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CYP51A1 Gene

protein-coding   GIFtS: 65
GCID: GC07M091741

Cytochrome P450, Family 51, Subfamily A, Polypeptide 1

(Previous names: cytochrome P450, 51 (lanosterol 14-alpha-demethylase))
(Previous symbol: CYP51)
  See CYP51A1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cytochrome P450, Family 51, Subfamily A, Polypeptide 11 2     LDM2 3
CYP511 2 3 5     EC 1.14.13.703 8
Cytochrome P450, 51 (Lanosterol 14-Alpha-Demethylase)1 2     CP512
Cytochrome P450 51A12 3     CYPL12
Cytochrome P450-14DM2 3     P450-14DM2
Cytochrome P45014DM2 3     P450L12
Cytochrome P450LI2 3     Lanosterol 14-Alpha Demethylase2
Sterol 14-Alpha Demethylase2 3     Lanosterol 14-Alpha-Demethylase2
CYPLI2 3     

External Ids:    HGNC: 26491   Entrez Gene: 15952   Ensembl: ENSG000000016307   OMIM: 6016375   UniProtKB: Q168503   

Export aliases for CYP51A1 gene to outside databases

Previous GC identifers: GC07M090277 GC07M091339 GC07M091354 GC07M091355 GC07M091387 GC07M091579 GC07M086348


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP26A1.

UniProtKB/Swiss-Prot: CP51A_HUMAN, Q16850
Function: Catalyzes C14-demethylation of lanosterol; it transforms lanosterol into 4,4'-dimethyl
cholesta-8,14,24-triene-3-beta-ol




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NC_018918.2  NT_007933.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the CYP51A1 gene promoter:
         MEF-2   Meis-1b   GATA-1   MEF-2A   Ik-2   POU2F1   POU2F1a   Meis-1a   aMEF-2   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): CYP51A1 promoter sequence
   Search Chromatin IP Primers for CYP51A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CYP51A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q21.2   Ensembl cytogenetic band:  7q21.2   HGNC cytogenetic band: 7q21.2

CYP51A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP51A1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M091741:  view genomic region     (about GC identifiers)

Start:
91,741,463 bp from pter      End:
91,772,266 bp from pter
Size:
30,804 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 91,070,701-91,093,297     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CP51A_HUMAN, Q16850 (See protein sequence)
Recommended Name: Lanosterol 14-alpha demethylase  
Size: 503 amino acids; 56806 Da
Cofactor: Heme group
Sequence caution: Sequence=AAB39951.1; Type=Erroneous initiation; Sequence=AAB46356.1; Type=Erroneous initiation;
Sequence=AAH32322.1; Type=Erroneous initiation; Sequence=BAA09512.1; Type=Erroneous initiation;
Sequence=BAG36881.1; Type=Erroneous initiation; Sequence=EAL24154.1; Type=Erroneous initiation;
Sequence=EAW76858.1; Type=Erroneous initiation;
3 PDB 3D structures from and Proteopedia for CYP51A1:
3JUS (3D)        3JUV (3D)        3LD6 (3D)    
Secondary accessions: A4D1F8 B2RAI4 B4DJ55 O00770 O00772 Q16784 Q8N1A8 Q99868
Alternative splicing: 2 isoforms:  Q16850-1   Q16850-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CYP51A1: NX_Q16850

Explore proteomics data for CYP51A1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys141, Lys160, Lys261, Lys266, Lys436
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CYP51A1 (Q16850) (see all 10)
     LTTPVFG  VFLEQKK  TPVFGKGV  PFGAGRHRC 


    See CYP51A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000777.1  NP_001139624.1  

    ENSEMBL proteins: 
     ENSP00000003100   ENSP00000406757   ENSP00000394268   ENSP00000412536  
    Reactome Protein details: Q16850

    CYP51A1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for CYP51A1

     
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    Cloud-Clone Corp. ELISAs for CYP51A1
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CYP: Cytochrome P450s

    IUPHAR Guide to PHARMACOLOGY protein family classification: CYP51A1
    CYP39, CYP46 and CYP51 families

