MVD Gene (Protein Coding)

Mevalonate Diphosphate Decarboxylase

GCID:: GC16M088651

GIFtS:: 46

Genes Participants

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] See more...

Aliases for MVD Gene

Mevalonate Diphosphate Decarboxylase ² ³ ⁵
Mevalonate Pyrophosphate Decarboxylase ² ³ ⁴
Diphosphomevalonate Decarboxylase ² ³ ⁴
MPD ² ³ ⁴
Mevalonate (Diphospho) Decarboxylase ² ³

MDDase ³ ⁴
Mevalonate (Diphospho)Decarboxylase ⁴
EC 4.1.1.33 ⁴
FP17780 ³
POROK7 ³
MVD ⁵

External Ids for MVD Gene

HGNC: 7529
NCBI Entrez Gene: 4597
Ensembl: ENSG00000167508
OMIM®: 603236
UniProtKB/Swiss-Prot: P53602

Previous GeneCards Identifiers for MVD Gene

GC16M080154
GC16M089686
GC16M088421
GC16M088462
GC16M087245
GC16M088718
GC16M074412

Search aliases for MVD gene in PubMed and other databases

Summaries for MVD Gene

Entrez Gene Summary for MVD Gene

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]

GeneCards Summary for MVD Gene

MVD (Mevalonate Diphosphate Decarboxylase) is a Protein Coding gene. Diseases associated with MVD include Porokeratosis 7, Multiple Types and Porokeratosis. Among its related pathways are Terpenoid backbone biosynthesis and Regulation of cholesterol biosynthesis by SREBP (SREBF). Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and Hsp70 protein binding.

UniProtKB/Swiss-Prot Summary for MVD Gene

Catalyzes the ATP dependent decarboxylation of (R)-5-diphosphomevalonate to form isopentenyl diphosphate (IPP). Functions in the mevalonate (MVA) pathway leading to isopentenyl diphosphate (IPP), a key precursor for the biosynthesis of isoprenoids and sterol synthesis.
- MVD1_HUMAN,P53602

Additional gene information for MVD Gene

Monarch Initiative
Alliance of Genome Resources

Search for MVD at DataMed
Search for MVD at HumanCyc

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MVD Gene

Genomics for MVD Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data

Request up-to-date GeneHancer data

Promoters and enhancers for MVD Gene

GeneHancer (GH) Identifier	GH Type	GH Score	GH Sources	Gene Association Score	Total Score	TSS distance (kb)	Number of Genes Away	Size (kb)	Transcription Factor Binding Sites
GH16J088661	Promoter/Enhancer	2	EPDnew Ensembl ENCODE CraniofacialAtlas	255.6	+0.2	160	3.6	SP1 MYC ZNF580 ZMYM3 KLF9 POLR2A ZNF10 ZSCAN16 BRCA1 ZIC2	SNAI3-AS1 MVD HSALNG0113527 lnc-CYBA-2 ANKRD11 ZNF778 ENSG00000259877 CTU2 ZC3H18 LINC00304
GH16J088685	Promoter/Enhancer	1.7	EPDnew Ensembl ENCODE	12.4	-23.6	-23617	4	SP1 MYC NCOR1 IKZF1 JUND ZNF592 POLR2A ZNF10 NFIC ZIC2	SNAI3 piR-47857 ACSF3 SNAI3-AS1 RPL13 SNORD68 RNF166 MVD CYBA ENSG00000268218
GH16J088615	Enhancer	1.3	FANTOM5 ENCODE dbSUPER	12.2	+44.7	44669	5.5	ZNF600 ATF2 CHD4 YY1 MXD4 KLF11 FEZF1 KMT2B THAP11 FOXA2	CYBA IL17C ZC3H18 SNAI3 MVD RNF166 ZFPM1 HSALNG0113519 HSALNG0113518
GH16J088648	Promoter/Enhancer	2	EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER	5	+12.1	12089	5.7	BCLAF1 SP1 ZNF207 ZNF600 NCOR1 IKZF1 MYC SSRP1 ZNF592 KLF9	CYBA lnc-MVD-1 ANKRD11 ENSG00000268218 BANP ENSG00000261118 ZC3H18 SNAI3-AS1 ACSF3 RPL13
GH16J088691	Enhancer	0.5	ENCODE	12.5	-29.3	-29259	2	EBF1 SMARCA5 MYC MAX ZBTB33 IKZF1 ZNF687 TCF12	RNF166 MVD CYBA PIEZO1 ENSG00000259813 SNAI3 piR-47857

- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MVD on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MVD

Top Transcription factor binding sites by QIAGEN in the MVD gene promoter:

AhR
AP-1
Arnt
p53
Pax-5
PPAR-alpha
Sp1

Genomic Locations for MVD Gene

Latest Assembly

chr16:88,651,935-88,663,161: (GRCh38/hg38)

Size:: 11,227 bases
Orientation:: Minus strand

Previous Assembly

chr16:88,718,348-88,729,499: (GRCh37/hg19 by Entrez Gene)

Size:: 11,152 bases
Orientation:: Minus strand

chr16:88,718,343-88,729,569: (GRCh37/hg19 by Ensembl)

Size:: 11,227 bases
Orientation:: Minus strand

Genomic View for MVD Gene

Genes around MVD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:

16q24.2 by HGNC
16q24.2 by Entrez Gene
16q24.2 by Ensembl

MVD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)

Genomic Location for MVD Gene — Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MVD Gene

NC_000016.10

Proteins for MVD Gene

Protein details for MVD Gene (UniProtKB/Swiss-Prot)
Protein Symbol:

P53602-MVD1_HUMAN

Recommended name:

Diphosphomevalonate decarboxylase

Protein Accession:

P53602

Secondary Accessions:
- Q53Y65
Protein attributes for MVD Gene
Size:

400 amino acids

Molecular mass:

43405 Da
Quaternary structure:
Homodimer.
Three dimensional structures from OCA and Proteopedia for MVD Gene
- 3D4J (3D)

neXtProt entry for MVD Gene

Protein Expression for MVD Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MVD Gene

Ubiquitination at Lys22, Lys58, and Lys179
- NX_P53602 (NX_P53602-1)
Modification sites at PhosphoSitePlus
- P53602

Other Protein References for MVD Gene

ENSEMBL proteins:

REFSEQ proteins:

Antibodies for research

GeneTex Anti-MVD antibody [N1C1] and Anti-MVD antibody

OriGene Antibodies for MVD
- AP17571PU-N
- TA307889
- TA308143
- TA343105
- TA351419
Custom Antibody Services

Novus Biologicals Antibodies for MVD

Abcam antibodies for MVD
- MVD

Invitrogen Antibodies for MVD (AFLGC-Mvd)

antibodies-online: Show 12 available MVD Antibodies ranked by validation data
Compare Top MVD Antibodies
Quality Products:

Biorbyt antibodies for MVD

Boster Bio Antibodies for MVD
- A01631-1

ProSci Antibodies for MVD
- mevalonate diphosphate decarboxylase
Custom Antibody Services

Santa Cruz Biotechnology (SCBT) Antibodies for MVD
- MVD (2B5)
- MVD (H-11)

Sino Biological Antibodies for MVD

Protein products for research

OriGene Purified Proteins for MVD
- NM_002461
- NM_002461
- NM_002461
- NM_002461
- NM_002461
- NM_002461
- NM_138656
Search Origene for MassSpec and Protein Over-expression Lysates for MVD
Origene Custom Protein Services for MVD

Novus Biologicals proteins and lysates for MVD

ProSpec Recombinant Proteins for MVD

antibodies-online: Show 8 available MVD Proteins ranked by validation data
Compare Top MVD Proteins
Quality Products:

Search for MVD Proteins at ProSci

Abcam proteins for MVD
- MVD

Assay products for research

antibodies-online: Show 7 available MVD Elisa Kits ranked by validation data
Compare Top MVD Elisa Kits
Quality Products:

Browse Boster Bio ELISA Kits

Browse Sino Biological Assays

No data available for DME Specific Peptides for MVD Gene

Domains & Families for MVD Gene

Gene Families for MVD Gene

IUPHAR :

Lanosterol biosynthesis pathway

Human Protein Atlas (HPA):

Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins

Protein Domains for MVD Gene

InterPro:

Suggested Antigen Peptide Sequences for MVD Gene

GenScript: Design optimal peptide antigens:

Mevalonate pyrophosphate decarboxylase (MVD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P53602

UniProtKB/Swiss-Prot:

MVD1_HUMAN :

Belongs to the diphosphomevalonate decarboxylase family.

