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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes FDA approved drug targets Human disease related genes Metabolic proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
8
Cytoband
q24.3
Chromosome location (bp)
142910559 - 142917843
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
A cytochrome P450 monooxygenase that catalyzes the biosynthesis of aldosterone, the main mineralocorticoid in the human body responsible for salt and water homeostasis, thus involved in blood pressure regulation, arterial hypertension, and the development of heart failure 1,2,3,4,5,6,7,8,9,10. Catalyzes three sequential oxidative reactions of 11-deoxycorticosterone (21-hydroxyprogesterone), namely 11-beta hydroxylation, followed by two successive oxidations at C18 yielding 18-hydroxy and then 18-oxo intermediates (that would not leave the enzyme active site during the consecutive hydroxylation reactions), ending with the formation of aldosterone 11,12,13,14,15,16,17,18. Can also produce 18-hydroxycortisol and 18-oxocortisol, derived from successive oxidations of cortisol at C18, normally found at very low levels, but significantly increased in primary aldosteronism, the most common form of secondary hypertension 19,20. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin) 21,22,23,24. Could also be involved in the androgen metabolic pathway (Probable)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Monooxygenase, Oxidoreductase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Heme, Iron, Metal-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Oxidoreductases Metabolic proteins MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Phobius predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cardiovascular diseases Hypertensive diseases Endocrine and metabolic diseases Adrenal gland diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0002017[regulation of blood volume by renal aldosterone] GO:0003091[renal water homeostasis] GO:0004497[monooxygenase activity] GO:0004507[steroid 11-beta-monooxygenase activity] GO:0005506[iron ion binding] GO:0005739[mitochondrion] GO:0005743[mitochondrial inner membrane] GO:0006629[lipid metabolic process] GO:0006694[steroid biosynthetic process] GO:0006700[C21-steroid hormone biosynthetic process] GO:0006704[glucocorticoid biosynthetic process] GO:0006705[mineralocorticoid biosynthetic process] GO:0008202[steroid metabolic process] GO:0008203[cholesterol metabolic process] GO:0008395[steroid hydroxylase activity] GO:0016020[membrane] GO:0016125[sterol metabolic process] GO:0016491[oxidoreductase activity] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0020037[heme binding] GO:0032342[aldosterone biosynthetic process] GO:0032870[cellular response to hormone stimulus] GO:0034650[cortisol metabolic process] GO:0034651[cortisol biosynthetic process] GO:0035865[cellular response to potassium ion] GO:0046872[metal ion binding] GO:0047783[corticosterone 18-monooxygenase activity] GO:0055075[potassium ion homeostasis] GO:0055078[sodium ion homeostasis] GO:0071375[cellular response to peptide hormone stimulus]
The Human Protein Atlas project is funded
