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Protein

Mevalonate kinase

Gene

MVK

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May be a regulatory site in cholesterol biosynthetic pathway.

Catalytic activityi

ATP + (R)-mevalonate = ADP + (R)-5-phosphomevalonate.

Enzyme regulationi

Farnesyl- and geranyl-pyrophosphates are competitive inhibitors.

Pathwayi: isopentenyl diphosphate biosynthesis via mevalonate pathway

This protein is involved in step 1 of the subpathway that synthesizes isopentenyl diphosphate from (R)-mevalonate.
Proteins known to be involved in the 3 steps of the subpathway in this organism are:
  1. Mevalonate kinase (MVK), Mevalonate kinase (MVK), Mevalonate kinase (MVK), Mevalonate kinase, Mevalonate kinase
  2. Phosphomevalonate kinase (PMVK)
  3. no protein annotated in this organism
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 keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei55 – 551ATPBy similarity
Binding sitei135 – 1351ATPBy similarity
Active sitei204 – 2041Proton acceptorBy similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi138 – 14811ATPBy similarityAdd
BLAST

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • identical protein binding Source: IntAct
  • mevalonate kinase activity Source: UniProtKB

GO - Biological processi

  • cholesterol biosynthetic process Source: UniProtKB
  • isopentenyl diphosphate biosynthetic process, mevalonate pathway Source: UniProtKB-UniPathway
  • isoprenoid biosynthetic process Source: UniProtKB
  • negative regulation of inflammatory response Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Kinase, Transferase

Keywords - Biological processi

Cholesterol biosynthesis, Cholesterol metabolism, Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol biosynthesis, Sterol metabolism

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000110921-MONOMER.
BRENDAi2.7.1.36. 2681.
ReactomeiR-HSA-191273. Cholesterol biosynthesis.
R-HSA-2426168. Activation of gene expression by SREBF (SREBP).
SABIO-RKQ03426.
UniPathwayiUPA00057; UER00098.

Chemistry

SwissLipidsiSLP:000001240.

