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Protein

Steroid 21-hydroxylase

Gene

CYP21A2

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

Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis of mineralocorticoids and glucocorticoids (PubMed:22014889).3 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

heme1 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=1.59 µM for 17-hydroxyprogesterone1 Publication
  2. KM=12.5 µM for for 17-hydroxyprogesterone (at 37 degrees Celsius)1 Publication
  3. KM=1.05 µM for progesterone1 Publication
  1. Vmax=5.8 nmol/min/mg enzyme1 Publication
  2. Vmax=0.5 nmol/min/mg enzyme (at 37 degrees Celsius)1 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 sitei233Substrate1 Publication1
<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 bindingi428Iron (heme axial ligand)1 Publication1

<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

  • heme binding Source: UniProtKB
  • iron ion binding Source: InterPro
  • steroid 21-monooxygenase activity Source: UniProtKB
  • steroid binding Source: UniProtKB-KW
  • steroid hydroxylase activity Source: UniProtKB

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 functionMonooxygenase, Oxidoreductase
Biological processSteroidogenesis
LigandHeme, Iron, Lipid-binding, Metal-binding, Steroid-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS09769-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
1.14.99.10 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-193993 Mineralocorticoid biosynthesis
R-HSA-194002 Glucocorticoid biosynthesis
R-HSA-211976 Endogenous sterols
R-HSA-5579021 Defective CYP21A2 causes Adrenal hyperplasia 3 (AH3)

Chemistry databases

SwissLipids knowledge resource for lipid biology

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SwissLipidsi
SLP:000001618

<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:
Steroid 21-hydroxylase (EC:1.14.14.164 Publications)
Alternative name(s):
21-OHase
Cytochrome P-450c21
Cytochrome P450 21
Cytochrome P450 XXI
Cytochrome P450-C21
Cytochrome P450-C21B
<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:CYP21A2
Synonyms:CYP21, CYP21B
<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 6

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000231852.6

Human Gene Nomenclature Database

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HGNCi
HGNC:2600 CYP21A2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
613815 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P08686