Family:

Belongs to the diphosphomevalonate decarboxylase family.

Function for MVD Gene

Molecular function for MVD Gene

UniProtKB/Swiss-Prot Function:

Catalyzes the ATP dependent decarboxylation of (R)-5-diphosphomevalonate to form isopentenyl diphosphate (IPP). Functions in the mevalonate (MVA) pathway leading to isopentenyl diphosphate (IPP), a key precursor for the biosynthesis of isoprenoids and sterol synthesis.

MVD1_HUMAN,P53602

UniProtKB/Swiss-Prot CatalyticActivity:

Reaction=(R)-5-diphosphomevalonate + ATP = ADP + CO2 + isopentenyl diphosphate + phosphate; Xref=Rhea:RHEA:23732, ChEBI:CHEBI:16526, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57557, ChEBI:CHEBI:128769, ChEBI:CHEBI:456216; EC=4.1.1.33; Evidence={ECO:0000269|PubMed:18823933, ECO:0000269|PubMed:8626466, ECO:0000269|PubMed:9392419};.

MVD1_HUMAN,P53602

UniProtKB/Swiss-Prot BiophysicochemicalProperties:

Kinetic parameters: KM=7.4 uM for (R)-5-diphosphomevalonate {ECO:0000269|PubMed:9392419}; KM=28.9 uM for (S,R)-5-diphosphomevalonate {ECO:0000269|PubMed:18823933}; KM=0.69 mM for ATP {ECO:0000269|PubMed:18823933}; KM=0.32 mM for ATP {ECO:0000269|PubMed:9392419};

MVD1_HUMAN,P53602

Enzyme Numbers (IUBMB) for MVD Gene

EC 4.1.1.33 ⁴

Phenotypes From GWAS Catalog for MVD Gene

Gene Ontology (GO) - Molecular Function for MVD Gene

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0004163	diphosphomevalonate decarboxylase activity	IBA,IDA	11792727
GO:0005524	ATP binding	IEA	--
GO:0016829	lyase activity	IEA	--
GO:0016831	carboxy-lyase activity	IEA	--

Phenotypes for MVD Gene

MGI mutant phenotypes for MVD:

inferred from 1 alleles

GenomeRNAi human phenotypes for MVD:

Human Phenotype Ontology for MVD Gene

HPO Id	HPO Name	Alternative Ids	Definition	Synonyms

Animal Models for research

Taconic Biosciences Mouse Models for MVD
- Mvd

CRISPR products for research

Applied Biological Materials (abm): CRISPR Clones for MVD - Starting at $85 >
* MVD CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
* Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.

OriGene CRISPR knockouts for MVD
- GA103043
- GA212687
- KN400451
- KN510554

Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MVD

Santa Cruz Biotechnology (SCBT) CRISPR for MVD

miRNA for MVD Gene

miRTarBase miRNAs that target MVD

miRNA products for research

Search GeneCopoeia for miRNA 3'UTR Target clone products for MVD

Browse OriGene miRNA Products For MVD

Inhibitory RNAs for research

Origene shrna, sirna, and RNAi products in human, mouse, rat for MVD
Browse OriGene Inhibitory RNA Products For MVD

Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MVD

Search Santa Cruz Biotechnology (SCBT) for MVD siRNA/shRNA

Clone products for research

Applied Biological Materials (abm): Clones for MVD - Starting at $45 >
* MVD as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
* Viral Packaging Services and High Titer Production Services also available.

OriGene clones in human,mouse,rat for MVD
- SC207962
- MC203671
- RN210856
- SC118602
OriGene ORF clones in human,mouse,rat for MVD
- MG206298
- MR206298
- MR206298L3
- MR206298L4
- RC200451
- RC200451L3
- RC200451L4
- RG200451
- RR210856
- RR210856L3
- RR210856L4
- MR206298L3V
- MR206298L4V
- RC200451L3V
- RC200451L4V
- RR210856L3V
- RR210856L4V
Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling

Sino Biological Human cDNA Clone for MVD

Addgene plasmids for MVD

Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MVD

Cell Lines for research

Browse ESI BIO Cell Lines and PureStem Progenitors for MVD

Browse GeneCopoeia Cell Lines

VectorBuilder Stable cell line generation for MVD

Search Horizon for Cell Lines for MVD

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for MVD Gene

Localization for MVD Gene

Subcellular locations from UniProtKB/Swiss-Prot for MVD Gene

Cytoplasm.

