UniProtKB - P15538 (C11B1_HUMAN)
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- BLAST>sp|P15538|C11B1_HUMAN Cytochrome P450 11B1, mitochondrial OS=Homo sapiens OX=9606 GN=CYP11B1 PE=1 SV=5 MALRAKAEVCMAVPWLSLQRAQALGTRAARVPRTVLPFEAMPRRPGNRWLRLLQIWREQG YEDLHLEVHQTFQELGPIFRYDLGGAGMVCVMLPEDVEKLQQVDSLHPHRMSLEPWVAYR QHRGHKCGVFLLNGPEWRFNRLRLNPEVLSPNAVQRFLPMVDAVARDFSQALKKKVLQNA RGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSSASLNFLHALEVMFKSTVQLMFM PRSLSRWTSPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFSRPQQYTSIVAELLLNAELS PDAIKANSMELTAGSVDTTVFPLLMTLFELARNPNVQQALRQESLAAAASISEHPQKATT ELPLLRAALKETLRLYPVGLFLERVASSDLVLQNYHIPAGTLVRVFLYSLGRNPALFPRP ERYNPQRWLDIRGSGRNFYHVPFGFGMRQCLGRRLAEAEMLLLLHHVLKHLQVETLTQED IKMVYSFILRPSMFPLLTFRAIN
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Protein
Cytochrome P450 11B1, mitochondrial
Gene
CYP11B1
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>Select a section on the left to see content.
<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
Has steroid 11-beta-hydroxylase activity. In addition to this activity, the 18 or 19-hydroxylation of steroids and the aromatization of androstendione to estrone have also been ascribed to cytochrome P450 XIB.
<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. the chemical reaction it catalyzes. This information usually correlates with the presence of an EC (Enzyme Commission) number in the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi
A steroid + 2 reduced adrenodoxin + O2 + 2 H+ = an 11-beta-hydroxysteroid + 2 oxidized adrenodoxin + H2O.
<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
hemeBy similarity
<p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi
Sites
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <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 bindingi | 450 | Iron (heme axial ligand)By similarity | 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
- corticosterone 18-monooxygenase activity Source: GO_Central
- heme binding Source: BHF-UCL <p>Inferred by Curator</p> <p>Used for cases where an annotation is not supported by any evidence but can be reasonably inferred by a curator from other GO annotations for which evidence <br />is available.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ic">GO evidence code guide</a></p> Inferred by curatori
- iron ion binding Source: InterPro
- steroid 11-beta-monooxygenase activity Source: BHF-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
<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 - Biological processi
- aldosterone biosynthetic process Source: BHF-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- C21-steroid hormone biosynthetic process Source: BHF-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- cellular response to hormone stimulus Source: UniProtKB <p>Inferred from Expression Pattern</p> <p>Covers cases where the annotation is inferred from the timing or location of expression of a gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#iep">GO evidence code guide</a></p> Inferred from expression patterni
- cellular response to potassium ion Source: UniProtKB <p>Inferred from Expression Pattern</p> <p>Covers cases where the annotation is inferred from the timing or location of expression of a gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#iep">GO evidence code guide</a></p> Inferred from expression patterni
- cortisol biosynthetic process Source: BHF-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- glucocorticoid biosynthetic process Source: Reactome
- glucose homeostasis Source: BHF-UCL <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- immune response Source: BHF-UCL <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- regulation of blood pressure Source: BHF-UCL <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- sterol metabolic process Source: Reactome
<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 function | Monooxygenase, Oxidoreductase |
| Biological process | Lipid metabolism, Steroid metabolism, Steroidogenesis |
| Ligand | Heme, Iron, Metal-binding |
Enzyme and pathway databases
BioCyc Collection of Pathway/Genome Databases More...BioCyci | MetaCyc:HS08547-MONOMER |
BRENDA Comprehensive Enzyme Information System More...BRENDAi | 1.14.15.4 2681 |
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-HSA-194002 Glucocorticoid biosynthesis R-HSA-211976 Endogenous sterols R-HSA-5579017 Defective CYP11B1 causes Adrenal hyperplasia 4 (AH4) |
SIGNOR Signaling Network Open Resource More...SIGNORi | P15538 |
Chemistry databases
SwissLipids knowledge resource for lipid biology More...SwissLipidsi | SLP:000001197 |
<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: Cytochrome P450 11B1, mitochondrialAlternative name(s): |
| <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:CYP11B1 Synonyms:S11BH |
| <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>Organismi | Homo 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 identifieri | 9606 [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 lineagei | cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › 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 |
|
Organism-specific databases
Eukaryotic Pathogen Database Resources More...EuPathDBi | HostDB:ENSG00000160882.11 |
Human Gene Nomenclature Database More...HGNCi | HGNC:2591 CYP11B1 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 610613 gene |
neXtProt; the human protein knowledge platform More...neXtProti | NX_P15538 |
<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
Mitochondrion
Mitochondrion
- mitochondrial inner membrane Source: BHF-UCL <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- mitochondrion Source: BHF-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
<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>Keywords - Cellular componenti
Membrane, Mitochondrion<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 4 (AH4)12 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.10"A mutation in CYP11B1 (Arg-448-->His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin."
White P.C., Dupont J., New M.I., Leiberman E., Hochberg Z., Roesler A.
J. Clin. Invest. 87:1664-1667(1991) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AH4 HIS-448. - Ref.11"CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency."
Joehrer K., Geley S., Strasser-Wozak E.M.C., Azziz R., Wollmann H.A., Schmitt K., Kofler R., White P.C.