Names & Taxonomyi

Protein namesi
Recommended name:
Mevalonate kinase (EC:2.7.1.36)
Short name:
MK
Gene namesi
Name:MVK
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:7530. MVK.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: UniProtKB
  • extracellular exosome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Mevalonic aciduria (MEVA)5 Publications
The disease is caused by mutations 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.
See also OMIM:610377
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti20 – 201H → P in HIDS and MEVA. 3 Publications
Corresponds to variant rs104895295 [ dbSNP | Ensembl ].
VAR_004022
Natural varianti243 – 2431T → I in MEVA. 1 Publication
Corresponds to variant rs104895314 [ dbSNP | Ensembl ].
VAR_010964
Natural varianti264 – 2641L → F in MEVA. 2 Publications
Corresponds to variant rs104895315 [ dbSNP | Ensembl ].
VAR_010965
Natural varianti265 – 2651L → P in MEVA. 1 Publication
Corresponds to variant rs104895316 [ dbSNP | Ensembl ].
VAR_010966
Natural varianti268 – 2681I → T in HIDS and MEVA. 6 Publications
Corresponds to variant rs104895304 [ dbSNP | Ensembl ].
VAR_004024
Natural varianti301 – 3011N → T in MEVA; diminished activity. 1 Publication
Corresponds to variant rs28934896 [ dbSNP | Ensembl ].
VAR_004025
Natural varianti310 – 3101V → M in MEVA and HIDS. 3 Publications
Corresponds to variant rs104895319 [ dbSNP | Ensembl ].
VAR_009068
Natural varianti334 – 3341A → T in MEVA. 3 Publications
Corresponds to variant rs104895317 [ dbSNP | Ensembl ].
VAR_004026
Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS)5 Publications
The disease is caused by mutations 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.
See also OMIM:260920
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti20 – 201H → N in HIDS. 1 Publication
Corresponds to variant rs11544299 [ dbSNP | Ensembl ].
VAR_010956
Natural varianti20 – 201H → P in HIDS and MEVA. 3 Publications
Corresponds to variant rs104895295 [ dbSNP | Ensembl ].
VAR_004022
Natural varianti20 – 201H → Q in HIDS. 1 Publication
Corresponds to variant rs104895335 [ dbSNP | Ensembl ].
VAR_029519
Natural varianti39 – 391L → P in HIDS. 2 Publications
Corresponds to variant rs104895296 [ dbSNP | Ensembl ].
VAR_010957
Natural varianti132 – 1321V → I in HIDS. 1 Publication
Corresponds to variant rs104895336 [ dbSNP | Ensembl ].
VAR_029520
Natural varianti135 – 1351S → L in HIDS. 1 Publication
Corresponds to variant rs104895297 [ dbSNP | Ensembl ].
VAR_010959
Natural varianti148 – 1481A → T in HIDS. 2 Publications
Corresponds to variant rs104895298 [ dbSNP | Ensembl ].
VAR_010960
Natural varianti150 – 1501S → L in HIDS. 1 Publication
Corresponds to variant rs747116992 [ dbSNP | Ensembl ].
VAR_010961
Natural varianti167 – 1671P → L in HIDS. 2 Publications
Corresponds to variant rs104895300 [ dbSNP | Ensembl ].
VAR_004023
Natural varianti171 – 1711G → R in HIDS. 1 Publication
Corresponds to variant rs104895337 [ dbSNP | Ensembl ].
VAR_029521
Natural varianti202 – 2021G → R in HIDS and POROK3. 2 Publications
Corresponds to variant rs104895301 [ dbSNP | Ensembl ].
VAR_010962
Natural varianti211 – 2111G → E in HIDS. 1 Publication
Corresponds to variant rs104895325 [ dbSNP | Ensembl ].
VAR_029522
Natural varianti215 – 2151R → Q in HIDS. 2 Publications
Corresponds to variant rs104895303 [ dbSNP | Ensembl ].
VAR_010963
Natural varianti250 – 2501V → I in HIDS. 1 Publication
Corresponds to variant rs104895339 [ dbSNP | Ensembl ].
VAR_029523
Natural varianti265 – 2651L → R in HIDS. 1 Publication
Corresponds to variant rs104895316 [ dbSNP | Ensembl ].
VAR_029524
Natural varianti268 – 2681I → T in HIDS and MEVA. 6 Publications
Corresponds to variant rs104895304 [ dbSNP | Ensembl ].
VAR_004024
Natural varianti309 – 3091G → S in HIDS. 1 Publication
Corresponds to variant rs104895305 [ dbSNP | Ensembl ].
VAR_010967
Natural varianti310 – 3101V → M in MEVA and HIDS. 3 Publications
Corresponds to variant rs104895319 [ dbSNP | Ensembl ].
VAR_009068
Natural varianti326 – 3261G → R in HIDS. 1 Publication
Corresponds to variant rs104895308 [ dbSNP | Ensembl ].
VAR_010968
Natural varianti376 – 3761G → V in HIDS. 1 Publication
Corresponds to variant rs104895340 [ dbSNP | Ensembl ].
VAR_029527
Natural varianti377 – 3771V → I in HIDS; most frequent mutation. 5 Publications
Corresponds to variant rs28934897 [ dbSNP | Ensembl ].
VAR_004027
Porokeratosis 3, multiple types (POROK3)2 Publications
The disease is caused by mutations 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.
See also OMIM:175900
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 121G → R in POROK3. 1 Publication
VAR_075036
Natural varianti41 – 411L → P in POROK3. 1 Publication
Corresponds to variant rs397514571 [ dbSNP | Ensembl ].
VAR_075037
Natural varianti202 – 2021G → R in HIDS and POROK3. 2 Publications
Corresponds to variant rs104895301 [ dbSNP | Ensembl ].
VAR_010962
Natural varianti255 – 2551L → P in POROK3. 1 Publication
Corresponds to variant rs397514570 [ dbSNP | Ensembl ].
VAR_075038
Natural varianti279 – 2791L → P in POROK3. 1 Publication
VAR_075039
Natural varianti291 – 2911Y → D in POROK3. 1 Publication
VAR_075040
Natural varianti312 – 3121H → R in POROK3. 1 Publication
VAR_075041
Natural varianti365 – 3651F → S in POROK3. 1 Publication
Corresponds to variant rs398122911 [ dbSNP | Ensembl ].
VAR_075042
Natural varianti376 – 3761G → S in POROK3. 1 Publication
VAR_075043

