MVD
entrez
4597
canonical
uniprot
P53602
canonical
ensembl
ENSG00000167508
resolver
ensp
ENSP00000301012
resolver
ensp
ENSP00000569680
resolver
ensp
ENSP00000630231
resolver
enst
ENST00000301012
resolver
genesymbol
MVD
resolver
genesymbol_syn
MPD
resolver
hgnc
HGNC:7529
resolver
uniprot
Q53Y65
resolver
uniprot_entry
MVD1_HUMAN
resolver
uniprot_sec
Q53Y65
resolver
amino_acid_sequence
MASEKPLAAVTCTAPVNIAVIKYWGKRDEELVLPINSSLSVTLHQDQLKTTTTAVISKDFTEDRIWLNGREEDVGQPRLQACLREIRCLARKRRNSRDGDPLPSSLSCKVHVASVNNFPTAAGLASSAAGYACLAYTLARVYGVESDLSEVARRGSGSACRSLYGGFVEWQMGEQADGKDSIARQVAPESHWPELRVLILVVSAEKKLTGSTVGMRASVETSPLLRFRAESVVPARMAEMARCIRERDFPSFAQLTMKDSNQFHATCLDTFPPISYLNAISWRIIHLVHRFNAHHGDTKVAYTFDAGPNAVIFTLDDTVAEFVAAVWHGFPPGSNGDTFLKGLQVRPAPLSAELQAALAMEPTPGGVKYIIVTQVGPGPQILDDPCAHLLGPDGLPKPAA
uniprot
proteins
disease_involvement
DISEASE: Porokeratosis 7, multiple types (POROK7) [MIM:614714]: 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:18823933, ECO:0000269|PubMed:26202976}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.1.1.33
uniprot
proteins
function
FUNCTION: Catalyzes the ATP dependent decarboxylation of (R)-5-diphosphomevalonate to form isopentenyl diphosphate (IPP). Functions in the mevalonate (MVA) pathway leading to isopentenyl diphosphate (IPP), a key precursor for the biosynthesis of isoprenoids and sterol synthesis. {ECO:0000269|PubMed:18823933, ECO:0000269|PubMed:8626466, ECO:0000269|PubMed:9392419}.
uniprot
proteins
mass_dalton
43405
uniprot
proteins
mutagenesis
MUTAGEN 17; /note="N->A: 15-fold inflation in KM for mevalonate diphosphate."; /evidence="ECO:0000269|PubMed:18823933
uniprot
proteins
pathway_participation
PATHWAY: Steroid biosynthesis; cholesterol biosynthesis. {ECO:0000305}.
uniprot
proteins
protein_family
Diphosphomevalonate decarboxylase family
uniprot
proteins
pubmed
11108725
uniprot
proteins
pubmed
14972328
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18823933
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26202976
uniprot
proteins
pubmed
8626466
uniprot
proteins
pubmed
9392419
uniprot
proteins
sequence_length
400
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14972328}.
uniprot
proteins