Reactome | UniProt:Q16850 CYP51A1

Schema > ReferenceGeneProduct > Entries

UniProt:Q16850 CYP51A1 Show undefined attributes

chain	chain:1-509
checksum	F9145DDB65F94091
comment	FUNCTION Sterol 14alpha-demethylase that plays a critical role in the cholesterol biosynthesis pathway, being cholesterol the major sterol component in mammalian membranes as well as a precursor for bile acid and steroid hormone synthesis (PubMed:20149798, PubMed:8619637, PubMed:9559662). Cytochrome P450 monooxygenase that catalyzes the three-step oxidative removal of the 14alpha-methyl group (C-32) of sterols such as lanosterol (lanosta-8,24-dien-3beta-ol) and 24,25-dihydrolanosterol (DHL) in the form of formate, and converts the sterols to 4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol and 4,4-dimethyl-8,14-cholestadien-3beta-ol, respectively, which are intermediates of cholesterol biosynthesis (PubMed:20149798, PubMed:8619637, PubMed:9559662). Can also demethylate substrates not intrinsic to mammals, such as eburicol (24-methylene-24,25-dihydrolanosterol), but at a lower rate than DHL (PubMed:9559662).CATALYTIC ACTIVITY a 14alpha-methyl steroid + 3 reduced [NADPH--hemoprotein reductase] + 3 O2 = a Delta(14) steroid + formate + 3 oxidized [NADPH--hemoprotein reductase] + 4 H2O + 4 H(+)CATALYTIC ACTIVITY lanosterol + 3 reduced [NADPH--hemoprotein reductase] + 3 O2 = 4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol + formate + 3 oxidized [NADPH--hemoprotein reductase] + 4 H2O + 4 H(+)CATALYTIC ACTIVITY 24,25-dihydrolanosterol + 3 reduced [NADPH--hemoprotein reductase] + 3 O2 = 4,4-dimethyl-8,14-cholestadien-3beta-ol + formate + 3 oxidized [NADPH--hemoprotein reductase] + 4 H2O + 4 H(+)CATALYTIC ACTIVITY a 14alpha-methyl steroid + reduced [NADPH--hemoprotein reductase] + O2 = a 14alpha-hydroxymethyl steroid + oxidized [NADPH--hemoprotein reductase] + H2O + H(+)CATALYTIC ACTIVITY a 14alpha-hydroxymethyl steroid + reduced [NADPH--hemoprotein reductase] + O2 = a 14alpha-formyl steroid + oxidized [NADPH--hemoprotein reductase] + 2 H2O + H(+)CATALYTIC ACTIVITY a 14alpha-formyl steroid + reduced [NADPH--hemoprotein reductase] + O2 = a Delta(14) steroid + formate + oxidized [NADPH--hemoprotein reductase] + H2O + 2 H(+)CATALYTIC ACTIVITY lanosterol + reduced [NADPH--hemoprotein reductase] + O2 = 32-hydroxylanosterol + oxidized [NADPH--hemoprotein reductase] + H2O + H(+)CATALYTIC ACTIVITY 32-hydroxylanosterol + reduced [NADPH--hemoprotein reductase] + O2 = 32-oxolanosterol + oxidized [NADPH--hemoprotein reductase] + 2 H2O + H(+)CATALYTIC ACTIVITY 32-oxolanosterol + reduced [NADPH--hemoprotein reductase] + O2 = 4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol + formate + oxidized [NADPH--hemoprotein reductase] + H2O + 2 H(+)CATALYTIC ACTIVITY 24,25-dihydrolanosterol + reduced [NADPH--hemoprotein reductase] + O2 = 32-hydroxy-24,25-dihydrolanosterol + oxidized [NADPH--hemoprotein reductase] + H2O + H(+)CATALYTIC ACTIVITY 32-hydroxy-24,25-dihydrolanosterol + reduced [NADPH--hemoprotein reductase] + O2 = 32-oxo-24,25-dihydrolanosterol + oxidized [NADPH--hemoprotein reductase] + 2 H2O + H(+)CATALYTIC ACTIVITY 32-oxo-24,25-dihydrolanosterol + reduced [NADPH--hemoprotein reductase] + O2 = 4,4-dimethyl-8,14-cholestadien-3beta-ol + formate + oxidized [NADPH--hemoprotein reductase] + H2O + 2 H(+)COFACTOR Inhibited by azalanstat. Inhibited by azole antifungal agents ketoconazole, itraconazole and fluconazole.BIOPHYSICOCHEMICAL PROPERTIES Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 1/6.SUBCELLULAR LOCATION Ubiquitously expressed with highest levels in testis, ovary, adrenal, prostate, liver, kidney and lung.PTM Ubiquitinated by MARCHF6, leading to proteasomal degradation.SIMILARITY Belongs to the cytochrome P450 family.CAUTION It is uncertain whether Met-1 or Met-7 is the initiator.SEQUENCE CAUTION Truncated N-terminus.
