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UniProtKB - P11511 (CP19A_HUMAN)

Entry version 206 (13 Feb 2019)
Sequence version 3 (23 Jan 2007)
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Protein

Aromatase

Gene

CYP19A1

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 formation of aromatic C18 estrogens from C19 androgens.

<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

heme

<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=0.46 µM for androstenedione1 Publication

    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 sitei309Substrate1
    Binding sitei374Substrate; via amide nitrogen1
    <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 bindingi437Iron (heme axial ligand)1

    <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

    View the complete GO annotation on QuickGO ...

    GO - Biological processi

    View the 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 functionMonooxygenase, Oxidoreductase
    LigandHeme, Iron, Metal-binding

    Enzyme and pathway databases

    BioCyc Collection of Pathway/Genome Databases

    More...    BioCyci    		MetaCyc:HS06413-MONOMER

    BRENDA Comprehensive Enzyme Information System

    More...    BRENDAi    		1.14.14.14 2681

    Reactome - a knowledgebase of biological pathways and processes

    More...    Reactomei    		R-HSA-193144 Estrogen biosynthesis
    R-HSA-211976 Endogenous sterols
    R-HSA-5579030 Defective CYP19A1 causes Aromatase excess syndrome (AEXS)

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...    SABIO-RKi    		P11511

    SIGNOR Signaling Network Open Resource

    More...    SIGNORi    		P11511

    Chemistry databases

    SwissLipids knowledge resource for lipid biology

    More...    SwissLipidsi    		SLP:000001716

    <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:
    Aromatase (EC:1.14.14.141 Publication)
    Alternative name(s):
    CYPXIX
    Cytochrome P-450AROM
    Cytochrome P450 19A1
    Estrogen synthase
    <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:CYP19A1
    Synonyms:ARO1, CYAR, CYP19
    <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 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_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 15

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...    EuPathDBi    		HostDB:ENSG00000137869.13

    Human Gene Nomenclature Database

    More...    HGNCi    		HGNC:2594 CYP19A1

    Online Mendelian Inheritance in Man (OMIM)

    More...    MIMi    		107910 gene

    neXtProt; the human protein knowledge platform

    More...    neXtProti    		NX_P11511

    <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

    Membrane

    <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

    Aromatase excess syndrome (AEXS)
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionAn autosomal dominant disorder characterized by increased extraglandular aromatization of steroids that presents with heterosexual precocity in males and isosexual precocity in females.
    See also OMIM:139300
    Aromatase deficiency (AROD)4 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA rare disease in which fetal androgens are not converted into estrogens due to placental aromatase deficiency. Thus, pregnant women exhibit a hirsutism, which spontaneously resolves after post-partum. At birth, female babies present with pseudohermaphroditism due to virilization of extern genital organs. In adult females, manifestations include delay of puberty, breast hypoplasia and primary amenorrhoea with multicystic ovaries.
    See also OMIM:613546
    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_072784192R → H in AROD; strongly reduced aromatase activity; 81% reduction of androstenedione metabolism compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs765057534Ensembl.1
    Natural variantiVAR_016962365R → Q in AROD; 0.4% of wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs80051519EnsemblClinVar.1
    Natural variantiVAR_016963375R → C in AROD. 1 PublicationCorresponds to variant dbSNP:rs121434536EnsemblClinVar.1
    Natural variantiVAR_016964435R → C in AROD; 1.1% of wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs121434534EnsemblClinVar.1
    Natural variantiVAR_016965437C → Y in AROD; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs78310315EnsemblClinVar.1

    Keywords - Diseasei

    Disease mutation, Pseudohermaphroditism

    Organism-specific databases

    DisGeNET

    More...    DisGeNETi    		1588

    MalaCards human disease database

    More...    MalaCardsi    		CYP19A1
    MIMi139300 phenotype
    613546 phenotype

    Open Targets

    More...    OpenTargetsi    		ENSG00000137869

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

    More...    Orphaneti    		91 Aromatase deficiency
    178345 Aromatase excess syndrome

