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UniProtKB - Q03426 (KIME_HUMAN)
Protein
Mevalonate kinase
Gene
MVK
Organism
Homo sapiens (Human)
Status
Functioni
Catalyzes the phosphorylation of mevalonate to mevalonate 5-phosphate, a key step in isoprenoid and cholesterol biosynthesis (PubMed:9325256, PubMed:18302342, PubMed:9392419, PubMed:11278915).
4 PublicationsCatalytic activityi
- EC:2.7.1.364 Publications
Cofactori
Mg2+By similarity
Activity regulationi
Farnesyl pyrophosphate and geranyl pyrophosphate inhibit mevalonate kinase activity by binding competitively at the ATP-binding sites.2 Publications
Kineticsi
- KM=74 µM for ATP1 Publication
- KM=178 µM for ATP1 Publication
- KM=12.2 µM for adenosine 5-O-[S-(acetamidoproxyl)-3-thiotriphosphate]1 Publication
- KM=24 µM for (R)-mevalonate1 Publication
- KM=40 µM for (R)-mevalonate1 Publication
- Vmax=37 µmol/min/mg enzyme with (R)-mevalonate as substrate1 Publication
- Vmax=28 µmol/min/mg enzyme with (R)-mevalonate as substrate1 Publication
: isopentenyl diphosphate biosynthesis via mevalonate pathway Pathwayi
This protein is involved in step 1 of the subpathway that synthesizes isopentenyl diphosphate from (R)-mevalonate.Curated This subpathway is part of the pathway isopentenyl diphosphate biosynthesis via mevalonate pathway, which is itself part of Isoprenoid biosynthesis.View all proteins of this organism that are known to be involved in the subpathway that synthesizes isopentenyl diphosphate from (R)-mevalonate, the pathway isopentenyl diphosphate biosynthesis via mevalonate pathway and in Isoprenoid biosynthesis.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 13 | ATPBy similarity | 1 | |
Binding sitei | 55 | ATPBy similarity | 1 | |
Binding sitei | 135 | ATPBy similarity | 1 | |
Active sitei | 146 | Proton donor1 Publication | 1 | |
Metal bindingi | 146 | MagnesiumBy similarity | 1 | |
Metal bindingi | 193 | MagnesiumBy similarity | 1 | |
Active sitei | 204 | Proton acceptor1 Publication | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 140 – 146 | ATPBy similarity | 7 |
GO - Molecular functioni
- ATP binding Source: UniProtKB
- identical protein binding Source: UniProtKB
- magnesium ion binding Source: UniProtKB
- mevalonate kinase activity Source: UniProtKB
GO - Biological processi
- cholesterol biosynthetic process Source: UniProtKB
- isopentenyl diphosphate biosynthetic process, mevalonate pathway Source: GO_Central
- isoprenoid biosynthetic process Source: UniProtKB
- negative regulation of inflammatory response Source: BHF-UCL
Keywordsi
Molecular function | Kinase, Transferase |
Biological process | Cholesterol biosynthesis, Cholesterol metabolism, Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol biosynthesis, Sterol metabolism |
Ligand | ATP-binding, Magnesium, Metal-binding, Nucleotide-binding |
Enzyme and pathway databases
BRENDAi | 2.7.1.36, 2681 |
PathwayCommonsi | Q03426 |
Reactomei | R-HSA-191273, Cholesterol biosynthesis R-HSA-2426168, Activation of gene expression by SREBF (SREBP) |
SABIO-RKi | Q03426 |
SignaLinki | Q03426 |
UniPathwayi | UPA00057;UER00098 |
Chemistry databases
