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CYP46A1 Gene

protein-coding   GIFtS: 58
GCID: GC14P100150

Cytochrome P450, Family 46, Subfamily A, Polypeptide 1

(Previous names: cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase))
(Previous symbol: CYP46)
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Aliases
for CYP46A1 gene

(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 46, Subfamily A, Polypeptide 11 2     CH24H2 3
CYP461 2 3 5     CP462
Cytochrome P450, Subfamily 46 (Cholesterol 24-Hydroxylase)1 2     Cholesterol 24-Hydroxylase2
Cytochrome P450 46A12 3     EC 1.14.13.983

External Ids:    HGNC: 26411   Entrez Gene: 108582   Ensembl: ENSG000000365307   OMIM: 6040875   UniProtKB: Q9Y6A23   

Export aliases for CYP46A1 gene to outside databases

Previous GC identifers: GC14P093966 GC14P098140 GC14P099220 GC14P080333


Summaries
for CYP46A1 gene

(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 CYP46A1 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 is expressed in the brain, where it converts cholesterol to
24S-hydroxycholesterol. While cholesterol cannot pass the blood-brain barrier, 24S-hydroxycholesterol can be
secreted in the brain into the circulation to be returned to the liver for catabolism. (provided by RefSeq, Jul
2008)

GeneCards Summary for CYP46A1 Gene:
CYP46A1 (cytochrome P450, family 46, subfamily A, polypeptide 1) is a protein-coding gene. Diseases associated with CYP46A1 include cerebral amyloid angiopathy, and primary open angle glaucoma. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP19A1.

UniProtKB/Swiss-Prot: CP46A_HUMAN, Q9Y6A2
Function: Involved in the turnover of cholesterol. It converts cholesterol into 24S-hydroxycholesterol and, to a
lesser extent, 25-hydroxycholesterol. Has also activity with xenobiotic compounds, such as clotrimazole

Gene Wiki entry for CYP46A1 Gene


Genomic Views
for CYP46A1 gene

(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:
NC_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CYP46A1 gene promoter:
         AhR   Tal-1beta   Arnt   PPAR-gamma1   CP2   FOXJ2 (long isoform)   Chx10   PPAR-gamma2   FOXJ2   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CYP46A1 promoter sequence
   Search Chromatin IP Primers for CYP46A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CYP46A1


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

Entrez Gene cytogenetic band: 14q32.1   Ensembl cytogenetic band:  14q32.2   HGNC cytogenetic band: 14q32.2

CYP46A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP46A1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P100150:  view genomic region     (about GC identifiers)

Start:
 100,150,641 bp from pter      End:
 100,193,638 bp from pter
Size:
 42,998 bases      Orientation:
 plus strand

Proteins
for CYP46A1 gene

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CP46A_HUMAN, Q9Y6A2 (See protein sequence)
Recommended Name: Cholesterol 24-hydroxylase  
Size: 500 amino acids; 56821 Da
Cofactor: Heme group
Selected PDB 3D structures from and Proteopedia for CYP46A1 (see all 9):
2Q9F (3D)        2Q9G (3D)        3MDM (3D)        3MDR (3D)        3MDT (3D)        3MDV (3D)    
Secondary accessions: B4DHP8 E7EQG9 Q8N2B0
Alternative splicing: 3 isoforms:  Q9Y6A2-1   Q9Y6A2-2   Q9Y6A2-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CYP46A1: NX_Q9Y6A2

Explore proteomics data for CYP46A1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

    • See CYP46A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006659.1  
    ENSEMBL proteins: 
     ENSP00000451069   ENSP00000261835   ENSP00000369577   ENSP00000450553   ENSP00000452151  
     ENSP00000451602   ENSP00000405779  
    Reactome Protein details: Q9Y6A2

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    Domains /
    Families
    for CYP46A1 gene

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

    TryGeneCards Plus    		 HGNC Gene Families:
    CYP: Cytochrome P450s

    IUPHAR Guide to PHARMACOLOGY protein family classification: CYP46A1
    CYP39, CYP46 and CYP51 families

    3 InterPro protein domains:
     IPR001128 Cyt_P450
     IPR017972 Cyt_P450_CS
     IPR002401 Cyt_P450_E_grp-I

    Graphical View of Domain Structure for InterPro Entry Q9Y6A2

    ProtoNet protein and cluster: Q9Y6A2

    UniProtKB/Swiss-Prot: CP46A_HUMAN, Q9Y6A2
    Similarity: Belongs to the cytochrome P450 family