Hum. Mol. Genet. 6:1829-1834(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AH4 SER-42; HIS-133 AND MET-319. - Ref.15"21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia."
Grigorescu Sido A., Weber M.M., Grigorescu Sido P., Clausmeyer S., Heinrich U., Schulze E.
J. Clin. Endocrinol. Metab. 90:5769-5773(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AH4 LEU-94; ARG-318 AND HIS-448. - Ref.16"Only two mutations detected in 15 Tunisian patients with 11beta-hydroxylase deficiency: the p.Q356X and the novel p.G379V."
Kharrat M., Trabelsi S., Chaabouni M., Maazoul F., Kraoua L., Ben Jemaa L., Gandoura N., Barsaoui S., Morel Y., M'rad R., Chaabouni H.
Clin. Genet. 78:398-401(2010) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AH4 VAL-379. - Ref.17"Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency."
Parajes S., Loidi L., Reisch N., Dhir V., Rose I.T., Hampel R., Quinkler M., Conway G.S., Castro-Feijoo L., Araujo-Vilar D., Pombo M., Dominguez F., Williams E.L., Cole T.R., Kirk J.M., Kaminsky E., Rumsby G., Arlt W., Krone N.
J. Clin. Endocrinol. Metab. 95:779-788(2010) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AH4 SER-42; GLN-43; SER-83; ILE-88; LEU-94; CYS-116; GLY-116; ARG-125; MET-129; HIS-133; SER-135; LEU-139; PRO-158; LEU-159; VAL-161 DEL; ASP-165; ALA-196; 254-LYS--ALA-259 DEL; ASP-267; PRO-299; VAL-306; ARG-314; ARG-318; MET-318; PRO-318; MET-319; VAL-321; VAL-331; SER-341; CYS-366; ASP-368; GLY-371; GLN-374; GLN-384; GLY-384; VAL-386; ALA-401; HIS-427; PHE-438 DEL; GLY-441; ASP-444; CYS-448; HIS-448; GLN-453 AND SER-489, CHARACTERIZATION OF VARIANTS AH4 SER-42; GLN-43; SER-83; ILE-88; LEU-94; CYS-116; GLY-116; ARG-125; MET-129; HIS-133; SER-135; LEU-139; PRO-158; LEU-159; ASP-165; ALA-196; 254-LYS--ALA-259 DEL; PRO-299; ARG-314; MET-318; MET-319; VAL-331; CYS-366; ASP-368; GLY-371; GLN-374; GLN-384; ALA-401; PHE-438 DEL; GLY-441; CYS-448; HIS-448 AND GLN-453. - Ref.19"A diagnosis not to be missed: nonclassic steroid 11beta-hydroxylase deficiency presenting with premature adrenarche and hirsutism."
Reisch N., Hoegler W., Parajes S., Rose I.T., Dhir V., Goetzinger J., Arlt W., Krone N.
J. Clin. Endocrinol. Metab. 98:E1620-E1625(2013) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT AH4 ILE-79, CHARACTERIZATION OF VARIANT AH4 ILE-79. - Ref.20"Characterisation of three novel CYP11B1 mutations in classic and non-classic 11beta-hydroxylase deficiency."
Polat S., Kulle A., Karaca Z., Akkurt I., Kurtoglu S., Kelestimur F., Groetzinger J., Holterhus P.M., Riepe F.G.
Eur. J. Endocrinol. 170:697-706(2014) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AH4 LEU-150 AND LEU-463 INS, CHARACTERIZATION OF VARIANTS AH4 LEU-150 AND LEU-463 INS. - Ref.21"Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations."
Menabo S., Polat S., Baldazzi L., Kulle A.E., Holterhus P.M., Groetzinger J., Fanelli F., Balsamo A., Riepe F.G.
Eur. J. Hum. Genet. 22:610-616(2014) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AH4 TRP-143; PRO-299; VAL-306; LYS-310 AND GLN-332, CHARACTERIZATION OF VARIANTS AH4 TRP-143; VAL-306; LYS-310 AND GLN-332. - Ref.22"Two novel CYP11B1 gene mutations in patients from two Croatian families with 11 beta-hydroxylase deficiency."
Dumic K., Yuen T., Grubic Z., Kusec V., Barisic I., New M.I.
Int. J. Endocrinol. 2014:185974-185979(2014) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AH4 GLN-141; ARG-318 AND HIS-448. - Ref.23"Characterization of the molecular genetic pathology in patients with 11beta-hydroxylase deficiency."
Mooij C.F., Parajes S., Rose I.T., Taylor A.E., Bayraktaroglu T., Wass J.A., Connell J.M., Ray D.W., Arlt W., Krone N.
Clin. Endocrinol. (Oxf.) 83:629-635(2015) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AH4 LEU-42 AND SER-42, CHARACTERIZATION OF VARIANTS AH4 LEU-42 AND SER-42. - Ref.24"Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene."
Nguyen H.H., Eiden-Plach A., Hannemann F., Malunowicz E.M., Hartmann M.F., Wudy S.A., Bernhardt R.
J. Steroid Biochem. Mol. Biol. 155:126-134(2016) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS AH4 ARG-318; GLY-332 AND HIS-448, CHARACTERIZATION OF VARIANT GLY-332.
Ref.10
"A mutation in CYP11B1 (Arg-448-->His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin."
White P.C., Dupont J., New M.I., Leiberman E., Hochberg Z., Roesler A.
J. Clin. Invest. 87:1664-1667(1991) [PubMed] [Europe PMC] [Abstract]
White P.C., Dupont J., New M.I., Leiberman E., Hochberg Z., Roesler A.
