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UniProtKB - P53602 (MVD1_HUMAN)

Entry version 173 (02 Dec 2020)
Sequence version 1 (01 Oct 1996)
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Protein

Diphosphomevalonate decarboxylase

Gene

MVD

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 ATP dependent decarboxylation of (R)-5-diphosphomevalonate to form isopentenyl diphosphate (IPP). Functions in the mevalonate (MVA) pathway leading to isopentenyl diphosphate (IPP), a key precursor for the biosynthesis of isoprenoids and sterol synthesis.3 Publications

Caution

Was originally thought to be located in the peroxisome (PubMed:11108725). However, was later shown to be cytosolic (PubMed:14972328).2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 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=7.4 µM for (R)-5-diphosphomevalonate1 Publication
  2. KM=28.9 µM for (S,R)-5-diphosphomevalonate1 Publication
  3. KM=0.69 mM for ATP1 Publication
  4. KM=0.32 mM for ATP1 Publication

    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: cholesterol biosynthesis

    This protein is involved in the pathway cholesterol biosynthesis, which is part of Steroid biosynthesis.Curated
    View all proteins of this organism that are known to be involved in the pathway cholesterol biosynthesis and in Steroid biosynthesis.

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 sitei78(R)-5-diphosphomevalonateBy similarity1
    Binding sitei212(R)-5-diphosphomevalonateBy similarity1

    <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

    Complete GO annotation on QuickGO ...

    GO - Biological processi

    Complete GO annotation on QuickGO ...

    <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 functionLyase
    Biological processCholesterol biosynthesis, Cholesterol metabolism, Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol biosynthesis, Sterol metabolism
    LigandATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    BioCyc Collection of Pathway/Genome Databases

    More...    BioCyci    		MetaCyc:ENSG00000167508-MONOMER

    BRENDA Comprehensive Enzyme Information System

    More...    BRENDAi    		4.1.1.33, 2681

    Pathway Commons web resource for biological pathway data

    More...    PathwayCommonsi    		P53602

    Reactome - a knowledgebase of biological pathways and processes

    More...    Reactomei    		R-HSA-191273, Cholesterol biosynthesis
    R-HSA-2426168, Activation of gene expression by SREBF (SREBP)
    R-HSA-446199, Synthesis of Dolichyl-phosphate

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...    SABIO-RKi    		P53602

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

    More...    UniPathwayi    		UPA00063

    Chemistry databases

    SwissLipids knowledge resource for lipid biology

    More...    SwissLipidsi    		SLP:000001242

    <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%5Fand%5Ftaxonomy%5Fsection">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:
    Diphosphomevalonate decarboxylase (EC:4.1.1.333 Publications)
    Alternative name(s):
    Mevalonate (diphospho)decarboxylase
    Short name:
    MDDase
    Mevalonate pyrophosphate decarboxylase
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:MVD
    Synonyms:MPD1 Publication
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 16

    Organism-specific databases

    Eukaryotic Pathogen and Host Database Resources

    More...    EuPathDBi    		HostDB:ENSG00000167508.10

    Human Gene Nomenclature Database

    More...    HGNCi    		HGNC:7529, MVD

    Online Mendelian Inheritance in Man (OMIM)

    More...    MIMi    		603236, gene

    neXtProt; the human protein knowledge platform

    More...    neXtProti    		NX_P53602

    <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 & Seán O’Donoghue; Source: COMPARTMENTS

    Keywords - Cellular componenti

    Cytoplasm

    <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

    Porokeratosis 7, multiple types (POROK7)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.
    Related information in OMIM
    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_075052101P → R in POROK7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200033380Ensembl.1
    Natural variantiVAR_075053128A → V in POROK7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs776358937Ensembl.1
    Natural variantiVAR_075054161R → L in POROK7; unknown pathological significance. 1 Publication1
    Natural variantiVAR_075055161R → Q in POROK7; 1000-fold diminution in diphosphomevalonate decarboxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs144010349Ensembl.1
    Natural variantiVAR_075056228R → Q in POROK7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs770939767Ensembl.1
    Natural variantiVAR_075057228R → W in POROK7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs776684503Ensembl.1
    Natural variantiVAR_075058249F → S in POROK7. 1 PublicationCorresponds to variant dbSNP:rs761991070EnsemblClinVar.1
    Natural variantiVAR_075059292N → S in POROK7. 1 PublicationCorresponds to variant dbSNP:rs755948940EnsemblClinVar.1
    Natural variantiVAR_075060371Missing in POROK7; unknown pathological significance. 1 Publication1
    Natural variantiVAR_075061376G → R in POROK7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs546127665Ensembl.1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'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>Mutagenesisi17N → A: 15-fold inflation in KM for mevalonate diphosphate. 1 Publication1

