Functions and Diseases

RBP Type Non-canonical_RBPs
Diseases Disease
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions Metabolic enzyme
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000163344 Gene ID 10654 Accession 9141
Symbol PMVK Alias PMK;PMKA;PMKASE;POROK1;HUMPMKI Full Name phosphomevalonate kinase
Status Confidence Length 11980 bases Strand Minus strand
Position 1 : 154924740 - 154936719 RNA binding domain N.A.
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]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal

Transcripts

Name Transcript ID bp Protein Translation ID
PMVK-201 ENST00000368467 1002 192aa ENSP00000357452

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0004631enables phosphomevalonate kinase activity3IBA,IDA,TASHomo_sapiens(9606)Function
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005524enables ATP binding1IDAHomo_sapiens(9606)Function
GO:0005777NOT located_in peroxisome2IDAHomo_sapiens(9606)Component
GO:0005829located_in cytosol2IDA,TASHomo_sapiens(9606)Component
GO:0006695involved_in cholesterol biosynthetic process3IBA,IDA,TASHomo_sapiens(9606)Process
GO:0016020located_in membrane1HDAHomo_sapiens(9606)Component
GO:0016126involved_in sterol biosynthetic process1IDAHomo_sapiens(9606)Process
GO:0016310involved_in phosphorylation1IEAHomo_sapiens(9606)Process
GO:0019287involved_in isopentenyl diphosphate biosynthetic process, mevalonate pathway2IBA,IEAHomo_sapiens(9606)Process
GO:0070062located_in extracellular exosome1HDAHomo_sapiens(9606)Component
GO:0070723involved_in response to cholesterol1IEPHomo_sapiens(9606)Process

Expression