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 61
External Ids for CYP51A1 Gene
- HGNC: 2649
- Entrez Gene: 1595
- Ensembl: ENSG00000001630
- OMIM: 601637
- UniProtKB: Q16850
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
-
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 cholesterol biosynthesis I and Cytochrome P450 - arranged by substrate type. 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 CIViC summary , 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 | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH07G092178 | 1 | ENCODE | 42 | -36.3 | -36258 | 1.5 | ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 GLIS2 ZNF143 ZNF263 KAT8 | CYP51A1 ERVW-1 KRIT1 LRRD1 |
| GH07G092132 | 1.2 | ENCODE | 24.9 | +8.5 | 8533 | 3.9 | CREB3L1 AGO1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC | CYP51A1 ENSG00000243107 GATAD1 KRIT1 CYP51A1-AS1 GC07P092082 |
| GH07G092177 | 0.6 | ENCODE | 42.5 | -34.7 | -34682 | 1.0 | PKNOX1 PRDM6 JUND PBX2 FOS PRDM1 SP7 | CYP51A1 ERVW-1 LRRD1 |
| GH07G091939 | 1.1 | ENCODE | 22.5 | +201.8 | 201790 | 3.0 | HDGF PKNOX1 MLX CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 | CYP51A1 GC07M091897 AKAP9 |
| GH07G092041 | 0.9 | ENCODE | 26.6 | +99.2 | 99220 | 5.4 | FOXA2 MLX ARID4B DMAP1 YY1 SP5 PPARG KAT8 MEF2D MIER3 | CYP51A1 PIR39118 GC07P092060 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around CYP51A1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for CYP51A1 Gene
- Chromosome:
- 7
- 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
Genes around CYP51A1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7q21.2 by Ensembl
- 7q21.2 by Entrez Gene
- 7q21.2 by HGNC
CYP51A1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression 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
Other Protein References for CYP51A1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for CYP51A1
-
Abcam antibodies for CYP51A1
- Invitrogen Antibodies for CYP51A1
- antibodies-online Antibodies for CYP51A1: See all 40
- GeneTex CYP51A1 antibody for CYP51A1
Protein Products
-
OriGene Purified Proteins for CYP51A1
- Search Origene for MassSpec and Protein Over-expression Lysates for CYP51A1
- Origene Custom Protein Services for CYP51A1
- antibodies-online Proteins for CYP51A1: See all 3
- Search antibodies-online for peptides
- Search GeneTex for Proteins for CYP51A1
-
Abcam proteins for CYP51A1
Assay Products
Domains & Families for CYP51A1 Gene
Gene Families for CYP51A1 Gene
- HGNC:
- IUPHAR :
Protein Domains for CYP51A1 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CYP51A1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q16850- Family:
-
- Belongs to the cytochrome P450 family.
