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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 1.14.13.70 4 56
  • 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 Spleen Angiosarcoma and Spleen Cancer. Among its related pathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and cholesterol biosynthesis I. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen.

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.

Additional gene information for CYP51A1 Gene

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

Genomics for CYP51A1 Gene

GeneHancer (GH) Regulatory Elements for CYP51A1 Gene

Promoters and enhancers for CYP51A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I092132 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 574.9 +8.6 8565 4 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 NFYC CYP51A1 CYP51A1-AS1 ENSG00000243107 KRIT1 PEX1 AKAP9 GATAD1 LRRD1 GC07P092082
GH07I092131 Promoter 0.6 EPDnew 550.4 +11.1 11057 0.1 RUNX3 CYP51A1 CYP51A1-AS1 GC07P092082 LRRD1
GH07I092178 Promoter/Enhancer 1.4 Ensembl ENCODE 42 -36.3 -36258 1.5 ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 GLIS2 ZNF143 RUNX3 KAT8 LRRD1 CYP51A1 KRIT1 ENSG00000243107 PEX1 FAM133B GATAD1 MTERF1 AKAP9 ERVW-1
GH07I091939 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 22.5 +201.7 201723 3.1 HDGF PKNOX1 CLOCK MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 AKAP9 GC07M091897 CYP51A1
GH07I092244 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 21.3 -103.3 -103325 4.4 HDGF CLOCK SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZBTB7B YY1 KRIT1 ANKIB1 CYP51A1 GC07M092277
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CYP51A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CYP51A1 gene promoter:

Genomic Locations for CYP51A1 Gene

Genomic Locations for CYP51A1 Gene
chr7:92,112,149-92,142,952
(GRCh38/hg38)
Size:
30,804 bases
Orientation:
Minus strand
chr7:91,741,463-91,772,266
(GRCh37/hg19)

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:
    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; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAB46356.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH32322.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAA09512.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAG36881.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=EAL24154.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=EAW76858.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; 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

Selected DME Specific Peptides for CYP51A1 Gene

Q16850:
  • AAALLFNSKNEDLNAE
  • QHVSIIEKETKEYF
  • RSQLNEKVAQLYADLDGGFSHAAWLLPGWLPLPSFRRRD
  • LTTPVFG
  • VFLEQKK
  • TPVFGKGV
  • AYEKYGPVFSFTMVGKTFTYLLGS
  • PFGAGRHRC
  • GMLIGLLLAGQHTSSTTSAWMGFFLA
  • GENFAYVQIKTIWSTMLRLYEFDLI

Post-translational modifications for CYP51A1 Gene

  • Ubiquitination at Lys141, posLast=160160, posLast=261261, posLast=266266, and Lys436
  • Modification sites at PhosphoSitePlus

Other Protein References for CYP51A1 Gene

Domains & Families for CYP51A1 Gene

Gene Families for CYP51A1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for CYP51A1 Gene

Graphical View of Domain Structure for InterPro Entry

Q16850

UniProtKB/Swiss-Prot:

CP51A_HUMAN :
  • Belongs to the cytochrome P450 family.
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

Phenotypes From GWAS Catalog 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 TAS --
GO:0016491 oxidoreductase activity IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA --
GO:0020037 heme binding IDA,IEA 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

miRTarBase miRNAs that target CYP51A1

Inhibitory RNA Products

Clone 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; Single-pass membrane protein. Microsome membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYP51A1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
extracellular 2
mitochondrion 2
peroxisome 1
nucleus 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CYP51A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA,IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane IBA --
GO:0016020 membrane HDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
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:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA,IDA 20149798
GO:0006695 cholesterol biosynthetic process TAS --
GO:0008202 steroid metabolic process IEA --
GO:0008203 cholesterol metabolic process IEA --
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

(26) 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 173
Sertaconazole Approved, Investigational 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 179
Posaconazole Approved, Investigational, Vet_approved Pharma Sterol C14ɑ demethylase inhibitor 61

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 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
53-57-6
obtusifoliol
  • 4,4-Dimethyl-14a-hydroxymethyl-5a-cholesta-8,24-dien-3b-ol
  • 4,4-Dimethyl-14alpha-hydroxymethyl-5alpha-cholesta-8,24-dien-3beta-ol
4,4-Dimethylcholesta-8,14,24-trienol
  • (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
64284-64-6
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
74635-33-9
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton

(4) ApexBio Compounds for CYP51A1 Gene

Compound Action Cas Number
Posaconazole Sterol C14ɑ demethylase inhibitor 171228-49-2
Posaconazole hydrate C14ɑ demethylase inhibitor 1198769-38-8
Voriconazole CYP51 inhibitor 137234-62-9
YM 511 148869-05-0
genes like me logo Genes that share compounds with CYP51A1: view

Drug Products

Transcripts for CYP51A1 Gene

Unigene Clusters for CYP51A1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for CYP51A1 Gene



Protein tissue co-expression partners for CYP51A1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CYP51A1 Gene:

CYP51A1

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.