J. Clin. Invest. 87:1664-1667(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AH4 HIS-448.
Ref.11
"CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency."
Joehrer K., Geley S., Strasser-Wozak E.M.C., Azziz R., Wollmann H.A., Schmitt K., Kofler R., White P.C.
Hum. Mol. Genet. 6:1829-1834(1997) [PubMed] [Europe PMC] [Abstract]
Joehrer K., Geley S., Strasser-Wozak E.M.C., Azziz R., Wollmann H.A., Schmitt K., Kofler R., White P.C.
Hum. Mol. Genet. 6:1829-1834(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AH4 SER-42; HIS-133 AND MET-319.
Ref.15
"21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia."
Grigorescu Sido A., Weber M.M., Grigorescu Sido P., Clausmeyer S., Heinrich U., Schulze E.
J. Clin. Endocrinol. Metab. 90:5769-5773(2005) [PubMed] [Europe PMC] [Abstract]
Grigorescu Sido A., Weber M.M., Grigorescu Sido P., Clausmeyer S., Heinrich U., Schulze E.
J. Clin. Endocrinol. Metab. 90:5769-5773(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AH4 LEU-94; ARG-318 AND HIS-448.
Ref.16
"Only two mutations detected in 15 Tunisian patients with 11beta-hydroxylase deficiency: the p.Q356X and the novel p.G379V."
Kharrat M., Trabelsi S., Chaabouni M., Maazoul F., Kraoua L., Ben Jemaa L., Gandoura N., Barsaoui S., Morel Y., M'rad R., Chaabouni H.
Clin. Genet. 78:398-401(2010) [PubMed] [Europe PMC] [Abstract]
Kharrat M., Trabelsi S., Chaabouni M., Maazoul F., Kraoua L., Ben Jemaa L., Gandoura N., Barsaoui S., Morel Y., M'rad R., Chaabouni H.
Clin. Genet. 78:398-401(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AH4 VAL-379.
Ref.17
"Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency."
Parajes S., Loidi L., Reisch N., Dhir V., Rose I.T., Hampel R., Quinkler M., Conway G.S., Castro-Feijoo L., Araujo-Vilar D., Pombo M., Dominguez F., Williams E.L., Cole T.R., Kirk J.M., Kaminsky E., Rumsby G., Arlt W., Krone N.
J. Clin. Endocrinol. Metab. 95:779-788(2010) [PubMed] [Europe PMC] [Abstract]
Parajes S., Loidi L., Reisch N., Dhir V., Rose I.T., Hampel R., Quinkler M., Conway G.S., Castro-Feijoo L., Araujo-Vilar D., Pombo M., Dominguez F., Williams E.L., Cole T.R., Kirk J.M., Kaminsky E., Rumsby G., Arlt W., Krone N.
J. Clin. Endocrinol. Metab. 95:779-788(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AH4 SER-42; GLN-43; SER-83; ILE-88; LEU-94; CYS-116; GLY-116; ARG-125; MET-129; HIS-133; SER-135; LEU-139; PRO-158; LEU-159; VAL-161 DEL; ASP-165; ALA-196; 254-LYS--ALA-259 DEL; ASP-267; PRO-299; VAL-306; ARG-314; ARG-318; MET-318; PRO-318; MET-319; VAL-321; VAL-331; SER-341; CYS-366; ASP-368; GLY-371; GLN-374; GLN-384; GLY-384; VAL-386; ALA-401; HIS-427; PHE-438 DEL; GLY-441; ASP-444; CYS-448; HIS-448; GLN-453 AND SER-489, CHARACTERIZATION OF VARIANTS AH4 SER-42; GLN-43; SER-83; ILE-88; LEU-94; CYS-116; GLY-116; ARG-125; MET-129; HIS-133; SER-135; LEU-139; PRO-158; LEU-159; ASP-165; ALA-196; 254-LYS--ALA-259 DEL; PRO-299; ARG-314; MET-318; MET-319; VAL-331; CYS-366; ASP-368; GLY-371; GLN-374; GLN-384; ALA-401; PHE-438 DEL; GLY-441; CYS-448; HIS-448 AND GLN-453.
Ref.19
"A diagnosis not to be missed: nonclassic steroid 11beta-hydroxylase deficiency presenting with premature adrenarche and hirsutism."
Reisch N., Hoegler W., Parajes S., Rose I.T., Dhir V., Goetzinger J., Arlt W., Krone N.
J. Clin. Endocrinol. Metab. 98:E1620-E1625(2013) [PubMed] [Europe PMC] [Abstract]
Reisch N., Hoegler W., Parajes S., Rose I.T., Dhir V., Goetzinger J., Arlt W., Krone N.
J. Clin. Endocrinol. Metab. 98:E1620-E1625(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AH4 ILE-79, CHARACTERIZATION OF VARIANT AH4 ILE-79.
Ref.20
"Characterisation of three novel CYP11B1 mutations in classic and non-classic 11beta-hydroxylase deficiency."
Polat S., Kulle A., Karaca Z., Akkurt I., Kurtoglu S., Kelestimur F., Groetzinger J., Holterhus P.M., Riepe F.G.
Eur. J. Endocrinol. 170:697-706(2014) [PubMed] [Europe PMC] [Abstract]
Polat S., Kulle A., Karaca Z., Akkurt I., Kurtoglu S., Kelestimur F., Groetzinger J., Holterhus P.M., Riepe F.G.
