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Protein

Mevalonate kinase

Gene

MVK

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes the phosphorylation of mevalonate to mevalonate 5-phosphate, a key step in isoprenoid and cholesterol biosynthesis (PubMed:9325256, PubMed:18302342).2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+By similarity

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Farnesyl pyrophosphate is a competitive inhibitor.1 Publication

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=74 µM for ATP1 Publication
  2. KM=178 µM for ATP1 Publication
  3. KM=24 µM for (R)-mevalonate1 Publication
  4. KM=40 µM for (R)-mevalonate1 Publication
  1. Vmax=37 µmol/min/mg enzyme with (R)-mevalonate as substrate1 Publication
  2. Vmax=28 µmol/min/mg enzyme with (R)-mevalonate as substrate1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>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, Mevalonate kinase (MVK)
  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)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei13ATPBy similarity1
Binding sitei55ATPBy similarity1
Binding sitei135ATPBy similarity1
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi146MagnesiumBy similarity1
Metal bindingi193MagnesiumBy similarity1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei204Proton acceptor1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi140 – 146ATPBy similarity7

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionKinase, Transferase
Biological processCholesterol biosynthesis, Cholesterol metabolism, Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol biosynthesis, Sterol metabolism
LigandATP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:ENSG00000110921-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
2.7.1.36 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-191273 Cholesterol biosynthesis
R-HSA-2426168 Activation of gene expression by SREBF (SREBP)

SABIO-RK: Biochemical Reaction Kinetics Database

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SABIO-RKi
Q03426

UniPathway: a resource for the exploration and annotation of metabolic pathways

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UniPathwayi
UPA00057;UER00098

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000001240

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Mevalonate kinaseCurated (EC:2.7.1.362 Publications)
Short name:
MK
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MVKImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000110921.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7530 MVK

Online Mendelian Inheritance in Man (OMIM)

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MIMi
251170 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q03426

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Peroxisome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010964243T → I in MEVA. 1 PublicationCorresponds to variant dbSNP:rs104895314EnsemblClinVar.1
Natural variantiVAR_010965264L → F in MEVA. 2 PublicationsCorresponds to variant dbSNP:rs104895315EnsemblClinVar.1
Natural variantiVAR_010966265L → P in MEVA. 1 PublicationCorresponds to variant dbSNP:rs104895316EnsemblClinVar.1
Natural variantiVAR_004025301N → T in MEVA; diminished activity. 1 PublicationCorresponds to variant dbSNP:rs121917789EnsemblClinVar.1
Natural variantiVAR_004026334A → T in MEVA. 3 PublicationsCorresponds to variant dbSNP:rs104895317EnsemblClinVar.1
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_01095620H → N in HIDS. 1 PublicationCorresponds to variant dbSNP:rs11544299Ensembl.1
Natural variantiVAR_02951920H → Q in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895335EnsemblClinVar.1
Natural variantiVAR_01095739L → P in HIDS. 2 PublicationsCorresponds to variant dbSNP:rs104895296EnsemblClinVar.1
Natural variantiVAR_029520132V → I in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895336EnsemblClinVar.1
Natural variantiVAR_010959135S → L in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895297EnsemblClinVar.1
Natural variantiVAR_010960148A → T in HIDS. 2 PublicationsCorresponds to variant dbSNP:rs104895298EnsemblClinVar.1
Natural variantiVAR_010961150S → L in HIDS. 1 PublicationCorresponds to variant dbSNP:rs747116992Ensembl.1
Natural variantiVAR_004023167P → L in HIDS. 2 PublicationsCorresponds to variant dbSNP:rs104895300EnsemblClinVar.1
Natural variantiVAR_029521171G → R in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895337EnsemblClinVar.1
Natural variantiVAR_029522211G → E in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895325EnsemblClinVar.1
Natural variantiVAR_010963215R → Q in HIDS. 2 PublicationsCorresponds to variant dbSNP:rs104895303EnsemblClinVar.1
Natural variantiVAR_029523250V → I in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895339EnsemblClinVar.1
Natural variantiVAR_029524265L → R in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895316EnsemblClinVar.1
Natural variantiVAR_010967309G → S in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895305EnsemblClinVar.1
Natural variantiVAR_010968326G → R in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895308EnsemblClinVar.1
Natural variantiVAR_029527376G → V in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895340EnsemblClinVar.1
Natural variantiVAR_004027377V → 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 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)DescriptionActionsGraphical viewLength
Natural variantiVAR_07503612G → R in POROK3. 1 Publication1
Natural variantiVAR_07503741L → P in POROK3. 1 PublicationCorresponds to variant dbSNP:rs397514571EnsemblClinVar.1
Natural variantiVAR_075038255L → P in POROK3. 1 PublicationCorresponds to variant dbSNP:rs397514570EnsemblClinVar.1
Natural variantiVAR_075039279L → P in POROK3. 1 Publication1
Natural variantiVAR_075040291Y → D in POROK3. 1 Publication1
Natural variantiVAR_075041312H → R in POROK3. 1 Publication1
Natural variantiVAR_075042365F → S in POROK3. 1 PublicationCorresponds to variant dbSNP:rs398122911EnsemblClinVar.1
Natural variantiVAR_075043376G → S in POROK3. 1 PublicationCorresponds to variant dbSNP:rs971159663Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi19E → 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 Publication1
Mutagenesisi56I → A: No effect on kinase activity. Approximately 4- and 5-fold decrease affinities for ATP and mevalonate, respectively. 1 Publication1
Mutagenesisi104T → A: No effect on kinase activity. Approximately 4-fold increase affinity for ATP. Normal affinity for mevalonate. 1 Publication1
Mutagenesisi149Y → A: No effect on kinase activity. Approximately 4- and 8-fold decrease affinities for ATP and mevalonate, respectively. 1 Publication1
Mutagenesisi193E → 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 Publication1
Mutagenesisi196I → A: No effect on kinase activity. Approximately 2- and 3-fold decrease affinities for ATP and mevalonate, respectively. 1 Publication1
Mutagenesisi204D → A: No change in protein stability. Loss of kinase activity. Normal affinities for ATP and mevalonate. 1 Publication1
Mutagenesisi204D → N: No change in protein stability. Loss of kinase activity. Normal affinities for ATP and mevalonate. 1 Publication1
Mutagenesisi296E → Q: No change in protein stability. No effect on kinase activity. 1 Publication1