    CYP46A1 for domains           About GeneDecksing


    Function
    for CYP46A1 gene

    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CP46A_HUMAN, Q9Y6A2
    Function: Involved in the turnover of cholesterol. It converts cholesterol into 24S-hydroxycholesterol and, to a
    lesser extent, 25-hydroxycholesterol. Has also activity with xenobiotic compounds, such as clotrimazole
    Catalytic activity: Cholesterol + NADPH + O(2) = (24S)-24-hydroxycholesterol + NADP(+) + H(2)O
    Biophysicochemical properties: Kinetic parameters: KM=2.2 uM for 24(S)-hydroxycholesterol;

         Enzyme Number (IUBMB): EC 1.14.13.981

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004497monooxygenase activity ----
    GO:0005506iron ion binding IEA--
    GO:0008395steroid hydroxylase activity TAS10377398
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
    GO:0020037heme binding IDA18621681
         
    CYP46A1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Cyp46a1):
     homeostasis/metabolism 

    CYP46A1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CYP46A1
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    hsa-miR-3152-3p hsa-let-7d hsa-let-7c hsa-miR-3162-5p hsa-let-7g hsa-let-7a hsa-miR-877 hsa-miR-98
    SwitchGear 3'UTR luciferase reporter plasmid: CYP46A1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CYP46A1

    Gene Editing
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    Localization
    for CYP46A1 gene

    (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
    CP46A_HUMAN, Q9Y6A2: Endoplasmic reticulum membrane; Single-pass membrane protein. Microsome membrane;
    Single-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus2
    extracellular1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum TAS10377398
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral component of membrane IEA--

    CYP46A1 for ontologies           About GeneDecksing


    Pathways & Interactions
    for CYP46A1 gene

    (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 CYP46A1 About    
    See pathways by source

    SuperPathContained pathways About
    1Cytochrome P450 - arranged by substrate type
    		Cytochrome P450 - arranged by substrate type0.75
    		cytochrome P4500.74
    		Phase 1 - Functionalization of compounds0.75
    		Endogenous sterols0.00
    2Synthesis of bile acids and bile salts
    		Synthesis of bile acids and bile salts0.88
    		Synthesis of bile acids and bile salts via 24-hydroxycholesterol0.00
    		Bile acid and bile salt metabolism0.73
    		Primary bile acid biosynthesis0.00
    3Biological oxidations
    		Biological oxidations0.56
    		metapathway biotransformation0.42
    4Metabolism
    		Metabolism0.38
    		Metabolism of lipids and lipoproteins0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show some pathways


    2 BioSystems Pathways for CYP46A1
        cytochrome P450
    metapathway biotransformation


    2 Reactome Pathways for CYP46A1
        Synthesis of bile acids and bile salts via 24-hydroxycholesterol
    Endogenous sterols


    1 Kegg Pathway  (Kegg details for CYP46A1):
        Primary bile acid biosynthesis


    CYP46A1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including CYP46A1: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CYP46A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for CYP46A1 (ENSP000002618354) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CYP27A1ENSP000002584154STRING: ENSP00000258415
    CYP39A1ENSP000002750164STRING: ENSP00000275016
    CYP7A1ENSP000003016454STRING: ENSP00000301645
    CELENSP000003611514STRING: ENSP00000361151
    DHCR24ENSP000003603164STRING: ENSP00000360316
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006699bile acid biosynthetic process TAS--
    GO:0006707cholesterol catabolic process IDA18621681
    GO:0006805xenobiotic metabolic process TAS--
    GO:0007399nervous system development TAS10377398
    GO:0008206bile acid metabolic process TAS--

    CYP46A1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for CYP46A1 gene

    (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)
    About This Section

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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 CYP46A1 (CP46A)

    7 HMDB Compounds for CYP46A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    24-Hydroxycholesterol(24S)-24-Hydroxycholesterol (see all 13)474-73-7--
    Cholesterol(+)-ent-Cholesterol (see all 39)57-88-5--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    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--
    OxygenOxygen (see all 5)7782-44-7--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    3 Novoseek inferred chemical compound relationships for CYP46A1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    24s-hydroxy-cholesterol 98 43 15975088 (5), 16321981 (3), 19553612 (3), 19286353 (2) (see all 22)
    lathosterol 71.8 2 15975088 (1), 20298807 (1)
    cholesterol 71.2 155 20502497 (7), 19286353 (4), 16321981 (4), 16734927 (4) (see all 43)



    CYP46A1 for compounds           About GeneDecksing



    Transcripts
    for CYP46A1 gene

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CYP46A1 gene: 
    NM_006668.1  

    Unigene Cluster for CYP46A1:

    Cytochrome P450, family 46, subfamily A, polypeptide 1
    Hs.25121  [show with all ESTs]
    Unigene Representative Sequence: AB209749
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000554611(uc001ygn.1) ENST00000261835(uc001ygo.3) ENST00000380228
    ENST00000554176(uc001ygp.3) ENST00000554917 ENST00000556313 ENST00000556822
    ENST00000423126

