CYP46A1 Gene
protein-coding GIFtS : 57
GC14P099220
cytochrome P450, family 46, subfamily A, polypeptide 1 (Previous names: cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase) )Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database (Previous symbol: CYP46 )
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Aliases & Descriptions for CYP46A1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases CH24H 3 CP46 2 CYP46 2 , 3 , 5 EC 1.14.13.98 3
Descriptions Cytochrome P450 46A1 3 cholesterol 24-hydroxylase 2 cytochrome P450, family 46 2 cytochrome P450, family 46, subfamily A, polypeptide 1 2 cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase) 1 , 2
Search outside databases for aliases for CYP46A1 genePrevious GC identifers: GC14P093966 GC14P098140
Summaries for CYP46A1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for CYP46A1 : This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450proteins are monooxygenases which catalyze many reactions involved in drug metabolism andsynthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein isexpressed in the brain, where it converts cholesterol to 24S-hydroxycholesterol. While cholesterolcannot pass the blood-brain barrier, 24S-hydroxycholesterol can be secreted in the brain into thecirculation to be returned to the liver for catabolism. [provided by RefSeq] UniProtKB/Swiss-Prot: CP46A_HUMAN, Q9Y6A2 Function : Involved in the turnover of cholesterol. It converts cholesterol into24S-hydroxycholesterol and, to a lesser extent, 25-hydroxycholesterol
Gene Wiki entry for CYP46A1
Genomic Location for CYP46A1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the CYP46A1 gene Entrez Gene cytogenetic band: 14q32.1 Ensembl cytogenetic band: 14q32.2 HGNC cytogenetic band: 14q32.1 CYP46A1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 14 GeneLoc Exon Structure
GeneLoc location for GC14P099220:
(about GC identifiers )
Start:
99,220,407 bp from pter
End:
99,263,391 bp from pter
Size:
42,985 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000014.7 NT_026437.11 Proteins for CYP46A1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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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 (By similarity)
Subcellular location : Endoplasmic reticulum membrane; Single-pass membrane protein. Microsomemembrane; Single-pass membrane protein
PDB structure from and Proteopedia : 2Q9F (3D)
 2Q9G (3D)
 
REFSEQ proteins: NP_006659.1 ENSEMBL proteins: ENSP00000369577 ENSP00000261835 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for CYP46A1: Assays for CYP46A1:
Protein
Domains/ Families for CYP46A1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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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
Gene Function for CYP46A1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_006668 Applied Biosystems Silencer ® siRNAs for CYP46A1 Sigma-Aldrich siRNA and siRNA Panels for CYP46A1 Sigma-Aldrich shRNA for CYP46A1 Explore Sigma-Aldrich super-pooled esiRNAs               OriGene GFP tagged cDNA clone in CMV expression vector: NM_006668                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_006668                                  untagged cDNA clone in CMV expression vector: NM_006668  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_006668 UniProtKB/Swiss-Prot: CP46A_HUMAN, Q9Y6A2 Function : Involved in the turnover of cholesterol. It converts cholesterol into24S-hydroxycholesterol and, to a lesser extent, 25-hydroxycholesterol Catalytic activity : Cholesterol + NADPH + O(2) = (24S)-24-hydroxycholesterol + NADP(+) + H(2)OBiophysicochemical properties : Kinetic parameters: KM=2.2 uM for 24(S)-hydroxycholesterol;Enzyme Number (IUBMB): EC 1.14.13.98
1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Cyp46a1) :5 Gene Ontology (GO) molecular function terms (links to tree view) :
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Pathways & Interactions for CYP46A1
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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4 Sigma-Aldrich "Your Favorite Gene" Pathways for CYP46A1 (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for CYP46A1 5/7 Interacting proteins for CYP46A1 (ENSP00000261835 3 ) via UniProtKB, MINT, and/or STRING (see all 7
