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PMVK phosphomevalonate kinase [ Homo sapiens (human) ]

Gene ID: 10654, updated on 17-Jun-2024

Summary

Official Symbol
PMVKprovided by HGNC
Official Full Name
phosphomevalonate kinaseprovided by HGNC
Primary source
HGNC:HGNC:9141
See related
Ensembl:ENSG00000163344 MIM:607622; AllianceGenome:HGNC:9141
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
PMK; PMKA; PMKASE; POROK1; HUMPMKI
Summary
This gene encodes a peroxisomal enzyme that is a member of the galactokinase, homoserine kinase, mevalonate kinase, and phosphomevalonate kinase (GHMP) family of ATP-dependent enzymes. The encoded protein catalyzes the conversion of mevalonate 5-phosphate to mevalonate 5-diphosphate, which is the fifth step in the mevalonate pathway of isoprenoid biosynthesis. Mutations in this gene are linked to certain types of porokeratosis including disseminated superficial porokeratosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
Expression
Ubiquitous expression in kidney (RPKM 26.9), liver (RPKM 17.8) and 25 other tissues See more
Orthologs
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Genomic context

See PMVK in Genome Data Viewer
Location:
1q21.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (154924740..154942658, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (154064101..154082019, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (154897216..154915134, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene potassium calcium-activated channel subfamily N member 3 Neighboring gene uncharacterized LOC124904429 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154702946-154703755 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154703756-154704564 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154708005-154708564 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:154708837-154710036 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154714090-154714590 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1782 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1365 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154721874-154722377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1783 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154785391-154786050 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154786051-154786708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154812853-154813354 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1784 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1785 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1786 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:154831699-154832199 Neighboring gene Sharpr-MPRA regulatory region 4766 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154834547-154835222 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154835223-154835896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154836963-154837852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1789 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154840581-154841100 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154842508-154843464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154849802-154850387 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154850973-154851557 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154883471-154883971 Neighboring gene uncharacterized LOC105371449 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154908701-154909643 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154909644-154910585 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154914379-154915254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1795 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154917055-154917556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154924461-154924960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154931761-154932260 Neighboring gene H3K27ac hESC enhancers GRCh37_chr1:154933865-154934605 and GRCh37_chr1:154934606-154935345 Neighboring gene PBX homeobox interacting protein 1 Neighboring gene PYGO2 and SHC1 antisense RNA 1 Neighboring gene pygopus family PHD finger 2

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
Porokeratosis 1, Mibelli type
MedGen: CN297066 OMIM: 175800 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
EBI GWAS Catalog
Meta-analysis identifies six new susceptibility loci for atrial fibrillation.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: PBXIP1

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphomevalonate kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables phosphomevalonate kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphomevalonate kinase activity TAS
Traceable Author Statement
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in membrane HDA PubMed 
NOT located_in peroxisome IDA
Inferred from Direct Assay
more info
PubMed 
located_in peroxisome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
phosphomevalonate kinase
Names
testis tissue sperm-binding protein Li 95mP
NP_001309940.1
NP_001309941.1
NP_001335625.1
NP_006547.1

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_053028.1 RefSeqGene

    Range
    10932..22911
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001323011.3NP_001309940.1  phosphomevalonate kinase isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AL451085, CN344384, HM005718
    UniProtKB/TrEMBL
    Q6FGV9
    Conserved Domains (1) summary
    pfam04275
    Location:16109
    P-mevalo_kinase; Phosphomevalonate kinase
  2. NM_001323012.3NP_001309941.1  phosphomevalonate kinase isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate exon in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AL451085, BQ057770, HM005718
    UniProtKB/TrEMBL
    Q6FGV9
    Conserved Domains (1) summary
    cl04466
    Location:1111
    P-mevalo_kinase; Phosphomevalonate kinase
  3. NM_001348696.2NP_001335625.1  phosphomevalonate kinase isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the coding region and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (4) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    BM793483, BQ057770, HM005718
    UniProtKB/TrEMBL
    Q6FGV9
    Conserved Domains (1) summary
    cl04466
    Location:18111
    P-mevalo_kinase; Phosphomevalonate kinase
  4. NM_006556.4NP_006547.1  phosphomevalonate kinase isoform 1

    See identical proteins and their annotated locations for NP_006547.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    BC007694
    Consensus CDS
    CCDS1073.1
    UniProtKB/Swiss-Prot
    Q15126, Q5TZW9
    UniProtKB/TrEMBL
    D3DV77, Q6FGV9
    Related
    ENSP00000357452.3, ENST00000368467.4
    Conserved Domains (1) summary
    pfam04275
    Location:14123
    P-mevalo_kinase; Phosphomevalonate kinase

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    154924740..154942658 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    154064101..154082019 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)