P53602-MVD1_HUMAN

Subcellular locations from

COMPARTMENTS

Compartment	Confidence
cytosol	5
plasma membrane	2
extracellular	2
mitochondrion	2
peroxisome	2
nucleus	2
cytoskeleton	1
endoplasmic reticulum	1
endosome	1
lysosome	1
golgi apparatus	1

Subcellular locations from the

Human Protein Atlas (HPA)

Cell Junctions (2)
Cytosol (2)

See all subcellular structures

Gene Ontology (GO) - Cellular Components for MVD Gene

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--
GO:0005777	NOT peroxisome	IDA	14972328
GO:0005829	cytosol	TAS	--

Pathways & Interactions for MVD Gene

SuperPathways for MVD Gene

	SuperPathway	Contained pathways
1	Terpenoid backbone biosynthesis	Cholesterol biosynthesis .88 superpathway of cholesterol biosynthesis .88 Terpenoid backbone biosynthesis .34	Cholesterol Biosynthesis .01 mevalonate pathway .01 superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate) .01
2	Metabolism	Metabolic pathways .40 Metabolism .40	Metabolism of lipids and lipoproteins .37
3	Synthesis of substrates in N-glycan biosythesis	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein .81 Synthesis of substrates in N-glycan biosythesis .81	Synthesis of Dolichyl-phosphate .01
4	Regulation of cholesterol biosynthesis by SREBP (SREBF)	Activation of gene expression by SREBF (SREBP) .76	Regulation of cholesterol biosynthesis by SREBP (SREBF) .76
5	Metabolism of proteins	Metabolism of proteins .64	Post-translational protein modification .64

Pathways by source for MVD Gene

5 BioSystems pathways for MVD Gene

11 Reactome pathways for MVD Gene

2 KEGG pathways for MVD Gene

UniProtKB/Swiss-Prot P53602-MVD1_HUMAN

Pathway: Steroid biosynthesis; cholesterol biosynthesis.

Interacting Proteins for MVD Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)

Selected Interacting proteins: ENSP00000301012 P53602-MVD1_HUMAN for MVD Gene via STRING IID

Symbol	External ID(s)	Details
AARSD1	ENSP00000400870 ²⁰ Q9BTE6 ¹²⁴	STRING: ENSP00000400870 IID: # exp=1 # pred=1
ASS1	ENSP00000361471 ²⁰ P00966 ¹²⁴	STRING: ENSP00000361471 IID: # exp=1
ATP6V0D1	ENSP00000290949 ²⁰ P61421 ¹²⁴	STRING: ENSP00000290949 IID: # exp=1
BTAF1	ENSP00000265990 ²⁰ O14981 ¹²⁴	STRING: ENSP00000265990 IID: # exp=1
CAPN1	ENSP00000431984 ²⁰ P07384 ¹²⁴	STRING: ENSP00000431984 IID: # exp=1

GPS-Prot Interaction Network for MVD

Gene Ontology (GO) - Biological Process for MVD Gene

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006489	dolichyl diphosphate biosynthetic process	TAS	--
GO:0006629	lipid metabolic process	IEA	--
GO:0006694	steroid biosynthetic process	IEA	--
GO:0006695	cholesterol biosynthetic process	TAS	--
GO:0008202	steroid metabolic process	IEA	--

No data available for SIGNOR curated interactions for MVD Gene

Drugs & Compounds for MVD Gene

(23) Drugs for MVD Gene - From: ClinicalTrials, DGIdb, IUPHAR, HMDB, and Novoseek

Name	Status	Disease Links	Group	Clinical Trials
Scopolamine	Approved, Investigational	MalaCards Medline Plus	Pharma	116
Carbon dioxide	Approved, Investigational, Vet_approved	MalaCards Medline Plus	Pharma	0
Isopentenyl pyrophosphate	Experimental	MalaCards Medline Plus	Pharma	0
Phosphate	Experimental	MalaCards Medline Plus	Pharma	0
ATP	Investigational	MalaCards Medline Plus	Nutra	0

