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MVD mevalonate diphosphate decarboxylase [ Homo sapiens (human) ]

Gene ID: 4597, updated on 10-Dec-2024

Summary

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

See MVD in Genome Data Viewer
Location:
16q24.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (88651940..88663091, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (94719870..94731025, complement)
RS_2024_09 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

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in cytosol  
located_in cytosol PubMed 
located_in cytosol  
NOT located_in peroxisome PubMed 

General protein information

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_002461.3NP_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:10337
    MVD1; Mevalonate pyrophosphate decarboxylase [Lipid transport and metabolism]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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_011523086.3XP_011521388.1  diphosphomevalonate decarboxylase isoform X1

    Conserved Domains (1) summary
    PLN02407
    Location:10371
    PLN02407; diphosphomevalonate decarboxylase
  2. XM_011523088.3XP_011521390.1  diphosphomevalonate decarboxylase isoform X3

    Conserved Domains (1) summary
    PLN02407
    Location:4316
    PLN02407; diphosphomevalonate decarboxylase
  3. XM_011523087.3XP_011521389.1  diphosphomevalonate decarboxylase isoform X2

    Conserved Domains (1) summary
    PLN02407
    Location:4350
    PLN02407; diphosphomevalonate decarboxylase
  4. XM_011523089.3XP_011521391.1  diphosphomevalonate decarboxylase isoform X4

    Conserved Domains (1) summary
    cl28577
    Location:19220
    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_054380388.1XP_054236363.1  diphosphomevalonate decarboxylase isoform X1

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

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

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

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