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

MalaCardsiMVK.
MIMi175900. phenotype.
260920. phenotype.
610377. phenotype.
Orphaneti79152. Disseminated superficial actinic porokeratosis.
343. Hyperimmunoglobulinemia D with periodic fever.
29. Mevalonic aciduria.
PharmGKBiPA31331.

Chemistry

GuidetoPHARMACOLOGYi640.

Polymorphism and mutation databases

BioMutaiMVK.
DMDMi417215.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 396396Mevalonate kinasePRO_0000156657Add
BLAST

Proteomic databases

EPDiQ03426.
MaxQBiQ03426.
PaxDbiQ03426.
PeptideAtlasiQ03426.
PRIDEiQ03426.

PTM databases

iPTMnetiQ03426.
PhosphoSiteiQ03426.

Expressioni

Gene expression databases

BgeeiENSG00000110921.
CleanExiHS_MVK.
ExpressionAtlasiQ03426. baseline and differential.
GenevisibleiQ03426. HS.

Organism-specific databases

HPAiHPA016961.

Interactioni

Subunit structurei

Homodimer.

Binary interactionsi

WithEntry#Exp.IntActNotes
itself2EBI-740630,EBI-740630
POT1Q9NUX52EBI-740630,EBI-752420

GO - Molecular functioni

  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi110683. 16 interactions.
IntActiQ03426. 3 interactions.
MINTiMINT-1473671.
STRINGi9606.ENSP00000228510.

Structurei

Secondary structure

1
396
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi4 – 1714Combined sources
Turni19 – 213Combined sources
Helixi22 – 243Combined sources
Beta strandi28 – 4316Combined sources
Beta strandi45 – 528Combined sources
Turni54 – 563Combined sources
Beta strandi59 – 635Combined sources
Helixi64 – 696Combined sources
Helixi85 – 9511Combined sources
Helixi103 – 11917Combined sources
Beta strandi122 – 1254Combined sources
Beta strandi129 – 1379Combined sources
Beta strandi141 – 1433Combined sources
Helixi145 – 16016Combined sources
Turni167 – 1715Combined sources
Beta strandi173 – 1753Combined sources
Helixi179 – 19618Combined sources
Beta strandi197 – 1993Combined sources
Helixi203 – 2108Combined sources
Beta strandi212 – 2165Combined sources
Beta strandi221 – 2233Combined sources
Beta strandi230 – 2367Combined sources
Helixi243 – 25614Combined sources
Helixi258 – 28326Combined sources
Helixi288 – 30720Combined sources
Helixi313 – 32311Combined sources
Turni324 – 3263Combined sources
Beta strandi328 – 3314Combined sources
Beta strandi336 – 3438Combined sources
Helixi350 – 36112Combined sources
Turni362 – 3643Combined sources
Beta strandi366 – 3738Combined sources
Beta strandi377 – 3804Combined sources
Helixi387 – 3926Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2R3VX-ray2.50A/B/C/D1-396[»]
ProteinModelPortaliQ03426.
SMRiQ03426. Positions 2-395.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ03426.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1511. Eukaryota.
COG1577. LUCA.
GeneTreeiENSGT00390000011860.
HOVERGENiHBG000402.
InParanoidiQ03426.
KOiK00869.
OMAiNRWTKED.
OrthoDBiEOG091G05QV.
PhylomeDBiQ03426.
TreeFamiTF313775.