<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

Endoplasmic reticulum, Membrane, Microsome

<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

Adrenal hyperplasia 3 (AH3)54 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic).
See also OMIM:201910
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_07758212L → M in AH3; non-classic form; unknown pathological significance; no effect on steroid 21-monooxygenase activity. 1 Publication1
Natural variantiVAR_02605915A → T in AH3; salt wasting form; unknown pathological significance; no significant difference in steroid 21-monooxygenase activity. 2 PublicationsCorresponds to variant dbSNP:rs63749090Ensembl.1
Natural variantiVAR_00128130P → L in AH3; non-classic form; 10% of non-classic AH3 Texan patients; 50% steroid 21-monooxygenase activity. 17 PublicationsCorresponds to variant dbSNP:rs9378251Ensembl.1
Natural variantiVAR_02606030P → Q in AH3; does not affect membrane binding; enzyme function abolished. 1 Publication1
Natural variantiVAR_06566856G → R in AH3; loss of activity. 1 Publication1
Natural variantiVAR_01836462H → L in AH3; non-classic form; simple virilizing form when associated with a second mild mutation such as S-453 or L-30; activity is significantly reduced in association with S-453. 3 PublicationsCorresponds to variant dbSNP:rs9378252Ensembl.1
Natural variantiVAR_00792364G → E in AH3; no activity. 1 Publication1
Natural variantiVAR_06566977I → T in AH3; simple virilizing form. 1 Publication1
Natural variantiVAR_02606190G → V in AH3. 1 Publication1
Natural variantiVAR_001284105P → L in AH3. 2 PublicationsCorresponds to variant dbSNP:rs550051210Ensembl.1
Natural variantiVAR_065670107L → R in AH3; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs957886272Ensembl.1
Natural variantiVAR_077584113S → F in AH3; non-classic form; loss of steroid 21-monooxygenase activity. 1 Publication1
Natural variantiVAR_065671121K → Q in AH3; non-classic form; reduced activity; decreased affinity for 17-hydroxyprogesterone and progesterone. 1 PublicationCorresponds to variant dbSNP:rs547552654Ensembl.1
Natural variantiVAR_026062124R → H in AH3. 1 PublicationCorresponds to variant dbSNP:rs72552750Ensembl.1
Natural variantiVAR_065672142L → P in AH3; loss of activity. 1 Publication1
Natural variantiVAR_065673167L → P in AH3; salt wasting form; loss of activity. 1 Publication1
Natural variantiVAR_075372169C → R in AH3; loss of hydroxylase activity toward 17-hydroxyprogesterone and progesterone. 1 Publication1
Natural variantiVAR_001285169C → Y in AH3. 1 Publication1
Natural variantiVAR_001286172I → N in AH3; simple virilizing form; 1-4% activity. 26 PublicationsCorresponds to variant dbSNP:rs6475Ensembl.1
Natural variantiVAR_026063178G → A in AH3. 1 PublicationCorresponds to variant dbSNP:rs72552751Ensembl.1
Natural variantiVAR_075373178G → R in AH3; loss of enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 PublicationCorresponds to variant dbSNP:rs772317717Ensembl.1
Natural variantiVAR_075374191Y → H in AH3; exhibits low enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 Publication1
Natural variantiVAR_008688196Missing in AH3; moderate. 1 Publication1
Natural variantiVAR_075375198L → F in AH3. 1 PublicationCorresponds to variant dbSNP:rs143240527Ensembl.1
Natural variantiVAR_026064211V → L in AH3; non-classic form; pathogenicity uncertain. 1 Publication1
Natural variantiVAR_065674230I → T in AH3. 1 Publication1
Natural variantiVAR_065675233R → K in AH3. 1 Publication1
Natural variantiVAR_001288236I → N in AH3; salt wasting form. 5 PublicationsCorresponds to variant dbSNP:rs111647200Ensembl.1
Natural variantiVAR_001289237V → E in AH3; salt wasting form. 3 PublicationsCorresponds to variant dbSNP:rs12530380Ensembl.1
Natural variantiVAR_001290239M → K in AH3; salt wasting form. 3 PublicationsCorresponds to variant dbSNP:rs6476Ensembl.1
Natural variantiVAR_026065261L → P in AH3. 1 PublicationCorresponds to variant dbSNP:rs750337015Ensembl.1
Natural variantiVAR_026066281V → G in AH3; salt wasting form. 1 Publication1
Natural variantiVAR_001292281V → L in AH3; non-classic form; 50% activity; most common variant; normal KM but 20% reduced Vmax. 23 PublicationsCorresponds to variant dbSNP:rs6471Ensembl.1
Natural variantiVAR_075376282H → N in AH3; exhibits low enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 Publication1