SwissLipidsi | SLP:000001240 |
Names & Taxonomyi
Protein namesi | |
Gene namesi | Name:MVKImported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:7530, MVK |
MIMi | 251170, gene |
neXtProti | NX_Q03426 |
VEuPathDBi | HostDB:ENSG00000110921 |
Subcellular locationi
Peroxisome
- Peroxisome By similarity
Cytoplasm and Cytosol
- Cytoplasm 1 Publication
Cytosol
- cytosol Source: UniProtKB
Peroxisome
- peroxisome Source: UniProtKB
Other locations
- intracellular membrane-bounded organelle Source: HPA
Keywords - Cellular componenti
Cytoplasm, PeroxisomePathology & Biotechi
Involvement in diseasei
Mevalonic aciduria (MEVA)5 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAccumulation of mevalonic acid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_004022 | 20 | H → P in HIDS and MEVA. 3 PublicationsCorresponds to variant dbSNP:rs104895295EnsemblClinVar. | 1 | |
Natural variantiVAR_010964 | 243 | T → I in MEVA. 1 PublicationCorresponds to variant dbSNP:rs104895314EnsemblClinVar. | 1 | |
Natural variantiVAR_010965 | 264 | L → F in MEVA. 2 PublicationsCorresponds to variant dbSNP:rs104895315EnsemblClinVar. | 1 | |
Natural variantiVAR_010966 | 265 | L → P in MEVA. 1 PublicationCorresponds to variant dbSNP:rs104895316EnsemblClinVar. | 1 | |
Natural variantiVAR_004024 | 268 | I → T in HIDS and MEVA. 6 PublicationsCorresponds to variant dbSNP:rs104895304EnsemblClinVar. | 1 | |
Natural variantiVAR_004025 | 301 | N → T in MEVA; diminished activity. 1 PublicationCorresponds to variant dbSNP:rs121917789EnsemblClinVar. | 1 | |
Natural variantiVAR_009068 | 310 | V → M in MEVA and HIDS. 3 PublicationsCorresponds to variant dbSNP:rs104895319EnsemblClinVar. | 1 | |
Natural variantiVAR_004026 | 334 | A → T in MEVA. 3 PublicationsCorresponds to variant dbSNP:rs104895317EnsemblClinVar. | 1 |
Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS)5 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAutosomal recessive disease characterized by recurrent episodes of unexplained high fever associated with skin rash, diarrhea, adenopathy (swollen, tender lymph nodes), arthralgias and/or arthritis. Concentration of IgD, and often IgA, are above normal.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010956 | 20 | H → N in HIDS. 1 PublicationCorresponds to variant dbSNP:rs11544299EnsemblClinVar. | 1 | |
Natural variantiVAR_004022 | 20 | H → P in HIDS and MEVA. 3 PublicationsCorresponds to variant dbSNP:rs104895295EnsemblClinVar. | 1 | |
Natural variantiVAR_029519 | 20 | H → Q in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895335EnsemblClinVar. | 1 | |
Natural variantiVAR_010957 | 39 | L → P in HIDS. 2 PublicationsCorresponds to variant dbSNP:rs104895296EnsemblClinVar. | 1 | |
Natural variantiVAR_029520 | 132 | V → I in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895336EnsemblClinVar. | 1 | |
Natural variantiVAR_010959 | 135 | S → L in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895297EnsemblClinVar. | 1 | |
Natural variantiVAR_010960 | 148 | A → T in HIDS. 2 PublicationsCorresponds to variant dbSNP:rs104895298EnsemblClinVar. | 1 | |