Family and domain databases

Gene3Di3.30.230.10. 1 hit.
3.30.70.890. 1 hit.
InterProiIPR013750. GHMP_kinase_C_dom.
IPR006204. GHMP_kinase_N_dom.
IPR006203. GHMP_knse_ATP-bd_CS.
IPR006205. Mev_gal_kin.
IPR006206. Mevalonate/galactokinase.
IPR020568. Ribosomal_S5_D2-typ_fold.
IPR014721. Ribosomal_S5_D2-typ_fold_subgr.
[Graphical view]
PANTHERiPTHR10457. PTHR10457. 1 hit.
PTHR10457:SF4. PTHR10457:SF4. 1 hit.
PfamiPF08544. GHMP_kinases_C. 1 hit.
PF00288. GHMP_kinases_N. 1 hit.
[Graphical view]
PRINTSiPR00959. MEVGALKINASE.
SUPFAMiSSF54211. SSF54211. 1 hit.
SSF55060. SSF55060. 1 hit.
TIGRFAMsiTIGR00549. mevalon_kin. 1 hit.
PROSITEiPS00627. GHMP_KINASES_ATP. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q03426-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:396
Mass (Da):42,451
Last modified:October 1, 1993 - v1
Checksum:iC8F6B629B58CD229
GO

Sequence cautioni

The sequence CAA53059 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 121G → R in POROK3. 1 Publication
VAR_075036
Natural varianti20 – 201H → N in HIDS. 1 Publication
Corresponds to variant rs11544299 [ dbSNP | Ensembl ].
VAR_010956
Natural varianti20 – 201H → P in HIDS and MEVA. 3 Publications
Corresponds to variant rs104895295 [ dbSNP | Ensembl ].
VAR_004022
Natural varianti20 – 201H → Q in HIDS. 1 Publication
Corresponds to variant rs104895335 [ dbSNP | Ensembl ].
VAR_029519
Natural varianti39 – 391L → P in HIDS. 2 Publications
Corresponds to variant rs104895296 [ dbSNP | Ensembl ].
VAR_010957
Natural varianti41 – 411L → P in POROK3. 1 Publication
Corresponds to variant rs397514571 [ dbSNP | Ensembl ].
VAR_075037
Natural varianti52 – 521S → N.2 Publications
Corresponds to variant rs7957619 [ dbSNP | Ensembl ].
VAR_010958
Natural varianti132 – 1321V → I in HIDS. 1 Publication
Corresponds to variant rs104895336 [ dbSNP | Ensembl ].
VAR_029520
Natural varianti135 – 1351S → L in HIDS. 1 Publication
Corresponds to variant rs104895297 [ dbSNP | Ensembl ].
VAR_010959
Natural varianti148 – 1481A → T in HIDS. 2 Publications
Corresponds to variant rs104895298 [ dbSNP | Ensembl ].
VAR_010960
Natural varianti150 – 1501S → L in HIDS. 1 Publication
Corresponds to variant rs747116992 [ dbSNP | Ensembl ].
VAR_010961
Natural varianti167 – 1671P → L in HIDS. 2 Publications
Corresponds to variant rs104895300 [ dbSNP | Ensembl ].
VAR_004023
Natural varianti171 – 1711G → R in HIDS. 1 Publication
Corresponds to variant rs104895337 [ dbSNP | Ensembl ].
VAR_029521
Natural varianti202 – 2021G → R in HIDS and POROK3. 2 Publications
Corresponds to variant rs104895301 [ dbSNP | Ensembl ].
VAR_010962
Natural varianti211 – 2111G → E in HIDS. 1 Publication
Corresponds to variant rs104895325 [ dbSNP | Ensembl ].
VAR_029522
Natural varianti215 – 2151R → Q in HIDS. 2 Publications
Corresponds to variant rs104895303 [ dbSNP | Ensembl ].
