HUMAN:PMVK

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	PMVK (synonyms: PMKI)
Protein Name(s)	Phosphomevalonate kinase PMKase hPMK
External Links
UniProt	Q15126
EMBL	L77213 BT019976 BC006089 BC007694 AF026069
CCDS	CCDS1073.1
RefSeq	NP_006547.1
UniGene	Hs.30954
PDB	3CH4
PDBsum	3CH4
ProteinModelPortal	Q15126
SMR	Q15126
BioGrid	115897
IntAct	Q15126
MINT	MINT-7034566
STRING	9606.ENSP00000357452
GuidetoPHARMACOLOGY	641
SwissLipids	SLP:000001241
iPTMnet	Q15126
PhosphoSite	Q15126
BioMuta	PMVK
DMDM	3024422
REPRODUCTION-2DPAGE	IPI00220648
EPD	Q15126
PaxDb	Q15126
PeptideAtlas	Q15126
PRIDE	Q15126
DNASU	10654
Ensembl	ENST00000368467
GeneID	10654
KEGG	hsa:10654
CTD	10654
GeneCards	PMVK
HGNC	HGNC:9141
HPA	HPA029900
MIM	175800 607622
neXtProt	NX_Q15126
PharmGKB	PA33465
eggNOG	ENOG410IZWN ENOG4111IXB
HOGENOM	HOG000261666
HOVERGEN	HBG003277
InParanoid	Q15126
KO	K13273
OMA	KNDIKWF
OrthoDB	EOG7Z95NC
PhylomeDB	Q15126
TreeFam	TF312935
BioCyc	MetaCyc:HS08830-MONOMER
BRENDA	2.7.4.2
Reactome	R-HSA-191273 R-HSA-2426168
SABIO-RK	Q15126
UniPathway	UPA00057
ChiTaRS	PMVK
EvolutionaryTrace	Q15126
GenomeRNAi	10654
NextBio	40503
PRO	PR:Q15126
Proteomes	UP000005640
Bgee	Q15126
CleanEx	HS_PMVK
ExpressionAtlas	Q15126
Genevisible	Q15126
GO	GO:0005829 GO:0070062 GO:0016020 GO:0005777 GO:0005524 GO:0004631 GO:0006695 GO:0019287 GO:0070723 GO:0044281 GO:0016126
Gene3D	3.40.50.300
InterPro	IPR027417 IPR005919
PANTHER	PTHR13101
Pfam	PF04275
PIRSF	PIRSF036639
SUPFAM	SSF52540
TIGRFAMs	TIGR01223