Natural variantiVAR_010961 | 150 | S → L in HIDS. 1 PublicationCorresponds to variant dbSNP:rs747116992EnsemblClinVar. | 1 | |
Natural variantiVAR_004023 | 167 | P → L in HIDS. 2 PublicationsCorresponds to variant dbSNP:rs104895300EnsemblClinVar. | 1 | |
Natural variantiVAR_029521 | 171 | G → R in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895337EnsemblClinVar. | 1 | |
Natural variantiVAR_010962 | 202 | G → R in HIDS and POROK3. 2 PublicationsCorresponds to variant dbSNP:rs104895301EnsemblClinVar. | 1 | |
Natural variantiVAR_029522 | 211 | G → E in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895325EnsemblClinVar. | 1 | |
Natural variantiVAR_010963 | 215 | R → Q in HIDS. 2 PublicationsCorresponds to variant dbSNP:rs104895303EnsemblClinVar. | 1 | |
Natural variantiVAR_029523 | 250 | V → I in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895339EnsemblClinVar. | 1 | |
Natural variantiVAR_029524 | 265 | L → R in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895316EnsemblClinVar. | 1 | |
Natural variantiVAR_004024 | 268 | I → T in HIDS and MEVA. 6 PublicationsCorresponds to variant dbSNP:rs104895304EnsemblClinVar. | 1 | |
Natural variantiVAR_010967 | 309 | G → S in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895305EnsemblClinVar. | 1 | |
Natural variantiVAR_009068 | 310 | V → M in MEVA and HIDS. 3 PublicationsCorresponds to variant dbSNP:rs104895319EnsemblClinVar. | 1 | |
Natural variantiVAR_010968 | 326 | G → R in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895308EnsemblClinVar. | 1 | |
Natural variantiVAR_029527 | 376 | G → V in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895340EnsemblClinVar. | 1 | |
Natural variantiVAR_004027 | 377 | V → I in HIDS; most frequent mutation. 5 PublicationsCorresponds to variant dbSNP:rs28934897EnsemblClinVar. | 1 |
Porokeratosis 3, multiple types (POROK3)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_075036 | 12 | G → R in POROK3. 1 Publication | 1 | |
Natural variantiVAR_075037 | 41 | L → P in POROK3. 1 PublicationCorresponds to variant dbSNP:rs397514571EnsemblClinVar. | 1 | |
Natural variantiVAR_010962 | 202 | G → R in HIDS and POROK3. 2 PublicationsCorresponds to variant dbSNP:rs104895301EnsemblClinVar. | 1 | |
Natural variantiVAR_075038 | 255 | L → P in POROK3. 1 PublicationCorresponds to variant dbSNP:rs397514570EnsemblClinVar. | 1 | |
Natural variantiVAR_075039 | 279 | L → P in POROK3. 1 Publication | 1 | |
Natural variantiVAR_075040 | 291 | Y → D in POROK3. 1 Publication | 1 | |
Natural variantiVAR_075041 | 312 | H → R in POROK3. 1 Publication | 1 | |
Natural variantiVAR_075042 | 365 | F → S in POROK3. 1 PublicationCorresponds to variant dbSNP:rs398122911EnsemblClinVar. | 1 | |
Natural variantiVAR_075043 | 376 | G → S in POROK3. 1 PublicationCorresponds to variant dbSNP:rs971159663EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 19 | E → D: No change in protein stability. Weak decrease in kinase activity. Approximately 2-fold decrease in Vmax. Approximately 2-fold decrease affinity for ATP and mevalonate. 1 Publication | 1 | |
Mutagenesisi | 56 | I → A: No effect on kinase activity. Approximately 4- and 5-fold decrease affinities for ATP and mevalonate, respectively. 1 Publication | 1 | |