VAR_010963
Natural varianti243 – 2431T → I in MEVA. 1 Publication
Corresponds to variant rs104895314 [ dbSNP | Ensembl ].
VAR_010964
Natural varianti250 – 2501V → I in HIDS. 1 Publication
Corresponds to variant rs104895339 [ dbSNP | Ensembl ].
VAR_029523
Natural varianti255 – 2551L → P in POROK3. 1 Publication
Corresponds to variant rs397514570 [ dbSNP | Ensembl ].
VAR_075038
Natural varianti264 – 2641L → F in MEVA. 2 Publications
Corresponds to variant rs104895315 [ dbSNP | Ensembl ].
VAR_010965
Natural varianti265 – 2651L → P in MEVA. 1 Publication
Corresponds to variant rs104895316 [ dbSNP | Ensembl ].
VAR_010966
Natural varianti265 – 2651L → R in HIDS. 1 Publication
Corresponds to variant rs104895316 [ dbSNP | Ensembl ].
VAR_029524
Natural varianti268 – 2681I → T in HIDS and MEVA. 6 Publications
Corresponds to variant rs104895304 [ dbSNP | Ensembl ].
VAR_004024
Natural varianti279 – 2791L → P in POROK3. 1 Publication
VAR_075039
Natural varianti291 – 2911Y → D in POROK3. 1 Publication
VAR_075040
Natural varianti301 – 3011N → T in MEVA; diminished activity. 1 Publication
Corresponds to variant rs28934896 [ dbSNP | Ensembl ].
VAR_004025
Natural varianti309 – 3091G → S in HIDS. 1 Publication
Corresponds to variant rs104895305 [ dbSNP | Ensembl ].
VAR_010967
Natural varianti310 – 3101V → M in MEVA and HIDS. 3 Publications
Corresponds to variant rs104895319 [ dbSNP | Ensembl ].
VAR_009068
Natural varianti312 – 3121H → R in POROK3. 1 Publication
VAR_075041
Natural varianti326 – 3261G → R in HIDS. 1 Publication
Corresponds to variant rs104895308 [ dbSNP | Ensembl ].
VAR_010968
Natural varianti334 – 3341A → T in MEVA. 3 Publications
Corresponds to variant rs104895317 [ dbSNP | Ensembl ].
VAR_004026
Natural varianti335 – 3351G → S.
Corresponds to variant rs11614976 [ dbSNP | Ensembl ].
VAR_029525
Natural varianti356 – 3561T → M.1 Publication
Corresponds to variant rs104895342 [ dbSNP | Ensembl ].
VAR_029526
Natural varianti365 – 3651F → S in POROK3. 1 Publication
Corresponds to variant rs398122911 [ dbSNP | Ensembl ].
VAR_075042
Natural varianti376 – 3761G → S in POROK3. 1 Publication
VAR_075043
Natural varianti376 – 3761G → V in HIDS. 1 Publication
Corresponds to variant rs104895340 [ dbSNP | Ensembl ].
VAR_029527
Natural varianti377 – 3771V → I in HIDS; most frequent mutation. 5 Publications
Corresponds to variant rs28934897 [ dbSNP | Ensembl ].
VAR_004027

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.
CCDSiCCDS9132.1.
PIRiA42919.
RefSeqiNP_000422.1. NM_000431.3.
NP_001107657.1. NM_001114185.2.
NP_001288111.1. NM_001301182.1.
XP_011536674.2. XM_011538372.2.
UniGeneiHs.130607.

Genome annotation databases

EnsembliENST00000228510; ENSP00000228510; ENSG00000110921.
ENST00000539575; ENSP00000443551; ENSG00000110921.
GeneIDi4598.
KEGGihsa:4598.
UCSCiuc009zvk.4. human.