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
| 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 |
Phenotypes for CYP51A1 Gene
- MGI mutant phenotypes for CYP51A1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for CYP51A1:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased viability in esophageal squamous lineage
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased NF-kappaB reporter expression
- Increased transferrin (TF) endocytosis
- Increased shRNA abundance
Animal Models for CYP51A1 Gene
- MGI Knock Outs for CYP51A1:
-
- Cyp51 tm1.1Bfro
Animal Model Products
-
Taconic Biosciences Mouse Models for CYP51A1
- Cyagen custom Knockout/knockin (KOKI) mouse models for CYP51A1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CYP51A1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CYP51A1 gene
- Search ViGene Biosciences for CYP51A1
CRISPR Products
-
OriGene CRISPR knockouts for CYP51A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CYP51A1
- GenScript: Design CRISPR guide RNA sequences for CYP51A1
miRNA for CYP51A1 Gene
- miRTarBase miRNAs that target CYP51A1
-
- hsa-mir-155-5p (MIRT001555)
- hsa-mir-335-5p (MIRT018801)
- hsa-mir-34a-5p (MIRT025395)
- hsa-mir-15b-5p (MIRT046448)
- hsa-mir-1273e (MIRT462855)
- hsa-mir-650 (MIRT462856)
- hsa-mir-3612 (MIRT462857)
- hsa-mir-6499-3p (MIRT462858)
- hsa-mir-2467-3p (MIRT462859)
- hsa-mir-1827 (MIRT462860)
- hsa-mir-3605-5p (MIRT462861)
- hsa-mir-219b-3p (MIRT462862)
- hsa-mir-4649-3p (MIRT462863)
- hsa-mir-1247-3p (MIRT462864)
- hsa-mir-6847-5p (MIRT462865)
- hsa-mir-3919 (MIRT462866)
- hsa-mir-6511a-5p (MIRT462867)
- hsa-mir-1910-3p (MIRT462868)
- hsa-mir-3123 (MIRT462869)
- hsa-mir-302f (MIRT462870)
- hsa-mir-6514-3p (MIRT675914)
- hsa-mir-7977 (MIRT675915)
- hsa-mir-675-5p (MIRT675916)
- hsa-mir-4466 (MIRT675917)
- hsa-mir-5196-5p (MIRT675918)
- hsa-mir-4747-5p (MIRT675919)
- hsa-mir-24-3p (MIRT675920)
- hsa-mir-4284 (MIRT675921)
- hsa-mir-6847-3p (MIRT675922)
- hsa-mir-4746-3p (MIRT675923)
- hsa-mir-6811-3p (MIRT675924)
- hsa-mir-214-5p (MIRT675925)
- hsa-mir-4493 (MIRT675926)
- hsa-mir-764 (MIRT675927)
- hsa-mir-383-3p (MIRT675928)
- hsa-mir-9500 (MIRT675929)
- hsa-mir-4753-5p (MIRT675930)
miRNA Products
- Search ViGene Biosciences for CYP51A1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CYP51A1
- Browse OriGene Inhibitory RNA Products For CYP51A1
-
ViGene Biosciences ready-to-package AAV shRNAs for CYP51A1 gene
Clone Products
- Sino Biological Human cDNA Clone for CYP51A1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for CYP51A1
- VectorBuilder custom plasmid, inducible vectors for CYP51A1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CYP51A1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for CYP51A1
-
ViGene Biosciences adenoviral particle packaged cDNA for CYP51A1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CYP51A1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CYP51A1 gene
Flow Cytometry 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.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| plasma membrane | 4 |
| extracellular | 2 |
| mitochondrion | 2 |
| peroxisome | 1 |
| nucleus | 1 |
| cytosol | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IDA | -- |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0005886 | plasma membrane | IBA | -- |
| GO:0016020 | membrane | IDA,IEA | 19946888 |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for CYP51A1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cytochrome P450 - arranged by substrate type | ||
| 2 | cholesterol biosynthesis I | ||
| 3 | Metabolism |
.37
|
|
| 4 | Terpenoid backbone biosynthesis | ||
| 5 | Regulation of cholesterol biosynthesis by SREBP (SREBF) | ||
Pathways by source for CYP51A1 Gene
9 BioSystems pathways for CYP51A1 Gene
9 Reactome pathways for CYP51A1 Gene
2 KEGG pathways for CYP51A1 Gene
UniProtKB/Swiss-Prot Q16850-CP51A_HUMAN
- Pathway: Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 1/6.