Mutagenesisi | 104 | T → A: No effect on kinase activity. Approximately 4-fold increase affinity for ATP. Normal affinity for mevalonate. 1 Publication | 1 | |
Mutagenesisi | 145 | S → A: Modest changes in KM for ATP. 20-fold increase in KM for mevalonate. Approximately 2-fold decrease in Vmax. 1 Publication | 1 | |
Mutagenesisi | 146 | S → A: Modest changes in KM for ATP. 20-fold increase in KM for mevalonate. 4000-fold decrease in Vmax. 1 Publication | 1 | |
Mutagenesisi | 149 | Y → A: No effect on kinase activity. Approximately 4- and 8-fold decrease affinities for ATP and mevalonate, respectively. 1 Publication | 1 | |
Mutagenesisi | 193 | E → Q: No change in protein stability. Decreased kinase activity. Approximately 50-fold decrease in Vmax. Approximately 20- and 40-fold decrease affinities for ATP and mevalonate, respectively. 1 Publication | 1 | |
Mutagenesisi | 196 | I → A: No effect on kinase activity. Approximately 2- and 3-fold decrease affinities for ATP and mevalonate, respectively. 1 Publication | 1 | |
Mutagenesisi | 201 | S → A: Modest changes in KM for ATP. 100-fold increase in KM for mevalonate. Approximately 2-fold increase in Vmax. 1 Publication | 1 | |
Mutagenesisi | 204 | D → A: No change in protein stability. Loss of kinase activity. Normal affinities for ATP and mevalonate. 1 Publication | 1 | |
Mutagenesisi | 204 | D → N: No change in protein stability. Loss of kinase activity. Normal affinities for ATP and mevalonate. 1 Publication | 1 | |
Mutagenesisi | 243 | T → A: Modest changes in KM for ATP. 40-fold increase in KM for mevalonate. Approximately 2-fold decrease in Vmax. 1 Publication | 1 | |
Mutagenesisi | 296 | E → Q: No change in protein stability. No effect on kinase activity. 1 Publication | 1 |
Keywords - Diseasei
Cataract, Disease variantOrganism-specific databases
DisGeNETi | 4598 |
MalaCardsi | MVK |
MIMi | 175900, phenotype 260920, phenotype 610377, phenotype |
OpenTargetsi | ENSG00000110921 |
Orphaneti | 79152, Disseminated superficial actinic porokeratosis 343, Hyperimmunoglobulinemia D with periodic fever 29, Mevalonic aciduria 735, Porokeratosis of Mibelli |
PharmGKBi | PA31331 |
Miscellaneous databases
Pharosi | Q03426, Tchem |
Chemistry databases
DrugBanki | DB04695, Farnesyl thiopyrophosphate |
GuidetoPHARMACOLOGYi | 640 |
Genetic variation databases
BioMutai | MVK |
DMDMi | 417215 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000156657 | 1 – 396 | Mevalonate kinaseAdd BLAST | 396 |
Proteomic databases
EPDi | Q03426 |
jPOSTi | Q03426 |
MassIVEi | Q03426 |
MaxQBi | Q03426 |
PaxDbi | Q03426 |
PeptideAtlasi | Q03426 |
PRIDEi | Q03426 |
ProteomicsDBi | 58211 |
PTM databases
iPTMneti | Q03426 |
PhosphoSitePlusi | Q03426 |
Expressioni
Gene expression databases
Bgeei | ENSG00000110921, Expressed in C1 segment of cervical spinal cord and 232 other tissues |
ExpressionAtlasi | Q03426, baseline and differential |
Genevisiblei | Q03426, HS |
Organism-specific databases
HPAi | ENSG00000110921, Tissue enhanced (liver) |
Interactioni
Subunit structurei
Homodimer.