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
part_of	GO:0016020	membrane	PMID:19946888^[1]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0070062	extracellular exosome	PMID:19056867^[2]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C	part_of:(UBERON:0001088)	Seeded From UniProt	complete
involved_in	GO:0070723	response to cholesterol	PMID:10191291^[3]	ECO:0000270	expression pattern evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0016126	sterol biosynthetic process	PMID:16519518^[4]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0006695	cholesterol biosynthetic process	PMID:8663599^[5]	ECO:0000314	direct assay evidence used in manual assertion		P	occurs_in:(UBERON:0002107)	Seeded From UniProt	complete
part_of	GO:0005829	cytosol	PMID:14729858^[6]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(UBERON:0002107)	Seeded From UniProt	complete
part_of	GO:0005777	peroxisome	PMID:17180682^[7]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0005524	ATP binding	PMID:16519518^[4]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0004631	phosphomevalonate kinase activity	PMID:16519518^[4]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0004631	phosphomevalonate kinase activity	PMID:8663599^[5]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0004631	phosphomevalonate kinase activity	PMID:14680974^[8]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	PMID:27052676^[9]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
NOT\|part_of	GO:0005777	peroxisome	PMID:14729858^[6]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0019287	isopentenyl diphosphate biosynthetic process, mevalonate pathway	PMID:21873635^[10]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000991923 RGD:1310812	P		Seeded From UniProt	complete
involved_in	GO:0006695	cholesterol biosynthetic process	PMID:21873635^[10]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000991923 UniProtKB:Q15126	P		Seeded From UniProt	complete
part_of	GO:0005777	peroxisome	PMID:21873635^[10]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000991923 UniProtKB:Q15126	C		Seeded From UniProt	complete
enables	GO:0004631	phosphomevalonate kinase activity	PMID:21873635^[10]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1915853 PANTHER:PTN000991923 RGD:1310812 UniProtKB:Q15126	F		Seeded From UniProt	complete
involved_in	GO:0019287	isopentenyl diphosphate biosynthetic process, mevalonate pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5RK24 ensembl:ENSRNOP00000028095	P		Seeded From UniProt	complete
involved_in	GO:0008299	isoprenoid biosynthetic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5RK24 ensembl:ENSRNOP00000028095	P		Seeded From UniProt	complete
enables	GO:0004631	phosphomevalonate kinase activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5RK24 ensembl:ENSRNOP00000028095	F		Seeded From UniProt	complete
enables	GO:0004631	phosphomevalonate kinase activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9D1G2 ensembl:ENSMUSP00000029564	F		Seeded From UniProt	complete
enables	GO:0004631	phosphomevalonate kinase activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR005919	F		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR005919	C		Seeded From UniProt	complete
involved_in	GO:0006695	cholesterol biosynthetic process	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR005919	P		Seeded From UniProt	complete
enables	GO:0004631	phosphomevalonate kinase activity	GO_REF:0000003	ECO:0000501	evidence used in automatic assertion	EC:2.7.4.2	F		Seeded From UniProt	complete
involved_in	GO:0045540	regulation of cholesterol biosynthetic process	Reactome:R-HSA-1655829	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0006695	cholesterol biosynthetic process	Reactome:R-HSA-191273	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	Reactome:R-HSA-191422 Reactome:R-HSA-1655839	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0004631	phosphomevalonate kinase activity	Reactome:R-HSA-191422	ECO:0000304	author statement supported by traceable reference used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0008202	steroid metabolic process	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0753	P		Seeded From UniProt	complete
enables	GO:0005524	ATP binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0067	F		Seeded From UniProt	complete
enables	GO:0016301	kinase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0418	F		Seeded From UniProt	complete
involved_in	GO:0006695	cholesterol biosynthetic process	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0152	P		Seeded From UniProt	complete
involved_in	GO:0006694	steroid biosynthetic process	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0752	P		Seeded From UniProt	complete
enables	GO:0016740	transferase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0808	F		Seeded From UniProt	complete
involved_in	GO:0008203	cholesterol metabolic process	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0153	P		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963	C		Seeded From UniProt	complete
enables	GO:0000166	nucleotide binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0547	F		Seeded From UniProt	complete
involved_in	GO:0016310	phosphorylation	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0418	P		Seeded From UniProt	complete
involved_in	GO:0006629	lipid metabolic process	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0443	P		Seeded From UniProt	complete
involved_in	GO:0016126	sterol biosynthetic process	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0756	P		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0091	C		Seeded From UniProt	complete
involved_in	GO:0019287	isopentenyl diphosphate biosynthetic process, mevalonate pathway	GO_REF:0000041	ECO:0000322	imported manually asserted information used in automatic assertion	UniPathway:UPA00057	P		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ Ghosh, D et al. (2010) Defining the membrane proteome of NK cells. J Mass Spectrom 45 1-25 PubMed GONUTS page
↑ Gonzales, PA et al. (2009) Large-scale proteomics and phosphoproteomics of urinary exosomes. J. Am. Soc. Nephrol. 20 363-79 PubMed GONUTS page
↑ Olivier, LM et al. (1999) Characterization of phosphomevalonate kinase: chromosomal localization, regulation, and subcellular targeting. J. Lipid Res. 40 672-9 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 Herdendorf, TJ & Miziorko, HM (2006) Phosphomevalonate kinase: functional investigation of the recombinant human enzyme. Biochemistry 45 3235-42 PubMed GONUTS page
↑ ^5.0 ^5.1 Chambliss, KL et al. (1996) Molecular cloning of human phosphomevalonate kinase and identification of a consensus peroxisomal targeting sequence. J. Biol. Chem. 271 17330-4 PubMed GONUTS page
↑ ^6.0 ^6.1 Hogenboom, S et al. (2004) Phosphomevalonate kinase is a cytosolic protein in humans. J. Lipid Res. 45 697-705 PubMed GONUTS page
↑ Kovacs, WJ et al. (2007) Localization of the pre-squalene segment of the isoprenoid biosynthetic pathway in mammalian peroxisomes. Histochem. Cell Biol. 127 273-90 PubMed GONUTS page
↑ Hogenboom, S et al. (2003) Cholesterol biosynthesis is not defective in peroxisome biogenesis defective fibroblasts. Mol. Genet. Metab. 80 290-5 PubMed GONUTS page
↑ Wang, J et al. (2016) Loss-of-function Mutation in PMVK Causes Autosomal Dominant Disseminated Superficial Porokeratosis. Sci Rep 6 24226 PubMed GONUTS page
↑ ^10.0 ^10.1 ^10.2 ^10.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:19946888-1] Ghosh, D et al. (2010) Defining the membrane proteome of NK cells. J Mass Spectrom 45 1-25 PubMed GONUTS page

[PMID:19056867-2] Gonzales, PA et al. (2009) Large-scale proteomics and phosphoproteomics of urinary exosomes. J. Am. Soc. Nephrol. 20 363-79 PubMed GONUTS page

[PMID:10191291-3] Olivier, LM et al. (1999) Characterization of phosphomevalonate kinase: chromosomal localization, regulation, and subcellular targeting. J. Lipid Res. 40 672-9 PubMed GONUTS page

[PMID:16519518-4] 4.0 ^4.1 ^4.2 Herdendorf, TJ & Miziorko, HM (2006) Phosphomevalonate kinase: functional investigation of the recombinant human enzyme. Biochemistry 45 3235-42 PubMed GONUTS page

[PMID:8663599-5] 5.0 ^5.1 Chambliss, KL et al. (1996) Molecular cloning of human phosphomevalonate kinase and identification of a consensus peroxisomal targeting sequence. J. Biol. Chem. 271 17330-4 PubMed GONUTS page

[PMID:14729858-6] 6.0 ^6.1 Hogenboom, S et al. (2004) Phosphomevalonate kinase is a cytosolic protein in humans. J. Lipid Res. 45 697-705 PubMed GONUTS page

[PMID:17180682-7] Kovacs, WJ et al. (2007) Localization of the pre-squalene segment of the isoprenoid biosynthetic pathway in mammalian peroxisomes. Histochem. Cell Biol. 127 273-90 PubMed GONUTS page

[PMID:14680974-8] Hogenboom, S et al. (2003) Cholesterol biosynthesis is not defective in peroxisome biogenesis defective fibroblasts. Mol. Genet. Metab. 80 290-5 PubMed GONUTS page

[PMID:27052676-9] Wang, J et al. (2016) Loss-of-function Mutation in PMVK Causes Autosomal Dominant Disseminated Superficial Porokeratosis. Sci Rep 6 24226 PubMed GONUTS page

[PMID:21873635-10] 10.0 ^10.1 ^10.2 ^10.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

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HUMAN:PMVK

Contents

Annotations

Notes

References

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