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    hsa-miR-3152-3p hsa-let-7d hsa-let-7c hsa-miR-3162-5p hsa-let-7g hsa-let-7a hsa-miR-877 hsa-miR-98
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    Additional mRNA sequence: 

    AB209749.1 AF094480.1 AK090886.1 AK295216.1 BC022539.1 BC128037.1 

    3 DOTS entries:

    DT.108005  DT.120794727  DT.97821898 

    Selected AceView cDNA sequences (see all 31):

    CD623075 AF094480 NM_006668 BU070694 BC022539 BU070933 BM727874 AI554732 
    BM805680 AK090886 BQ066937 CD623081 AA961615 AW469811 BU741551 H06539 
    CD623079 BI552024 AA760981 BG704256 BM548130 CF456253 H16164 BF930893 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for CYP46A1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15
    SP1:                                -                                                                     
    SP2:                                                                                -                     


    ECgene alternative splicing isoforms for CYP46A1

    Expression
    for CYP46A1 gene

    (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)
    About This Section

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    CYP46A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCCTTCCTG
    CYP46A1 Expression
    About this image


    CYP46A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Thalamus
             Globus Pallidus   
    CYP46A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    CYP46A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.25121

    UniProtKB/Swiss-Prot: CP46A_HUMAN, Q9Y6A2
    Tissue specificity: Expressed in brain. The mRNA was broadly distributed with higher levels in gray matter zones
    and lower levels in regions rich in white matter. Not detected in fetal sample but its expression increases
    linearly with age

        Pathway & Disease-focused RT2 Profiler PCR Array including CYP46A1: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

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    In Situ
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    Orthologs
    for CYP46A1 gene

    (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

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CYP46A1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Cyp46a11 , 5 cytochrome P450, family 46, subfamily a, polypeptide more1, 5 89.6(n)1
    94.8(a)1    		   12 (59.41 cM)5
    131161  NM_010010.11  NP_034140.11 
     1083343815 
    chicken
    (Gallus gallus)    		 Aves CYP46A11 cytochrome P450, family 46, subfamily A, polypeptide more 66.52(n)
    60.21(a)    		   423450  NM_001252027.1  NP_001238956.1 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    		 Uncharacterized protein
    		 53(a)
    51(a)
    		 1 ↔ many
    1 ↔ many
    		 GL343270.1(1499233-1521092)
    GL343270.1(1476011-1494012)
    African clawed frog
    (Xenopus laevis)    		 Amphibia MGC644042 hypothetical protein MGC64404 72.81(n)    BC054222.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc636022 hypothetical protein MGC63602 74.19(n)   393433  BC055161.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Cyp310a16
    		 Cyp310a1
    		 18(a)
    		 1 → many
    		 2L(18651058-18652999)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons CYP97A31 CYP97A3 40.64(n)
    29.64(a)    		   840067  NM_102914.3  NP_564384.1 
    rice
    (Oryza sativa)    		 Liliopsida Os02g08179001 Os02g0817900 44.22(n)
    30.61(a)    		   4331152  NM_001055061.1  NP_001048526.1 


    ENSEMBL Gene Tree for CYP46A1 (if available)
    TreeFam Gene Tree for CYP46A1 (if available)

    Paralogs
    for CYP46A1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CYP46A1 gene
    CYP19A12  CYP11B12  CYP24A12  CYP11B22  CYP27B12  CYP11A12  CYP27A12  CYP27C12  
    3 SIMAP similar genes for CYP46A1 using alignment to 5 protein entries:     CP46A_HUMAN (see all proteins):
    CYP3A43    CYP3A5    CYP4B1

    CYP46A1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CYP46A1
    PGOHUM00000261896


    Genomic Variants
    for CYP46A1 gene

    (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 CYP46A1 (see all 952)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 14 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1874910291,2
    		Cuntested181175142(+) GAGATC/TGTGGC 2 I syn10--------
    rs2003721921,2
    		--80334675(+) CCCCC-/CCCA  
                CCCCC     		1 -- int10--------
    rs2017044571,2
    		--80334676(+) CCCCC-/CCACCCCC 1 -- int10--------
    rs1997151371,2
    		--80334677(+) CCCCC-/CACCCCC 1 -- int10--------
    rs284067361,2
    		C--80334678(+) CCCCCC/ACCCCC 1 -- int12Minor allele frequency- A:0.00NA 4
    rs1427645051,2
    		C--80334678(+) CCCCC-/ACCCCC 1 -- int10--------
    rs345914571,2
    		C--80351665(+) AAAAA-/GAAAAA 1 -- int10--------
    rs352677151,2
    		C--80363036(+) AAAAA-/A/AAA 
                TTAAT     		2 -- int1 cds11CSA 2
    rs1459263111,2
    		C--80363036(+) ATCTC-/AAAAAAA 1 -- int10--------
    rs355347171,2
    		C--80364361(+) ATCTC-/AAAAAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for CYP46A1 (100150641 - 100193638 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for CYP46A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv902223CNV Loss21882294
    nsv470667CNV Loss18288195
    dgv1978n71CNV Loss21882294
    nsv1423CNV Loss18451855