1 PublicationBinary interactionsi
Q03426
With | #Exp. | IntAct |
---|---|---|
itself | 12 | EBI-740630,EBI-740630 |
POT1 [Q9NUX5] | 2 | EBI-740630,EBI-752420 |
RNF141 [Q8WVD5] | 3 | EBI-740630,EBI-4308142 |
GO - Molecular functioni
- identical protein binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 110683, 34 interactors |
IntActi | Q03426, 16 interactors |
STRINGi | 9606.ENSP00000443551 |
Miscellaneous databases
RNActi | Q03426, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
AlphaFoldDBi | Q03426 |
SMRi | Q03426 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q03426 |
Family & Domainsi
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG1511, Eukaryota |
GeneTreei | ENSGT00950000183187 |
HOGENOMi | CLU_017814_0_1_1 |
InParanoidi | Q03426 |
OMAi | NTVCTYG |
OrthoDBi | 762492at2759 |
PhylomeDBi | Q03426 |
TreeFami | TF313775 |
Family and domain databases
Gene3Di | 3.30.230.10, 1 hit 3.30.70.890, 1 hit |
InterProi | View protein in InterPro IPR013750, GHMP_kinase_C_dom IPR036554, GHMP_kinase_C_sf IPR006204, GHMP_kinase_N_dom IPR006203, GHMP_knse_ATP-bd_CS IPR006205, Mev_gal_kin IPR020568, Ribosomal_S5_D2-typ_fold IPR014721, Ribosomal_S5_D2-typ_fold_subgr |
PANTHERi | PTHR43290, PTHR43290, 1 hit |
Pfami | View protein in Pfam PF08544, GHMP_kinases_C, 1 hit PF00288, GHMP_kinases_N, 1 hit |
SUPFAMi | SSF54211, SSF54211, 1 hit SSF55060, SSF55060, 1 hit |
TIGRFAMsi | TIGR00549, mevalon_kin, 1 hit |
PROSITEi | View protein in PROSITE PS00627, GHMP_KINASES_ATP, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 9 potential isoforms that are computationally mapped.Show allAlign All
Q03426-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MLSEVLLVSA PGKVILHGEH AVVHGKVALA VSLNLRTFLR LQPHSNGKVD
60 70 80 90 100
LSLPNIGIKR AWDVARLQSL DTSFLEQGDV TTPTSEQVEK LKEVAGLPDD
110 120 130 140 150
CAVTERLAVL AFLYLYLSIC RKQRALPSLD IVVWSELPPG AGLGSSAAYS
160 170 180 190 200
VCLAAALLTV CEEIPNPLKD GDCVNRWTKE DLELINKWAF QGERMIHGNP
210 220 230 240 250
SGVDNAVSTW GGALRYHQGK ISSLKRSPAL QILLTNTKVP RNTRALVAGV
260 270 280 290 300
RNRLLKFPEI VAPLLTSIDA ISLECERVLG EMGEAPAPEQ YLVLEELIDM
310 320 330 340 350
NQHHLNALGV GHASLDQLCQ VTRARGLHSK LTGAGGGGCG ITLLKPGLEQ
360 370 380 390
PEVEATKQAL TSCGFDCLET SIGAPGVSIH SATSLDSRVQ QALDGL
Computationally mapped potential isoform sequencesi
There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF5H8H2 | F5H8H2_HUMAN | Mevalonate kinase | MVK | 344 | Annotation score: | ||
A0A1B0GWC2 | A0A1B0GWC2_HUMAN | Mevalonate kinase | MVK | 346 | Annotation score: | ||
F5GXC0 | F5GXC0_HUMAN | Mevalonate kinase | MVK | 170 | Annotation score: | ||
F5H092 | F5H092_HUMAN | Mevalonate kinase | MVK | 200 | Annotation score: | ||
A0A1B0GWF3 | A0A1B0GWF3_HUMAN | Mevalonate kinase | MVK | 150 | Annotation score: | ||
F5H368 | F5H368_HUMAN | Mevalonate kinase | MVK | 117 | Annotation score: | ||
A0A0B4J236 | A0A0B4J236_HUMAN | Mevalonate kinase | MVK hCG_40321 | 115 | Annotation score: | ||
F5H163 | F5H163_HUMAN | Mevalonate kinase | MVK | 83 | Annotation score: | ||
A0A1W2PS16 | A0A1W2PS16_HUMAN | Mevalonate kinase | MVK | 117 | Annotation score: |
Sequence cautioni