(8) Additional Compounds for MVD Gene - From: HMDB and Novoseek

Name	Synonyms	CAS Number	PubChem IDs	PubMed IDs
(R)-5-Diphosphomevalonic acid	(R)-5-Diphosphomevalonate 5-Diphosphomevalonate 5-Diphosphomevalonic acid Mevalonate 5-diphosphate Mevalonate pyrophosphate	MalaCards Medline Plus	4872-34-8	439418
(R)-Mevalonic acid-5-pyrophosphate	(R)-Mevalonate-5-pyrophosphate (R)-Mevalonic acid-5-pyrophosphoric acid (R)-5-Diphosphomevalonic acid 1,1,3,7-Tetrahydroxy-7-methyl-2,4-dioxa-1,3-diphosphanonan-9-Oate 1,1,3,7-Tetrahydroxy-7-methyl-2,4-dioxa-1,3-diphosphanonan-9-Oic acid	MalaCards Medline Plus	1492-08-6	22833574
ADP	5'-Adenylphosphoric acid Adenosine 5'-diphosphate ADENOSINE-5'-diphosphATE H3ADP 5'-Adenylphosphate	MalaCards Medline Plus	58-64-0	6022

Drug products for research

Browse Tocris compounds for MVD

Browse compounds at ApexBio

Transcripts for MVD Gene

mRNA/cDNA for MVD Gene

1 REFSEQ mRNAs :

NM_002461.3

7 NCBI additional mRNA sequence :

17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

ENST00000301012 1799 nts (view in UCSC)
ENST00000561895 499 nts (view in UCSC)
ENST00000562651 908 nts (view in UCSC)
ENST00000562741 217 nts (view in UCSC)
ENST00000562981 537 nts (view in UCSC)

CRISPR products for research

Applied Biological Materials (abm): CRISPR Clones for MVD - Starting at $85 >
* MVD CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
* Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.

OriGene CRISPR knockouts for MVD
- GA103043
- GA212687
- KN400451
- KN510554

Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MVD

Santa Cruz Biotechnology (SCBT) CRISPR for MVD

miRNA products for research

Search GeneCopoeia for miRNA 3'UTR Target clone products for MVD

Browse OriGene miRNA Products For MVD

Inhibitory RNAs for research

Origene shrna, sirna, and RNAi products in human, mouse, rat for MVD
Browse OriGene Inhibitory RNA Products For MVD

Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MVD

Search Santa Cruz Biotechnology (SCBT) for MVD siRNA/shRNA

Clone products for research

Applied Biological Materials (abm): Clones for MVD - Starting at $45 >
* MVD as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
* Viral Packaging Services and High Titer Production Services also available.

OriGene clones in human,mouse,rat for MVD
- SC207962
- MC203671
- RN210856
- SC118602
OriGene ORF clones in human,mouse,rat for MVD
- MG206298
- MR206298
- MR206298L3
- MR206298L4
- RC200451
- RC200451L3
- RC200451L4
- RG200451
- RR210856
- RR210856L3
- RR210856L4
- MR206298L3V
- MR206298L4V
- RC200451L3V
- RC200451L4V
- RR210856L3V
- RR210856L4V
Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling

Sino Biological Human cDNA Clone for MVD

Addgene plasmids for MVD

Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MVD

Alternative Splicing Database (ASD) splice patterns (SP) for MVD Gene

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	·	1f	^	2a	·	2b	^	3a	·	3b	^	4	^	5	^	6a	·	6b	^	7	^	8a	·	8b	^	9a	·	9b	·	9c	^	10	^	11	^	12a	·	12b	·	12c	^	13a	·
SP1:													-		-		-		-		-		-		-								-		-						-		-		-
SP2:													-		-		-						-		-								-		-						-		-		-
SP3:													-		-		-		-		-		-		-								-		-								-		-
SP4:													-				-		-		-		-		-								-		-						-		-		-
SP5:													-		-		-						-		-								-		-						-		-		-
SP6:																																	-		-						-		-		-
SP7:													-		-		-		-				-		-								-		-						-		-		-
SP8:													-		-		-		-		-		-		-										-						-		-		-
SP9:																																	-		-								-		-
SP10:
SP11:													-		-		-		-		-		-		-						-		-		-		-				-		-		-
SP12:													-		-		-		-		-		-		-								-		-						-		-		-
SP13:																	-		-		-		-		-								-		-						-		-		-
SP14:													-		-		-		-		-		-		-																-		-		-
SP15:																							-		-
SP16:																																	-		-						-		-
SP17:																																									-		-		-
SP18:													-		-		-		-
SP19:																																									-		-		-
SP20:																																									-