Eur. J. Endocrinol. 170:697-706(2014) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AH4 LEU-150 AND LEU-463 INS, CHARACTERIZATION OF VARIANTS AH4 LEU-150 AND LEU-463 INS.
Ref.21
"Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations."
Menabo S., Polat S., Baldazzi L., Kulle A.E., Holterhus P.M., Groetzinger J., Fanelli F., Balsamo A., Riepe F.G.
Eur. J. Hum. Genet. 22:610-616(2014) [PubMed] [Europe PMC] [Abstract]
Menabo S., Polat S., Baldazzi L., Kulle A.E., Holterhus P.M., Groetzinger J., Fanelli F., Balsamo A., Riepe F.G.
Eur. J. Hum. Genet. 22:610-616(2014) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AH4 TRP-143; PRO-299; VAL-306; LYS-310 AND GLN-332, CHARACTERIZATION OF VARIANTS AH4 TRP-143; VAL-306; LYS-310 AND GLN-332.
Ref.22
"Two novel CYP11B1 gene mutations in patients from two Croatian families with 11 beta-hydroxylase deficiency."
Dumic K., Yuen T., Grubic Z., Kusec V., Barisic I., New M.I.
Int. J. Endocrinol. 2014:185974-185979(2014) [PubMed] [Europe PMC] [Abstract]
Dumic K., Yuen T., Grubic Z., Kusec V., Barisic I., New M.I.
Int. J. Endocrinol. 2014:185974-185979(2014) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AH4 GLN-141; ARG-318 AND HIS-448.
Ref.23
"Characterization of the molecular genetic pathology in patients with 11beta-hydroxylase deficiency."
Mooij C.F., Parajes S., Rose I.T., Taylor A.E., Bayraktaroglu T., Wass J.A., Connell J.M., Ray D.W., Arlt W., Krone N.
Clin. Endocrinol. (Oxf.) 83:629-635(2015) [PubMed] [Europe PMC] [Abstract]
Mooij C.F., Parajes S., Rose I.T., Taylor A.E., Bayraktaroglu T., Wass J.A., Connell J.M., Ray D.W., Arlt W., Krone N.
Clin. Endocrinol. (Oxf.) 83:629-635(2015) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AH4 LEU-42 AND SER-42, CHARACTERIZATION OF VARIANTS AH4 LEU-42 AND SER-42.
Ref.24
"Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene."
Nguyen H.H., Eiden-Plach A., Hannemann F., Malunowicz E.M., Hartmann M.F., Wudy S.A., Bernhardt R.
J. Steroid Biochem. Mol. Biol. 155:126-134(2016) [PubMed] [Europe PMC] [Abstract]
Nguyen H.H., Eiden-Plach A., Hannemann F., Malunowicz E.M., Hartmann M.F., Wudy S.A., Bernhardt R.
J. Steroid Biochem. Mol. Biol. 155:126-134(2016) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS AH4 ARG-318; GLY-332 AND HIS-448, CHARACTERIZATION OF VARIANT GLY-332.
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:202010| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <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_074493 | 42 | P → L in AH4; classic; highly decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_001260 | 42 | P → S in AH4; non-classic; highly decreases steroid 11-beta-hydroxylase activity. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_014146 | 43 | R → Q in AH4; decreases steroid 11-beta-hydroxylase activity. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074494 | 79 | F → I in AH4; non-classic; highly decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074495 | 83 | L → S in AH4; highly decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074496 | 88 | M → I in AH4; slightly decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_065666 | 94 | P → L in AH4; almost abolishes steroid 11-beta-hydroxylase activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074497 | 116 | W → C in AH4; almost abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074498 | 116 | W → G in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074499 | 125 | H → R in AH4; slightly decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074500 | 129 | V → M in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_001261 | 133 | N → H in AH4; non-classic; highly decreases steroid 11-beta-hydroxylase activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074501 | 135 | P → S in AH4; highly decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074502 | 139 | F → L in AH4; decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_075553 | 141 | R → Q in AH4; unknown pathological significance. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074503 | 143 | R → W in AH4; non-classic; highly decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074504 | 150 | S → L in AH4; non-classic; highly decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074505 | 158 | L → P in AH4; highly decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074506 | 159 | P → L in AH4; decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074507 | 161 | Missing in AH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074508 | 165 | A → D in AH4; almost abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074509 | 196 | T → A in AH4; decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074510 | 254 – 259 | Missing in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 6 | |
| <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_074511 | 267 | G → D in AH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074512 | 299 | L → P in AH4; non-classic; almost abolishes steroid 11-beta-hydroxylase activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074513 | 306 | A → V in AH4; non-classic; almost abolishes steroid 11-beta-hydroxylase activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074514 | 310 | E → K in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074515 | 314 | G → R in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_001262 | 318 | T → M in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074516 | 318 | T → P in AH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_065667 | 318 | T → R in AH4. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_001263 | 319 | T → M in AH4; non-classic; decreases steroid 11-beta-hydroxylase activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074517 | 321 | F → V in AH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074518 | 331 | A → V in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_075554 | 332 | R → G in AH4; high reduction of steroid 11-beta-monooxygenase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074519 | 332 | R → Q in AH4; non-classic; highly decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074520 | 341 | R → S in AH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074521 | 366 | R → C in AH4; decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074522 | 368 | A → D in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074523 | 371 | E → G in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_001264 | 374 | R → Q in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_065196 | 379 | G → V in AH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074524 | 384 | R → G in AH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074525 | 384 | R → Q in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074526 | 401 | T → A in AH4; decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074527 | 427 | R → H in AH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074528 | 438 | Missing in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074529 | 441 | V → G in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074530 | 444 | G → D in AH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074531 | 448 | R → C in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_001265 | 448 | R → H in AH4; abolishes steroid 11-beta-hydroxylase activity. 5 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074532 | 453 | R → Q in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_065197 | 454 | R → C in AH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini | 1 | |
| <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_074533 | 463 | L → LL in AH4; classic; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074534 | 489 | L → S in AH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Hyperaldosteronism, familial, 1 (HALD1)
The disease is caused by mutations affecting the gene represented in this entry. The molecular defect causing hyperaldosteronism familial 1 is an anti-Lepore-type fusion of the CYP11B1 and CYP11B2 genes. The hybrid gene has the promoting part of CYP11B1, ACTH-sensitive, and the coding part of CYP11B2.