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...    PharmGKBi    		PA27091

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...    ChEMBLi    		CHEMBL1978

    Drug and drug target database

    More...    DrugBanki    		DB02342 2-Methoxyestradiol
    DB00357 Aminoglutethimide
    DB01217 Anastrozole
    DB05338 atamestane-plus-toremifene
    DB00443 Betamethasone
    DB04794 Bifonazole
    DB06719 Buserelin
    DB00389 Carbimazole
    DB00269 Chlorotrianisene
    DB00856 Chlorphenesin
    DB00882 Clomifene
    DB00257 Clotrimazole
    DB04839 Cyproterone acetate
    DB01406 Danazol
    DB05804 dehydroepiandrosterone sulfate
    DB01234 Dexamethasone
    DB00255 Diethylstilbestrol
    DB02901 Dihydrotestosterone
    DB00917 Dinoprostone
    DB00858 Drostanolone
    DB01127 Econazole
    DB00974 Edetic Acid
    DB00292 Etomidate
    DB00926 Etretinate
    DB00990 Exemestane
    DB01026 Ketoconazole
    DB01006 Letrozole
    DB01227 Levomethadyl Acetate
    DB00367 Levonorgestrel
    DB00358 Mefloquine
    DB01065 Melatonin
    DB00333 Methadone
    DB06710 Methyltestosterone
    DB01110 Miconazole
    DB05749 MPI-674
    DB08804 Nandrolone decanoate
    DB00984 Nandrolone phenpropionate
    DB00184 Nicotine
    DB09389 Norgestrel
    DB01229 Paclitaxel
    DB00481 Raloxifene
    DB05875 substance P
    DB06147 Sulfathiazole
    DB00675 Tamoxifen
    DB00857 Terbinafine
    DB00894 Testolactone
    DB00624 Testosterone
    DB01007 Tioconazole
    DB00072 Trastuzumab
    DB00197 Troglitazone

    IUPHAR/BPS Guide to PHARMACOLOGY

    More...    GuidetoPHARMACOLOGYi    		1362

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...    BioMutai    		CYP19A1

    Domain mapping of disease mutations (DMDM)

    More...    DMDMi    		117293

    <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_00000519551 – 503AromataseAdd BLAST503

    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

    Phosphorylated in vitro by PKA and PKG/PRKG1. These phosphorylations inhibit the catalytic activity as measured by estrone synthesis from androstenedione (36% decrease for PKA and 30% for PKG/PRKG1).1 Publication

    Proteomic databases

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

    More...    PaxDbi    		P11511

    PeptideAtlas

    More...    PeptideAtlasi    		P11511

    PRoteomics IDEntifications database

    More...    PRIDEi    		P11511

    ProteomicsDB human proteome resource

    More...    ProteomicsDBi    		52787

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...    iPTMneti    		P11511

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

    More...    PhosphoSitePlusi    		P11511

    <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

    Widely expressed, including in adult and fetal brain, placenta, skin fibroblasts, adipose tissue and gonads.4 Publications

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...    Bgeei    		ENSG00000137869 Expressed in 91 organ(s), highest expression level in chorionic villus

    ExpressionAtlas, Differential and Baseline Expression

    More...    ExpressionAtlasi    		P11511 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...    Genevisiblei    		P11511 HS

    Organism-specific databases

    Human Protein Atlas

    More...    HPAi    		CAB000355
    HPA051194

    <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

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...    BioGridi    		107960, 7 interactors

