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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).
Cancer-related genes Disease related genes Enzymes FDA approved drug targets Human disease related genes Metabolic proteins Plasma 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
7
Cytoband
q22.1
Chromosome location (bp)
99756960 - 99784248
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 involved in the metabolism of sterols, steroid hormones, retinoids and fatty acids 1,2,3,4,5,6,7,8,9,10,11. 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 cytochrome P450 reductase (NADPH--hemoprotein reductase). Catalyzes the hydroxylation of carbon-hydrogen bonds 12,13,14,15,16,17,18. Exhibits high catalytic activity for the formation of hydroxyestrogens from estrone (E1) and 17beta-estradiol (E2), namely 2-hydroxy E1 and E2, as well as D-ring hydroxylated E1 and E2 at the C-16 position 19,20,21. Plays a role in the metabolism of androgens, particularly in oxidative deactivation of testosterone 22,23,24,25. Metabolizes testosterone to less biologically active 2beta- and 6beta-hydroxytestosterones 26,27,28. Contributes to the formation of hydroxycholesterols (oxysterols), particularly A-ring hydroxylated cholesterol at the C-4beta position, and side chain hydroxylated cholesterol at the C-25 position, likely contributing to cholesterol degradation and bile acid biosynthesis 29. Catalyzes bisallylic hydroxylation of polyunsaturated fatty acids (PUFA) 30. Catalyzes the epoxidation of double bonds of PUFA with a preference for the last double bond 31. Metabolizes endocannabinoid arachidonoylethanolamide (anandamide) to 8,9-, 11,12-, and 14,15-epoxyeicosatrienoic acid ethanolamides (EpETrE-EAs), potentially modulating endocannabinoid system signaling 32. Plays a role in the metabolism of retinoids. Displays high catalytic activity for oxidation of all-trans-retinol to all-trans-retinal, a rate-limiting step for the biosynthesis of all-trans-retinoic acid (atRA) 33. Further metabolizes atRA toward 4-hydroxyretinoate and may play a role in hepatic atRA clearance 34. Responsible for oxidative metabolism of xenobiotics. Acts as a 2-exo-monooxygenase for plant lipid 1,8-cineole (eucalyptol) 35. Metabolizes the majority of the administered drugs. Catalyzes sulfoxidation of the anthelmintics albendazole and fenbendazole 36. Hydroxylates antimalarial drug quinine 37. Acts as a 1,4-cineole 2-exo-monooxygenase 38. Also involved in vitamin D catabolism and calcium homeostasis. Catalyzes the inactivation of the active hormone calcitriol (1-alpha,25-dihydroxyvitamin D(3)) 39....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 that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by glucocorticoids and some pharmacological agents. This enzyme is involved in the metabolism of approximately half the drugs in use today, including acetaminophen, codeine, cyclosporin A, diazepam, erythromycin, and chloroquine. The enzyme also metabolizes some steroids and carcinogens. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Previously another CYP3A gene, CYP3A3, was thought to exist; however, it is now thought that this sequence represents a transcript variant of CYP3A4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2020]...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 ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Metabolic proteins Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 2TM proteins predicted by MDM Human disease related genes Congenital disorders of metabolism Congenital disorders of cofactor/vitamin metabolism Protein evidence (Ezkurdia et al 2014)
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GO:0004497[monooxygenase activity] GO:0005506[iron ion binding] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0016020[membrane] GO:0016491[oxidoreductase activity] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0016712[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen] GO:0020037[heme binding] GO:0043231[intracellular membrane-bounded organelle] GO:0046872[metal ion binding]
Metabolic proteins Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 3TM proteins predicted by MDM Human disease related genes Congenital disorders of metabolism Congenital disorders of cofactor/vitamin metabolism Protein evidence (Ezkurdia et al 2014)
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GO:0004497[monooxygenase activity] GO:0005506[iron ion binding] GO:0016020[membrane] GO:0016491[oxidoreductase activity] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0020037[heme binding] GO:0046872[metal ion binding]
Metabolic proteins MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Phobius predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of cofactor/vitamin metabolism Protein evidence (Ezkurdia et al 2014)
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GO:0004497[monooxygenase activity] GO:0005506[iron ion binding] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0020037[heme binding]
Enzymes ENZYME proteins Oxidoreductases Metabolic proteins MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Phobius predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Congenital disorders of metabolism Congenital disorders of cofactor/vitamin 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:0002933[lipid hydroxylation] GO:0004497[monooxygenase activity] GO:0005496[steroid binding] GO:0005506[iron ion binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0006629[lipid metabolic process] GO:0006631[fatty acid metabolic process] GO:0006694[steroid biosynthetic process] GO:0006706[steroid catabolic process] GO:0006805[xenobiotic metabolic process] GO:0008202[steroid metabolic process] GO:0008203[cholesterol metabolic process] GO:0008209[androgen metabolic process] GO:0008210[estrogen metabolic process] GO:0008395[steroid hydroxylase activity] GO:0008401[retinoic acid 4-hydroxylase activity] GO:0009822[alkaloid catabolic process] GO:0016020[membrane] GO:0016098[monoterpenoid metabolic process] GO:0016491[oxidoreductase activity] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0016712[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen] GO:0019825[oxygen binding] GO:0019899[enzyme binding] GO:0020037[heme binding] GO:0030343[vitamin D3 25-hydroxylase activity] GO:0034875[caffeine oxidase activity] GO:0036378[calcitriol biosynthetic process from calciol] GO:0042178[xenobiotic catabolic process] GO:0042359[vitamin D metabolic process] GO:0042369[vitamin D catabolic process] GO:0042572[retinol metabolic process] GO:0042573[retinoic acid metabolic process] GO:0042759[long-chain fatty acid biosynthetic process] GO:0043231[intracellular membrane-bounded organelle] GO:0046222[aflatoxin metabolic process] GO:0046483[heterocycle metabolic process] GO:0046872[metal ion binding] GO:0050591[quinine 3-monooxygenase activity] GO:0050649[testosterone 6-beta-hydroxylase activity] GO:0062181[1-alpha,25-dihydroxyvitamin D3 23-hydroxylase activity] GO:0062187[anandamide 8,9 epoxidase activity] GO:0062188[anandamide 11,12 epoxidase activity] GO:0062189[anandamide 14,15 epoxidase activity] GO:0070330[aromatase activity] GO:0070576[vitamin D 24-hydroxylase activity] GO:0070989[oxidative demethylation] GO:0101020[estrogen 16-alpha-hydroxylase activity] GO:0101021[estrogen 2-hydroxylase activity] GO:0102320[1,8-cineole 2-exo-monooxygenase activity]
Metabolic proteins Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 2TM proteins predicted by MDM Human disease related genes Congenital disorders of metabolism Congenital disorders of cofactor/vitamin metabolism Protein evidence (Ezkurdia et al 2014)
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GO:0004497[monooxygenase activity] GO:0005506[iron ion binding] GO:0016020[membrane] GO:0016491[oxidoreductase activity] GO:0016705[oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0020037[heme binding] GO:0046872[metal ion binding]
The Human Protein Atlas project is funded