    3 InterPro protein domains:
     IPR001128 Cyt_P450
     IPR017972 Cyt_P450_CS
     IPR002403 Cyt_P450_E_grp-IV

    Graphical View of Domain Structure for InterPro Entry Q16850

    ProtoNet protein and cluster: Q16850

    2 Blocks protein domains:
    IPB001254 Serine protease
    IPB002403 E-class P450 group IV signature


    UniProtKB/Swiss-Prot: CP51A_HUMAN, Q16850
    Similarity: Belongs to the cytochrome P450 family


    Find genes that share domains with CYP51A1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CP51A_HUMAN, Q16850
    Function: Catalyzes C14-demethylation of lanosterol; it transforms lanosterol into 4,4'-dimethyl
    cholesta-8,14,24-triene-3-beta-ol
    Catalytic activity: A 14-alpha-methylsteroid + 3 O(2) + 3 NADPH = a Delta(14)-steroid + formate + 3 NADP(+) + 4
    H(2)O

         Enzyme Number (IUBMB): EC 1.14.13.701 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding IEA--
    GO:0008398sterol 14-demethylase activity IDA--
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
    GO:0020037heme binding IDA--
         
    Find genes that share ontologies with CYP51A1           About GenesLikeMe


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cyp51):
     cardiovascular system  craniofacial  digestive/alimentary  homeostasis/metabolism  immune system 
     limbs/digits/tail  mortality/aging  muscle  no phenotypic analysis  skeleton 

    Find genes that share phenotypes with CYP51A1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cyp51tm1.1Bfro for CYP51A1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CYP51A1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CYP51A1

    miRNA
    Products:
        
    miRTarBase miRNAs that target CYP51A1:
    hsa-mir-15b-5p (MIRT046448), hsa-mir-155-5p (MIRT001555), hsa-mir-335-5p (MIRT018801), hsa-mir-34a-5p (MIRT025395)

    Block miRNA regulation of human, mouse, rat CYP51A1 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate CYP51A1:
    hsa-miR-1298 hsa-miR-502-5p hsa-miR-651 hsa-miR-590-3p hsa-miR-380
    SwitchGear 3'UTR luciferase reporter plasmidCYP51A1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CYP51A1
    Predesigned siRNA for gene silencing in human, mouse, rat CYP51A1

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for CYP51A1
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    GenScript: all cDNA clones in your preferred vector (see all 2): CYP51A1 (NM_000786)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CYP51A1
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    Addgene plasmids for CYP51A1 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP51A1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CP51A_HUMAN, Q16850: Endoplasmic reticulum membrane (Potential). Microsome membrane (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum4
    cytosol1
    extracellular1
    golgi apparatus1
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral component of membrane IEA--
    GO:0043231intracellular membrane-bounded organelle ----

    Find genes that share ontologies with CYP51A1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CYP51A1 About    
    See pathways by source

    SuperPathContained pathways About
    1superpathway of cholesterol biosynthesis
    superpathway of cholesterol biosynthesis0.85
    Steroid biosynthesis0.57
    Cholesterol biosynthesis0.85
    zymosterol biosynthesis0.00
    Cholesterol biosynthesis0.62
    cholesterol biosynthesis III (via desmosterol)0.00
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)0.59
    cholesterol biosynthesis I0.00
    2Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type0.75
    cytochrome P4500.74
    Phase 1 - Functionalization of compounds0.75
    Endogenous sterols0.00
    3Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.75
    SREBP signalling0.31
    Activation of Gene Expression by SREBP (SREBF)0.75
    4Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    5Biological oxidations
    Biological oxidations0.56
    metapathway biotransformation0.42


    Find genes that share SuperPaths with CYP51A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    Selected BioSystems Pathways for CYP51A1 (see all 9)
        Cholesterol biosynthesis
    cytochrome P450
    SREBP signalling
    zymosterol biosynthesis
    cholesterol biosynthesis I

    3 Reactome Pathways for CYP51A1
        Endogenous sterols
    Cholesterol biosynthesis
    Activation of gene expression by SREBF (SREBP)


