Format

Send to:

Choose Destination

PMVK phosphomevalonate kinase [ Homo sapiens (human) ]

Gene ID: 10654, updated on 1-Jun-2020

Summary

Official Symbol
PMVKprovided by HGNC
Official Full Name
phosphomevalonate kinaseprovided by HGNC
Primary source
HGNC:HGNC:9141
See related
Ensembl:ENSG00000163344 MIM:607622
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

Genomic context

See PMVK in Genome Data Viewer
Location:
1q21.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (154924740..154942658, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (154897208..154909484, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene potassium calcium-activated channel subfamily N member 3 Neighboring gene Sharpr-MPRA regulatory region 4766 Neighboring gene uncharacterized LOC105371449 Neighboring gene uncharacterized LOC101928120 Neighboring gene PBX homeobox interacting protein 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 of Mibelli
MedGen: C0949506 OMIM: 175800 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: PBXIP1

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphomevalonate kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphomevalonate kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphomevalonate kinase activity TAS
Traceable Author Statement
more info
 
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
 
phosphorylation IEA
Inferred from Electronic Annotation
more info
 
regulation of cholesterol biosynthetic process TAS
Traceable Author Statement
more info
 
response to cholesterol IEP
Inferred from Expression Pattern
more info
PubMed 
sterol biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
membrane HDA PubMed 
peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxisome IDA
Inferred from Direct Assay
more info
PubMed 
NOT 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)

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
  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
    UniProtKB/TrEMBL
    Q6FGV9
    Related
    ENSP00000357452.3, ENST00000368467.4
    Conserved Domains (1) summary
    pfam04275
    Location:14123
    P-mevalo_kinase; Phosphomevalonate kinase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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