PMVK Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PMVK |
| Official Name | phosphomevalonate kinase [Source:HGNC Symbol;Acc:HGNC:9141] |
| Ensembl ID | ENSG00000163344 |
| Bio databases IDs | |
| Aliases | phosphomevalonate kinase |
| Synonyms | 1110011E12RIK, 2900002L22Rik, HUMPMKI, PHOSPHOMEVALONATE KINASE, PMK, PMKA, PMKASE, PMKI, POROK1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PMVK often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- kinase
- ATP binding
- phosphomevalonate kinase
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Parkinson disease
- Mibelli porokeratosis
- linear porokeratosis
- androgenic alopecia
- experimental autoimmune encephalomyelitis
role in cell
- expression in
- survival
- apoptosis
- cell cycle progression
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytosol
- peroxisomes
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PMVK gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- isopentenyl diphosphate biosynthetic process, mevalonate pathway
- cholesterol biosynthetic process
- sterol biosynthetic process
- response to cholesterol
Cellular Component
Where in the cell the gene product is active
- peroxisome
- extracellular vesicular exosome
- membrane
- cytosol
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- phosphomevalonate kinase activity