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNET

    More...    DisGeNETi    		4597

    MalaCards human disease database

    More...    MalaCardsi    		MVD
    MIMi614714, phenotype

    Open Targets

    More...    OpenTargetsi    		ENSG00000167508

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

    More...    Orphaneti    		79152, Disseminated superficial actinic porokeratosis

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...    PharmGKBi    		PA31330

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...    Pharosi    		P53602, Tchem

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...    ChEMBLi    		CHEMBL4340

    IUPHAR/BPS Guide to PHARMACOLOGY

    More...    GuidetoPHARMACOLOGYi    		642

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...    BioMutai    		MVD

    Domain mapping of disease mutations (DMDM)

    More...    DMDMi    		1706681

    <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 <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
    <p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000870122 – 400Diphosphomevalonate decarboxylaseAdd BLAST399

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
    Modified residuei96PhosphoserineCombined sources1

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...    EPDi    		P53602

    jPOST - Japan Proteome Standard Repository/Database

    More...    jPOSTi    		P53602

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...    MassIVEi    		P53602

    MaxQB - The MaxQuant DataBase

    More...    MaxQBi    		P53602

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

    More...    PaxDbi    		P53602

    PeptideAtlas

    More...    PeptideAtlasi    		P53602

    PRoteomics IDEntifications database

    More...    PRIDEi    		P53602

    ProteomicsDB: a multi-organism proteome resource

    More...    ProteomicsDBi    		56588

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...    iPTMneti    		P53602

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

    More...    PhosphoSitePlusi    		P53602

    <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

    <p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

    Expressed in heart, skeletal muscle, lung, liver, brain, pancreas, kidney and placenta.1 Publication

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...    Bgeei    		ENSG00000167508, Expressed in right adrenal gland cortex and 150 other tissues

    ExpressionAtlas, Differential and Baseline Expression

    More...    ExpressionAtlasi    		P53602, baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...    Genevisiblei    		P53602, HS

    Organism-specific databases

    Human Protein Atlas

    More...    HPAi    		ENSG00000167508, Low tissue specificity

    <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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    Homodimer.

    1 Publication

    GO - Molecular functioni

    Complete GO annotation on QuickGO ...

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGRID)

    More...    BioGRIDi    		110682, 40 interactors

    Protein interaction database and analysis system

    More...    IntActi    		P53602, 10 interactors

    STRING: functional protein association networks

    More...    STRINGi    		9606.ENSP00000301012

    Chemistry databases

    BindingDB database of measured binding affinities

    More...    BindingDBi    		P53602

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...    RNActi    		P53602, protein

    <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

    1400
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

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

    More...    SMRi    		P53602

    Database of comparative protein structure models

    More...    ModBasei    		Search...

    Protein Data Bank in Europe - Knowledge Base

    More...    PDBe-KBi    		Search...

    Miscellaneous databases

    Relative evolutionary importance of amino acids within a protein sequence

    More...    EvolutionaryTracei    		P53602

    <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

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni23 – 26(R)-5-diphosphomevalonate bindingBy similarity4
    Regioni156 – 161(R)-5-diphosphomevalonate bindingBy similarity6

    <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

    Belongs to the diphosphomevalonate decarboxylase family.Curated

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...    eggNOGi    		KOG2833, Eukaryota

    Ensembl GeneTree

    More...    GeneTreei    		ENSGT00390000015359

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...    HOGENOMi    		CLU_040369_4_4_1

    InParanoid: Eukaryotic Ortholog Groups

    More...    InParanoidi    		P53602

    Identification of Orthologs from Complete Genome Data

    More...    OMAi    		LTLHAMM

    Database of Orthologous Groups

    More...    OrthoDBi    		1065019at2759

    Database for complete collections of gene phylogenies

    More...    PhylomeDBi    		P53602

    TreeFam database of animal gene trees

    More...    TreeFami    		TF105952

    Family and domain databases

    Gene3D Structural and Functional Annotation of Protein Families

    More...    Gene3Di    		3.30.230.10, 1 hit
    3.30.70.890, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...    InterProi    		View protein in InterPro
    IPR036554, GHMP_kinase_C_sf
    IPR006204, GHMP_kinase_N_dom
    IPR005935, Mev_decarb
    IPR029765, Mev_diP_decarb
    IPR041431, Mvd1_C
    IPR020568, Ribosomal_S5_D2-typ_fold
    IPR014721, Ribosomal_S5_D2-typ_fold_subgr

    Pfam protein domain database

    More...    Pfami    		View protein in Pfam
    PF00288, GHMP_kinases_N, 1 hit
    PF18376, MDD_C, 1 hit

