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Aliases for CYP51A1 Gene

Aliases for CYP51A1 Gene

  • Cytochrome P450, Family 51, Subfamily A, Polypeptide 1 2 3
  • CYP51 3 4 6
  • 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 1.14.13.70 4 63
  • CYPLI 3 4
  • LDM 3 4
  • Lanosterol 14-Alpha Demethylase 3
  • 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, Polypeptide 1) is a Protein Coding gene. Diseases associated with CYP51A1 include chagas disease and antley-bixler syndrome. Among its related pathways are Regulation of Cholesterol Biosynthesis by SREBP (SREBF) and Metabolism. GO annotations related to this gene include electron carrier activity and heme binding. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CYP51A1 Gene

Start:
92,112,149 bp from pter
End:
92,142,952 bp from pter
Size:
30,804 bases
Orientation:
Minus strand

Genomic View for CYP51A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q16850-CP51A_HUMAN
    Recommended name:
    Lanosterol 14-alpha demethylase
    Protein Accession:
    Q16850
    Secondary Accessions:
    • A4D1F8
    • B2RAI4
    • B4DJ55
    • O00770
    • O00772
    • Q16784
    • Q8N1A8
    • Q99868

    Protein attributes for CYP51A1 Gene

    Size:
    503 amino acids
    Molecular mass:
    56806 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for CYP51A1 Gene

Proteomics data for CYP51A1 Gene at MOPED

Post-translational modifications for CYP51A1 Gene

  • Ubiquitination at Lys141, Lys160, Lys261, Lys266, and Lys436
  • Modification sites at PhosphoSitePlus

Other Protein References for CYP51A1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

Domains for CYP51A1 Gene

Gene Families for CYP51A1 Gene

HGNC:
  • CYP :Cytochrome P450s
IUPHAR :

Suggested Antigen Peptide Sequences for CYP51A1 Gene

Graphical View of Domain Structure for InterPro Entry

Q16850

UniProtKB/Swiss-Prot:

CP51A_HUMAN :
  • Q16850
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:0005506 iron ion binding IEA --
GO:0008398 sterol 14-demethylase activity IDA 20149798
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen --
GO:0020037 heme binding IDA 20149798
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

CRISPR Products

miRNA for CYP51A1 Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CYP51A1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting 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

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

Gene Ontology (GO) - Cellular Components for CYP51A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle --
genes like me logo Genes that share ontologies with CYP51A1: view

Pathways for CYP51A1 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Lipoprotein Signaling & Cholesterol Metabolism in human,mouse,rat

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:0006694 steroid biosynthetic process IDA 20149798
GO:0006695 cholesterol biosynthetic process TAS --
GO:0006805 xenobiotic metabolic process TAS --
GO:0016125 sterol metabolic process TAS --
GO:0033488 cholesterol biosynthetic process via 24,25-dihydrolanosterol IEA --
genes like me logo Genes that share ontologies with CYP51A1: view

Compounds for CYP51A1 Gene

(2) ApexBio Compounds for CYP51A1 Gene

Compound Action Cas Number
Posaconazole Sterol C14ɑ demethylase inhibitor [171228-49-2]
Voriconazole CYP51 inhibitor [137234-62-9]

(10) HMDB Compounds for CYP51A1 Gene

Compound Synonyms Cas Number PubMed IDs
4,4-Dimethylcholesta-8,14,24-trienol
  • (3beta,5alpha)-4,4-Dimethylcholesta-8,14,24-trien-3-ol
64284-64-6
Delta 8,14 -Sterol
  • 4alpha-Methyl-5alpha-ergosta-8,14,24(28)-trien-3beta-ol
74635-33-9
Formic acid
  • Add-F
64-18-6
Heme
  • (protoporphyrinato)iron
14875-96-8
Lanosterin
  • (3 beta)-Lanosta-8,24-dien-3-ol
79-63-0

(5) Drugbank Compounds for CYP51A1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
1-[(2S)-2-[(4-CHLOROBENZYL)OXY]-2-(2,4-DICHLOROPHENYL)ETHYL]-1H-IMIDAZOLE
target
Itraconazole
  • ITC
84625-61-6 target inhibitor
Ketoconazole
  • 2%
65277-42-1 enzyme inhibitor
Sertaconazole
  • Sertaconazol [Spanish]
99592-32-2 enzyme inhibitor
Tioconazole
  • Tioconazol [INN-Spanish]
65899-73-2 target inhibitor

(33) Novoseek inferred chemical compound relationships for CYP51A1 Gene

Compound -log(P) Hits PubMed IDs
lanosterol 96.7 72
24,25-dihydrolanosterol 92.1 2
sterol 88.8 86
obtusifoliol 87.2 6
azalanstat 84.9 2
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CYP51A1