The sequence CAA53059 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_075036 | 12 | G → R in POROK3. 1 Publication | 1 | |
Natural variantiVAR_010956 | 20 | H → N in HIDS. 1 PublicationCorresponds to variant dbSNP:rs11544299EnsemblClinVar. | 1 | |
Natural variantiVAR_004022 | 20 | H → P in HIDS and MEVA. 3 PublicationsCorresponds to variant dbSNP:rs104895295EnsemblClinVar. | 1 | |
Natural variantiVAR_029519 | 20 | H → Q in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895335EnsemblClinVar. | 1 | |
Natural variantiVAR_010957 | 39 | L → P in HIDS. 2 PublicationsCorresponds to variant dbSNP:rs104895296EnsemblClinVar. | 1 | |
Natural variantiVAR_075037 | 41 | L → P in POROK3. 1 PublicationCorresponds to variant dbSNP:rs397514571EnsemblClinVar. | 1 | |
Natural variantiVAR_010958 | 52 | S → N2 PublicationsCorresponds to variant dbSNP:rs7957619EnsemblClinVar. | 1 | |
Natural variantiVAR_029520 | 132 | V → I in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895336EnsemblClinVar. | 1 | |
Natural variantiVAR_010959 | 135 | S → L in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895297EnsemblClinVar. | 1 | |
Natural variantiVAR_010960 | 148 | A → T in HIDS. 2 PublicationsCorresponds to variant dbSNP:rs104895298EnsemblClinVar. | 1 | |
Natural variantiVAR_010961 | 150 | S → L in HIDS. 1 PublicationCorresponds to variant dbSNP:rs747116992EnsemblClinVar. | 1 | |
Natural variantiVAR_004023 | 167 | P → L in HIDS. 2 PublicationsCorresponds to variant dbSNP:rs104895300EnsemblClinVar. | 1 | |
Natural variantiVAR_029521 | 171 | G → R in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895337EnsemblClinVar. | 1 | |
Natural variantiVAR_010962 | 202 | G → R in HIDS and POROK3. 2 PublicationsCorresponds to variant dbSNP:rs104895301EnsemblClinVar. | 1 | |
Natural variantiVAR_029522 | 211 | G → E in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895325EnsemblClinVar. | 1 | |
Natural variantiVAR_010963 | 215 | R → Q in HIDS. 2 PublicationsCorresponds to variant dbSNP:rs104895303EnsemblClinVar. | 1 | |
Natural variantiVAR_010964 | 243 | T → I in MEVA. 1 PublicationCorresponds to variant dbSNP:rs104895314EnsemblClinVar. | 1 | |
Natural variantiVAR_029523 | 250 | V → I in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895339EnsemblClinVar. | 1 | |
Natural variantiVAR_075038 | 255 | L → P in POROK3. 1 PublicationCorresponds to variant dbSNP:rs397514570EnsemblClinVar. | 1 | |
Natural variantiVAR_010965 | 264 | L → F in MEVA. 2 PublicationsCorresponds to variant dbSNP:rs104895315EnsemblClinVar. | 1 | |
Natural variantiVAR_010966 | 265 | L → P in MEVA. 1 PublicationCorresponds to variant dbSNP:rs104895316EnsemblClinVar. | 1 | |
Natural variantiVAR_029524 | 265 | L → R in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895316EnsemblClinVar. | 1 | |
Natural variantiVAR_004024 | 268 | I → T in HIDS and MEVA. 6 PublicationsCorresponds to variant dbSNP:rs104895304EnsemblClinVar. | 1 | |
Natural variantiVAR_075039 | 279 | L → P in POROK3. 1 Publication | 1 | |
Natural variantiVAR_075040 | 291 | Y → D in POROK3. 1 Publication | 1 | |
Natural variantiVAR_004025 | 301 | N → T in MEVA; diminished activity. 1 PublicationCorresponds to variant dbSNP:rs121917789EnsemblClinVar. | 1 | |
