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 lano... See more...

Aliases for CYP51A1 Gene

Aliases for CYP51A1 Gene

  • Cytochrome P450 Family 51 Subfamily A Member 1 2 3 5
  • LDM 2 3 4
  • Cytochrome P450, Family 51, Subfamily A, Polypeptide 1 2 3
  • Cytochrome P450, 51 (Lanosterol 14-Alpha-Demethylase) 2 3
  • Lanosterol 14-Alpha Demethylase 3 4
  • Sterol 14-Alpha Demethylase 3 4
  • Cytochrome P450 51A1 3 4
  • Cytochrome P450-14DM 3 4
  • Cytochrome P45014DM 3 4
  • Cytochrome P450LI 3 4
  • P450-14DM 2 3
  • P450L1 2 3
  • CYP51 3 4
  • CYPL1 2 3
  • CYPLI 3 4
  • CP51 2 3
  • EC 1.14.14.154 4
  • EC 1.14.13.70 51
  • CYP51A1 5

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 Congenital Cataract-Severe Neonatal Hepatopathy-Global Developmental Delay Syndrome and Chagas Disease. Among its related pathways are cholesterol biosynthesis III (via desmosterol) and Cytochrome P450 - arranged by substrate type. 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 Summary for CYP51A1 Gene

  • A cytochrome P450 monooxygenase involved in sterol biosynthesis. Catalyzes 14-alpha demethylation of lanosterol and 24,25-dihydrolanosterol likely through sequential oxidative conversion of 14-alpha methyl group to hydroxymethyl, then to carboxylaldehyde, followed by the formation of the delta 14,15 double bond in the sterol core and concomitant release of formic acid (PubMed:20149798, PubMed:8619637). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:20149798, PubMed:8619637).

Additional gene information for CYP51A1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYP51A1 Gene

Genomics for CYP51A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CYP51A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYP51A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYP51A1

Top Transcription factor binding sites by QIAGEN in the CYP51A1 gene promoter:
  • aMEF-2
  • GATA-1
  • Ik-2
  • MEF-2
  • MEF-2A
  • Meis-1
  • Meis-1a
  • Meis-1b
  • POU2F1
  • POU2F1a

Genomic Locations for CYP51A1 Gene

Genomic Locations for CYP51A1 Gene
chr7:92,112,149-92,134,803
(GRCh38/hg38)
Size:
22,655 bases
Orientation:
Minus strand
chr7:91,741,463-91,772,266
(GRCh37/hg19)
Size:
30,804 bases
Orientation:
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:
    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=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAB46356.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAH32322.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAA09512.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAG36881.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=EAL24154.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=EAW76858.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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, Lys160, Lys261, Lys266, 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

Protein Domains for CYP51A1 Gene

InterPro:
Blocks:
  • Serine protease, trypsin family
  • E-class P450 group IV signature
ProtoNet:

Suggested Antigen Peptide Sequences for CYP51A1 Gene

GenScript: Design optimal peptide antigens:
  • Sterol 14-alpha demethylase (CP51A_HUMAN)
  • CYP51A1 protein (Q05D40_HUMAN)

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 Function:
A cytochrome P450 monooxygenase involved in sterol biosynthesis. Catalyzes 14-alpha demethylation of lanosterol and 24,25-dihydrolanosterol likely through sequential oxidative conversion of 14-alpha methyl group to hydroxymethyl, then to carboxylaldehyde, followed by the formation of the delta 14,15 double bond in the sterol core and concomitant release of formic acid (PubMed:20149798, PubMed:8619637). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:20149798, PubMed:8619637).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 14alpha-methyl steroid + 3 O2 + 3 reduced [NADPH--hemoprotein reductase] = a Delta(14) steroid + formate + 4 H(+) + 4 H2O + 3 oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:54028, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:15740, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:138029, ChEBI:CHEBI:138031; EC=1.14.14.154; Evidence={ECO:0000269|PubMed:20149798, ECO:0000269|PubMed:8619637};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=lanosterol + 3 O2 + 3 reduced [NADPH--hemoprotein reductase] = 4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol + formate + 4 H(+) + 4 H2O + 3 oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:25286, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:15740, ChEBI:CHEBI:16521, ChEBI:CHEBI:17813, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210; EC=1.14.14.154; Evidence={ECO:0000269|PubMed:20149798};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=24,25-dihydrolanosterol + 3 O2 + 3 reduced [NADPH--hemoprotein reductase] = 4,4-dimethyl-8,14-cholestadien-3beta-ol + formate + 4 H(+) + 4 H2O + 3 oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:45960, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:15740, ChEBI:CHEBI:28113, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:78904; Evidence={ECO:0000269|PubMed:8619637};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by azalanstat. Inhibited by azole antifungal agents ketoconazole, itraconazole and fluconazole.