ExUns:	13b	·	13c	^	14a	·	14b	^	15a	·	15b	·	15c	^	16	^	17a	·	17b	^	18
SP1:			-
SP2:			-
SP3:			-
SP4:			-
SP5:
SP6:
SP7:
SP8:			-
SP9:			-
SP10:			-																-
SP11:			-
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:			-
SP18:
SP19:
SP20:

Relevant External Links for MVD Gene

GeneLoc Exon Structure for: MVD

Expression for MVD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MVD Gene

mRNA expression in normal human tissues for MVD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Lymph (Hematopoietic System)

Protein differential expression in normal tissues from HIPED for MVD Gene

This gene is overexpressed in Fetal testis (32.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MVD Gene

Integrated Proteomics: protein expression from ProteomicsDB, MaxQB, and MOPED for MVD Gene

Integrated proteomics: cell line protein expression from ProteomicsDB, MOPED and MaxQB for MVD Gene

Protein tissue co-expression partners for MVD Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MVD

SOURCE GeneReport for Unigene cluster for MVD Gene:

Hs.252457

mRNA Expression by UniProt/SwissProt for MVD Gene:

P53602-MVD1_HUMAN

Tissue specificity: Expressed in heart, skeletal muscle, lung, liver, brain, pancreas, kidney and placenta.

Evidence on tissue expression from TISSUES for MVD Gene

Liver(4.5)
Nervous system(3.9)
Skin(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MVD Gene

Germ Layers:

ectoderm

Systems:

integumentary

Regions:

Limb:

nail

General:

hair
skin
sweat gland

Primer products for research

OriGene qPCR primer pairs for MVD
- HP206141
- MP208133
OriGene qPCR primer pairs and template standards for MVD
- HK204958
- MK203061

Gene Expression Assays for research

Applied Biosystems by Thermo Fisher Scientific TaqMan® Assays for MVD

No data available for mRNA differential expression in normal tissues for MVD Gene

