MVD mevalonate (diphospho) decarboxylase [Homo sapiens] - Gene

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Summary

Official Symbol: MVDprovided by HGNC
Official Full Name: mevalonate (diphospho) decarboxylaseprovided by HGNC
Primary source: HGNC:7529
See related: Ensembl:ENSG00000167508; HPRD:04454; MIM:603236; Vega:OTTHUMG00000137865
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; 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]

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Genomic context

Location :: 16q24.3

Sequence :: Chromosome: 16; NC_000016.9 (88718348..88729495, complement)

See MVD in Epigenomics, MapViewer

Chromosome 16 - NC_000016.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.
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.
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

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
P53602	O14981	BTAF1	HPRD	PubMed
P53602	P26641	EEF1G	HPRD	PubMed
P53602	Q13541	EIF4EBP1	HPRD	PubMed
P53602	O14775	GNB5	HPRD	PubMed
P53602	P38646	HSPA9	HPRD	PubMed
P53602	P53602	MVD	HPRD	PubMed
BioGRID:110682	BioGRID:114506	BTAF1	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:110682	BioGRID:108257	EEF1G	BioGRID	PubMed	Two-hybrid
BioGRID:110682	BioGRID:115920	GNB5	BioGRID	PubMed	Two-hybrid
BioGRID:110682	BioGRID:109545	HSPA9	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:110682	BioGRID:110682	MVD	BioGRID	PubMed	Reconstituted Complex
BioGRID:110682	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
Hsp70 protein binding	IPI Inferred from Physical Interaction more info	PubMed
diphosphomevalonate decarboxylase activity	IDA Inferred from Direct Assay more info	PubMed
diphosphomevalonate decarboxylase activity	TAS Traceable Author Statement more info
kinase activity	IEA Inferred from Electronic Annotation more info
lyase activity	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
cholesterol biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
cholesterol biosynthetic process	TAS Traceable Author Statement more info
isopentenyl diphosphate biosynthetic process, mevalonate pathway	IEA Inferred from Electronic Annotation more info
isoprenoid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
response to drug	IEA Inferred from Electronic Annotation more info
small molecule metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cytosol	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info
peroxisomal matrix	IEA Inferred from Electronic Annotation more info
NOT peroxisome	IDA Inferred from Direct Assay more info	PubMed
soluble fraction	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: diphosphomevalonate decarboxylase

Names: diphosphomevalonate decarboxylase; MDDase; mevalonate pyrophosphate decarboxylase; mevalonate pyrophosphate decarboxylase

NP_002452.1

EC 4.1.1.33

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NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

NM_002461.1 → NP_002452.1 diphosphomevalonate decarboxylase

Status: REVIEWED

Source sequence(s)

U49260

Consensus CDS

CCDS10968.1

UniProtKB/Swiss-Prot

P53602

Related

ENSP00000301012, OTTHUMP00000175197, ENST00000301012, OTTHUMT00000269547

Conserved Domains (1) summary

PLN02407
Location:10 – 337
Blast Score: 1096

PLN02407; diphosphomevalonate decarboxylase

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000016.9 Reference GRCh37.p5 Primary Assembly

Range

88718348..88729495, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000148.1 Alternate HuRef

Range

74412379..74423531, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC116552.2 (3493..14640)	None
genomic	CH471184.2	EAW66790.1
		EAW66791.1
		EAW66792.1
mRNA	AB209229.1	BAD92466.1
mRNA	AY203927.1	AAP34450.1
mRNA	BC000011.2	AAH00011.1
mRNA	BT006930.1	AAP35576.1
mRNA	U49260.1	AAC50440.1
other-genetic	DQ890562.2	ABM92179.1
other-genetic	DQ893724.2	ABM84650.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P53602.1	GenPept	UniProtKB/Swiss-Prot:P53602
Q59G80	GenPept	UniProtKB/TrEMBL:Q59G80
Q6XYE3	GenPept	UniProtKB/TrEMBL:Q6XYE3