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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

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 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Cholesterol biosynthesis and Cytochrome P450 - arranged by substrate type. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007933.15  NT_079595.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CYP51A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CP51A_HUMAN, Q16850 (See protein sequence)
Recommended Name: Lanosterol 14-alpha demethylase  
Size: 503 amino acids; 56806 Da
Cofactor: Heme group
Subcellular location: Endoplasmic reticulum membrane (Potential). Microsome membrane (Potential)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q16850

  • 4/10 DME Specific Peptides for CYP51A1 (Q16850) (see all 10)
     LTTPVFG  VFLEQKK  TPVFGKGV  PFGAGRHRC 

    CYP51A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CYP51A1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000777.1  NP_001139624.1  

    ENSEMBL proteins: 
     ENSP00000003100   ENSP00000406757   ENSP00000394268   ENSP00000412536  
    Reactome Protein details: Q16850
    Human Recombinant Protein Products for CYP51A1: 
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    Cloud-Clone Corp. Proteins for CYP51A1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral to membrane IEA--
    GO:0043231intracellular membrane-bounded organelle ----

    CYP51A1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    CYP51A1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding IEA--
    GO:0008398sterol 14-demethylase activity IDA--
    GO:0009055electron carrier activity IEA--
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
    GO:0020037heme binding IDA--
         
    CYP51A1 for ontologies           About GeneDecksing


    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 

    CYP51A1 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CYP51A1 
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    miRNA
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    miRTarBase miRNAs that target CYP51A1:
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    5 QIAGEN miScript miRNA 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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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CYP51A1 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1cholesterol biosynthesis III (via desmosterol)
    Cholesterol biosynthesis0.85
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)0.59
    superpathway of cholesterol biosynthesis0.85
    cholesterol biosynthesis I0.59
    Cholesterol biosynthesis0.62
    Steroid biosynthesis0.48
    cholesterol biosynthesis III (via desmosterol)0.59
    zymosterol biosynthesis0.46
    2Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type0.75
    Phase 1 - Functionalization of compounds0.74
    cytochrome P4500.75
    3Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.67
    SREBP signalling0.37
    Activation of Gene Expression by SREBP (SREBF)0.67
    4Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    5Biological oxidations
    Biological oxidations0.55
    metapathway biotransformation0.41

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/9 BioSystems Pathways for CYP51A1 (see all 9)
        cytochrome P450
    Cholesterol biosynthesis
    SREBP signalling
    zymosterol biosynthesis
    cholesterol biosynthesis I

    5/9        Reactome Pathways for CYP51A1 (see all 9)
        Cytochrome P450 - arranged by substrate type
    Metabolism
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Endogenous sterols
    Biological oxidations


    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


    CYP51A1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CYP51A1

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

    5/114 Interacting proteins for CYP51A1 (Q168503 ENSP000000031004) via UniProtKB, MINT, STRING, and/or I2D (see all 114)

    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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    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--

    CYP51A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CYP51A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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

    10/33 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)

    Search CenterWatch for drugs/clinical trials and news about CYP51A1 / CP51A

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
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    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 

    24/246 AceView cDNA sequences (see all 246):

    AA864975 AA643635 AI582105 BQ029154 AA452440 BM839562 CB993503 BP362510 
    BM969614 AI217668 BG562881 AA828679 AA399409 BM475969 BM126447 AL041624 
    BC032322 AA477781 W74235 BM837940 BU167401 BG054754 BX280377 AU129401 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CYP51A1 expression in normal human tissues (normalized intensities)      CYP51A1 embryonic expression: see
    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 
     5/18 selected tissues (see all 18) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
             brain/midbrain   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Kidney (Reproductive System)    fully expand to see all 3 entries
             visceral organ/mesonephros of female/mesonephric mesenchyme of female mesonephros   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             XY Germ Cells Testis Cord
     
     Eye (Sensory Organs)
             Retina

    See CYP51A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CYP51A1

    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

        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CYP51A1 gene from 8/19 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 88.27(n)1
    91.25(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 77.83(n)
    87.33(a)
      420548  NM_001048077.1  NP_001041542.1 
    lizard
    (Anolis carolinensis)
    Reptilia CYP51A16
    Uncharacterized protein
    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
    Erg11p1
    48.56(n)1
    39.09(a)1
      8(121683-120091)4
    8563981, 4  NP_011871.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CYP51G11 cytochrome P450, family 51 (sterol 14-demethylase) 48.16(n)
    39.74(a)
      837712  NM_101040.3  NP_172633.1 
    rice
    (Oryza sativa)
    Liliopsida Os11g05252001 hypothetical protein 46.55(n)
    38.13(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)
    About This Section
    Paralogs for CYP51A1 gene
    CYP26A12  CYP26B12  CYP26C12  CYP46A12  

    CYP51A1 for paralogs           About GeneDecksing


    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/388 SNPs in CYP51A1 are shown (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--------
    VAR_0234704
    ----see VAR_0234702 V A mis40--------
    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--------

    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
    SABiosciences Cancer Mutation PCR Assays
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    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601637    OMIM disorders: --

    9 diseases for CYP51A1:    About MalaCards
    chagas disease    antley-bixler syndrome    cytochrome p450    synostosis
    candidiasis    tuberculosis    colorectal cancer    leukemia
    prostatitis

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

    CYP51A1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for CYP51A1 gene, integrated from 9 sources (see all 173):
    (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. (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. (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. (1996)
    4. Structural basis of human CYP51 inhibition by antifun gal azoles. (PubMed id 20149798)1, 2, 9 Strushkevich N....Park H.W. (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. (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. (2008)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2004)
    9. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    10. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 1595 HGNC: 2649 AceView: CYP51A1 Ensembl:ENSG00000001630 euGenes: HUgn1595
    ECgene: CYP51A1 Kegg: 1595 H-InvDB: CYP51A1

    (According to HUGE)
    About This Section
      --

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