    Protein interaction database and analysis system

    More...    IntActi    		P11511, 1 interactor

    Molecular INTeraction database

    More...    MINTi    		P11511

    STRING: functional protein association networks

    More...    STRINGi    		9606.ENSP00000260433

    Chemistry databases

    BindingDB database of measured binding affinities

    More...    BindingDBi    		P11511

    <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

    1503
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    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
    1TQAmodel-A53-495[»]
    3EQMX-ray2.90A1-503[»]
    3S79X-ray2.75A1-503[»]
    3S7SX-ray3.21A1-503[»]
    4GL5X-ray3.48A1-503[»]
    4GL7X-ray3.90A1-503[»]
    4KQ8X-ray3.29A45-503[»]
    5JKVX-ray2.75A1-503[»]
    5JKWX-ray3.00A1-503[»]
    5JL6X-ray3.00A1-503[»]
    5JL7X-ray3.10A1-503[»]
    5JL9X-ray3.10A1-503[»]

    Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

    More...    ProteinModelPortali    		P11511

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

    More...    SMRi    		P11511

    Database of comparative protein structure models

    More...    ModBasei    		Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...    MobiDBi    		Search...

    Miscellaneous databases

    Relative evolutionary importance of amino acids within a protein sequence

    More...    EvolutionaryTracei    		P11511

    <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

    Belongs to the cytochrome P450 family.Curated

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...    eggNOGi    		KOG0157 Eukaryota
    COG2124 LUCA

    Ensembl GeneTree

    More...    GeneTreei    		ENSGT00840000129915

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...    HOGENOMi    		HOG000111912

    The HOVERGEN Database of Homologous Vertebrate Genes

    More...    HOVERGENi    		HBG050750

    InParanoid: Eukaryotic Ortholog Groups

    More...    InParanoidi    		P11511

    KEGG Orthology (KO)

    More...    KOi    		K07434

    Identification of Orthologs from Complete Genome Data

    More...    OMAi    		MRRIMLD

    Database of Orthologous Groups

    More...    OrthoDBi    		101221at2759

    Database for complete collections of gene phylogenies

    More...    PhylomeDBi    		P11511

    TreeFam database of animal gene trees

    More...    TreeFami    		TF352039

    Family and domain databases

    Gene3D Structural and Functional Annotation of Protein Families

    More...    Gene3Di    		1.10.630.10, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...    InterProi    		View protein in InterPro
    IPR001128 Cyt_P450
    IPR017972 Cyt_P450_CS
    IPR002401 Cyt_P450_E_grp-I
    IPR036396 Cyt_P450_sf

    Pfam protein domain database

    More...    Pfami    		View protein in Pfam
    PF00067 p450, 1 hit

    Protein Motif fingerprint database; a protein domain database

    More...    PRINTSi    		PR00463 EP450I
    PR00385 P450

    Superfamily database of structural and functional annotation

    More...    SUPFAMi    		SSF48264 SSF48264, 1 hit

    PROSITE; a protein domain and family database

    More...    PROSITEi    		View protein in PROSITE
    PS00086 CYTOCHROME_P450, 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>Sequences (2+)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 describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 2 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: P11511-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide
            10         20         30         40         50
    MVLEMLNPIH YNITSIVPEA MPAATMPVLL LTGLFLLVWN YEGTSSIPGP 
            60         70         80         90        100
    GYCMGIGPLI SHGRFLWMGI GSACNYYNRV YGEFMRVWIS GEETLIISKS 
           110        120        130        140        150
    SSMFHIMKHN HYSSRFGSKL GLQCIGMHEK GIIFNNNPEL WKTTRPFFMK 
           160        170        180        190        200
    ALSGPGLVRM VTVCAESLKT HLDRLEEVTN ESGYVDVLTL LRRVMLDTSN 
           210        220        230        240        250
    TLFLRIPLDE SAIVVKIQGY FDAWQALLIK PDIFFKISWL YKKYEKSVKD 
           260        270        280        290        300
    LKDAIEVLIA EKRRRISTEE KLEECMDFAT ELILAEKRGD LTRENVNQCI 
           310        320        330        340        350
    LEMLIAAPDT MSVSLFFMLF LIAKHPNVEE AIIKEIQTVI GERDIKIDDI 
           360        370        380        390        400
    QKLKVMENFI YESMRYQPVV DLVMRKALED DVIDGYPVKK GTNIILNIGR 
           410        420        430        440        450
    MHRLEFFPKP NEFTLENFAK NVPYRYFQPF GFGPRGCAGK YIAMVMMKAI 
           460        470        480        490        500
    LVTLLRRFHV KTLQGQCVES IQKIHDLSLH PDETKNMLEM IFTPRNSDRC 