Interacting Proteins for CYP51A1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006694 | steroid biosynthetic process | IDA,IEA | 20149798 |
| GO:0006695 | cholesterol biosynthetic process | TAS | -- |
| GO:0008202 | steroid metabolic process | IEA | -- |
| GO:0008203 | cholesterol metabolic process | IEA | -- |
No data available for SIGNOR curated interactions for CYP51A1 Gene
Drugs & Compounds for CYP51A1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Itraconazole | Approved, Investigational | Pharma | Target, inhibitor | SMO antagonist; acts at different binding site to cyclopamine (Cat No. 1623) | 158 | |
| 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 | 175 | |
| Posaconazole | Approved, Investigational, Vet_approved | Pharma | Sterol C14ɑ demethylase inhibitor | 56 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| nadph |
|
53-57-6 | ||||
| obtusifoliol |
|
|||||
| 4,4-Dimethylcholesta-8,14,24-trienol |
|
64284-64-6 |
|
|||
| Delta 8,14 -Sterol |
|
74635-33-9 |
|
|||
| Hydrogen Ion |
|
|
(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 |
Drug Products
- ApexBio compounds for CYP51A1
Transcripts for CYP51A1 Gene
mRNA/cDNA for CYP51A1 Gene
- (2) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (246) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CYP51A1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CYP51A1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CYP51A1
- GenScript: Design CRISPR guide RNA sequences for CYP51A1
miRNA Products
- Search ViGene Biosciences for CYP51A1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CYP51A1
- Browse OriGene Inhibitory RNA Products For CYP51A1
-
ViGene Biosciences ready-to-package AAV shRNAs for CYP51A1 gene
Clone Products
- Sino Biological Human cDNA Clone for CYP51A1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for CYP51A1
- VectorBuilder custom plasmid, inducible vectors for CYP51A1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CYP51A1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12a | · | 12b | · | 12c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||
| SP4: |
Expression for CYP51A1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
- XY Germ Cells Testis Cord
-
Gonad
- XY Germ Cells Testis Cord
- Intermediate Mesoderm (Gastrulation Derivatives)
- Intestine (Gastrointestinal Tract)
- Eye (Sensory Organs)
-
Liver (Hepatobiliary System)
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CYP51A1 Gene:
CYP51A1SOURCE GeneReport for Unigene cluster for CYP51A1 Gene:
Hs.417077mRNA 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)
Primer Products
-
OriGene qPCR primer pairs and template standards for CYP51A1
-
OriGene qPCR primer pairs for CYP51A1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CYP51A1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | CYP51A1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | CYP51A1 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Cyp51 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cyp51 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | CYP51A1 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | CYP51A1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | -- 35 |
|
OneToMany | |
| CYP51A1 34 35 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | CYP51A1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cyp51a1 34 |
|
||
| Str.7211 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.25369 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cyp51 34 35 |
|
||
| wufb66a09 34 |
|
||||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E03653g 34 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ERG11 34 35 37 |
|
||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ADR162W 34 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | CYP51G1 34 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os11g0525200 34 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | erg11 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
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)
Paralogs for CYP51A1 Gene
Pseudogenes.org Pseudogenes for CYP51A1 Gene
Variants for CYP51A1 Gene
| SNP ID | Clin | Chr 07 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000189717 | -- | 92,128,324(+) | ACCCA(C/T)TACTT | intron-variant | |
| rs1000284599 | -- | 92,128,018(+) | TGTTC(C/T)ATATC | intron-variant | |
| rs1000457167 | -- | 92,114,277(+) | ATATA(C/T)TAAAA | intron-variant | |
| rs1000488498 | -- | 92,134,605(+) | GATAG(A/G)GCACC | intron-variant, nc-transcript-variant, upstream-variant-2KB | |
| rs1000539717 | -- | 92,121,061(+) | AAGGC(A/G)GGCAG | intron-variant |
| 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP51A1 Gene
Disorders for CYP51A1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| antley-bixler syndrome |
|
|
| chagas disease |
|
|
| antley-bixler syndrome without genital anomalies or disordered steroidogenesis |
|
|
| parasitic protozoa infectious disease |
|
|
Search CYP51A1 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for CYP51A1
No data available for UniProtKB/Swiss-Prot and Genatlas for CYP51A1 Gene
Publications for CYP51A1 Gene
- 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 22 64
- Structural basis of human CYP51 inhibition by antifungal azoles. (PMID: 20149798) Strushkevich N. … Park H.W. (J. Mol. Biol. 2010) 3 4 22 64
- 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 22 64
- 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 22 64
- 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 22 64
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