    2 Kegg Pathways  (Kegg details for CYP51A1):
        Steroid biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: CP51A_HUMAN, Q16850
    Pathway: Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 1/6

        Pathway & Disease-focused RT2 Profiler PCR Array including CYP51A1: 

              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CYP51A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CYP51A1 (Q168503 ENSP000000031004) via UniProtKB, MINT, STRING, and/or I2D (see all 132)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGPAT1Q999433I2D: score=4 
    ENSG00000206324Q999433I2D: score=4 
    ENSG00000226467Q999433I2D: score=4 
    ENSG00000227642Q999433I2D: score=4 
    ENSG00000228892Q999433I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006694steroid biosynthetic process IDA--
    GO:0006695cholesterol biosynthetic process TAS--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0016125sterol metabolic process TAS--
    GO:0033488cholesterol biosynthetic process via 24,25-dihydrolanosterol IEA--

    Find genes that share ontologies with CYP51A1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CYP51A1 (CP51A)

    10 HMDB Compounds for CYP51A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    4,4-Dimethylcholesta-8,14,24-trienol(3beta,5alpha)-4,4-Dimethylcholesta-8,14,24-trien-3-ol (see all 11)64284-64-6--
    Delta 8,14 -Sterol4alpha-Methyl-5alpha-ergosta-8,14,24(28)-trien-3beta-ol (see all 5)74635-33-9--
    Formic acidAdd-F (see all 21)64-18-6--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    Lanosterin(3 beta)-Lanosta-8,24-dien-3-ol (see all 12)79-63-0--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--
    Obtusifoliol4,4-dimethyl-14alpha-hydroxymethyl-5alpha-cholesta-8,24-dien-3beta-ol (see all 2)----
    OxygenOxygen (see all 5)7782-44-7--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    5 DrugBank Compounds for CYP51A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    TioconazoleTioconazol [INN-Spanish] (see all 2)65899-73-2targetinhibitor17139284 17016423 15625110 10592235
    ItraconazoleITC (see all 5)84625-61-6targetinhibitor11752352 16964330 10608831
    1-[(2S)-2-[(4-CHLOROBENZYL)OXY]-2-(2,4-DICHLOROPHENYL)ETHYL]-1H-IMIDAZOLE-- --target--10592235
    Ketoconazole2% (see all 6)65277-42-1enzymeinhibitor19934256
    SertaconazoleSertaconazol [Spanish] (see all 2)99592-32-2enzymeinhibitor19934256

    Selected Novoseek inferred chemical compound relationships for CYP51A1 gene (see all 33)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lanosterol 96.7 109 14599667 (3), 15276168 (3), 16755030 (2), 9559662 (2) (see all 51)
    24,25-dihydrolanosterol 92.1 2 20037138 (1), 16000773 (1)
    sterol 88.8 146 12611652 (5), 16321980 (4), 9559662 (3), 12145339 (3) (see all 51)
    obtusifoliol 87.2 14 15311940 (3), 9559662 (2), 16543605 (1)
    azalanstat 84.9 2 7646560 (1), 16650467 (1)
    pyrrole 82.2 37 9527767 (4), 15944416 (4), 20507496 (2), 15311940 (2) (see all 18)
    sch39304 81.2 2 9210667 (1), 10731517 (1)
    prochloraz 80.3 5 11267777 (2), 11055899 (2)
    fluconazole 79.8 20 9061581 (2), 15314102 (2), 16079485 (1), 7492098 (1) (see all 13)
    ergosterol 79.8 14 12627386 (1), 16961575 (1), 9210667 (1), 9468503 (1) (see all 11)



    Find genes that share compounds with CYP51A1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CYP51A1 gene (2 alternative transcripts): 
    NM_000786.3  NM_001146152.1  

    Unigene Cluster for CYP51A1:

    Cytochrome P450, family 51, subfamily A, polypeptide 1
    Hs.417077  [show with all ESTs]
    Unigene Representative Sequence: NM_000786
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000003100(uc003ulm.4 uc011khn.2) ENST00000450723 ENST00000422867
    ENST00000482924 ENST00000435873
    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate CYP51A1:
    hsa-miR-1298 hsa-miR-502-5p hsa-miR-651 hsa-miR-590-3p hsa-miR-380
    SwitchGear 3'UTR luciferase reporter plasmidCYP51A1 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): CYP51A1 (NM_000786)
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      QuantiTect SYBR Green Assays in human, mouse, rat CYP51A1
      QuantiFast Probe-based Assays in human, mouse, rat CYP51A1

    Additional mRNA sequence: 

    AK295932.1 AK314205.1 BC018429.1 BC032322.1 D55653.1 U23942.1 

    21 DOTS entries:

    DT.95107368  DT.95097971  DT.100001389  DT.91755131  DT.121112404  DT.121112433  DT.97807487  DT.100816642 
    DT.120773790  DT.416930  DT.100816639  DT.121112427  DT.75145907  DT.91755129  DT.95097963  DT.95097964 
    DT.95097966  DT.95317210  DT.95097730  DT.95354754  DT.97845296 

    Selected AceView cDNA sequences (see all 246):

    BM126447 AA864975 BM839562 AA477781 AL041624 AA452440 AA643635 BM475969 
    BU784287 W74235 BM837940 BG562881 AU129401 BP362510 AA399409 AI582105 
    BX280377 BX342319 BQ029154 BM969614 CB993503 BM128040 CD358611 BU167401 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CYP51A1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c
    SP1:                                                              -                                 
    SP2:        -                                                                                       
    SP3:                                                                                                
    SP4:                                                                                                


    ECgene alternative splicing isoforms for CYP51A1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CYP51A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAAACTCTA
    CYP51A1 Expression
    About this image


    CYP51A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             XY Germ Cells Testis Cord
     
     Intermediate Mesoderm (Gastrulation Derivatives)
             Mesonephros
     
     Gonad
             XY Germ Cells Testis Cord
    CYP51A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CYP51A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.417077

    UniProtKB/Swiss-Prot: CP51A_HUMAN, Q16850
    Tissue specificity: Ubiquitously expressed with highest levels in testis, ovary, adrenal, prostate, liver, kidney
    and lung

        Pathway & Disease-focused RT2 Profiler PCR Array including CYP51A1: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CYP51A1 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cyp511 , 5 cytochrome P450, family 511, 5 88.53(n)1
    91.65(a)1
      5 (2.30 cM)5
    131211  NM_020010.21  NP_064394.21 
     40811455 
    chicken
    (Gallus gallus)
    Aves CYP51A11 cytochrome P450, family 51, subfamily A, polypeptide more 76.73(n)
    85.12(a)
      420548  NM_001048077.1  NP_001041542.1 
    lizard
    (Anolis carolinensis)
    Reptilia CYP51A16
    cytochrome P450, family 51, subfamily A, polypepti...
    80(a)
    1 ↔ 1
    6(21082402-21100434)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.253692 Xenopus laevis transcribed sequence with moderate similarity more 74.86(n)    BX846642.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb66a092 wufb66a09 72.31(n)   322573  CK027793.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERG11(YHR007C)4
    ERG111
    Lanosterol 14-alpha-demethylase; catalyzes the C-14 more4
    ERG111
    48.53(n)1
    39.06(a)1
      8(121683-120091)4
    8563981, 4  NP_011871.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CYP51G11 CYP51G1 48.16(n)
    39.74(a)
      837712  NM_101040.3  NP_172633.1 
    rice
    (Oryza sativa)
    Liliopsida Os11g05252001 Os11g0525200 46.42(n)
    38.18(a)
      4350614  NM_001074523.1  NP_001067991.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CYP51A1 gene
    CYP26A12  CYP26B12  CYP26C12  

