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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
    mouse all
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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
    		Compare labs

    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

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