    LEH
    Length:503
    Mass (Da):57,883
    Last modified:January 23, 2007 - v3
    <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:i9BD9B28651D9A69A
    GO
    Isoform 2 (identifier: P11511-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         210-218: ESAIVVKIQ → GTEIFTLTS
         219-503: Missing.

    Note: No experimental confirmation available.
    Show »
    Length:218
    Mass (Da):24,518
    Checksum:i9C15EFD1B411087C
    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
    E9PGZ6E9PGZ6_HUMAN
    Aromatase
    CYP19A1
    		166Annotation 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>
    H0YK57H0YK57_HUMAN
    Aromatase
    CYP19A1
    		138Annotation 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>
    H0YLS2H0YLS2_HUMAN
    Aromatase
    CYP19A1
    		164Annotation 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>
    H0YKN1H0YKN1_HUMAN
    Aromatase
    CYP19A1
    		172Annotation 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>
    H0YNJ7H0YNJ7_HUMAN
    Aromatase
    CYP19A1
    		244Annotation 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>
    E7EQ08E7EQ08_HUMAN
    Aromatase
    CYP19A1
    		352Annotation 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>
    H0YLP1H0YLP1_HUMAN
    Aromatase
    CYP19A1
    		283Annotation 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>
    E7EPL6E7EPL6_HUMAN
    Aromatase
    CYP19A1
    		242Annotation 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>
    A0A087WVQ0A0A087WVQ0_HUMAN
    Aromatase
    CYP19A1
    		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>

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti496N → S in AAA35557 (PubMed:2973313).Curated1
    Sequence conflicti496N → S in CAA31929 (PubMed:2973313).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_02342839W → R2 PublicationsCorresponds to variant dbSNP:rs2236722EnsemblClinVar.1
    Natural variantiVAR_072784192R → H in AROD; strongly reduced aromatase activity; 81% reduction of androstenedione metabolism compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs765057534Ensembl.1
    Natural variantiVAR_023429201T → M2 PublicationsCorresponds to variant dbSNP:rs28757184EnsemblClinVar.1
    Natural variantiVAR_018406264R → C 1.6 fold decrease in affinity for androstenedione substrate; slightly affects PKA-mediated reduction in catalytic activity as measured in vitro by estrone synthesis from androstenedione (49% decrease compared with 36% for the wild-type protein); no effect on PKG/PRKG1-mediated reduction in catalytic activity in vitro. 6 PublicationsCorresponds to variant dbSNP:rs700519EnsemblClinVar.1
    Natural variantiVAR_077526264R → H 2.5 fold decrease in affinity for androstenedione substrate; slightly affects PKA-mediated reduction in catalytic activity as measured by estrone synthesis from androstenedione in vitro (28% decrease compared with 36% for the wild-type protein) and PKG/PRKG1-mediated reduction in catalytic activity in vitro (15% decrease compared with 30% for the wild-type protein). 1 PublicationCorresponds to variant dbSNP:rs2304462Ensembl.1
    Natural variantiVAR_079486314S → P Found in deaf patients; unknown pathological significance. 1 Publication1
    Natural variantiVAR_016962365R → Q in AROD; 0.4% of wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs80051519EnsemblClinVar.1
    Natural variantiVAR_016963375R → C in AROD. 1 PublicationCorresponds to variant dbSNP:rs121434536EnsemblClinVar.1
    Natural variantiVAR_054152375R → L1 PublicationCorresponds to variant dbSNP:rs762631156Ensembl.1
    Natural variantiVAR_016964435R → C in AROD; 1.1% of wild-type activity. 1 PublicationCorresponds to variant dbSNP:rs121434534EnsemblClinVar.1
    Natural variantiVAR_016965437C → Y in AROD; complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs78310315EnsemblClinVar.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_055583210 – 218ESAIVVKIQ → GTEIFTLTS in isoform 2. 1 Publication9
    Alternative sequenceiVSP_055584219 – 503Missing in isoform 2. 1 PublicationAdd BLAST285