Keywords - Coding sequence diversityi

Polymorphism

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.
CCDSiCCDS9132.1.
PIRiA42919.
RefSeqiNP_000422.1. NM_000431.3.
NP_001107657.1. NM_001114185.2.
NP_001288111.1. NM_001301182.1.
XP_011536674.2. XM_011538372.2.
UniGeneiHs.130607.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2R3VX-ray2.50A/B/C/D1-396[»]
ProteinModelPortaliQ03426.
SMRiQ03426. Positions 2-395.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110683. 16 interactions.
IntActiQ03426. 3 interactions.
MINTiMINT-1473671.
STRINGi9606.ENSP00000228510.

Chemistry

GuidetoPHARMACOLOGYi640.
SwissLipidsiSLP:000001240.

PTM databases

iPTMnetiQ03426.
PhosphoSiteiQ03426.

Polymorphism and mutation databases

BioMutaiMVK.
DMDMi417215.

Proteomic databases

EPDiQ03426.
MaxQBiQ03426.
PaxDbiQ03426.
PeptideAtlasiQ03426.
PRIDEiQ03426.

Protocols and materials databases

DNASUi4598.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000228510; ENSP00000228510; ENSG00000110921.
ENST00000539575; ENSP00000443551; ENSG00000110921.
GeneIDi4598.
KEGGihsa:4598.
UCSCiuc009zvk.4. human.

Organism-specific databases

CTDi4598.
GeneCardsiMVK.
HGNCiHGNC:7530. MVK.
HPAiHPA016961.
MalaCardsiMVK.
MIMi175900. phenotype.
251170. gene.
260920. phenotype.
610377. phenotype.
neXtProtiNX_Q03426.
Orphaneti79152. Disseminated superficial actinic porokeratosis.
343. Hyperimmunoglobulinemia D with periodic fever.
29. Mevalonic aciduria.
PharmGKBiPA31331.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1511. Eukaryota.
COG1577. LUCA.
GeneTreeiENSGT00390000011860.
HOVERGENiHBG000402.
InParanoidiQ03426.
KOiK00869.
OMAiNRWTKED.
OrthoDBiEOG091G05QV.
PhylomeDBiQ03426.
TreeFamiTF313775.

Enzyme and pathway databases

UniPathwayiUPA00057; UER00098.
BioCyciMetaCyc:ENSG00000110921-MONOMER.
BRENDAi2.7.1.36. 2681.
ReactomeiR-HSA-191273. Cholesterol biosynthesis.
R-HSA-2426168. Activation of gene expression by SREBF (SREBP).
SABIO-RKQ03426.

Miscellaneous databases

ChiTaRSiMVK. human.
EvolutionaryTraceiQ03426.
GeneWikiiMevalonate_kinase.
GenomeRNAii4598.
PROiQ03426.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000110921.
CleanExiHS_MVK.
ExpressionAtlasiQ03426. baseline and differential.
GenevisibleiQ03426. HS.

Family and domain databases

Gene3Di3.30.230.10. 1 hit.
3.30.70.890. 1 hit.
InterProiIPR013750. GHMP_kinase_C_dom.
IPR006204. GHMP_kinase_N_dom.
IPR006203. GHMP_knse_ATP-bd_CS.
IPR006205. Mev_gal_kin.
IPR006206. Mevalonate/galactokinase.
IPR020568. Ribosomal_S5_D2-typ_fold.
IPR014721. Ribosomal_S5_D2-typ_fold_subgr.
[Graphical view]
PANTHERiPTHR10457. PTHR10457. 1 hit.
PTHR10457:SF4. PTHR10457:SF4. 1 hit.
PfamiPF08544. GHMP_kinases_C. 1 hit.
PF00288. GHMP_kinases_N. 1 hit.
[Graphical view]
PRINTSiPR00959. MEVGALKINASE.
SUPFAMiSSF54211. SSF54211. 1 hit.
SSF55060. SSF55060. 1 hit.
TIGRFAMsiTIGR00549. mevalon_kin. 1 hit.
PROSITEiPS00627. GHMP_KINASES_ATP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiKIME_HUMAN
AccessioniPrimary (citable) accession number: Q03426
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: October 1, 1993
Last modified: September 7, 2016
This is version 181 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.