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Aliases for CYP51A1 Gene

Aliases for CYP51A1 Gene

  • Cytochrome P450 Family 51 Subfamily A Member 1 2 3 5
  • Cytochrome P450, Family 51, Subfamily A, Polypeptide 1 2 3
  • Cytochrome P450, 51 (Lanosterol 14-Alpha-Demethylase) 2 3
  • Sterol 14-Alpha Demethylase 3 4
  • Cytochrome P450 51A1 3 4
  • Cytochrome P450-14DM 3 4
  • Cytochrome P45014DM 3 4
  • Cytochrome P450LI 3 4
  • EC 4 63
  • CYP51 3 4
  • CYPLI 3 4
  • LDM 3 4
  • Lanosterol 14-Alpha-Demethylase 3
  • P450-14DM 3
  • P450L1 3
  • CYPL1 3
  • CP51 3

External Ids for CYP51A1 Gene

Previous HGNC Symbols for CYP51A1 Gene

  • CYP51

Previous GeneCards Identifiers for CYP51A1 Gene

  • GC07M090277
  • GC07M091339
  • GC07M091354
  • GC07M091355
  • GC07M091387
  • GC07M091579
  • GC07M091741
  • GC07M086348

Summaries for CYP51A1 Gene

Entrez Gene Summary for CYP51A1 Gene

  • 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 endoplasmic reticulum protein participates in the synthesis of cholesterol by catalyzing the removal of the 14alpha-methyl group from lanosterol. Homologous genes are found in all three eukaryotic phyla, fungi, plants, and animals, suggesting that this is one of the oldest cytochrome P450 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

GeneCards Summary for CYP51A1 Gene

CYP51A1 (Cytochrome P450 Family 51 Subfamily A Member 1) is a Protein Coding gene. Diseases associated with CYP51A1 include Antley-Bixler Syndrome and Chagas Disease. Among its related pathways are Terpenoid backbone biosynthesis and Regulation of cholesterol biosynthesis by SREBP (SREBF). GO annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP26C1.

UniProtKB/Swiss-Prot for CYP51A1 Gene

  • Catalyzes C14-demethylation of lanosterol; it transforms lanosterol into 4,4-dimethyl cholesta-8,14,24-triene-3-beta-ol.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP51A1 Gene

Genomics for CYP51A1 Gene

Regulatory Elements for CYP51A1 Gene

Enhancers for CYP51A1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CYP51A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CYP51A1 Gene

92,112,149 bp from pter
92,142,952 bp from pter
30,804 bases
Minus strand

Genomic View for CYP51A1 Gene

Genes around CYP51A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP51A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP51A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP51A1 Gene

Proteins for CYP51A1 Gene

  • Protein details for CYP51A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Lanosterol 14-alpha demethylase
    Protein Accession:
    Secondary Accessions:
    • A4D1F8
    • B2RAI4
    • B4DJ55
    • O00770
    • O00772
    • Q16784
    • Q8N1A8
    • Q99868

    Protein attributes for CYP51A1 Gene

    503 amino acids
    Molecular mass:
    56806 Da
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available
    • Sequence=AAB39951.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAB46356.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH32322.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA09512.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAG36881.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAL24154.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAW76858.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CYP51A1 Gene

    Alternative splice isoforms for CYP51A1 Gene


neXtProt entry for CYP51A1 Gene

Proteomics data for CYP51A1 Gene at MOPED

Post-translational modifications for CYP51A1 Gene

  • Ubiquitination at Lys 141, Lys 160, Lys 261, Lys 266, and Lys 436
  • Modification sites at PhosphoSitePlus

Other Protein References for CYP51A1 Gene

Antibody Products

Domains & Families for CYP51A1 Gene

Gene Families for CYP51A1 Gene

Suggested Antigen Peptide Sequences for CYP51A1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the cytochrome P450 family.
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP51A1: view

Function for CYP51A1 Gene

Molecular function for CYP51A1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
A 14-alpha-methylsteroid + 3 O(2) + 3 NADPH = a Delta(14)-steroid + formate + 3 NADP(+) + 4 H(2)O.
UniProtKB/Swiss-Prot Function:
Catalyzes C14-demethylation of lanosterol; it transforms lanosterol into 4,4-dimethyl cholesta-8,14,24-triene-3-beta-ol.