    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
    		M22246 mRNA Translation: AAA35557.1
    X13589 mRNA Translation: CAA31929.1
    M18856 mRNA Translation: AAA35556.1
    J04127 mRNA Translation: AAA52132.1
    Y07508 mRNA Translation: CAA68807.1
    M30804
    , M30796, M30797, M30798, M30800, M30801, M30802, M30803 Genomic DNA Translation: AAA35728.1
    AY957953 Genomic DNA Translation: AAX44046.1
    AC012169 Genomic DNA No translation available.
    AC020891 Genomic DNA No translation available.
    BC035714 mRNA Translation: AAH35714.1
    BC107785 mRNA Translation: AAI07786.1
    M28420 mRNA Translation: AAA52141.1

    The Consensus CDS (CCDS) project

    More...    CCDSi    		CCDS10139.1 [P11511-1]

    Protein sequence database of the Protein Information Resource

    More...    PIRi    		A34451 O4HU19

    NCBI Reference Sequences

    More...    RefSeqi    		NP_000094.2, NM_000103.3 [P11511-1]
    NP_001334177.1, NM_001347248.1 [P11511-1]
    NP_001334178.1, NM_001347249.1 [P11511-1]
    NP_001334179.1, NM_001347250.1 [P11511-1]
    NP_001334180.1, NM_001347251.1 [P11511-1]
    NP_001334181.1, NM_001347252.1 [P11511-1]
    NP_001334182.1, NM_001347253.1 [P11511-1]
    NP_001334183.1, NM_001347254.1 [P11511-1]
    NP_001334184.1, NM_001347255.1 [P11511-1]
    NP_001334185.1, NM_001347256.1 [P11511-1]
    NP_112503.1, NM_031226.2 [P11511-1]

    UniGene gene-oriented nucleotide sequence clusters

    More...    UniGenei    		Hs.260074
    Hs.641200

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...    Ensembli    		ENST00000396402; ENSP00000379683; ENSG00000137869 [P11511-1]
    ENST00000396404; ENSP00000379685; ENSG00000137869 [P11511-1]
    ENST00000405913; ENSP00000383930; ENSG00000137869 [P11511-2]
    ENST00000557858; ENSP00000452627; ENSG00000137869 [P11511-2]
    ENST00000559878; ENSP00000453149; ENSG00000137869 [P11511-1]

    Database of genes from NCBI RefSeq genomes

    More...    GeneIDi    		1588

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...    KEGGi    		hsa:1588

    UCSC genome browser

    More...    UCSCi    		uc001zyz.5 human [P11511-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, 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