Evidence on tissue expression from TISSUES for CYP51A1 Gene

  • Nervous system(4.9)
  • Liver(4.6)
  • Lung(2.4)
  • Kidney(2.2)
  • Adrenal gland(2.1)
  • Heart(2.1)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with CYP51A1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia CYP51A1 33 34
  • 99.67 (n)
dog
(Canis familiaris)
Mammalia CYP51A1 33 34
  • 92.48 (n)
cow
(Bos Taurus)
Mammalia CYP51A1 33 34
  • 91.15 (n)
mouse
(Mus musculus)
Mammalia Cyp51 33 16 34
  • 88.53 (n)
rat
(Rattus norvegicus)
Mammalia Cyp51 33
  • 87.06 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CYP51A1 34
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CYP51A1 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 85 (a)
OneToMany
CYP51A1 33 34
  • 76.73 (n)
lizard
(Anolis carolinensis)
Reptilia CYP51A1 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cyp51a1 33
  • 71.87 (n)
Str.7211 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.25369 33
zebrafish
(Danio rerio)
Actinopterygii cyp51 33 34
  • 69.19 (n)
wufb66a09 33
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E03653g 33
  • 49.09 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG11 33 34 36
  • 48.53 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR162W 33
  • 48.19 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons CYP51G1 33
  • 48.16 (n)
rice
(Oryza sativa)
Liliopsida Os11g0525200 33
  • 46.42 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg11 33
  • 49.19 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 12 (a)
ManyToMany
Species where no ortholog for CYP51A1 was found in the sources mined by GeneCards:
  • 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

Pseudogenes.org Pseudogenes for CYP51A1 Gene

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

No data available for Paralogs for CYP51A1 Gene

Variants for CYP51A1 Gene

Sequence variations from dbSNP and Humsavar for CYP51A1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000189717 -- 92,128,324(-) T/C intron_variant
rs1000284599 -- 92,128,018(-) T/C intron_variant
rs1000457167 -- 92,114,277(-) C/T intron_variant
rs1000488498 -- 92,134,605(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000539717 -- 92,121,061(-) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
esv3306173 CNV mobile element insertion 20981092
esv3308042 CNV mobile element insertion 20981092
esv3372054 CNV insertion 20981092
esv3571987 CNV loss 25503493
nsv1021101 CNV gain 25217958
nsv1109898 CNV deletion 24896259
nsv5839 CNV insertion 18451855
nsv966859 CNV duplication 23825009

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)

Additional Variant Information for CYP51A1 Gene

Human Gene Mutation Database (HGMD)
CYP51A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP51A1

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

Disorders for CYP51A1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
spleen angiosarcoma
  • angiosarcoma of spleen
spleen cancer
  • malignant splenic tumor
antley-bixler syndrome
  • trapezoidocephaly-synostosis syndrome
chagas disease
  • american trypanosomiasis
primary systemic mycosis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CYP51A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 MR (Genomics 1996) 2 3 4 22 58
  2. Structural basis of human CYP51 inhibition by antifungal azoles. (PMID: 20149798) Strushkevich N … Park HW (Journal of molecular biology 2010) 3 4 22 58
  3. The ubiquitously expressed human CYP51 encodes lanosterol 14 alpha-demethylase, a cytochrome P450 whose expression is regulated by oxysterols. (PMID: 8619637) Strömstedt M … Waterman MR (Archives of biochemistry and biophysics 1996) 3 4 22 58
  4. Sterol 14-demethylase P450 (P45014DM*) is one of the most ancient and conserved P450 species. (PMID: 8797093) Aoyama Y … Yoshida Y (Journal of biochemistry 1996) 3 4 22 58
  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 MR (Archives of biochemistry and biophysics 1996) 3 4 22 58

Products for CYP51A1 Gene

Sources for CYP51A1 Gene

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