Lanosterol 14 alpha-demethylase

CYP51A1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3JUS, 3JUV, 3LD6, 4UHI, 4UHL
Identifiers
Aliases	CYP51A1, CP51, CYP51, CYPL1, LDM, P450-14DM, P450L1, cytochrome P450 family 51 subfamily A member 1
External IDs	OMIM: 601637; MGI: 106040; HomoloGene: 55488; GeneCards: CYP51A1; OMA:CYP51A1 - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q21.2 Start 92,084,987 bp[1] End 92,134,803 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 A1|5 2.3 cM Start 4,131,145 bp[2] End 4,154,746 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone islet of Langerhans ganglionic eminence corpus callosum C1 segment right testis duodenum left testis liver superior frontal gyrus Top expressed in tail of embryo genital tubercle proximal tubule right kidney skin of external ear superior cervical ganglion human kidney neural tube ventricular zone sciatic nerve More reference expression data BioGPS n/a
Gene ontology Molecular function iron ion binding metal ion binding monooxygenase activity heme binding oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen oxidoreductase activity sterol 14-demethylase activity Cellular component integral component of membrane organelle membrane endoplasmic reticulum membrane membrane intracellular membrane-bounded organelle plasma membrane endoplasmic reticulum Biological process steroid metabolic process sterol biosynthetic process lipid metabolism cholesterol metabolic process cholesterol biosynthetic process via 24,25-dihydrolanosterol sterol metabolic process cholesterol biosynthetic process steroid biosynthetic process demethylation regulation of cholesterol biosynthetic process negative regulation of protein catabolic process negative regulation of protein secretion negative regulation of amyloid-beta clearance Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1595 13121 Ensembl ENSG00000001630 ENSMUSG00000001467 UniProt Q16850 Q8K0C4 RefSeq (mRNA) NM_001146152 NM_000786 NM_020010 RefSeq (protein) NP_000777 NP_001139624 NP_064394 Location (UCSC) Chr 7: 92.08 – 92.13 Mb Chr 5: 4.13 – 4.15 Mb PubMed search [3] [4]
Wikidata
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Lanosterol 14α-demethylase (CYP51A1) is the animal version of a cytochrome P450 enzyme that is involved in the conversion of lanosterol to 4,4-dimethylcholesta-8(9),14,24-trien-3β-ol.^[5] The cytochrome P450 isoenzymes are a conserved group of proteins that serve as key players in the metabolism of organic substances and the biosynthesis of important steroids, lipids, and vitamins in eukaryotes.^[6] As a member of this family, lanosterol 14α-demethylase is responsible for an essential step in the biosynthesis of sterols. In particular, this protein catalyzes the removal of the C-14α-methyl group from lanosterol.^[6] This demethylation step is regarded as the initial checkpoint in the transformation of lanosterol to other sterols that are widely used within the cell.^[6]