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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 Human disease related genes Metabolic proteins Potential drug targets
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
20
Cytoband
q13.2
Chromosome location (bp)
54153446 - 54173986
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 with a key role in vitamin D catabolism and calcium homeostasis. Via C24- and C23-oxidation pathways, catalyzes the inactivation of both the vitamin D precursor calcidiol (25-hydroxyvitamin D(3)) and the active hormone calcitriol (1-alpha,25-dihydroxyvitamin D(3)) 1,2,3,4,5,6. With initial hydroxylation at C-24 (via C24-oxidation pathway), performs a sequential 6-step oxidation of calcitriol leading to the formation of the biliary metabolite calcitroic acid 7,8. With initial hydroxylation at C-23 (via C23-oxidation pathway), catalyzes sequential oxidation of calcidiol leading to the formation of 25(OH)D3-26,23-lactone as end product 9,10. Preferentially hydroxylates at C-25 other vitamin D active metabolites, such as CYP11A1-derived secosteroids 20S-hydroxycholecalciferol and 20S,23-dihydroxycholecalciferol 11. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via FDXR/adrenodoxin reductase and FDX1/adrenodoxin 12....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.
Lipid metabolism
Ligand (UniProt)i
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 mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [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 Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001649[osteoblast differentiation] GO:0004497[monooxygenase activity] GO:0005506[iron ion binding] GO:0005739[mitochondrion] GO:0005743[mitochondrial inner membrane] GO:0006629[lipid metabolic process] GO:0006766[vitamin metabolic process] GO:0008403[25-hydroxycholecalciferol-24-hydroxylase activity] GO:0010430[fatty acid omega-oxidation] GO:0016491[oxidoreductase activity] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0020037[heme binding] GO:0030342[1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity] GO:0033280[response to vitamin D] GO:0042359[vitamin D metabolic process] GO:0042369[vitamin D catabolic process] GO:0046872[metal ion binding] GO:0062180[25-hydroxycholecalciferol-23-hydroxylase activity] GO:0062181[1-alpha,25-dihydroxyvitamin D3 23-hydroxylase activity] GO:0070561[vitamin D receptor signaling pathway] GO:0070576[vitamin D 24-hydroxylase activity] GO:0070643[vitamin D 25-hydroxylase activity] GO:0071305[cellular response to vitamin D]
Enzymes ENZYME proteins Oxidoreductases Metabolic proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001649[osteoblast differentiation] GO:0004497[monooxygenase activity] GO:0005506[iron ion binding] GO:0005739[mitochondrion] GO:0005743[mitochondrial inner membrane] GO:0006629[lipid metabolic process] GO:0006766[vitamin metabolic process] GO:0008403[25-hydroxycholecalciferol-24-hydroxylase activity] GO:0010430[fatty acid omega-oxidation] GO:0016491[oxidoreductase activity] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0020037[heme binding] GO:0030342[1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity] GO:0033280[response to vitamin D] GO:0042359[vitamin D metabolic process] GO:0042369[vitamin D catabolic process] GO:0046872[metal ion binding] GO:0062180[25-hydroxycholecalciferol-23-hydroxylase activity] GO:0062181[1-alpha,25-dihydroxyvitamin D3 23-hydroxylase activity] GO:0070561[vitamin D receptor signaling pathway] GO:0070643[vitamin D 25-hydroxylase activity]
Enzymes ENZYME proteins Oxidoreductases Metabolic proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001649[osteoblast differentiation] GO:0004497[monooxygenase activity] GO:0005506[iron ion binding] GO:0005739[mitochondrion] GO:0005743[mitochondrial inner membrane] GO:0006629[lipid metabolic process] GO:0006766[vitamin metabolic process] GO:0008403[25-hydroxycholecalciferol-24-hydroxylase activity] GO:0010430[fatty acid omega-oxidation] GO:0016491[oxidoreductase activity] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0020037[heme binding] GO:0030342[1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity] GO:0033280[response to vitamin D] GO:0042359[vitamin D metabolic process] GO:0042369[vitamin D catabolic process] GO:0046872[metal ion binding] GO:0062180[25-hydroxycholecalciferol-23-hydroxylase activity] GO:0062181[1-alpha,25-dihydroxyvitamin D3 23-hydroxylase activity] GO:0070561[vitamin D receptor signaling pathway] GO:0070643[vitamin D 25-hydroxylase activity]