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10654 PMVK

10654

PMVK

phosphomevalonate kinase

protein-coding

Homo sapiens

基因描述

Type Description
Definition phosphomevalonate kinase

研究结论

Date Results Publications
2017-03-11 10:11:00 Data indicate that exome sequencing revealed disseminated superficial porokeratosis (DSP)-associated mutations in phosphomevalonate kinase gene (PMVK). 27052676
2010-09-15 22:06:00 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) 20628086
2010-09-15 22:06:00 Observational study of gene-disease association. (HuGE Navigator) 19913121
2010-01-21 00:00:00 found an exclusive cytosolic localization of both endogenously expressed PMVK(in human fibroblasts, human liver, and HEK293 cells) and overexpressed PMVK. No indication of a peroxisomal localization was obtained. 14729858
2010-01-21 00:00:00 Binding of mevalonate 5-phosphate causes the phosphomevalonate kinase structure to compress (tau(c) = 13.5 nsec), whereas subsequent binding of Mg-ADP opens the structure up (tau(c) = 15.6 nsec). 18798562

名称对应

Type IDs
Synonymous HUMPMKI, PMK, PMKA, PMKASE, POROK1
Gene
UniProtKB-ID: PMVK_HUMAN, Q6FGV9_HUMAN
UniprotKB: Q15126, Q6FGV9
UniParc: UPI000013E263
EMBL: BC007694, AF026069, L77213, CH471121, CR541998, HM005718, BT019976, AK312803, BC006089
Ensembl: ENSG00000163344
KO: hsa:10654
Nucleutide sequences
EMBL-CDS: AAH07694.1, AAC60791.1, AAH06089.1, AAC37593.1, AAV38779.1, EAW53178.1, BAG35661.1, CAG46795.1, AEE61315.1, EAW53177.1
Gene_ORFName: hCG_1739272
Ensembl_TRS: ENST00000368467
Protein sequencees
Ensembl_PRO: ENSP00000357452
RefSeq: NP_001309940.1, NP_001335625.1, NP_001309941.1, NP_006547.1
Others
UniRef100: UniRef100_Q15126
UniRef90: UniRef90_Q15126
UniRef50: UniRef50_Q15126
UniGene: Hs.30954
CCDS: CCDS1073.1

全选

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