Orthologs for MVD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MVD Gene

Organism	Taxonomy	Gene	Similarity	Type	Details
Chimpanzee (Pan troglodytes)	Mammalia	MVD ²⁹ ³⁰	99.33 (n)	OneToOne	468069 XM_523460.4 XP_523460.3 16:88373028-88383494
Dog (Canis familiaris)	Mammalia	MVD ²⁹ ³⁰	85.25 (n)	OneToOne	489663 XM_546783.4 XP_546783.2 5:64682715-64691632
Cow (Bos Taurus)	Mammalia	MVD ²⁹ ³⁰	84.33 (n)	OneToOne	509958 NM_001075424.1 NP_001068892.1 18:13938827-13945489
Rat (Rattus norvegicus)	Mammalia	Mvd ²⁹	83.38 (n)		81726 NM_031062.2 NP_112324.1
Mouse (Mus musculus)	Mammalia	Mvd ²⁹ ¹⁶ ³⁰	82.7 (n)	OneToOne	192156 NM_138656.2 NP_619597.2 122433601 8:122433596-122443422
Platypus (Ornithorhynchus anatinus)	Mammalia	MVD ³⁰	77 (a)	OneToOne	Ultra78:3337694-3348951
Oppossum (Monodelphis domestica)	Mammalia	MVD ³⁰	77 (a)	OneToOne	1:695607849-695623070
Chicken (Gallus gallus)	Aves	MVD ²⁹ ³⁰	73.35 (n)	OneToOne	425359 XM_423130.4 XP_423130.3 11:17895874-17898830
Lizard (Anolis carolinensis)	Reptilia	MVD ³⁰	68 (a)	OneToOne	GL343670.1:114376-128760
Tropical Clawed Frog (Silurana tropicalis)	Amphibia	mvd ²⁹	65.22 (n)		394871 XM_004913561.1 XP_004913618.1
Tropical Clawed Frog (Silurana tropicalis)	Amphibia	LOC394871 ²⁹			BC063907.1
Zebrafish (Danio rerio)	Actinopterygii	mvda ²⁹ ³⁰	65.56 (n)	OneToOne	492781 NM_001007422.1 NP_001007423.1 11:11190352-11201629
African malaria mosquito (Anopheles gambiae)	Insecta	AgaP_AGAP001611 ²⁹	57.05 (n)		1281561 XM_321487.3 XP_321487.3
Fruit Fly (Drosophila melanogaster)	Insecta	CG8239 ²⁹ ³⁰ ³¹	54.16 (n)	OneToOne	32520 NM_132840.4 NP_573068.3 X:15643210-15645255
Worm (Caenorhabditis elegans)	Secernentea	Y48B6A.13 ³⁰	40 (a)	OneToOne	II:14220915-14226275
		Y48B6A.13b ³¹	40 (a)
		Y48B6A.13a ³¹	39 (a)
A. gosspyii yeast (Eremothecium gossypii)	Saccharomycetes	AGOS_AGL232C ²⁹	58.09 (n)		4622728 NM_211497.2 NP_986435.2
K. Lactis Yeast (Kluyveromyces lactis)	Saccharomycetes	KLLA0F10285g ²⁹	50.13 (n)		2895887 XM_455548.1 XP_455548.1
Baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	MVD1 ²⁹ ³⁰ ³²	49.09 (n)	OneToOne	855779 NP_014441.1 XIV:701895-703085
Thale Cress (Arabidopsis thaliana)	eudicotyledons	AT3G54250 ²⁹	52.79 (n)		824592 NM_115285.2 NP_566995.1
Soybean (Glycine max)	eudicotyledons	Gma.7599 ²⁹			46738047
Rice (Oryza sativa)	Liliopsida	Os02g0109100 ²⁹	61.2 (n)		4328034 NM_001052177.2 NP_001045642.2
Rice (Oryza sativa)	Liliopsida	Os.10543 ²⁹			CB622472.1
Barley (Hordeum vulgare)	Liliopsida	Hv.5909 ²⁹			AL504075.1
Corn (Zea mays)	Liliopsida	Zm.14376 ²⁹			AY104116.1
Bread mold (Neurospora crassa)	Ascomycetes	NCU11381 ²⁹	54.27 (n)		5847154 XM_001728016.1 XP_001728068.1
Fission Yeast (Schizosaccharomyces pombe)	Schizosaccharomycetes	mvd1 ²⁹	51.05 (n)		2541430 NP_594027.1

Species where no ortholog for MVD was found in the sources mined by GeneCards:

Actinobacteria (Mycobacterium tuberculosis)
African clawed frog (Xenopus laevis)
Alicante grape (Vitis vinifera)
Alpha proteobacteria (Wolbachia pipientis)
Amoeba (Dictyostelium discoideum)
Archea (Pyrococcus horikoshii)
Beta proteobacteria (Neisseria meningitidis)
Chromalveolata (Phytophthora infestans)
Common water flea (Daphnia pulex)
E. coli (Escherichia coli)
Filamentous fungi (Aspergillus nidulans)
Firmicute Bacteria (Streptococcus pneumoniae)
Green Algae (Chlamydomonas reinhardtii)
Honey Bee (Apis mellifera)
Loblloly Pine (Pinus taeda)
Malaria Parasite (Plasmodium falciparum)
Medicago Trunc (Medicago Truncatula)
Moss (Physcomitrella patens)
Orangutan (Pongo pygmaeus)
Pig (Sus scrofa)
Rainbow Trout (Oncorhynchus mykiss)
Rice Blast Fungus (Magnaporthe grisea)
Schistosome Parasite (Schistosoma mansoni)
Sea Anemone (Nematostella vectensis)
Sea Vase (Ciona intestinalis)
Sea Squirt (Ciona savignyi)
Sea Urchin (Strongylocentrotus purpuratus)
Sorghum (Sorghum bicolor)
Stem Rust Fungus (Puccinia graminis)
Sugarcane (Saccharum officinarum)
Tomato (Lycopersicon esculentum)
Toxoplasmosis (Toxoplasma gondii)
Trichoplax (Trichoplax adhaerens)
Wheat (Triticum aestivum)