Disease descriptionA disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol. There is significant phenotypic heterogeneity, and some individuals never develop hypertension.
See also OMIM:103900<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>Keywords - Diseasei
Congenital adrenal hyperplasia, Disease mutationOrganism-specific databases
DisGeNET More...DisGeNETi | 1584 |
MalaCards human disease database More...MalaCardsi | CYP11B1 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 103900 phenotype 202010 phenotype |
Open Targets More...OpenTargetsi | ENSG00000160882 |
Orphanet; a database dedicated to information on rare diseases and orphan drugs More...Orphaneti | 90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency 403 Familial hyperaldosteronism type I |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA133 |
Chemistry databases
ChEMBL database of bioactive drug-like small molecules More...ChEMBLi | CHEMBL1908 |
Drug and drug target database More...DrugBanki | DB04630 Aldosterone DB00501 Cimetidine DB00257 Clotrimazole DB00292 Etomidate DB00196 Fluconazole DB00741 Hydrocortisone DB01026 Ketoconazole DB01233 Metoclopramide DB01011 Metyrapone DB01388 Mibefradil DB01110 Miconazole DB00648 Mitotane DB00252 Phenytoin DB00421 Spironolactone |
IUPHAR/BPS Guide to PHARMACOLOGY More...GuidetoPHARMACOLOGYi | 1359 |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | CYP11B1 |
Domain mapping of disease mutations (DMDM) More...DMDMi | 215274267 |
<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 key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei | 1 – 24 | MitochondrionAdd BLAST | 24 | |
| <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_0000003596 | 25 – 503 | Cytochrome P450 11B1, mitochondrialAdd BLAST | 479 |
Proteomic databases
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | P15538 |
PeptideAtlas More...PeptideAtlasi | P15538 |
PRoteomics IDEntifications database More...PRIDEi | P15538 |
ProteomicsDB human proteome resource More...ProteomicsDBi | 53185 53186 [P15538-2] |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | P15538 |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | P15538 |
<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 More...Bgeei | ENSG00000160882 |
CleanEx database of gene expression profiles More...CleanExi | HS_CYP11B1 |
ExpressionAtlas, Differential and Baseline Expression More...ExpressionAtlasi | P15538 baseline and differential |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | P15538 HS |
Organism-specific databases
Human Protein Atlas More...HPAi | HPA049171 HPA056348 HPA057752 |
<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 | 107956, 1 interactor |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000292427 |
Chemistry databases
BindingDB database of measured binding affinities More...BindingDBi | P15538 |
<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
3D structure databases
Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase More...ProteinModelPortali | P15538 |
SWISS-MODEL Repository - a database of annotated 3D protein structure models More...SMRi | P15538 |
Database of comparative protein structure models More...ModBasei | Search... |
MobiDB: a database of protein disorder and mobility annotations More...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
<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
<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>Keywords - Domaini
Transit peptidePhylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | KOG0159 Eukaryota COG2124 LUCA |
Ensembl GeneTree More...GeneTreei | ENSGT00900000140779 |
The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms More...HOGENOMi | HOG000013161 |
The HOVERGEN Database of Homologous Vertebrate Genes More...HOVERGENi | HBG051098 |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | P15538 |
KEGG Orthology (KO) More...KOi | K00497 |
Database for complete collections of gene phylogenies More...PhylomeDBi | P15538 |
TreeFam database of animal gene trees More...TreeFami | TF105094 |
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 IPR002399 Cyt_P450_mitochondrial 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 | PR00408 MITP450 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.
<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 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 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 basketAdded to basket
Isoform 1 (identifier: P15538-1) [UniParc]FASTAAdd to basketAdded to basketShow »
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.
10 20 30 40 50
MALRAKAEVC MAVPWLSLQR AQALGTRAAR VPRTVLPFEA MPRRPGNRWL
60 70 80 90 100
RLLQIWREQG YEDLHLEVHQ TFQELGPIFR YDLGGAGMVC VMLPEDVEKL
110 120 130 140 150
QQVDSLHPHR MSLEPWVAYR QHRGHKCGVF LLNGPEWRFN RLRLNPEVLS
160 170 180 190 200
PNAVQRFLPM VDAVARDFSQ ALKKKVLQNA RGSLTLDVQP SIFHYTIEAS
210 220 230 240 250
NLALFGERLG LVGHSPSSAS LNFLHALEVM FKSTVQLMFM PRSLSRWTSP
260 270 280 290 300
KVWKEHFEAW DCIFQYGDNC IQKIYQELAF SRPQQYTSIV AELLLNAELS
310 320 330 340 350
PDAIKANSME LTAGSVDTTV FPLLMTLFEL ARNPNVQQAL RQESLAAAAS
360 370 380 390 400
ISEHPQKATT ELPLLRAALK ETLRLYPVGL FLERVASSDL VLQNYHIPAG
410 420 430 440 450
TLVRVFLYSL GRNPALFPRP ERYNPQRWLD IRGSGRNFYH VPFGFGMRQC
460 470 480 490 500
LGRRLAEAEM LLLLHHVLKH LQVETLTQED IKMVYSFILR PSMFPLLTFR
AIN
Length:503
Mass (Da):57,573
Last modified:November 25, 2008 - v5
<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:i0B36D82513960EE9
Isoform 2 (identifier: P15538-2) [UniParc]FASTAAdd to basketAdded to basket
The sequence of this isoform differs from the canonical sequence as follows:
401-466: Missing.