    Wikipedia

    Aromatase entry

    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    		M22246 mRNA Translation: AAA35557.1
    X13589 mRNA Translation: CAA31929.1
    M18856 mRNA Translation: AAA35556.1
    J04127 mRNA Translation: AAA52132.1
    Y07508 mRNA Translation: CAA68807.1
    M30804
    , M30796, M30797, M30798, M30800, M30801, M30802, M30803 Genomic DNA Translation: AAA35728.1
    AY957953 Genomic DNA Translation: AAX44046.1
    AC012169 Genomic DNA No translation available.
    AC020891 Genomic DNA No translation available.
    BC035714 mRNA Translation: AAH35714.1
    BC107785 mRNA Translation: AAI07786.1
    M28420 mRNA Translation: AAA52141.1
    CCDSiCCDS10139.1 [P11511-1]
    PIRiA34451 O4HU19
    RefSeqiNP_000094.2, NM_000103.3 [P11511-1]
    NP_001334177.1, NM_001347248.1 [P11511-1]
    NP_001334178.1, NM_001347249.1 [P11511-1]
    NP_001334179.1, NM_001347250.1 [P11511-1]
    NP_001334180.1, NM_001347251.1 [P11511-1]
    NP_001334181.1, NM_001347252.1 [P11511-1]
    NP_001334182.1, NM_001347253.1 [P11511-1]
    NP_001334183.1, NM_001347254.1 [P11511-1]
    NP_001334184.1, NM_001347255.1 [P11511-1]
    NP_001334185.1, NM_001347256.1 [P11511-1]
    NP_112503.1, NM_031226.2 [P11511-1]
    UniGeneiHs.260074
    Hs.641200

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    		PDB entryMethodResolution (Å)ChainPositionsPDBsum
    1TQAmodel-A53-495[»]
    3EQMX-ray2.90A1-503[»]
    3S79X-ray2.75A1-503[»]
    3S7SX-ray3.21A1-503[»]
    4GL5X-ray3.48A1-503[»]
    4GL7X-ray3.90A1-503[»]
    4KQ8X-ray3.29A45-503[»]
    5JKVX-ray2.75A1-503[»]
    5JKWX-ray3.00A1-503[»]
    5JL6X-ray3.00A1-503[»]
    5JL7X-ray3.10A1-503[»]
    5JL9X-ray3.10A1-503[»]
    ProteinModelPortaliP11511
    SMRiP11511
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi107960, 7 interactors
    IntActiP11511, 1 interactor
    MINTiP11511
    STRINGi9606.ENSP00000260433

    Chemistry databases

    BindingDBiP11511
    ChEMBLiCHEMBL1978
    DrugBankiDB02342 2-Methoxyestradiol
    DB00357 Aminoglutethimide
    DB01217 Anastrozole
    DB05338 atamestane-plus-toremifene
    DB00443 Betamethasone
    DB04794 Bifonazole
    DB06719 Buserelin
    DB00389 Carbimazole
    DB00269 Chlorotrianisene
    DB00856 Chlorphenesin
    DB00882 Clomifene
    DB00257 Clotrimazole
    DB04839 Cyproterone acetate
    DB01406 Danazol
    DB05804 dehydroepiandrosterone sulfate
    DB01234 Dexamethasone
    DB00255 Diethylstilbestrol
    DB02901 Dihydrotestosterone
    DB00917 Dinoprostone
    DB00858 Drostanolone
    DB01127 Econazole
    DB00974 Edetic Acid
    DB00292 Etomidate
    DB00926 Etretinate
    DB00990 Exemestane
    DB01026 Ketoconazole
    DB01006 Letrozole
    DB01227 Levomethadyl Acetate
    DB00367 Levonorgestrel
    DB00358 Mefloquine
    DB01065 Melatonin
    DB00333 Methadone
    DB06710 Methyltestosterone
    DB01110 Miconazole
    DB05749 MPI-674
    DB08804 Nandrolone decanoate
    DB00984 Nandrolone phenpropionate
    DB00184 Nicotine
    DB09389 Norgestrel
    DB01229 Paclitaxel
    DB00481 Raloxifene
    DB05875 substance P
    DB06147 Sulfathiazole
    DB00675 Tamoxifen
    DB00857 Terbinafine
    DB00894 Testolactone
    DB00624 Testosterone
    DB01007 Tioconazole
    DB00072 Trastuzumab
    DB00197 Troglitazone
    GuidetoPHARMACOLOGYi1362
    SwissLipidsiSLP:000001716