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
4598

MalaCards human disease database

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MalaCardsi
MVK
MIMi175900 phenotype
260920 phenotype
610377 phenotype

Open Targets

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OpenTargetsi
ENSG00000110921

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
79152 Disseminated superficial actinic porokeratosis
343 Hyperimmunoglobulinemia D with periodic fever
29 Mevalonic aciduria
735 Porokeratosis of Mibelli

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA31331

Chemistry databases

Drug and drug target database

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DrugBanki
DB04695 FARNESYL THIOPYROPHOSPHATE

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
640

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
MVK

Domain mapping of disease mutations (DMDM)

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DMDMi
417215

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001566571 – 396Mevalonate kinaseAdd BLAST396

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q03426

MaxQB - The MaxQuant DataBase

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MaxQBi
Q03426

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q03426

PeptideAtlas

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PeptideAtlasi
Q03426

PRoteomics IDEntifications database

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PRIDEi
Q03426

ProteomicsDB human proteome resource

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ProteomicsDBi
58211

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q03426

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q03426

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000110921 Expressed in 219 organ(s), highest expression level in C1 segment of cervical spinal cord

CleanEx database of gene expression profiles

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CleanExi
HS_MVK

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q03426 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q03426 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA016961

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
110683, 17 interactors

Protein interaction database and analysis system

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IntActi
Q03426, 4 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000228510

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1396
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q03426

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q03426

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q03426

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1511 Eukaryota
COG1577 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000011860

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG000402

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q03426

KEGG Orthology (KO)

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KOi
K00869

Identification of Orthologs from Complete Genome Data

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OMAi
NTVCTYG

Database of Orthologous Groups

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OrthoDBi
EOG091G05QV

Database for complete collections of gene phylogenies

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PhylomeDBi
Q03426

TreeFam database of animal gene trees

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TreeFami
TF313775

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.30.230.10, 1 hit
3.30.70.890, 1 hit

Integrated resource of protein families, domains and functional sites

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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