10 20 30 40 50
MALRAKAEVC MAVPWLSLQR AQALGTRAAR VPRTVLPFEA MPRRPGNRWL
60 70 80 90 100
RLLQIWREQG YEDLHLEVHQ TFQELGPIFR YDLGGAGMVC VMLPEDVEKL
110 120 130 140 150
QQVDSLHPHR MSLEPWVAYR QHRGHKCGVF LLNGPEWRFN RLRLNPEVLS
160 170 180 190 200
PNAVQRFLPM VDAVARDFSQ ALKKKVLQNA RGSLTLDVQP SIFHYTIEAS
210 220 230 240 250
NLALFGERLG LVGHSPSSAS LNFLHALEVM FKSTVQLMFM PRSLSRWTSP
260 270 280 290 300
KVWKEHFEAW DCIFQYGDNC IQKIYQELAF SRPQQYTSIV AELLLNAELS
310 320 330 340 350
PDAIKANSME LTAGSVDTTV FPLLMTLFEL ARNPNVQQAL RQESLAAAAS
360 370 380 390 400
ISEHPQKATT ELPLLRAALK ETLRLYPVGL FLERVASSDL VLQNYHIPAG
410 420 430
VLKHLQVETL TQEDIKMVYS FILRPSMFPL LTFRAIN
Note: No experimental confirmation available.
Show »Length:437
Mass (Da):49,750
<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:iF85180BFB83C9B5A
Natural variant
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <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_014145 | 10 | C → Y1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074493 | 42 | P → L in AH4; classic; highly decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_001260 | 42 | P → S in AH4; non-classic; highly decreases steroid 11-beta-hydroxylase activity. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_014146 | 43 | R → Q in AH4; decreases steroid 11-beta-hydroxylase activity. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_014638 | 63 | D → H. Corresponds to variant dbSNP:rs5282Ensembl. | 1 | |
| <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_074494 | 79 | F → I in AH4; non-classic; highly decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074495 | 83 | L → S in AH4; highly decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074496 | 88 | M → I in AH4; slightly decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_065666 | 94 | P → L in AH4; almost abolishes steroid 11-beta-hydroxylase activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074497 | 116 | W → C in AH4; almost abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074498 | 116 | W → G in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074499 | 125 | H → R in AH4; slightly decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074500 | 129 | V → M in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_001261 | 133 | N → H in AH4; non-classic; highly decreases steroid 11-beta-hydroxylase activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074501 | 135 | P → S in AH4; highly decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074502 | 139 | F → L in AH4; decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_075553 | 141 | R → Q in AH4; unknown pathological significance. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074503 | 143 | R → W in AH4; non-classic; highly decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074504 | 150 | S → L in AH4; non-classic; highly decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074505 | 158 | L → P in AH4; highly decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074506 | 159 | P → L in AH4; decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_014147 | 160 | M → I1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074507 | 161 | Missing in AH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074508 | 165 | A → D in AH4; almost abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_014639 | 173 | K → R. Corresponds to variant dbSNP:rs4539EnsemblClinVar. | 1 | |
| <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_074509 | 196 | T → A in AH4; decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_048462 | 248 | T → I. Corresponds to variant dbSNP:rs34620645EnsemblClinVar. | 1 | |
| <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_074510 | 254 – 259 | Missing in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 6 | |
| <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_014640 | 257 | F → L. Corresponds to variant dbSNP:rs5288Ensembl. | 1 | |
| <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_074511 | 267 | G → D in AH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_014641 | 281 | S → N. Corresponds to variant dbSNP:rs5291Ensembl. | 1 | |
| <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_014148 | 293 | L → V1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074512 | 299 | L → P in AH4; non-classic; almost abolishes steroid 11-beta-hydroxylase activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074513 | 306 | A → V in AH4; non-classic; almost abolishes steroid 11-beta-hydroxylase activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074514 | 310 | E → K in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074515 | 314 | G → R in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_001262 | 318 | T → M in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074516 | 318 | T → P in AH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_065667 | 318 | T → R in AH4. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_001263 | 319 | T → M in AH4; non-classic; decreases steroid 11-beta-hydroxylase activity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074517 | 321 | F → V in AH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074518 | 331 | A → V in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_075554 | 332 | R → G in AH4; high reduction of steroid 11-beta-monooxygenase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074519 | 332 | R → Q in AH4; non-classic; highly decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074520 | 341 | R → S in AH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_014149 | 348 | A → T1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074521 | 366 | R → C in AH4; decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074522 | 368 | A → D in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074523 | 371 | E → G in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_001264 | 374 | R → Q in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_065196 | 379 | G → V in AH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074524 | 384 | R → G in AH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074525 | 384 | R → Q in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_014150 | 386 | A → V4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074526 | 401 | T → A in AH4; decreases steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_048463 | 404 | R → H. Corresponds to variant dbSNP:rs4998896Ensembl. | 1 | |