    Human Gene Mutation Database (HGMD): CYP46A1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CYP46A1
    DNA2.0 Custom Variant and Variant Library Synthesis for CYP46A1

    Disorders / Diseases
    for CYP46A1 gene

    (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

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    OMIM gene information: 604087    OMIM disorders: --

    14 diseases for CYP46A1:    
    About MalaCards
    cerebral amyloid angiopathy    primary open angle glaucoma    open-angle glaucoma    traumatic brain injury
    age related macular degeneration    brain injury    keratoconus    glaucoma
    alzheimer's disease    dementia    cerebritis    tuberculosis
    hepatitis    neuronitis

    1 disease from the University of Copenhagen DISEASES database for CYP46A1:
    Alzheimer's disease

    CYP46A1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    3 Novoseek inferred disease relationships for CYP46A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 71.6 45 19286353 (2), 15034781 (2), 19363267 (2), 15106838 (2) (see all 25)
    neurodegeneration 40.8 1 19553612 (1)
    senile plaques 38.1 6 15148325 (2), 15331159 (1)

    Genetic Association Database (GAD): CYP46A1
    Human Genome Epidemiology (HuGE) Navigator: CYP46A1 (34 documents)

    Export disorders for CYP46A1 gene to outside databases

    Publications
    for CYP46A1 gene

    (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

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    PubMed articles for CYP46A1 gene, integrated from 10 sources (see all 81):
    (articles sorted by number of sources associating them with CYP46A1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning of cholesterol 24-hydroxylase, a mediator of cholesterol homeostasis in the brain. (PubMed id 10377398)1, 2, 3, 9 Lund E.G.... Russell D.W. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    2. Crystal structures of substrate-bound and substrate-free cytochrome P450 46A1, the principal cholesterol hydroxylase in the brain. (PubMed id 18621681)1, 2, 9 Mast N....Pikuleva I.A. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    3. Cholesterol 24-hydroxylase (CYP46A1) polymorphisms are associated with faster cognitive deterioration in Chinese older persons: a two-year follow up study. (PubMed id 19212968)1, 4, 9 Fu B.Y....Lam L.C. (Int J Geriatr Psychiatry 2009)
    4. CYP46A1 variants influence Alzheimer's disease risk and brain cholesterol metabolism. (PubMed id 19286353)1, 4, 9 KAPlsch H....Heun R. (Eur. Psychiatry 2009)
    5. Polymorphisms of the cholesterol 24-hydroxylase (CYP46A1) gene and the risk of Alzheimer's disease in a Chinese population. (PubMed id 16734927)1, 4, 9 Ma S.L....Chiu H.F. (Int Psychogeriatr 2006)
    6. CYP46: a risk factor for Alzheimer's disease or a coincidence? (PubMed id 15936520)1, 4, 9 Golanska E....Liberski P.P. (Neurosci. Lett. 2005)
    7. Variants of CYP46A1 may interact with age and APOE to influence CSF Abeta42 levels in Alzheimer's disease. (PubMed id 15034781)1, 4, 9 Johansson A....Prince J.A. (Hum. Genet. 2004)
    8. Lack of association of the cholesterol 24-hydroxylase (CYP46) intron 2 polymorphism with Alzheimer's disease. (PubMed id 15331159)1, 4, 9 Ingelsson M....Rebeck G.W. (Neurosci. Lett. 2004)
    9. Increased brain beta-amyloid load, phosphorylated tau, and risk of Alzheimer disease associated with an intronic CYP46 polymorphism. (PubMed id 12533085)1, 4, 9 Papassotiropoulos A....Hock C. (Arch. Neurol. 2003)
    10. Intronic CYP46 polymorphism along with ApoE genotype in sporadic Alzheimer Disease: from risk factors to disease modulators. (PubMed id 15165699)1, 4, 9 Borroni B....Padovani A. (Neurobiol. Aging 2004)

    External Searches for CYP46A1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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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)

    Genome Databases showing CYP46A1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 10858 HGNC: 2641 AceView: CYP46A1 Ensembl:ENSG00000036530 euGenes: HUgn10858
    ECgene: CYP46A1 Kegg: 10858 H-InvDB: CYP46A1

    Other Databases showing CYP46A1 gene

    (According to HUGE)
    About This Section

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    Specialized Databases showing CYP46A1 gene

    (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 CYP46A1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for CYP46A1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		Patent Information for CYP46A1 gene:
    Search GeneIP for patents involving CYP46A1

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



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