Natural variantiVAR_026067283M → L in AH3. 1 Publication1
Natural variantiVAR_026068291G → C in AH3. 1 Publication1
Natural variantiVAR_018365291G → R in AH3. 1 PublicationCorresponds to variant dbSNP:rs201552310Ensembl.1
Natural variantiVAR_001293291G → S in AH3; salt wasting form; less then 1% activity. 6 PublicationsCorresponds to variant dbSNP:rs201552310Ensembl.1
Natural variantiVAR_065676292G → D in AH3; salt wasting form; less then 1% activity. 1 Publication1
Natural variantiVAR_026069300L → F in AH3; salt wasting form. 1 PublicationCorresponds to variant dbSNP:rs765001985Ensembl.1
Natural variantiVAR_018366301S → Y in AH3. 1 Publication1
Natural variantiVAR_075377302W → R in AH3; loss of enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 Publication1
Natural variantiVAR_026071317L → M in AH3. 1 Publication1
Natural variantiVAR_065677320E → K in AH3; simple virilizing form; 4% activity. 1 Publication1
Natural variantiVAR_001294339R → H in AH3; non-classic form; 50% activity. 1 PublicationCorresponds to variant dbSNP:rs72552754Ensembl.1
Natural variantiVAR_018367341R → P in AH3; simple virilizing form. 3 Publications1
Natural variantiVAR_001295341R → W in AH3; non-classic form; mild. Corresponds to variant dbSNP:rs72552755Ensembl.1
Natural variantiVAR_026072354R → C in AH3; salt wasting form. 1 PublicationCorresponds to variant dbSNP:rs772900496Ensembl.1
Natural variantiVAR_026073354R → H in AH3; salt wasting form. 2 PublicationsCorresponds to variant dbSNP:rs760216630Ensembl.1
Natural variantiVAR_001296356R → P in AH3; salt wasting form; 0.15% activity. 1 Publication1
Natural variantiVAR_001297356R → Q in AH3; simple virilizing form; mild; 0.65% activity. 3 PublicationsCorresponds to variant dbSNP:rs574370139Ensembl.1
Natural variantiVAR_001298356R → W in AH3; salt wasting form. 21 PublicationsCorresponds to variant dbSNP:rs7769409Ensembl.1
Natural variantiVAR_007924362A → V in AH3; no activity. 1 Publication1
Natural variantiVAR_026074363L → W in AH3. 1 Publication1
Natural variantiVAR_026075365H → Y in AH3. 1 Publication1
Natural variantiVAR_065678369R → W in AH3. 1 PublicationCorresponds to variant dbSNP:rs781074931Ensembl.1
Natural variantiVAR_001299380E → D in AH3; salt wasting form. 1 PublicationCorresponds to variant dbSNP:rs72552756Ensembl.1
Natural variantiVAR_077587389 – 391Missing in AH3; salt wasting form; loss of steroid 21-monooxygenase activity. 1 Publication3
Natural variantiVAR_026077408R → C in AH3; very low residual activity. 3 PublicationsCorresponds to variant dbSNP:rs72552757Ensembl.1
Natural variantiVAR_026078424G → S in AH3; very low activity. 4 PublicationsCorresponds to variant dbSNP:rs72552758Ensembl.1
Natural variantiVAR_075378426R → C in AH3; loss of enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 Publication1
Natural variantiVAR_026079426R → H in AH3; loss of enzymatic activity toward 17-hydroxyprogesterone. 3 PublicationsCorresponds to variant dbSNP:rs151344504Ensembl.1
Natural variantiVAR_026080435R → C in AH3. 1 PublicationCorresponds to variant dbSNP:rs767333157Ensembl.1
Natural variantiVAR_077589450T → P in AH3; salt wasting form; loss of steroid 21-monooxygenase activity. 1 Publication1
Natural variantiVAR_001300453P → S in AH3; non-classic form; simple virilizing form when associated with L-62; 50% of activity; almost completely abolished enzyme activity when associated with S-375. 18 PublicationsCorresponds to variant dbSNP:rs6445Ensembl.1
Natural variantiVAR_026081479R → L in AH3. 1 PublicationCorresponds to variant dbSNP:rs184649564Ensembl.1
Natural variantiVAR_026082482P → S in AH3; reduced enzyme activity to 70% of normal. 2 PublicationsCorresponds to variant dbSNP:rs776989258Ensembl.1
Natural variantiVAR_001301483R → P in AH3; moderate; 1-2% of activity. 7 PublicationsCorresponds to variant dbSNP:rs200005406Ensembl.1
Natural variantiVAR_018368483R → Q in AH3. 1 PublicationCorresponds to variant dbSNP:rs200005406Ensembl.1
Natural variantiVAR_026083483R → W in AH3; salt wasting form. 1 PublicationCorresponds to variant dbSNP:rs759736443Ensembl.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>Mutagenesisi268S → C, M or T: No loss of function. 1 Publication1
Mutagenesisi281V → I: Normal KM but 50% reduced Vmax. 1
Mutagenesisi281V → T: Normal KM but 10% reduced Vmax. 1
Mutagenesisi428C → M, S or T: Loss of activity and loss of P450 absorption. 1 Publication1

