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MVK mevalonate kinase [ Homo sapiens (human) ]

Gene ID: 4598, updated on 24-Nov-2020

Summary

Official Symbol
MVKprovided by HGNC
Official Full Name
mevalonate kinaseprovided by HGNC
Primary source
HGNC:HGNC:7530
See related
Ensembl:ENSG00000110921 MIM:251170
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
MK; LRBP; MVLK; POROK3
Summary
This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Expression
Ubiquitous expression in testis (RPKM 9.3), liver (RPKM 7.8) and 25 other tissues See more
Orthologs

Genomic context

See MVK in Genome Data Viewer
Location:
12q24.11
Exon count:
13
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (109573461..109598125)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (110011500..110035071)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ubiquitin protein ligase E3B Neighboring gene RNA, U4 small nuclear 32, pseudogene Neighboring gene metabolism of cobalamin associated B Neighboring gene RN7SK pseudogene 250 Neighboring gene family with sequence similarity 222 member A Neighboring gene FAM222A antisense RNA 1 Neighboring gene HNF1 motif-containing MPRA enhancer 206

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
Common variants at 30 loci contribute to polygenic dyslipidemia.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
GeneReviews: Not available
Hyperimmunoglobulin D with periodic fever
MedGen: C0398691 OMIM: 260920 GeneReviews: Not available
Compare labs
Mevalonic aciduria
MedGen: C1959626 OMIM: 610377 GeneReviews: Not available
Compare labs
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
GeneReviews: Not available
Porokeratosis 3, disseminated superficial actinic type
MedGen: C1867981 OMIM: 175900 GeneReviews: Not available
Compare labs

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif upregulates the expression of mevalonate kinase (MVK) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ96772

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding ISS
Inferred from Sequence or Structural Similarity
more info
 
identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
magnesium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
mevalonate kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mevalonate kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
mevalonate kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cholesterol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol biosynthetic process TAS
Traceable Author Statement
more info
 
isopentenyl diphosphate biosynthetic process, mevalonate pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
isopentenyl diphosphate biosynthetic process, mevalonate pathway IEA
Inferred from Electronic Annotation
more info
 
isoprenoid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of inflammatory response IMP
Inferred from Mutant Phenotype
more info
PubMed 
phosphorylation IEA
Inferred from Electronic Annotation
more info
 
regulation of cholesterol biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
NOT peroxisome IDA
Inferred from Direct Assay
more info
PubMed 
peroxisome ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
mevalonate kinase
Names
LH receptor mRNA-binding protein
mevalonate kinase 1
NP_000422.1
NP_001107657.1
NP_001288111.1
XP_016874802.1
XP_016874803.1
XP_024304750.1

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.

Genomic

  1. NG_007702.1 RefSeqGene

    Range
    5001..28576
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_156

mRNA and Protein(s)

  1. NM_000431.4NP_000422.1  mevalonate kinase isoform a

    See identical proteins and their annotated locations for NP_000422.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AC007570, BC016140, DC421549, M88468, R51202
    Consensus CDS
    CCDS9132.1
    UniProtKB/Swiss-Prot
    Q03426
    UniProtKB/TrEMBL
    B2RDU6
    Related
    ENSP00000228510.3, ENST00000228510.8
    Conserved Domains (1) summary
    cl27720
    Location:10379
    GHMP_kinases_N; GHMP kinases N terminal domain
  2. NM_001114185.3NP_001107657.1  mevalonate kinase isoform a

    See identical proteins and their annotated locations for NP_001107657.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AC007570, BC016140, DC421549, R51202
    Consensus CDS
    CCDS9132.1
    UniProtKB/Swiss-Prot
    Q03426
    UniProtKB/TrEMBL
    B2RDU6
    Conserved Domains (1) summary
    cl27720
    Location:10379
    GHMP_kinases_N; GHMP kinases N terminal domain
  3. NM_001301182.2NP_001288111.1  mevalonate kinase isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (b) is shorter than isoform a.
    Source sequence(s)
    AC007570, AK295338, BC016140, DC421549, R51202
    Consensus CDS
    CCDS73522.1
    UniProtKB/Swiss-Prot
    Q03426
    UniProtKB/TrEMBL
    B7Z301, F5H8H2
    Related
    ENSP00000376487.3, ENST00000392727.7
    Conserved Domains (1) summary
    PLN02677
    Location:10327
    PLN02677; mevalonate kinase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    109573461..109598125
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448982.1XP_024304750.1  mevalonate kinase isoform X1

    Conserved Domains (1) summary
    cl27720
    Location:10302
    GHMP_kinases_N; GHMP kinases N terminal domain
  2. XM_017019313.2XP_016874802.1  mevalonate kinase isoform X2

    UniProtKB/TrEMBL
    F5H8H2
    Conserved Domains (1) summary
    PLN02677
    Location:10327
    PLN02677; mevalonate kinase
  3. XM_017019314.1XP_016874803.1  mevalonate kinase isoform X3

    UniProtKB/Swiss-Prot
    Q03426
    UniProtKB/TrEMBL
    B2RDU6
    Related
    ENSP00000490869.1, ENST00000636996.1
    Conserved Domains (1) summary
    cl27720
    Location:10379
    GHMP_kinases_N; GHMP kinases N terminal domain
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