Evolution for MVD Gene

ENSEMBL:: Gene Tree for MVD (if available)
TreeFam:: Gene Tree for MVD (if available)
Aminode:: Evolutionary constrained regions (ECRs) for MVD: view image
Alliance of Genome Resources:: Additional Orthologs for MVD

Paralogs for MVD Gene

No data available for Paralogs for MVD Gene

Variants for MVD Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MVD Gene

SNP ID	Clinical significance and condition	Chr 16 pos	Variation	Type
1030559	Pathogenic: Porokeratosis 7, multiple types	88,656,243(-)	GC/G NM_002461.3(MVD):c.464del (p.Gly155fs)	FRAMESHIFT
rs116232108	Benign: not provided	88,657,940(-)	C/T NM_002461.3(MVD):c.231G>A (p.Pro77=)	SYNONYMOUS
rs144010349	Porokeratosis 7, multiple types (POROK7) [MIM:614714]		p.Arg161Gln
rs148833471	Benign: not provided	88,653,318(-)	T/C NM_002461.3(MVD):c.1104A>G (p.Lys368=)	SYNONYMOUS
rs1597381715	Uncertain Significance: Porokeratosis 7, multiple types	88,658,663(-)	A/G NM_002461.3(MVD):c.128T>C (p.Leu43Pro)	MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MVD Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MVD Gene

Variant ID	Type	Subtype	PubMed ID
esv3639554	CNV	loss	21293372
nsv1065973	CNV	loss	25217958
nsv1926	CNV	insertion	18451855
nsv471113	CNV	loss	18288195
nsv482951	CNV	loss	15286789
nsv833325	CNV	loss	17160897
nsv952070	CNV	deletion	24416366

Variation tolerance for MVD Gene

Residual Variation Intolerance Score: 75.8% of all genes are more intolerant (likely to be disease-causing)

Gene Damage Index Score: 2.34; 41.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MVD Gene

Human Gene Mutation Database (HGMD): MVD
SNPedia medical, phenotypic, and genealogical associations of SNPs for: MVD
Leiden Open Variation Database (LOVD): MVD

SNP Genotyping and Copy Number Assays for research

Applied Biosystems by Thermo Fisher Scientific TaqMan® Assays for MVD

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MVD Gene

Disorders for MVD Gene

(7) MalaCards diseases for MVD Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder	Aliases	PubMed IDs
porokeratosis 7, multiple types	porok7	21161278
porokeratosis	disseminated superficial actinic porokeratosis	21161278
scirrhous adenocarcinoma	adenocarcinoma with productive fibrosis
punctate porokeratosis	porokeratosis punctata palmaris et plantaris
linear porokeratosis	congenital facial linear porokeratosis

- elite association - COSMIC cancer census association via MalaCards

Search MVD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MVD1_HUMAN

Porokeratosis 7, multiple types (POROK7) [MIM:614714]: A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported. {ECO:0000269 PubMed:18823933, ECO:0000269 PubMed:26202976}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for MVD

Human Genome Epidemiology Navigator: (HuGE)
Atlas: ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform: Open Targets Platform

Search disorders for MVD gene in PubMed and other databases

No data available for Genatlas for MVD Gene

Publications for MVD Gene

Molecular cloning and expression of the cDNAs encoding human and yeast mevalonate pyrophosphate decarboxylase. (PMID: 8626466) Toth MJ … Huwyler L (The Journal of biological chemistry 1996) ² ³ ⁴ ²²
Human mevalonate pyrophosphate decarboxylase is localized in the cytosol. (PMID: 14972328) Hogenboom S … Waterham HR (Molecular genetics and metabolism 2004) ³ ⁴ ²²
Genomic variations of the mevalonate pathway in porokeratosis. (PMID: 26202976) Zhang Z … Jiang Z (eLife 2015) ⁴ ⁷²
Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) ³ ⁴⁰
Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y … Boer JM (Journal of lipid research 2008) ³ ⁴⁰