Natural variantiVAR_010967 | 309 | G → S in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895305EnsemblClinVar. | 1 | |
Natural variantiVAR_009068 | 310 | V → M in MEVA and HIDS. 3 PublicationsCorresponds to variant dbSNP:rs104895319EnsemblClinVar. | 1 | |
Natural variantiVAR_075041 | 312 | H → R in POROK3. 1 Publication | 1 | |
Natural variantiVAR_010968 | 326 | G → R in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895308EnsemblClinVar. | 1 | |
Natural variantiVAR_004026 | 334 | A → T in MEVA. 3 PublicationsCorresponds to variant dbSNP:rs104895317EnsemblClinVar. | 1 | |
Natural variantiVAR_029525 | 335 | G → S. Corresponds to variant dbSNP:rs11614976Ensembl. | 1 | |
Natural variantiVAR_029526 | 356 | T → M1 PublicationCorresponds to variant dbSNP:rs104895342EnsemblClinVar. | 1 | |
Natural variantiVAR_075042 | 365 | F → S in POROK3. 1 PublicationCorresponds to variant dbSNP:rs398122911EnsemblClinVar. | 1 | |
Natural variantiVAR_075043 | 376 | G → S in POROK3. 1 PublicationCorresponds to variant dbSNP:rs971159663EnsemblClinVar. | 1 | |
Natural variantiVAR_029527 | 376 | G → V in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895340EnsemblClinVar. | 1 | |
Natural variantiVAR_004027 | 377 | V → I in HIDS; most frequent mutation. 5 PublicationsCorresponds to variant dbSNP:rs28934897EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M88468 mRNA Translation: AAB59362.1 X75311 mRNA Translation: CAA53060.1 X75311 mRNA Translation: CAA53059.1 Different initiation. AF217535 , AF217528, AF217529, AF217530, AF217531, AF217532, AF217533, AF217534 Genomic DNA Translation: AAF82407.1 BC016140 mRNA Translation: AAH16140.1 |
CCDSi | CCDS9132.1 |
PIRi | A42919 |
RefSeqi | NP_000422.1, NM_000431.3 NP_001107657.1, NM_001114185.2 NP_001288111.1, NM_001301182.1 XP_016874803.1, XM_017019314.1 |
Genome annotation databases
Ensembli | ENST00000228510.8; ENSP00000228510.3; ENSG00000110921.14 ENST00000539575.4; ENSP00000443551.2; ENSG00000110921.14 |
GeneIDi | 4598 |
KEGGi | hsa:4598 |
MANE-Selecti | ENST00000228510.8; ENSP00000228510.3; NM_000431.4; NP_000422.1 |
UCSCi | uc009zvk.4, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
INFEVERS Repertory of FMF and hereditary autoinflammatory disorders mutations |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M88468 mRNA Translation: AAB59362.1 X75311 mRNA Translation: CAA53060.1 X75311 mRNA Translation: CAA53059.1 Different initiation. AF217535 , AF217528, AF217529, AF217530, AF217531, AF217532, AF217533, AF217534 Genomic DNA Translation: AAF82407.1 BC016140 mRNA Translation: AAH16140.1 |
CCDSi | CCDS9132.1 |
PIRi | A42919 |
RefSeqi | NP_000422.1, NM_000431.3 NP_001107657.1, NM_001114185.2 NP_001288111.1, NM_001301182.1 XP_016874803.1, XM_017019314.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2R3V | X-ray | 2.50 | A/B/C/D | 1-396 | [»] | |
AlphaFoldDBi | Q03426 | |||||
SMRi | Q03426 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 110683, 34 interactors |
IntActi | Q03426, 16 interactors |
STRINGi | 9606.ENSP00000443551 |
Chemistry databases
DrugBanki | DB04695, Farnesyl thiopyrophosphate |
GuidetoPHARMACOLOGYi | 640 |
SwissLipidsi | SLP:000001240 |
PTM databases
iPTMneti | Q03426 |