    PIRSF; a whole-protein classification database

    More...    PIRSFi    		PIRSF015950, Mev_P_decrbx, 1 hit

    Superfamily database of structural and functional annotation

    More...    SUPFAMi    		SSF54211, SSF54211, 1 hit
    SSF55060, SSF55060, 1 hit

    TIGRFAMs; a protein family database

    More...    TIGRFAMsi    		TIGR01240, mevDPdecarb, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

    P53602-1 [UniParc]FASTAAdd to basket
    « Hide
            10         20         30         40         50
    MASEKPLAAV TCTAPVNIAV IKYWGKRDEE LVLPINSSLS VTLHQDQLKT 
            60         70         80         90        100
    TTTAVISKDF TEDRIWLNGR EEDVGQPRLQ ACLREIRCLA RKRRNSRDGD 
           110        120        130        140        150
    PLPSSLSCKV HVASVNNFPT AAGLASSAAG YACLAYTLAR VYGVESDLSE 
           160        170        180        190        200
    VARRGSGSAC RSLYGGFVEW QMGEQADGKD SIARQVAPES HWPELRVLIL 
           210        220        230        240        250
    VVSAEKKLTG STVGMRASVE TSPLLRFRAE SVVPARMAEM ARCIRERDFP 
           260        270        280        290        300
    SFAQLTMKDS NQFHATCLDT FPPISYLNAI SWRIIHLVHR FNAHHGDTKV 
           310        320        330        340        350
    AYTFDAGPNA VIFTLDDTVA EFVAAVWHGF PPGSNGDTFL KGLQVRPAPL 
           360        370        380        390        400
    SAELQAALAM EPTPGGVKYI IVTQVGPGPQ ILDDPCAHLL GPDGLPKPAA
    Length:400
    Mass (Da):43,405
    Last modified:October 1, 1996 - 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:i3FD4741BCC4B68D8
    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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    		Gene namesLengthAnnotation
    H3BP35H3BP35_HUMAN
    Diphosphomevalonate decarboxylase
    MVD
    		271Annotation 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>
    H3BQ47H3BQ47_HUMAN
    Diphosphomevalonate decarboxylase
    MVD
    		91Annotation 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>
    H3BVC4H3BVC4_HUMAN
    Diphosphomevalonate decarboxylase
    MVD
    		51Annotation 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>
    H3BRZ1H3BRZ1_HUMAN
    Diphosphomevalonate decarboxylase
    MVD
    		41Annotation 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>

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_075052101P → R in POROK7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200033380Ensembl.1
    Natural variantiVAR_075053128A → V in POROK7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs776358937Ensembl.1
    Natural variantiVAR_075054161R → L in POROK7; unknown pathological significance. 1 Publication1
    Natural variantiVAR_075055161R → Q in POROK7; 1000-fold diminution in diphosphomevalonate decarboxylase activity. 2 PublicationsCorresponds to variant dbSNP:rs144010349Ensembl.1
    Natural variantiVAR_075056228R → Q in POROK7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs770939767Ensembl.1
    Natural variantiVAR_075057228R → W in POROK7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs776684503Ensembl.1
    Natural variantiVAR_075058249F → S in POROK7. 1 PublicationCorresponds to variant dbSNP:rs761991070EnsemblClinVar.1
    Natural variantiVAR_051605278N → H. Corresponds to variant dbSNP:rs34519538Ensembl.1
    Natural variantiVAR_075059292N → S in POROK7. 1 PublicationCorresponds to variant dbSNP:rs755948940EnsemblClinVar.1
    Natural variantiVAR_075060371Missing in POROK7; unknown pathological significance. 1 Publication1
    Natural variantiVAR_075061376G → R in POROK7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs546127665Ensembl.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
    		U49260 mRNA Translation: AAC50440.1
    BT006930 mRNA Translation: AAP35576.1
    CH471184 Genomic DNA Translation: EAW66792.1
    BC000011 mRNA Translation: AAH00011.1

    The Consensus CDS (CCDS) project

    More...    CCDSi    		CCDS10968.1

    NCBI Reference Sequences

    More...    RefSeqi    		NP_002452.1, NM_002461.2

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...    Ensembli    		ENST00000301012; ENSP00000301012; ENSG00000167508

    Database of genes from NCBI RefSeq genomes

    More...    GeneIDi    		4597

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...    KEGGi    		hsa:4597

    UCSC genome browser

    More...    UCSCi    		uc002flg.2, 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

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    		U49260 mRNA Translation: AAC50440.1
    BT006930 mRNA Translation: AAP35576.1
    CH471184 Genomic DNA Translation: EAW66792.1
    BC000011 mRNA Translation: AAH00011.1
    CCDSiCCDS10968.1
    RefSeqiNP_002452.1, NM_002461.2

    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
    3D4JX-ray2.40A/B1-400[»]
    SMRiP53602
    ModBaseiSearch...
    PDBe-KBiSearch...

