenyl diphosphate biosynthetic process, mevalonate pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in isoprenoid biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
NOT located_in peroxisome IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
diphosphomevalonate decarboxylase
Names
mevalonate (diphospho) decarboxylase
mevalonate pyrophosphate decarboxylase
NP_002452.1
XP_011521388.1
XP_011521389.1
XP_011521390.1
XP_011521391.1
XP_054236363.1
XP_054236364.1
XP_054236365.1
XP_054236366.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_052674.1 RefSeqGene

    Range
    5063..16214
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002461.3 → NP_002452.1  diphosphomevalonate decarboxylase

    See identical proteins and their annotated locations for NP_002452.1

    Status: REVIEWED

    Source sequence(s)
    AC116552, BC000011, HY026498, U49260
    Consensus CDS
    CCDS10968.1
    UniProtKB/Swiss-Prot
    P53602, Q53Y65
    Related
    ENSP00000301012.3, ENST00000301012.8
    Conserved Domains (1) summary
    cl28577
    Location:10 → 337
    MVD1; Mevalonate pyrophosphate decarboxylase [Lipid transport and metabolism]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    88651940..88663091 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523086.3 → XP_011521388.1  diphosphomevalonate decarboxylase isoform X1

    Conserved Domains (1) summary
    PLN02407
    Location:10 → 371
    PLN02407; diphosphomevalonate decarboxylase

  2. XM_011523088.3 → XP_011521390.1  diphosphomevalonate decarboxylase isoform X3

    Conserved Domains (1) summary
    PLN02407
    Location:4 → 316
    PLN02407; diphosphomevalonate decarboxylase

  3. XM_011523087.3 → XP_011521389.1  diphosphomevalonate decarboxylase isoform X2

    Conserved Domains (1) summary
    PLN02407
    Location:4 → 350
    PLN02407; diphosphomevalonate decarboxylase

  4. XM_011523089.3 → XP_011521391.1  diphosphomevalonate decarboxylase isoform X4

    Conserved Domains (1) summary
    cl28577
    Location:19 → 220
    MVD1; Mevalonate pyrophosphate decarboxylase [Lipid transport and metabolism]

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    94719870..94731025 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054380388.1 → XP_054236363.1  diphosphomevalonate decarboxylase isoform X1

  2. XM_054380390.1 → XP_054236365.1  diphosphomevalonate decarboxylase isoform X3

  3. XM_054380389.1 → XP_054236364.1  diphosphomevalonate decarboxylase isoform X2

  4. XM_054380391.1 → XP_054236366.1  diphosphomevalonate decarboxylase isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P53602.1 GenPept UniProtKB/Swiss-Prot:P53602

Gene LinkOut

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