Keywords - Diseasei

Congenital adrenal hyperplasia, Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
1589

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
CYP21A2

MalaCards human disease database

More...
MalaCardsi
CYP21A2
MIMi201910 phenotype

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

More...
Orphaneti
315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
95698 NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA27096

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL2759

Drug and drug target database

More...
DrugBanki
DB01026 Ketoconazole

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
CYP21A2

Domain mapping of disease mutations (DMDM)

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DMDMi
117275

<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_00000519761 – 494Steroid 21-hydroxylaseAdd BLAST494

Proteomic databases

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

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PaxDbi
P08686

PeptideAtlas

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PeptideAtlasi
P08686

PRoteomics IDEntifications database

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PRIDEi
P08686

ProteomicsDB human proteome resource

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ProteomicsDBi
52155

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P08686

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

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PhosphoSitePlusi
P08686

<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
ENSG00000231852 Expressed in 83 organ(s), highest expression level in left adrenal gland

CleanEx database of gene expression profiles

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CleanExi
HS_CYP21A2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P08686 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P08686 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA048979
HPA053371

<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

STRING: functional protein association networks

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STRINGi
9606.ENSP00000408860

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P08686

<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

1494
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
P08686

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

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SMRi
P08686

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...

<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>Regioni342 – 358Steroid-bindingBy similarityAdd BLAST17

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The leucine-rich hydrophobic amino acid N-terminal region probably helps to anchor the protein to the microsomal membrane.1 Publication

<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

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eggNOGi
KOG0156 Eukaryota
COG2124 LUCA

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000036991

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG106944

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P08686

KEGG Orthology (KO)

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KOi
K00513

Database of Orthologous Groups

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OrthoDBi
EOG091G074I

Database for complete collections of gene phylogenies

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PhylomeDBi
P08686

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.630.10, 1 hit

Integrated resource of protein families, domains and functional sites

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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

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Pfami
View protein in Pfam
PF00067 p450, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00463 EP450I
PR00385 P450

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48264 SSF48264, 1 hit

PROSITE; a protein domain and family database

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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 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P08686-1) [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.

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MLLLGLLLLP LLAGARLLWN WWKLRSLHLP PLAPGFLHLL QPDLPIYLLG
60 70 80 90 100
LTQKFGPIYR LHLGLQDVVV LNSKRTIEEA MVKKWADFAG RPEPLTYKLV
110 120 130 140 150
SKNYPDLSLG DYSLLWKAHK KLTRSALLLG IRDSMEPVVE QLTQEFCERM
160 170 180 190 200
RAQPGTPVAI EEEFSLLTCS IICYLTFGDK IKDDNLMPAY YKCIQEVLKT
210 220 230 240 250
WSHWSIQIVD VIPFLRFFPN PGLRRLKQAI EKRDHIVEMQ LRQHKESLVA
260 270 280 290 300
GQWRDMMDYM LQGVAQPSME EGSGQLLEGH VHMAAVDLLI GGTETTANTL
310 320 330 340 350
SWAVVFLLHH PEIQQRLQEE LDHELGPGAS SSRVPYKDRA RLPLLNATIA
360 370 380 390 400
EVLRLRPVVP LALPHRTTRP SSISGYDIPE GTVIIPNLQG AHLDETVWER
410 420 430 440 450
PHEFWPDRFL EPGKNSRALA FGCGARVCLG EPLARLELFV VLTRLLQAFT
460 470 480 490
LLPSGDALPS LQPLPHCSVI LKMQPFQVRL QPRGMGAHSP GQNQ
Length:494
Mass (Da):55,887
Last modified:January 1, 1988 - 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:i7E1FF83B59FBA136
GO
Isoform 2 (identifier: P08686-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     6-6: L → LL
     68-102: VVVLNSKRTIEEAMVKKWADFAGRPEPLTYKLVSK → KLVSR

Note: No experimental confirmation available.
Show »
Length:465
Mass (Da):52,597
Checksum:i467E740266FFCE89
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q16874Q16874_HUMAN
Cytochrome P450 21-hydroxylase
CYP21A2 CYP21B, P450-CYP21B, hCG_1999926
495Annotation 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>
A0A0G2JJF2A0A0G2JJF2_HUMAN
Steroid 21-hydroxylase
CYP21A2
464Annotation 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>
E7EN87E7EN87_HUMAN
Steroid 21-hydroxylase
CYP21A2
190Annotation 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>
E7EVC0E7EVC0_HUMAN
Steroid 21-hydroxylase
CYP21A2
186Annotation 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>
E7ERT7E7ERT7_HUMAN
Steroid 21-hydroxylase
CYP21A2
108Annotation 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>
F8WBR4F8WBR4_HUMAN
Steroid 21-hydroxylase
CYP21A2
78Annotation 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 conflicti155G → D in BAB70774 (PubMed:14702039).Curated1
Sequence conflicti242R → G in BAB70774 (PubMed:14702039).Curated1
Sequence conflicti277L → Q in BAB70774 (PubMed:14702039).Curated1
Sequence conflicti304V → A in BAB70774 (PubMed:14702039).Curated1
Sequence conflicti311P → L in AAA59985 (PubMed:3497399).Curated1
Sequence conflicti346N → I in AAA59985 (PubMed:3497399).Curated1
Sequence conflicti426R → P in AAB59440 (PubMed:3486422).Curated1
Sequence conflicti437E → D in AAB59440 (PubMed:3486422).Curated1