crossReference	[DatabaseIdentifier:11480242] ENSEMBL:ENSG00000001630 [DatabaseIdentifier:12818182] ZINC - World Drugs:CP51A_HUMAN [DatabaseIdentifier:12814526] ZINC target:Q16850 [DatabaseIdentifier:12811214] ZINC - Substances:CP51A_HUMAN [DatabaseIdentifier:12808646] ZINC - Predictions - Purchasable:CP51A_HUMAN [DatabaseIdentifier:12805610] ZINC - FDA approved:CP51A_HUMAN [DatabaseIdentifier:11580836] ENSEMBL:ENSP00000003100 [DatabaseIdentifier:11580837] ENSEMBL:ENSP00000406757 [DatabaseIdentifier:11703536] ENSEMBL:ENST00000450723 [DatabaseIdentifier:11703535] ENSEMBL:ENST00000003100 [DatabaseIdentifier:11779170] Guide to Pharmacology - Targets:1374 [DatabaseIdentifier:11792771] GeneCards:CYP51A1 [DatabaseIdentifier:11829510] HMDB Protein:HMDBP00265 [DatabaseIdentifier:11845760] HPA:ENSG00000001630-CYP51A1 [DatabaseIdentifier:12130410] OpenTargets:ENSG00000001630 [DatabaseIdentifier:12135150] Orphanet:CYP51A1 [DatabaseIdentifier:12214979] PDB:6Q2T [DatabaseIdentifier:12214977] PDB:8SS0 [DatabaseIdentifier:12214976] PDB:3JUV [DatabaseIdentifier:12214978] PDB:3LD6 [DatabaseIdentifier:12214981] PDB:8SBI [DatabaseIdentifier:12214983] PDB:3JUS [DatabaseIdentifier:12214980] PDB:8YQO [DatabaseIdentifier:12214982] PDB:4UHI [DatabaseIdentifier:12214985] PDB:6UEZ [DatabaseIdentifier:12214984] PDB:4UHL [DatabaseIdentifier:12273351] PRO:Q16850 [DatabaseIdentifier:12290614] Pharos - Targets:Q16850 [DatabaseIdentifier:12385273] RefSeq:NP_001139624.1 [DatabaseIdentifier:12385272] RefSeq:NP_000777.1
databaseName	UniProt
dbId	52652
description	recommendedName: fullName evidence="8"Lanosterol 14-alpha demethylase shortName: LDM ecNumber evidence="3 5 6"1.14.14.154 alternativeName: CYPLI alternativeName: Cytochrome P450 51A1 shortName: CYP51A1 alternativeName: Cytochrome P450-14DM shortName: Cytochrome P45014DM alternativeName: Cytochrome P450LI alternativeName: Sterol 14-alpha demethylase
displayName	UniProt:Q16850 CYP51A1
geneName	CYP51A1 CYP51
identifier	Q16850
isSequenceChanged	false
keyword	3D-structure Alternative splicing Cholesterol biosynthesis Cholesterol metabolism Endoplasmic reticulum Heme Iron Lipid biosynthesis Lipid metabolism Membrane Metal-binding Microsome Monooxygenase Oxidoreductase Proteomics identification Reference proteome Steroid biosynthesis Steroid metabolism Sterol biosynthesis Sterol metabolism Transmembrane Transmembrane helix Ubl conjugation
modified	[InstanceEdit:9963647] Weiser, Joel, 2025-08-15
moleculeType	Protein
name	CYP51A1
otherIdentifier	11722563_x_at 11722564_at 1595 17059628 202314_PM_at 202314_at 216607_PM_s_at 216607_s_at 2684442 2684445 2684446 2684447 2684448 2684449 2684450 2684453 3060993 3060995 3060998 3060999 3061000 3061001 3061002 3061003 3061004 3061005 3061006 3061007 3061008 3061009 3061010 3061011 3061016 3061017 3061018 3061019 3061020 3061021 33389_at 3507516 3507518 3507519 3507520 3507522 3507524 3507526 8140864 8180268 A_23_P257716 GE523206 GE61171 GO:0004497 GO:0005506 GO:0005783 GO:0005789 GO:0006629 GO:0006694 GO:0006695 GO:0008202 GO:0008203 GO:0008398 GO:0016020 GO:0016125 GO:0016126 GO:0016491 GO:0016705 GO:0016712 GO:0020037 GO:0033488 GO:0042177 GO:0044283 GO:0046872 GO:0050709 GO:1900222 HMNXSV003043512 Hs.226213.1.A1_3p_a_at ILMN_1664718 PH_hs_0033255 TC07003059.hg TC07003361.hg U23942_at g4503242_3p_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-194721] CYP51A1 [endoplasmic reticulum membrane] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:12692567] UCSC:Q16850 CYP51A1 [ReferenceDNASequence:ensembl:ENSG00000001630] ENSEMBL:ENSG00000001630 CYP51A1 [ReferenceDNASequence:11345820] BioGPS Gene:1595 CYP51A1 [ReferenceDNASequence:11393057] COSMIC - genes:CYP51A1 CYP51A1 [ReferenceDNASequence:11421047] CTD Gene:1595 CYP51A1 [ReferenceDNASequence:11428978] dbSNP Gene:1595 CYP51A1 [ReferenceDNASequence:11824455] HGNC:2649 CYP51A1 [ReferenceDNASequence:11886045] KEGG:hsa:1595 CYP51A1 [ReferenceDNASequence:11975609] Monarch:1595 CYP51A1 [ReferenceDNASequence:12059702] NCBI Gene:1595 CYP51A1 [ReferenceDNASequence:12114974] OMIM:601637 CYP51A1
referenceTranscript	[ReferenceRNASequence:12567065] RefSeq:NM_000786.4 CYP51A1 [ReferenceRNASequence:12567066] RefSeq:NM_001146152.2 CYP51A1
schemaClass	ReferenceGeneProduct
secondaryIdentifier	CP51A_HUMAN A0A0C4DFL7 A4D1F8 B2RAI4 B4DJ55 O00770 O00772 Q16784 Q8N1A8 Q99868
sequenceLength	509
species	[Species:48887] Homo sapiens
stId	uniprot:Q16850
url	http://purl.uniprot.org/uniprot/Q16850

Referrals

(referenceEntity)

[EntityWithAccessionedSequence:R-HSA-194721] CYP51A1 [endoplasmic reticulum membrane]

(interactor)

Cite Us!