| <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_074527 | 427 | R → H in AH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074528 | 438 | Missing in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_014642 | 439 | Y → H. Corresponds to variant dbSNP:rs5294Ensembl. | 1 | |
| <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_074529 | 441 | V → G in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074530 | 444 | G → D in AH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074531 | 448 | R → C in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_001265 | 448 | R → H in AH4; abolishes steroid 11-beta-hydroxylase activity. 5 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074532 | 453 | R → Q in AH4; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_065197 | 454 | R → C in AH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini | 1 | |
| <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_074533 | 463 | L → LL in AH4; classic; abolishes steroid 11-beta-hydroxylase activity. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_074534 | 489 | L → S in AH4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <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_008687 | 494 | F → C2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Alternative sequence
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_043308 | 401 – 466 | Missing in isoform 2. 1 Publication <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More...</a></p> Manual assertion based on opinion ini
| 66 |
Sequence databases
| Select the link destinations: EMBL nucleotide sequence database More...EMBLiGenBank nucleotide sequence database More...GenBankiDNA Data Bank of Japan; a nucleotide sequence database More...DDBJiLinks Updated | M32879, M32863, M32878 Genomic DNA Translation: AAA52149.1 X55764 mRNA Translation: CAA39290.1 D16153 Genomic DNA Translation: BAB71992.1 D16155 Genomic DNA Translation: BAA03717.1 EU332839 Genomic DNA Translation: ABY87528.1 AC083841 Genomic DNA No translation available. CH471162 Genomic DNA Translation: EAW82293.1 BC096286 mRNA Translation: AAH96286.1 BC096287 mRNA Translation: AAH96287.1 M24667 mRNA Translation: AAA52148.1 Sequence problems. D10169 Genomic DNA Translation: BAA01039.1 |
The Consensus CDS (CCDS) project More...CCDSi | CCDS34953.1 [P15538-2] CCDS6392.1 [P15538-1] |
Protein sequence database of the Protein Information Resource More...PIRi | S11338 |
NCBI Reference Sequences More...RefSeqi | NP_000488.3, NM_000497.3 [P15538-1] NP_001021384.1, NM_001026213.1 [P15538-2] |
UniGene gene-oriented nucleotide sequence clusters More...UniGenei | Hs.184927 |
Genome annotation databases
Ensembl eukaryotic genome annotation project More...Ensembli | ENST00000292427; ENSP00000292427; ENSG00000160882 [P15538-1] ENST00000517471; ENSP00000428043; ENSG00000160882 [P15538-2] |
Database of genes from NCBI RefSeq genomes More...GeneIDi | 1584 |
KEGG: Kyoto Encyclopedia of Genes and Genomes More...KEGGi | hsa:1584 |
UCSC genome browser More...UCSCi | uc003yxi.4 human [P15538-1] |
<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>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
| Protein | Similar proteins | Species | Score | Length | |
|---|---|---|---|---|---|
| P15538 | Mutated cytochrome P-450c11 protein | 503 | |||
| CYP11B1 isoform 3 | 503 | ||||
| CYPXIB2 | 503 | ||||
| Cytochrome P450 family 11 subfamily B member 2 | 503 | ||||
| Cytochrome P450 11B1 | 503 | ||||
| +11 | |||||
| Protein | Similar proteins | Species | Score | Length | |
|---|---|---|---|---|---|
| P15538 | Cytochrome P450 family 11 subfamily B member 1 | 503 | |||
| Cytochrome P450 11B1 | 503 | ||||
| Mutated cytochrome P-450c11 protein | 503 | ||||
| CYP11B1 isoform 3 | 503 | ||||
| CYPXIB2 | 503 | ||||
| +43 | |||||
<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: EMBL nucleotide sequence database More...EMBLiGenBank nucleotide sequence database More...GenBankiDNA Data Bank of Japan; a nucleotide sequence database More...DDBJiLinks Updated | M32879, M32863, M32878 Genomic DNA Translation: AAA52149.1 X55764 mRNA Translation: CAA39290.1 D16153 Genomic DNA Translation: BAB71992.1 D16155 Genomic DNA Translation: BAA03717.1 EU332839 Genomic DNA Translation: ABY87528.1 AC083841 Genomic DNA No translation available. CH471162 Genomic DNA Translation: EAW82293.1 BC096286 mRNA Translation: AAH96286.1 BC096287 mRNA Translation: AAH96287.1 M24667 mRNA Translation: AAA52148.1 Sequence problems. D10169 Genomic DNA Translation: BAA01039.1 |
The Consensus CDS (CCDS) project More...CCDSi | CCDS34953.1 [P15538-2] CCDS6392.1 [P15538-1] |
Protein sequence database of the Protein Information Resource More...PIRi | S11338 |
NCBI Reference Sequences More...RefSeqi | NP_000488.3, NM_000497.3 [P15538-1] NP_001021384.1, NM_001026213.1 [P15538-2] |
UniGene gene-oriented nucleotide sequence clusters More...UniGenei | Hs.184927 |
3D structure databases
Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase More...ProteinModelPortali | P15538 |
SWISS-MODEL Repository - a database of annotated 3D protein structure models More...SMRi | P15538 |
Database of comparative protein structure models More...ModBasei | Search... |
MobiDB: a database of protein disorder and mobility annotations More...MobiDBi | Search... |
Protein-protein interaction databases