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Seven non deleterious alleles are known: CYP21A2*1A, CYP21A2*1B, CYP21A2*2, CYP21A2*3, CYP21A2*4, CYP21A2*5 and CYP21A2*6. The sequence shown corresponds to allele CYP21A2*1B. Deleterious alleles are mostly generated by recombinations between CYP21A2 and the pseudogene CYP21A1P through gene conversion. This process consists of recombination events that either delete CYP21A2 or transfer deleterious mutations from CYP21A1P to CYP21A2.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0183639L → LL in allele CYP21A2*2. 4 Publications1
Natural variantiVAR_07758212L → M in AH3; non-classic form; unknown pathological significance; no effect on steroid 21-monooxygenase activity. 1 Publication1
Natural variantiVAR_02605915A → T in AH3; salt wasting form; unknown pathological significance; no significant difference in steroid 21-monooxygenase activity. 2 PublicationsCorresponds to variant dbSNP:rs63749090Ensembl.1
Natural variantiVAR_07758316R → C Decreased steroid 21-monooxygenase activity. 1 PublicationCorresponds to variant dbSNP:rs757608533Ensembl.1
Natural variantiVAR_00128130P → L in AH3; non-classic form; 10% of non-classic AH3 Texan patients; 50% steroid 21-monooxygenase activity. 17 PublicationsCorresponds to variant dbSNP:rs9378251Ensembl.1
Natural variantiVAR_02606030P → Q in AH3; does not affect membrane binding; enzyme function abolished. 1 Publication1
Natural variantiVAR_06566856G → R in AH3; loss of activity. 1 Publication1
Natural variantiVAR_01836462H → L in AH3; non-classic form; simple virilizing form when associated with a second mild mutation such as S-453 or L-30; activity is significantly reduced in association with S-453. 3 PublicationsCorresponds to variant dbSNP:rs9378252Ensembl.1
Natural variantiVAR_00792364G → E in AH3; no activity. 1 Publication1
Natural variantiVAR_06566977I → T in AH3; simple virilizing form. 1 Publication1
Natural variantiVAR_02606190G → V in AH3. 1 Publication1
Natural variantiVAR_00128298K → R. 1
Natural variantiVAR_001283102K → R in allele CYP21A2*3. 3 PublicationsCorresponds to variant dbSNP:rs6474Ensembl.1
Natural variantiVAR_001284105P → L in AH3. 2 PublicationsCorresponds to variant dbSNP:rs550051210Ensembl.1
Natural variantiVAR_065670107L → R in AH3; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs957886272Ensembl.1
Natural variantiVAR_077584113S → F in AH3; non-classic form; loss of steroid 21-monooxygenase activity. 1 Publication1
Natural variantiVAR_065671121K → Q in AH3; non-classic form; reduced activity; decreased affinity for 17-hydroxyprogesterone and progesterone. 1 PublicationCorresponds to variant dbSNP:rs547552654Ensembl.1
Natural variantiVAR_026062124R → H in AH3. 1 PublicationCorresponds to variant dbSNP:rs72552750Ensembl.1
Natural variantiVAR_065672142L → P in AH3; loss of activity. 1 Publication1
Natural variantiVAR_065673167L → P in AH3; salt wasting form; loss of activity. 1 Publication1
Natural variantiVAR_075372169C → R in AH3; loss of hydroxylase activity toward 17-hydroxyprogesterone and progesterone. 1 Publication1
Natural variantiVAR_001285169C → Y in AH3. 1 Publication1
Natural variantiVAR_001286172I → N in AH3; simple virilizing form; 1-4% activity. 26 PublicationsCorresponds to variant dbSNP:rs6475Ensembl.1
Natural variantiVAR_026063178G → A in AH3. 1 PublicationCorresponds to variant dbSNP:rs72552751Ensembl.1
Natural variantiVAR_075373178G → R in AH3; loss of enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 PublicationCorresponds to variant dbSNP:rs772317717Ensembl.1
