Seroatlas · Human Serome Atlas

PMVK

Phosphomevalonate kinase

Also known as: HUMPMKI, PMK, PMKA, PMVK_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q15126
Gene
PMVK
Ensembl
ENSG00000163344
Chromosome
1
Canonical length
192 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

192 residues, UniProt reviewed canonical sequence.

>Q15126|PMVK
     1  MAPLGGAPRL VLLFSGKRKS GKDFVTEALQ SRLGADVCAV LRLSGPLKEQ YAQEHGLNFQ
    61  RLLDTSTYKE AFRKDMIRWG EEKRQADPGF FCRKIVEGIS QPIWLVSDTR RVSDIQWFRE
   121  AYGAVTQTVR VVALEQSRQQ RGWVFTPGVD DAESECGLDN FGDFDWVIEN HGVEQRLEEQ
   181  LENLIEFIRS RL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PMVK can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.27
Highest tissue expression
111 nTPM

Expression across tissuesHPA

Tissue

  • liver: 111 nTPM
  • basal ganglia: 104 nTPM
  • choroid plexus: 100 nTPM
  • cerebral cortex: 97 nTPM
  • amygdala: 91 nTPM
  • esophagus: 89 nTPM

Single-cell type

  • esophageal suprabasal cells: 433 nCPM
  • esophageal apical cells: 416 nCPM
  • cytotrophoblasts: 294 nCPM
  • syncytiotrophoblasts: 290 nCPM
  • esophageal basal cells: 219 nCPM
  • enterocytes: 218 nCPM

Immune cell

  • non-classical monocyte: 221 nTPM
  • intermediate monocyte: 206 nTPM
  • T-reg: 135 nTPM
  • memory B-cell: 115 nTPM
  • naive B-cell: 112 nTPM
  • MAIT T-cell: 110 nTPM

Brain region

  • thalamus: 61 nTPM
  • basal ganglia: 54 nTPM
  • white matter: 53 nTPM
  • amygdala: 53 nTPM
  • medulla oblongata: 51 nTPM
  • cerebellum: 50 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PMVK.

Disease | AllUniProt

Conditions PMVK is implicated in, by any mechanism.

  • Porokeratosis 1, multiple types (POROK1) MIM:175800

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 58 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.4
gnomAD pLI
0
gnomAD missense Z
0.75
DepMap mean gene effect
-0.29
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PMVK as an antibody target. Whether an autoantibody or antibody against PMVK could matter depends on whether native PMVK is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PMVK is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PMVK as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PMVK. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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