    Protein-protein interaction databases

    BioGRIDi110682, 40 interactors
    IntActiP53602, 10 interactors
    STRINGi9606.ENSP00000301012

    Chemistry databases

    BindingDBiP53602
    ChEMBLiCHEMBL4340
    GuidetoPHARMACOLOGYi642
    SwissLipidsiSLP:000001242

    PTM databases

    iPTMnetiP53602
    PhosphoSitePlusiP53602

    Polymorphism and mutation databases

    BioMutaiMVD
    DMDMi1706681

    Proteomic databases

    EPDiP53602
    jPOSTiP53602
    MassIVEiP53602
    MaxQBiP53602
    PaxDbiP53602
    PeptideAtlasiP53602
    PRIDEiP53602
    ProteomicsDBi56588

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

    More...    Antibodypediai    		30739, 189 antibodies

    The DNASU plasmid repository

    More...    DNASUi    		4597

    Genome annotation databases

    EnsembliENST00000301012; ENSP00000301012; ENSG00000167508
    GeneIDi4597
    KEGGihsa:4597
    UCSCiuc002flg.2, human

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...    CTDi    		4597
    DisGeNETi4597
    EuPathDBiHostDB:ENSG00000167508.10

    GeneCards: human genes, protein and diseases

    More...    GeneCardsi    		MVD
    HGNCiHGNC:7529, MVD
    HPAiENSG00000167508, Low tissue specificity
    MalaCardsiMVD
    MIMi603236, gene
    614714, phenotype
    neXtProtiNX_P53602
    OpenTargetsiENSG00000167508
    Orphaneti79152, Disseminated superficial actinic porokeratosis
    PharmGKBiPA31330

    GenAtlas: human gene database

    More...    GenAtlasi    		Search...

    Phylogenomic databases

    eggNOGiKOG2833, Eukaryota
    GeneTreeiENSGT00390000015359
    HOGENOMiCLU_040369_4_4_1
    InParanoidiP53602
    OMAiLTLHAMM
    OrthoDBi1065019at2759
    PhylomeDBiP53602
    TreeFamiTF105952

    Enzyme and pathway databases

    UniPathwayiUPA00063
    BioCyciMetaCyc:ENSG00000167508-MONOMER
    BRENDAi4.1.1.33, 2681
    PathwayCommonsiP53602
    ReactomeiR-HSA-191273, Cholesterol biosynthesis
    R-HSA-2426168, Activation of gene expression by SREBF (SREBP)
    R-HSA-446199, Synthesis of Dolichyl-phosphate
    SABIO-RKiP53602

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...    BioGRID-ORCSi    		4597, 448 hits in 845 CRISPR screens

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

    More...    ChiTaRSi    		MVD, human
    EvolutionaryTraceiP53602

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

    More...    GenomeRNAii    		4597
    PharosiP53602, Tchem

    Protein Ontology

    More...    PROi    		PR:P53602
    RNActiP53602, protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...    SOURCEi    		Search...

    Gene expression databases

    BgeeiENSG00000167508, Expressed in right adrenal gland cortex and 150 other tissues
    ExpressionAtlasiP53602, baseline and differential
    GenevisibleiP53602, HS

    Family and domain databases

    Gene3Di3.30.230.10, 1 hit
    3.30.70.890, 1 hit
    InterProiView protein in InterPro
    IPR036554, GHMP_kinase_C_sf
    IPR006204, GHMP_kinase_N_dom
    IPR005935, Mev_decarb
    IPR029765, Mev_diP_decarb
    IPR041431, Mvd1_C
    IPR020568, Ribosomal_S5_D2-typ_fold
    IPR014721, Ribosomal_S5_D2-typ_fold_subgr
    PfamiView protein in Pfam
    PF00288, GHMP_kinases_N, 1 hit
    PF18376, MDD_C, 1 hit
    PIRSFiPIRSF015950, Mev_P_decrbx, 1 hit
    SUPFAMiSSF54211, SSF54211, 1 hit
    SSF55060, SSF55060, 1 hit
    TIGRFAMsiTIGR01240, mevDPdecarb, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...    ProtoNeti    		Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...    MobiDBi    		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 nameiMVD1_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: P53602
    Secondary accession number(s): Q53Y65
    <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%5Fand%5Fisoforms">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, 1996
    Last sequence update: October 1, 1996
    Last modified: December 2, 2020
    This is version 173 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, Reference proteome

    Documents

    1. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    4. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    5. SIMILARITY comments
      Index of protein domains and families
    6. Human chromosome 16
      Human chromosome 16: entries, gene names and cross-references to MIM
    7. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
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