    Find genes that share paralogs with CYP51A1           About GenesLikeMe


    3 Pseudogenes.org Pseudogenes for CYP51A1
    PGOHUM00000248345 PGOHUM00000237670 PGOHUM00000243811


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CYP51A1 (see all 388)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1842132871,2
    Cuntested195054361(+) AGAAAG/TCATTT 2 -- int10--------
    rs102314961,2
    C,F,A,H--91741132(+) ATGCAT/CCTCAA 2 -- ds500123Minor allele frequency- C:0.45NS EA NA WA CSA 2349
    rs2019920721,2
    --91741151(+) TAGTC-/TGTGATT 2 -- ds50010--------
    rs1823668701,2
    --91741221(+) CTCGGG/TGTCGT 2 -- ds50010--------
    rs1438094931,2
    C--91741312(+) AATAA-/ATA   
       CTGCT
    AATGC
    2 -- ds50010--------
    rs1430340521,2
    --91741329(+) AATTCA/GTAATT 2 -- ds50010--------
    rs557762121,2
    C--91741518(+) CTTCAC/TAATTA 2 -- ut310--------
    rs1883617811,2
    --91741650(+) GGCCCC/TGAGTT 2 -- ut310--------
    rs1925937561,2
    --91741664(+) ATTTGA/CGATAA 2 -- ut310--------
    rs1854125161,2
    --91741872(+) GGTGCA/GGTGGC 2 -- ut310--------

    HapMap Linkage Disequilibrium report for CYP51A1 (91741463 - 91772266 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for CYP51A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv270450CNV Insertion20981092
    nsv5839CNV Insertion18451855
    esv272316CNV Insertion20981092
    nsv888735CNV Loss21882294
    nsv888734CNV Loss21882294

    Human Gene Mutation Database (HGMD): CYP51A1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CYP51A1
    DNA2.0 Custom Variant and Variant Library Synthesis for CYP51A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601637    OMIM disorders: --

    2 diseases for CYP51A1:    
    About MalaCards
    chagas disease    antley-bixler syndrome

    3 diseases from the University of Copenhagen DISEASES database for CYP51A1:
    Antley-Bixler syndrome     Chagas disease     Candidiasis

    Find genes that share disorders with CYP51A1           About GenesLikeMe

    5 Novoseek inferred disease relationships for CYP51A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    infection fungal 50.3 7 17194716 (1), 10398344 (1), 18694951 (1), 15314102 (1)
    tuberculosis 47.4 27 16819841 (2), 11373285 (2), 15611056 (2), 17630911 (2) (see all 16)
    chagas disease 45.5 3 16321980 (1), 20429511 (1)
    leukemia 0 2 15383319 (1), 15904877 (1)
    cancer 0 3 17194716 (1), 20429511 (1)

    Genetic Association Database (GAD): CYP51A1
    Human Genome Epidemiology (HuGE) Navigator: CYP51A1 (3 documents)

    Export disorders for CYP51A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CYP51A1 gene, integrated from 10 sources (see all 175):
    (articles sorted by number of sources associating them with CYP51A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 8975714)1, 2, 3, 9 Rozman D.... Waterman M.R. (Genomics 1996)
    2. The ubiquitously expressed human CYP51 encodes lanosterol 14 alpha- demethylase, a cytochrome P450 whose expression is regulated by oxysterols. (PubMed id 8619637)1, 2, 9 Stroemstedt M.... Waterman M.R. (Arch. Biochem. Biophys. 1996)
    3. 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. (PubMed id 8809088)1, 2, 9 Rozman D.... Waterman M.R. (Arch. Biochem. Biophys. 1996)
    4. Structural basis of human CYP51 inhibition by antifungal azoles. (PubMed id 20149798)1, 2, 9 Strushkevich N.... Park H.W. (J. Mol. Biol. 2010)
    5. Sterol 14-demethylase P450 (P45014DM*) is one of the most ancient and conserved P450 species. (PubMed id 8797093)1, 2, 9 Aoyama Y.... Yoshida Y. (J. Biochem. 1996)
    6. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (J. Lipid Res. 2008)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    10. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1595 HGNC: 2649 AceView: CYP51A1 Ensembl:ENSG00000001630 euGenes: HUgn1595
    ECgene: CYP51A1 Kegg: 1595 H-InvDB: CYP51A1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CYP51A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CYP51A1 gene:
    Search GeneIP for patents involving CYP51A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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