Primer Products

Flow Cytometry Products

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: -
SP3:
SP4:

Relevant External Links for CYP51A1 Gene

GeneLoc Exon Structure for
CYP51A1
ECgene alternative splicing isoforms for
CYP51A1

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 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 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

Q16850-CP51A_HUMAN
Tissue specificity: Ubiquitously expressed with highest levels in testis, ovary, adrenal, prostate, liver, kidney and lung.
genes like me logo Genes that share expressions with CYP51A1: view

Expression partners for CYP51A1 Gene

In Situ Assay 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
cow
(Bos Taurus)
Mammalia CYP51A1 35
  • 91.15 (n)
  • 93.41 (a)
CYP51A1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYP51A1 35
  • 92.48 (n)
  • 96.54 (a)
CYP51A1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cyp51 35
  • 88.53 (n)
  • 91.65 (a)
Cyp51 16
Cyp51 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CYP51A1 35
  • 99.67 (n)
  • 99.21 (a)
CYP51A1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyp51 35
  • 87.06 (n)
  • 93.7 (a)
oppossum
(Monodelphis domestica)
Mammalia CYP51A1 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYP51A1 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves CYP51A1 35
  • 76.73 (n)
  • 85.12 (a)
-- 36
  • 85 (a)
OneToMany
CYP51A1 36
  • 82 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia CYP51A1 36
  • 80 (a)
OneToOne
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
zebrafish
(Danio rerio)
Actinopterygii cyp51 35
  • 69.19 (n)
  • 79.41 (a)
wufb66a09 35
cyp51 36
  • 77 (a)
OneToOne
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)
OneToMany
ERG11 38
thale cress
(Arabidopsis thaliana)
eudicotyledons CYP51G1 35
  • 48.16 (n)
  • 39.74 (a)
rice
(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)
ManyToMany
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

ENSEMBL:
Gene Tree for CYP51A1 (if available)
TreeFam:
Gene Tree for CYP51A1 (if available)

Paralogs for CYP51A1 Gene

Paralogs for CYP51A1 Gene

Pseudogenes.org 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 MAF
rs6 -- 92,117,817(-) agaga(C/T)ggggt intron-variant
rs11459 -- 92,112,873(-) TTTTG(C/T)TTTGG utr-variant-3-prime
rs1135217 -- 92,112,657(-) GAGAC(A/G)GGGGT utr-variant-3-prime
rs2106170 -- 92,121,060(+) CAAGG(C/T)GGGCA intron-variant
rs2106171 -- 92,121,136(+) AATAC(A/G)AAAAT intron-variant

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

Relevant External Links for CYP51A1 Gene

HapMap Linkage Disequilibrium report
CYP51A1
Human Gene Mutation Database (HGMD)
CYP51A1

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

Disorders for CYP51A1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for CYP51A1 Gene in MalaCards »

(2) Diseases for CYP51A1 Gene including...

(3) University of Copenhagen DISEASES for CYP51A1 Gene

(5) Novoseek inferred disease relationships for CYP51A1 Gene

Disease -log(P) Hits PubMed IDs
infection fungal 50.3 4
tuberculosis 47.4 20
chagas disease 45.5 2
leukemia 0 2
cancer 0 2

Relevant External Links for CYP51A1

Genetic Association Database (GAD)
CYP51A1
Human Genome Epidemiology (HuGE) Navigator
CYP51A1
genes like me logo Genes that share disorders with CYP51A1: view

No data available for OMIM , 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
  2. Structural basis of human CYP51 inhibition by antifungal azoles. (PMID: 20149798) Strushkevich N. … Park H.W. (J. Mol. Biol. 2010) 3 4 23
  3. The ubiquitously expressed human CYP51 encodes lanosterol 14 alpha- demethylase, a cytochrome P450 whose expression is regulated by oxysterols. (PMID: 8619637) Stroemstedt M. … Waterman M.R. (Arch. Biochem. Biophys. 1996) 3 4 23
  4. Sterol 14-demethylase P450 (P45014DM*) is one of the most ancient and conserved P450 species. (PMID: 8797093) Aoyama Y. … Yoshida Y. (J. Biochem. 1996) 3 4 23
  5. The three human cytochrome P450 lanosterol 14 alpha-demethylase (CYP51) genes reside on chromosomes 3, 7, and 13: structure of the two retrotransposed pseudogenes, association with a line-1 element, and evolution of the human CYP51 family. (PMID: 8809088) Rozman D. … Waterman M.R. (Arch. Biochem. Biophys. 1996) 3 4 23

Products for CYP51A1 Gene

Sources for CYP51A1 Gene

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