Pfam protein domain database

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Pfami
View protein in Pfam
PF08544 GHMP_kinases_C, 1 hit
PF00288 GHMP_kinases_N, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF54211 SSF54211, 1 hit
SSF55060 SSF55060, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR00549 mevalon_kin, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00627 GHMP_KINASES_ATP, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
« 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iC8F6B629B58CD229
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H8H2F5H8H2_HUMAN
Mevalonate kinase
MVK
344Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GWC2A0A1B0GWC2_HUMAN
Mevalonate kinase
MVK
346Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GXC0F5GXC0_HUMAN
Mevalonate kinase
MVK
170Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H092F5H092_HUMAN
Mevalonate kinase
MVK
200Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0B4J236A0A0B4J236_HUMAN
Mevalonate kinase (Mevalonic acidur...
MVK hCG_40321
115Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GWF3A0A1B0GWF3_HUMAN
Mevalonate kinase
MVK
150Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H368F5H368_HUMAN
Mevalonate kinase
MVK
117Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H163F5H163_HUMAN
Mevalonate kinase
MVK
83Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PS16A0A1W2PS16_HUMAN
Mevalonate kinase
MVK
117Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07503612G → R in POROK3. 1 Publication1
Natural variantiVAR_01095620H → N in HIDS. 1 PublicationCorresponds to variant dbSNP:rs11544299Ensembl.1
Natural variantiVAR_00402220H → P in HIDS and MEVA. 3 PublicationsCorresponds to variant dbSNP:rs104895295EnsemblClinVar.1
Natural variantiVAR_02951920H → Q in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895335EnsemblClinVar.1
Natural variantiVAR_01095739L → P in HIDS. 2 PublicationsCorresponds to variant dbSNP:rs104895296EnsemblClinVar.1
Natural variantiVAR_07503741L → P in POROK3. 1 PublicationCorresponds to variant dbSNP:rs397514571EnsemblClinVar.1
Natural variantiVAR_01095852S → N2 PublicationsCorresponds to variant dbSNP:rs7957619EnsemblClinVar.1
Natural variantiVAR_029520132V → I in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895336EnsemblClinVar.1
Natural variantiVAR_010959135S → L in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895297EnsemblClinVar.1
Natural variantiVAR_010960148A → T in HIDS. 2 PublicationsCorresponds to variant dbSNP:rs104895298EnsemblClinVar.1
Natural variantiVAR_010961150S → L in HIDS. 1 PublicationCorresponds to variant dbSNP:rs747116992Ensembl.1
Natural variantiVAR_004023167P → L in HIDS. 2 PublicationsCorresponds to variant dbSNP:rs104895300EnsemblClinVar.1
Natural variantiVAR_029521171G → R in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895337EnsemblClinVar.1
Natural variantiVAR_010962202G → R in HIDS and POROK3. 2 PublicationsCorresponds to variant dbSNP:rs104895301EnsemblClinVar.1
Natural variantiVAR_029522211G → E in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895325EnsemblClinVar.1
Natural variantiVAR_010963215R → Q in HIDS. 2 PublicationsCorresponds to variant dbSNP:rs104895303EnsemblClinVar.1
Natural variantiVAR_010964243T → I in MEVA. 1 PublicationCorresponds to variant dbSNP:rs104895314EnsemblClinVar.1
Natural variantiVAR_029523250V → I in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895339EnsemblClinVar.1
Natural variantiVAR_075038255L → P in POROK3. 1 PublicationCorresponds to variant dbSNP:rs397514570EnsemblClinVar.1
Natural variantiVAR_010965264L → F in MEVA. 2 PublicationsCorresponds to variant dbSNP:rs104895315EnsemblClinVar.1
Natural variantiVAR_010966265L → P in MEVA. 1 PublicationCorresponds to variant dbSNP:rs104895316EnsemblClinVar.1
Natural variantiVAR_029524265L → R in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895316EnsemblClinVar.1
Natural variantiVAR_004024268I → T in HIDS and MEVA. 6 PublicationsCorresponds to variant dbSNP:rs104895304EnsemblClinVar.1
Natural variantiVAR_075039279L → P in POROK3. 1 Publication1
Natural variantiVAR_075040291Y → D in POROK3. 1 Publication1
Natural variantiVAR_004025301N → T in MEVA; diminished activity. 1 PublicationCorresponds to variant dbSNP:rs121917789EnsemblClinVar.1
Natural variantiVAR_010967309G → S in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895305EnsemblClinVar.1
Natural variantiVAR_009068310V → M in MEVA and HIDS. 3 PublicationsCorresponds to variant dbSNP:rs104895319EnsemblClinVar.1
Natural variantiVAR_075041312H → R in POROK3. 1 Publication1
Natural variantiVAR_010968326G → R in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895308EnsemblClinVar.1
Natural variantiVAR_004026334A → T in MEVA. 3 PublicationsCorresponds to variant dbSNP:rs104895317EnsemblClinVar.1
Natural variantiVAR_029525335G → S. Corresponds to variant dbSNP:rs11614976Ensembl.1
Natural variantiVAR_029526356T → M1 PublicationCorresponds to variant dbSNP:rs104895342EnsemblClinVar.1
Natural variantiVAR_075042365F → S in POROK3. 1 PublicationCorresponds to variant dbSNP:rs398122911EnsemblClinVar.1
Natural variantiVAR_075043376G → S in POROK3. 1 PublicationCorresponds to variant dbSNP:rs971159663Ensembl.1
Natural variantiVAR_029527376G → V in HIDS. 1 PublicationCorresponds to variant dbSNP:rs104895340EnsemblClinVar.1
Natural variantiVAR_004027377V → I in HIDS; most frequent mutation. 5 PublicationsCorresponds to variant dbSNP:rs28934897EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS9132.1