    PTM databases

    iPTMnetiP11511
    PhosphoSitePlusiP11511

    Polymorphism and mutation databases

    BioMutaiCYP19A1
    DMDMi117293

    Proteomic databases

    PaxDbiP11511
    PeptideAtlasiP11511
    PRIDEiP11511
    ProteomicsDBi52787

    Protocols and materials databases

    The DNASU plasmid repository

    More...    DNASUi    		1588
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000396402; ENSP00000379683; ENSG00000137869 [P11511-1]
    ENST00000396404; ENSP00000379685; ENSG00000137869 [P11511-1]
    ENST00000405913; ENSP00000383930; ENSG00000137869 [P11511-2]
    ENST00000557858; ENSP00000452627; ENSG00000137869 [P11511-2]
    ENST00000559878; ENSP00000453149; ENSG00000137869 [P11511-1]
    GeneIDi1588
    KEGGihsa:1588
    UCSCiuc001zyz.5 human [P11511-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...    CTDi    		1588
    DisGeNETi1588
    EuPathDBiHostDB:ENSG00000137869.13

    GeneCards: human genes, protein and diseases

    More...    GeneCardsi    		CYP19A1
    HGNCiHGNC:2594 CYP19A1
    HPAiCAB000355
    HPA051194
    MalaCardsiCYP19A1
    MIMi107910 gene
    139300 phenotype
    613546 phenotype
    neXtProtiNX_P11511
    OpenTargetsiENSG00000137869
    Orphaneti91 Aromatase deficiency
    178345 Aromatase excess syndrome
    PharmGKBiPA27091

    GenAtlas: human gene database

    More...    GenAtlasi    		Search...

    Phylogenomic databases

    eggNOGiKOG0157 Eukaryota
    COG2124 LUCA
    GeneTreeiENSGT00840000129915
    HOGENOMiHOG000111912
    HOVERGENiHBG050750
    InParanoidiP11511
    KOiK07434
    OMAiMRRIMLD
    OrthoDBi101221at2759
    PhylomeDBiP11511
    TreeFamiTF352039

    Enzyme and pathway databases

    BioCyciMetaCyc:HS06413-MONOMER
    BRENDAi1.14.14.14 2681
    ReactomeiR-HSA-193144 Estrogen biosynthesis
    R-HSA-211976 Endogenous sterols
    R-HSA-5579030 Defective CYP19A1 causes Aromatase excess syndrome (AEXS)
    SABIO-RKiP11511
    SIGNORiP11511

    Miscellaneous databases

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

    More...    ChiTaRSi    		CYP19A1 human
    EvolutionaryTraceiP11511

    The Gene Wiki collection of pages on human genes and proteins

    More...    GeneWikii    		Aromatase

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

    More...    GenomeRNAii    		1588

    Protein Ontology

    More...    PROi    		PR:P11511

    The Stanford Online Universal Resource for Clones and ESTs

    More...    SOURCEi    		Search...

    Gene expression databases

    BgeeiENSG00000137869 Expressed in 91 organ(s), highest expression level in chorionic villus
    ExpressionAtlasiP11511 baseline and differential
    GenevisibleiP11511 HS

    Family and domain databases

    Gene3Di1.10.630.10, 1 hit
    InterProiView protein in InterPro
    IPR001128 Cyt_P450
    IPR017972 Cyt_P450_CS
    IPR002401 Cyt_P450_E_grp-I
    IPR036396 Cyt_P450_sf
    PfamiView protein in Pfam
    PF00067 p450, 1 hit
    PRINTSiPR00463 EP450I
    PR00385 P450
    SUPFAMiSSF48264 SSF48264, 1 hit
    PROSITEiView protein in PROSITE
    PS00086 CYTOCHROME_P450, 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 nameiCP19A_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: P11511
    Secondary accession number(s): Q16731
    , Q3B764, Q58FA0, Q8IYJ7
    <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, 1989
    Last sequence update: January 23, 2007
    Last modified: February 13, 2019
    This is version 206 of the entry and version 3 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, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: entries, gene names and cross-references to MIM
    2. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    3. SIMILARITY comments
      Index of protein domains and families
    4. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    5. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    6. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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