PMVK
entrez
10654
canonical
uniprot
Q15126
canonical
ensembl
ENSG00000163344
resolver
ensp
ENSP00000357452
resolver
enst
ENST00000368467
resolver
genesymbol
PMVK
resolver
genesymbol_syn
PMKI
resolver
hgnc
HGNC:9141
resolver
uniprot
D3DV77
resolver
uniprot
Q5TZW9
resolver
uniprot
Q6FGV9
resolver
uniprot_entry
PMVK_HUMAN
resolver
uniprot_entry
Q6FGV9_HUMAN
resolver
uniprot_sec
D3DV77
resolver
uniprot_sec
Q5TZW9
resolver
amino_acid_sequence
MAPLGGAPRLVLLFSGKRKSGKDFVTEALQSRLGADVCAVLRLSGPLKEQYAQEHGLNFQRLLDTSTYKEAFRKDMIRWGEEKRQADPGFFCRKIVEGISQPIWLVSDTRRVSDIQWFREAYGAVTQTVRVVALEQSRQQRGWVFTPGVDDAESECGLDNFGDFDWVIENHGVEQRLEEQLENLIEFIRSRL
uniprot
proteins
disease_involvement
DISEASE: Porokeratosis 1, multiple types (POROK1) [MIM:175800]: A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported. {ECO:0000269|PubMed:26202976, ECO:0000269|PubMed:27052676}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.4.2
uniprot
proteins
function
FUNCTION: Catalyzes the reversible ATP-dependent phosphorylation of mevalonate 5-phosphate to produce mevalonate diphosphate and ADP, a key step in the mevalonic acid mediated biosynthesis of isopentenyl diphosphate and other polyisoprenoid metabolites. {ECO:0000269|PubMed:16519518, ECO:0000269|PubMed:17902708, ECO:0000269|PubMed:8663599, ECO:0000269|PubMed:9392419}.
uniprot
proteins
mass_dalton
21995
uniprot
proteins
mutagenesis
MUTAGEN 17; /note="K->M: Approximately 8-fold decrease in Vmax for MgATP and R-MVP. Approximately 5-fold increase in KM for MgATP and R-MVP."; /evidence="ECO:0000269|PubMed:16519518"; MUTAGEN 18; /note="R->Q: Approximately 85-fold decrease in Vmax for MgATP and R-MVP. Approximately 5-fold increase in KM for MgATP and R-MVP."; /evidence="ECO:0000269|PubMed:16519518"; MUTAGEN 19; /note="K->M: Approximately 9-fold decrease in Vmax for MgATP and R-MVP. Approximately 10-fold increase in KM for MgATP and R-MVP."; /evidence="ECO:0000269|PubMed:16519518"; MUTAGEN 22; /note="K->M: Approximately 100000-fold decrease in Vmax for MgATP."; /evidence="ECO:0000269|PubMed:16519518"; MUTAGEN 23; /note="D->N: Approximately 7-fold decrease in Vmax for MgATP and R-MVP. Approximately 10-fold increase in KM for MgATP and 5-fold increase in KM for R-MVP."; /evidence="ECO:0000269|PubMed:16519518"; MUTAGEN 48; /note="K->M: Approximately 1400-fold decrease in Vmax for MgATP and R-MVP. Approximately 3-fold increase in KM for MgATP and R-MVP."; /evidence="ECO:0000269|PubMed:17902708"; MUTAGEN 69; /note="K->M: Approximately 500-fold decrease in Vmax for MgATP and R-MVP. Approximately 3-fold increase in KM for MgATP and R-MVP."; /evidence="ECO:0000269|PubMed:17902708"; MUTAGEN 73; /note="R->M: Approximately 3000-fold decrease in Vmax for MgATP and R-MVP. No change in KM for MgATP and approximately 3-fold increase in KM for R-MVP."; /evidence="ECO:0000269|PubMed:17902708"; MUTAGEN 84; /note="R->M: Approximately 10-fold decrease in Vmax for MgATP and R-MVP. Approximately 3-fold increase in KM for MgATP and 50-fold increase in KM for R-MVP."; /evidence="ECO:0000269|PubMed:17902708"; MUTAGEN 93; /note="R->M: Almost no change in KM and Vmax for MgATP and R-MVP."; MUTAGEN 110; /note="R->M: Approximately 20000-fold decrease in Vmax for MgATP."; /evidence="ECO:0000269|PubMed:17902708"; MUTAGEN 111; /note="R->M: Approximately 65-fold decrease in Vmax for MgATP and R-MVP. Approximately 8-fold increase in KM for MgATP and 60-fold increase in KM for R-MVP."; /evidence="ECO:0000269|PubMed:17902708"; MUTAGEN 130; /note="R->M: Approximately 4-fold decrease in Vmax for MgATP and R-MVP. Approximately 3-fold increase in KM for MgATP and R-MVP."; MUTAGEN 138; /note="R->M: Approximately 3-fold decrease in Vmax for MgATP and R-MVP. Approximately 5-fold increase in KM for MgATP and no change in KM for R-MVP."; MUTAGEN 141; /note="R->M: Approximately 15-fold decrease in Vmax for MgATP and R-MVP. Approximately 50-fold increase in KM for MgATP and approximately 7-fold in KM for R-MVP."; /evidence="ECO:0000269|PubMed:17902708
uniprot
proteins
pathway_participation
PATHWAY: Isoprenoid biosynthesis; isopentenyl diphosphate biosynthesis via mevalonate pathway; isopentenyl diphosphate from (R)-mevalonate: step 2/3. {ECO:0000305}.
uniprot
proteins
pubmed
10191291
uniprot
proteins
pubmed
14729858
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16519518
uniprot
proteins
pubmed
17902708
uniprot
proteins
pubmed
18618710
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26202976
uniprot
proteins
pubmed
27052676
uniprot
proteins
pubmed
8663599
uniprot
proteins
pubmed
9392419
uniprot
proteins
sequence_length
192
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:10191291, ECO:0000269|PubMed:27052676}.
uniprot
proteins