Enzyme Numbers (IUBMB) for CYP51A1 Gene

Gene Ontology (GO) - Molecular Function for CYP51A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008398 sterol 14-demethylase activity IDA,TAS --
genes like me logo Genes that share ontologies with CYP51A1: view
genes like me logo Genes that share phenotypes with CYP51A1: view

Animal Models for CYP51A1 Gene

MGI Knock Outs for CYP51A1:

Animal Model Products

  • Taconic Biosciences Mouse Models for CYP51A1

CRISPR Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CYP51A1 Gene

Localization for CYP51A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP51A1 Gene

Endoplasmic reticulum membrane. Microsome membrane.

Subcellular locations from

Jensen Localization Image for CYP51A1 Gene COMPARTMENTS Subcellular localization image for CYP51A1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
extracellular 2
mitochondrion 2
cytosol 1
golgi apparatus 1
lysosome 1
nucleus 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CYP51A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with CYP51A1: view

Pathways & Interactions for CYP51A1 Gene

genes like me logo Genes that share pathways with CYP51A1: view

UniProtKB/Swiss-Prot Q16850-CP51A_HUMAN

  • Pathway: Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 1/6.

Gene Ontology (GO) - Biological Process for CYP51A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006695 cholesterol biosynthetic process TAS --
GO:0033488 cholesterol biosynthetic process via 24,25-dihydrolanosterol IBA --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with CYP51A1: view

No data available for SIGNOR curated interactions for CYP51A1 Gene

Drugs & Compounds for CYP51A1 Gene

(22) Drugs for CYP51A1 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Itraconazole Approved, Investigational Pharma Target, inhibitor 143
Sertaconazole Approved Pharma Enzyme, inhibitor 2
Tioconazole Approved Pharma Target, inhibitor 0
Ketoconazole Approved, Investigational Pharma Pore Blocker, Enzyme, inhibitor Inhibitor of cyclosporine oxidase and testosterone 6 beta-hydroxylase, Cytochrome P450c17 inhibitor 174
Posaconazole Approved, Investigational Pharma Sterol C14ɑ demethylase inhibitor 50

(24) Additional Compounds for CYP51A1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
  • 4,4-Dimethyl-14a-hydroxymethyl-5a-cholesta-8,24-dien-3b-ol
  • 4,4-Dimethyl-14alpha-hydroxymethyl-5alpha-cholesta-8,24-dien-3beta-ol
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
  • (3beta,5alpha)-4,4-dimethyl-Cholesta-8,14,24-trien-3-ol
  • (3beta,5alpha)-4,4-Dimethylcholesta-8,14,24-trien-3-ol
  • 4,4'-Dimethyl cholesta-8,14,24-triene-3-beta-ol
  • 4,4-Dimechol-8,14,24-trienol
  • 4,4-Dimethyl-5-alpha-cholesta-8,14,24-trien-3-beta-ol
Delta 8,14 -Sterol
  • 4-alpha-Methyl-5-alpha-ergosta-8,14,24(28)-trien-3-beta-ol
  • 4a-Methyl-5a-ergosta-8,14,24(28)-trien-3b-ol
  • 4a-Methylergosta-8,14,24(241)-trien-3b-ol
  • 4alpha-Methyl-5alpha-ergosta-8,14,24(28)-trien-3beta-ol
  • delta 8,14 -Sterol

(2) ApexBio Compounds for CYP51A1 Gene

Compound Action Cas Number
Posaconazole Sterol C14ɑ demethylase inhibitor 171228-49-2
Voriconazole CYP51 inhibitor 137234-62-9
genes like me logo Genes that share compounds with CYP51A1: view

Transcripts for CYP51A1 Gene

Unigene Clusters for CYP51A1 Gene

Cytochrome P450, family 51, subfamily A, polypeptide 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CYP51A1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c
SP1: -
SP2: -

Relevant External Links for CYP51A1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CYP51A1 Gene

mRNA expression in normal human tissues for CYP51A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CYP51A1 Gene

This gene is overexpressed in Fetal testis (25.0), Bone (11.7), Fetal Liver (9.1), and Adrenal (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CYP51A1 Gene

SOURCE GeneReport for Unigene cluster for CYP51A1 Gene Hs.417077

mRNA Expression by UniProt/SwissProt for CYP51A1 Gene

Tissue specificity: Ubiquitously expressed with highest levels in testis, ovary, adrenal, prostate, liver, kidney and lung.
genes like me logo Genes that share expression patterns with CYP51A1: view

Protein tissue co-expression partners for CYP51A1 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for CYP51A1 Gene