PhosphoSitePlusi | Q03426 |
Genetic variation databases
BioMutai | MVK |
DMDMi | 417215 |
Proteomic databases
EPDi | Q03426 |
jPOSTi | Q03426 |
MassIVEi | Q03426 |
MaxQBi | Q03426 |
PaxDbi | Q03426 |
PeptideAtlasi | Q03426 |
PRIDEi | Q03426 |
ProteomicsDBi | 58211 |
Protocols and materials databases
Antibodypediai | 2047, 395 antibodies from 32 providers |
DNASUi | 4598 |
Genome annotation databases
Ensembli | ENST00000228510.8; ENSP00000228510.3; ENSG00000110921.14 ENST00000539575.4; ENSP00000443551.2; ENSG00000110921.14 |
GeneIDi | 4598 |
KEGGi | hsa:4598 |
MANE-Selecti | ENST00000228510.8; ENSP00000228510.3; NM_000431.4; NP_000422.1 |
UCSCi | uc009zvk.4, human |
Organism-specific databases
CTDi | 4598 |
DisGeNETi | 4598 |
GeneCardsi | MVK |
HGNCi | HGNC:7530, MVK |
HPAi | ENSG00000110921, Tissue enhanced (liver) |
MalaCardsi | MVK |
MIMi | 175900, phenotype 251170, gene 260920, phenotype 610377, phenotype |
neXtProti | NX_Q03426 |
OpenTargetsi | ENSG00000110921 |
Orphaneti | 79152, Disseminated superficial actinic porokeratosis 343, Hyperimmunoglobulinemia D with periodic fever 29, Mevalonic aciduria 735, Porokeratosis of Mibelli |
PharmGKBi | PA31331 |
VEuPathDBi | HostDB:ENSG00000110921 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1511, Eukaryota |
GeneTreei | ENSGT00950000183187 |
HOGENOMi | CLU_017814_0_1_1 |
InParanoidi | Q03426 |
OMAi | NTVCTYG |
OrthoDBi | 762492at2759 |
PhylomeDBi | Q03426 |
TreeFami | TF313775 |
Enzyme and pathway databases
UniPathwayi | UPA00057;UER00098 |
BRENDAi | 2.7.1.36, 2681 |
PathwayCommonsi | Q03426 |
Reactomei | R-HSA-191273, Cholesterol biosynthesis R-HSA-2426168, Activation of gene expression by SREBF (SREBP) |
SABIO-RKi | Q03426 |
SignaLinki | Q03426 |
Miscellaneous databases
BioGRID-ORCSi | 4598, 619 hits in 1081 CRISPR screens |
ChiTaRSi | MVK, human |
EvolutionaryTracei | Q03426 |
GeneWikii | Mevalonate_kinase |
GenomeRNAii | 4598 |
Pharosi | Q03426, Tchem |
PROi | PR:Q03426 |
RNActi | Q03426, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000110921, Expressed in C1 segment of cervical spinal cord and 232 other tissues |
ExpressionAtlasi | Q03426, baseline and differential |
Genevisiblei | Q03426, HS |
Family and domain databases
Gene3Di | 3.30.230.10, 1 hit 3.30.70.890, 1 hit |
InterProi | View protein in InterPro IPR013750, GHMP_kinase_C_dom IPR036554, GHMP_kinase_C_sf IPR006204, GHMP_kinase_N_dom IPR006203, GHMP_knse_ATP-bd_CS IPR006205, Mev_gal_kin IPR020568, Ribosomal_S5_D2-typ_fold IPR014721, Ribosomal_S5_D2-typ_fold_subgr |
PANTHERi | PTHR43290, PTHR43290, 1 hit |
Pfami | View protein in Pfam PF08544, GHMP_kinases_C, 1 hit PF00288, GHMP_kinases_N, 1 hit |
SUPFAMi | SSF54211, SSF54211, 1 hit SSF55060, SSF55060, 1 hit |
TIGRFAMsi | TIGR00549, mevalon_kin, 1 hit |
PROSITEi | View protein in PROSITE PS00627, GHMP_KINASES_ATP, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | KIME_HUMAN | |
Accessioni | Q03426Primary (citable) accession number: Q03426 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1993 |
Last sequence update: | October 1, 1993 | |
Last modified: | May 25, 2022 | |
This is version 221 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families