Natural variantiVAR_001287183D → E in allele CYP21A2*4. Corresponds to variant dbSNP:rs397515531Ensembl.1
Natural variantiVAR_075374191Y → H in AH3; exhibits low enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 Publication1
Natural variantiVAR_008688196Missing in AH3; moderate. 1 Publication1
Natural variantiVAR_075375198L → F in AH3. 1 PublicationCorresponds to variant dbSNP:rs143240527Ensembl.1
Natural variantiVAR_077585202S → G Decreased steroid 21-monooxygenase activity. 1 PublicationCorresponds to variant dbSNP:rs372964292Ensembl.1
Natural variantiVAR_026064211V → L in AH3; non-classic form; pathogenicity uncertain. 1 Publication1
Natural variantiVAR_065674230I → T in AH3. 1 Publication1
Natural variantiVAR_065675233R → K in AH3. 1 Publication1
Natural variantiVAR_001288236I → N in AH3; salt wasting form. 5 PublicationsCorresponds to variant dbSNP:rs111647200Ensembl.1
Natural variantiVAR_001289237V → E in AH3; salt wasting form. 3 PublicationsCorresponds to variant dbSNP:rs12530380Ensembl.1
Natural variantiVAR_001290239M → K in AH3; salt wasting form. 3 PublicationsCorresponds to variant dbSNP:rs6476Ensembl.1
Natural variantiVAR_026065261L → P in AH3. 1 PublicationCorresponds to variant dbSNP:rs750337015Ensembl.1
Natural variantiVAR_077586267P → L Decreased steroid 21-monooxygenase activity. 1 PublicationCorresponds to variants dbSNP:rs61732108 and dbSNP:rs142028935EnsemblEnsembl.1
Natural variantiVAR_001291268S → T in allele CYP21A2*5. 4 PublicationsCorresponds to variant dbSNP:rs6472Ensembl.1
Natural variantiVAR_026066281V → G in AH3; salt wasting form. 1 Publication1
Natural variantiVAR_001292281V → L in AH3; non-classic form; 50% activity; most common variant; normal KM but 20% reduced Vmax. 23 PublicationsCorresponds to variant dbSNP:rs6471Ensembl.1
Natural variantiVAR_075376282H → N in AH3; exhibits low enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 Publication1
Natural variantiVAR_026067283M → L in AH3. 1 Publication1
Natural variantiVAR_026068291G → C in AH3. 1 Publication1
Natural variantiVAR_018365291G → R in AH3. 1 PublicationCorresponds to variant dbSNP:rs201552310Ensembl.1
Natural variantiVAR_001293291G → S in AH3; salt wasting form; less then 1% activity. 6 PublicationsCorresponds to variant dbSNP:rs201552310Ensembl.1
Natural variantiVAR_065676292G → D in AH3; salt wasting form; less then 1% activity. 1 Publication1
Natural variantiVAR_026069300L → F in AH3; salt wasting form. 1 PublicationCorresponds to variant dbSNP:rs765001985Ensembl.1
Natural variantiVAR_018366301S → Y in AH3. 1 Publication1
Natural variantiVAR_075377302W → R in AH3; loss of enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 Publication1
Natural variantiVAR_026070304V → M in hyperandrogenism; due to 21-hydroxylase deficiency; non-classic type; residual activity of 46% for conversion of 17-hydroxyprogesterone and 26% for conversion of progesterone compared with the normal enzyme. 1 PublicationCorresponds to variant dbSNP:rs151344505Ensembl.1
Natural variantiVAR_026071317L → M in AH3. 1 Publication1
Natural variantiVAR_065677320E → K in AH3; simple virilizing form; 4% activity. 1 Publication1
Natural variantiVAR_001294339R → H in AH3; non-classic form; 50% activity. 1 PublicationCorresponds to variant dbSNP:rs72552754Ensembl.1
Natural variantiVAR_018367341R → P in AH3; simple virilizing form. 3 Publications1
Natural variantiVAR_001295341R → W in AH3; non-classic form; mild. Corresponds to variant dbSNP:rs72552755Ensembl.1
Natural variantiVAR_026072354R → C in AH3; salt wasting form. 1 Publication