Protein sequence database of the Protein Information Resource

More...
PIRi
A42919

NCBI Reference Sequences

More...
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

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.130607

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000228510; ENSP00000228510; ENSG00000110921
ENST00000539575; ENSP00000443551; ENSG00000110921

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
4598

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:4598

UCSC genome browser

More...
UCSCi
uc009zvk.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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_016874803.1, XM_017019314.1
UniGeneiHs.130607

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2R3VX-ray2.50A/B/C/D1-396[»]
ProteinModelPortaliQ03426
SMRiQ03426
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110683, 17 interactors
IntActiQ03426, 4 interactors
STRINGi9606.ENSP00000228510

Chemistry databases

DrugBankiDB04695 FARNESYL THIOPYROPHOSPHATE
GuidetoPHARMACOLOGYi640
SwissLipidsiSLP:000001240

PTM databases

iPTMnetiQ03426
PhosphoSitePlusiQ03426

Polymorphism and mutation databases

BioMutaiMVK
DMDMi417215

Proteomic databases

EPDiQ03426
MaxQBiQ03426
PaxDbiQ03426
PeptideAtlasiQ03426
PRIDEiQ03426
ProteomicsDBi58211

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
4598
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4598
DisGeNETi4598
EuPathDBiHostDB:ENSG00000110921.11

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MVK
HGNCiHGNC:7530 MVK
HPAiHPA016961
MalaCardsiMVK
MIMi175900 phenotype
251170 gene
260920 phenotype
610377 phenotype
neXtProtiNX_Q03426
OpenTargetsiENSG00000110921
Orphaneti79152 Disseminated superficial actinic porokeratosis
343 Hyperimmunoglobulinemia D with periodic fever
29 Mevalonic aciduria
735 Porokeratosis of Mibelli
PharmGKBiPA31331

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1511 Eukaryota
COG1577 LUCA
GeneTreeiENSGT00390000011860
HOVERGENiHBG000402
InParanoidiQ03426
KOiK00869
OMAiNTVCTYG
OrthoDBiEOG091G05QV
PhylomeDBiQ03426
TreeFamiTF313775

Enzyme and pathway databases

UniPathwayi
UPA00057;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-RKiQ03426

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
MVK human
EvolutionaryTraceiQ03426

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Mevalonate_kinase

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
4598

Protein Ontology

More...
PROi
PR:Q03426

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000110921 Expressed in 219 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_MVK
ExpressionAtlasiQ03426 baseline and differential
GenevisibleiQ03426 HS

Family and domain databases

Gene3Di3.30.230.10, 1 hit
3.30.70.890, 1 hit
InterProiView 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
PfamiView protein in Pfam
PF08544 GHMP_kinases_C, 1 hit
PF00288 GHMP_kinases_N, 1 hit
SUPFAMiSSF54211 SSF54211, 1 hit
SSF55060 SSF55060, 1 hit
TIGRFAMsiTIGR00549 mevalon_kin, 1 hit
PROSITEiView protein in PROSITE
PS00627 GHMP_KINASES_ATP, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKIME_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q03426
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: October 1, 1993
Last modified: December 5, 2018
This is version 201 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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