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:0004497 monooxygenase activity IEA,IBA 21873635
GO:0005506 iron ion binding IEA --
GO:0008398 sterol 14-demethylase activity TAS --
GO:0016491 oxidoreductase activity IEA,IBA 21873635
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA --
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

miRNA for CYP51A1 Gene

miRTarBase miRNAs that target CYP51A1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP51A1

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
mitochondrion 3
extracellular 2
cytoskeleton 2
peroxisome 2
nucleus 2
cytosol 2
lysosome 2
golgi apparatus 2
endosome 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 IEA,HDA 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

(29) 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 241
Tioconazole Approved Pharma Target, inhibitor 0
Miconazole Approved, Investigational, Vet_approved Pharma Channel blocker, Pore Blocker, Antagonist, Enzyme, inhibitor 3024
Posaconazole Approved, Investigational, Vet_approved Pharma Sterol C14ɑ demethylase inhibitor 73
Voriconazole Approved Pharma CYP51 inhibitor 153

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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
  • 4,4-Dimechol-8,14,24-trienol
  • 4,4-Dimethylcholesta-8(9),14,24-trien-3beta-ol
  • 4,4-Dimethylcholesta-8(9),14,24-trien-3b-ol
  • 4,4-Dimethylcholesta-8(9),14,24-trien-3β-ol
  • (3beta,5alpha)-4,4-Dimethyl-cholesta-8,14,24-trien-3-ol
64284-64-6
Delta 8,14 -Sterol
  • delta8,14 -Sterol
  • delta8,14-Sterol
  • δ8,14 -sterol
  • δ 8,14 -sterol
  • δ8,14-sterol
74635-33-9
Hydrogen Ion
  • H+
  • H(+)
  • 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

mRNA/cDNA for CYP51A1 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP51A1

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

Expression for CYP51A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for CYP51A1 Gene



Protein tissue co-expression partners for CYP51A1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.7)
  • Kidney(2.9)
  • Heart(2.8)
  • Lung(2.8)
  • Intestine(2.7)
  • Adrenal gland(2.6)
  • Skin(2.6)
  • Muscle(2.6)
  • Blood(2.5)
  • Spleen(2.5)
  • Stomach(2.2)
  • Bone marrow(2)
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 30 31
  • 99.67 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CYP51A1 30 31
  • 92.48 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CYP51A1 30 31
  • 91.15 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cyp51 30 17 31
  • 88.53 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cyp51 30
  • 87.06 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CYP51A1 31
  • 85 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CYP51A1 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 31
  • 85 (a)
OneToMany
CYP51A1 30 31
  • 76.73 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia CYP51A1 31
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cyp51a1 30
  • 71.87 (n)
Str.7211 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.25369 30
Zebrafish
(Danio rerio)
Actinopterygii cyp51 30 31
  • 69.19 (n)
OneToOne
wufb66a09 30
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E03653g 30
  • 49.09 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG11 30 31 33
  • 48.53 (n)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADR162W 30
  • 48.19 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons CYP51G1 30
  • 48.16 (n)
Rice
(Oryza sativa)
Liliopsida Os11g0525200 30
  • 46.42 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg11 30
  • 49.19 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CYP51A1: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYP51A1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
677167 Benign: not provided 92,113,836(-) A/G SYNONYMOUS_VARIANT
rs757058637 Uncertain Significance: not provided 92,113,666(-) C/A STOP_LOST
rs2229188 - p.Val13Ala

Additional dbSNP identifiers (rs#s) for CYP51A1 Gene

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

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

Disorder Aliases PubMed IDs
congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
chagas disease
  • american trypanosomiasis
antley-bixler syndrome
  • trapezoidocephaly-synostosis syndrome
fusariosis
  • fusarium infection
tinea pedis
  • athlete's foot
- 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
Open Targets Platform
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 23
  2. Structural basis of human CYP51 inhibition by antifungal azoles. (PMID: 20149798) Strushkevich N … Park HW (Journal of molecular biology 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) Strömstedt M … Waterman MR (Archives of biochemistry and biophysics 1996) 3 4 23
  4. 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 23
  5. 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 23

Products for CYP51A1 Gene

Sources for CYP51A1 Gene