Orthologs for CYP51A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CYP51A1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia CYP51A1 35
  • 91.15 (n)
  • 93.41 (a)
CYP51A1 36
  • 93 (a)
(Canis familiaris)
Mammalia CYP51A1 35
  • 92.48 (n)
  • 96.54 (a)
CYP51A1 36
  • 96 (a)
(Mus musculus)
Mammalia Cyp51 35
  • 88.53 (n)
  • 91.65 (a)
Cyp51 16
Cyp51 36
  • 91 (a)
(Pan troglodytes)
Mammalia CYP51A1 35
  • 99.67 (n)
  • 99.21 (a)
CYP51A1 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Cyp51 35
  • 87.06 (n)
  • 93.7 (a)
(Monodelphis domestica)
Mammalia CYP51A1 36
  • 81 (a)
(Ornithorhynchus anatinus)
Mammalia CYP51A1 36
  • 85 (a)
(Gallus gallus)
Aves CYP51A1 35
  • 76.73 (n)
  • 85.12 (a)
-- 36
  • 85 (a)
CYP51A1 36
  • 82 (a)
(Anolis carolinensis)
Reptilia CYP51A1 36
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cyp51a1 35
  • 71.87 (n)
  • 81.93 (a)
Str.7211 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.25369 35
(Danio rerio)
Actinopterygii cyp51 35
  • 69.19 (n)
  • 79.41 (a)
wufb66a09 35
cyp51 36
  • 77 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR162W 35
  • 48.19 (n)
  • 40.42 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E03653g 35
  • 49.09 (n)
  • 40.3 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG11 35
  • 48.53 (n)
  • 39.06 (a)
ERG11 36
  • 36 (a)
ERG11 38
thale cress
(Arabidopsis thaliana)
eudicotyledons CYP51G1 35
  • 48.16 (n)
  • 39.74 (a)
(Oryza sativa)
Liliopsida Os11g0525200 35
  • 46.42 (n)
  • 38.18 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg11 35
  • 49.19 (n)
  • 42.25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 12 (a)
Species with no ortholog for CYP51A1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CYP51A1 Gene

Gene Tree for CYP51A1 (if available)
Gene Tree for CYP51A1 (if available)

Paralogs for CYP51A1 Gene

Paralogs for CYP51A1 Gene Pseudogenes for CYP51A1 Gene

genes like me logo Genes that share paralogs with CYP51A1: view

Variants for CYP51A1 Gene

Sequence variations from dbSNP and Humsavar for CYP51A1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_023470 -
rs1135217 -- 92,112,657(-) GAGAC(A/G)GGGGT utr-variant-3-prime
rs6956431 -- 92,120,702(+) ataca(C/T)aaatt intron-variant
rs6956596 -- 92,120,793(+) tacac(G/T)ttgat intron-variant
rs12673910 -- 92,112,649(+) ATAGT(A/G)AAACC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CYP51A1 Gene

Variant ID Type Subtype PubMed ID
nsv888734 CNV Loss 21882294
esv270450 CNV Insertion 20981092
esv272316 CNV Insertion 20981092
nsv5839 CNV Insertion 18451855
nsv888735 CNV Loss 21882294

Variation tolerance for CYP51A1 Gene

Residual Variation Intolerance Score: 25.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.79; 33.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYP51A1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP51A1 Gene

Disorders for CYP51A1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CYP51A1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
antley-bixler syndrome
  • trapezoidocephaly-synostosis syndrome
chagas disease
  • american trypanosomiasis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CYP51A1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CYP51A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CYP51A1 Gene

Publications for CYP51A1 Gene

  1. Structure and mapping of the human lanosterol 14alpha-demethylase gene (CYP51) encoding the cytochrome P450 involved in cholesterol biosynthesis; comparison of exon/intron organization with other mammalian and fungal CYP genes. (PMID: 8975714) Rozman D. … Waterman M.R. (Genomics 1996) 2 3 4 23 67
  2. Biological spectra analysis: Linking biological activity profiles to molecular structure. (PMID: 15625110) Fliri A.F. … Volkmann R.A. (Proc. Natl. Acad. Sci. U.S.A. 2005) 23 25 26
  3. Structural basis of human CYP51 inhibition by antifungal azoles. (PMID: 20149798) Strushkevich N. … Park H.W. (J. Mol. Biol. 2010) 3 23
  4. SuperCYP: a comprehensive database on Cytochrome P450 enzymes including a tool for analysis of CYP-drug interactions. (PMID: 19934256) Preissner S. … Preissner R. (Nucleic Acids Res. 2010) 25 26
  5. Regulation of cholesterologenesis by the oxysterol receptor, LXRalpha. (PMID: 18676367) Wang Y. … Burris T.P. (J. Biol. Chem. 2008) 3 23

Products for CYP51A1 Gene

Sources for CYP51A1 Gene