The Biological General Repository for Interaction Datasets (BioGrid) More...BioGridi | 107956, 1 interactor |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000292427 |
Chemistry databases
BindingDB database of measured binding affinities More...BindingDBi | P15538 |
ChEMBL database of bioactive drug-like small molecules More...ChEMBLi | CHEMBL1908 |
Drug and drug target database More...DrugBanki | DB04630 Aldosterone DB00501 Cimetidine DB00257 Clotrimazole DB00292 Etomidate DB00196 Fluconazole DB00741 Hydrocortisone DB01026 Ketoconazole DB01233 Metoclopramide DB01011 Metyrapone DB01388 Mibefradil DB01110 Miconazole DB00648 Mitotane DB00252 Phenytoin DB00421 Spironolactone |
IUPHAR/BPS Guide to PHARMACOLOGY More...GuidetoPHARMACOLOGYi | 1359 |
SwissLipids knowledge resource for lipid biology More...SwissLipidsi | SLP:000001197 |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | P15538 |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | P15538 |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | CYP11B1 |
Domain mapping of disease mutations (DMDM) More...DMDMi | 215274267 |
Proteomic databases
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | P15538 |
PeptideAtlas More...PeptideAtlasi | P15538 |
PRoteomics IDEntifications database More...PRIDEi | P15538 |
ProteomicsDB human proteome resource More...ProteomicsDBi | 53185 53186 [P15538-2] |
Protocols and materials databases
| Structural Biology Knowledgebase | Search... |
Genome annotation databases
Ensembl eukaryotic genome annotation project More...Ensembli | ENST00000292427; ENSP00000292427; ENSG00000160882 [P15538-1] ENST00000517471; ENSP00000428043; ENSG00000160882 [P15538-2] |
Database of genes from NCBI RefSeq genomes More...GeneIDi | 1584 |
KEGG: Kyoto Encyclopedia of Genes and Genomes More...KEGGi | hsa:1584 |
UCSC genome browser More...UCSCi | uc003yxi.4 human [P15538-1] |
Organism-specific databases
Comparative Toxicogenomics Database More...CTDi | 1584 |
DisGeNET More...DisGeNETi | 1584 |
Eukaryotic Pathogen Database Resources More...EuPathDBi | HostDB:ENSG00000160882.11 |
GeneCards: human genes, protein and diseases More...GeneCardsi | CYP11B1 |
Human Gene Nomenclature Database More...HGNCi | HGNC:2591 CYP11B1 |
Human Protein Atlas More...HPAi | HPA049171 HPA056348 HPA057752 |
MalaCards human disease database More...MalaCardsi | CYP11B1 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 103900 phenotype 202010 phenotype 610613 gene |
neXtProt; the human protein knowledge platform More...neXtProti | NX_P15538 |
Open Targets More...OpenTargetsi | ENSG00000160882 |
Orphanet; a database dedicated to information on rare diseases and orphan drugs More...Orphaneti | 90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency 403 Familial hyperaldosteronism type I |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA133 |
GenAtlas: human gene database More...GenAtlasi | Search... |
Phylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | KOG0159 Eukaryota COG2124 LUCA |
Ensembl GeneTree More...GeneTreei | ENSGT00900000140779 |
The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms More...HOGENOMi | HOG000013161 |
The HOVERGEN Database of Homologous Vertebrate Genes More...HOVERGENi | HBG051098 |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | P15538 |
KEGG Orthology (KO) More...KOi | K00497 |
Database for complete collections of gene phylogenies More...PhylomeDBi | P15538 |
TreeFam database of animal gene trees More...TreeFami | TF105094 |
Enzyme and pathway databases
BioCyc Collection of Pathway/Genome Databases More...BioCyci | MetaCyc:HS08547-MONOMER |
BRENDA Comprehensive Enzyme Information System More...BRENDAi | 1.14.15.4 2681 |
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-HSA-194002 Glucocorticoid biosynthesis R-HSA-211976 Endogenous sterols R-HSA-5579017 Defective CYP11B1 causes Adrenal hyperplasia 4 (AH4) |
SIGNOR Signaling Network Open Resource More...SIGNORi | P15538 |
Miscellaneous databases
ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data More...ChiTaRSi | CYP11B1 human |
The Gene Wiki collection of pages on human genes and proteins More...GeneWikii | Steroid_11-beta-hydroxylase |
Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens More...GenomeRNAii | 1584 |
Protein Ontology More...PROi | PR:P15538 |
The Stanford Online Universal Resource for Clones and ESTs More...SOURCEi | Search... |
Gene expression databases
Bgee dataBase for Gene Expression Evolution More...Bgeei | ENSG00000160882 |
CleanEx database of gene expression profiles More...CleanExi | HS_CYP11B1 |
ExpressionAtlas, Differential and Baseline Expression More...ExpressionAtlasi | P15538 baseline and differential |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | P15538 HS |
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 IPR002399 Cyt_P450_mitochondrial 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 | PR00408 MITP450 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 |
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 namei | C11B1_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>Accessioni | P15538Primary (citable) accession number: P15538 Secondary accession number(s): Q14095 , Q4VAQ8, Q4VAQ9, Q9UML2 | |
| <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 historyi | Integrated into UniProtKB/Swiss-Prot: | April 1, 1990 |
| Last sequence update: | November 25, 2008 | |
| Last modified: | June 20, 2018 | |
| This is version 195 of the entry and version 5 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 statusi | Reviewed (UniProtKB/Swiss-Prot) | |
| Annotation program | Chordata Protein Annotation Program | |
| Disclaimer | Any 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
<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>Keywords - Technical termi
Complete proteome, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families