)About this table 5 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for CYP46A1 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Enzo Life Sciences drugs & compounds for CYP46A1
Browse Tocris compounds for CYP46A1 3 Novoseek chemical compound relationships for CYP46A1 gene
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Transcripts for CYP46A1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_006668 Sigma-Aldrich siRNA and siRNA Panels for CYP46A1 Sigma-Aldrich shRNA for CYP46A1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_006668
REFSEQ mRNAs for CYP46A1 gene: NM_006668.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_006668
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_006668                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_006668                                  untagged cDNA clone in CMV expression vector: NM_006668  
Additional cDNA sequence: AB209749.1 AF094480.1 AK090886.1 AK295216.1 BC022539.1 BC128037.1
3 DOTS entries : DT.108005 DT.120794727 DT.97821898
24/31 AceView cDNA sequences (see all 31
):NM_006668 BU070694 CD623075 AF094480 BC022539 H06539 CD623079 BU741551 AI554732 BM727874 CD623081 BI552024 AW469811 AA961615 BQ066937 AK090886 BM805680 BU070933 BG704256 CF456253 BM548130 AA760981 CD623072 BF930893
highest scoring ESTs for CYP46A1 :AA961615 AF094480 AK090886 BC022539 BF930893 BM805680 H51951 AA760981 AI554732 AW469811
Unigene Cluster for CYP46A1: Cytochrome P450, family 46, subfamily A, polypeptide 1 Hs.25121 [show with all ESTs ] Unigene Representative Sequence: AB209749 GeneLoc Exon Structure 2 Alternative Splicing Database (ASD) splice patterns (SP) for CYP46A1 ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 SP1 :           -                         SP2 :                           -        
About this scheme ECgene alternative splicing isoforms for CYP46A1 2 Ensembl transcripts including schematic representations : ENST00000380228
ENST00000261835
Expression for CYP46A1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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CYP46A1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for CYP46A1 1 / 2 / 3
3 probe-sets matching CYP46A1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GCCCTTCCTGSOURCE 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 graymatter zones and lower levels in regions rich in white matter. Not detected in fetal sample butits expression increases linearly with age
Orthologs for CYP46A1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for CYP46A1 gene from 5/11 species (see all 11
)
Organism
Gene
Locus
Description
Human Similarity
NCBI accessions
dog (Canis familiaris)
LOC4804321
--
similar to Cytochrome p450 46A1 (Cholesterol 24-hydroxylase)
90.25(n) 94.1(a)
480432 XM_537552.2 XP_537552.2
chimpanzee (Pan troglodytes)
CYP46A11
--
cytochrome P450, family 46, subfamily A, polypeptide more
99.42(n) 99.78(a)
453154 XM_510158.2 XP_510158.2
cow (Bos taurus)
CYP46A11
--
cytochrome P450, family 46, subfamily A, polypeptide more
90.33(n) 93(a)
506438 NM_001076810.1 NP_001070278.1
rat (Rattus norvegicus)
Cyp46a11
--
cytochrome P450, family 46, subfamily a, polypeptide more
89.73(n) 95(a)
362782 XM_343108.3 XP_343109.1
mouse (Mus musculus)
Cyp46a11 , 5
125
cytochrome P450, family 46, subfamily a, polypeptide more 1, 5
89.6(n) 1 94.8(a) 1
13116 1 NM_010010.1 1 NP_034140.1 1 AF094479 5 AK140740 5 (see all 7 )
About this table Species with no ortholog for CYP46A1 ENSEMBL Gene Tree for CYP46A1 Paralogs for CYP46A1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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--
SNPs/Variants for CYP46A1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for CYP46A1 (up to first 250kb)
Disorders & Mutations for CYP46A1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 604087 2 Novoseek disease relationships for CYP46A1 gene
About this table Human Gene Mutation Database : CYP46A1 Genetic Association Database: CYP46A1 Human Genome Epidemiology Navigator: CYP46A1 (28 documents)
Medical News for CYP46A1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for CYP46A1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/58 PubMed articles for CYP46A1 gene (see all 58
): cDNA cloning of cholesterol 24-hydroxylase, a mediator of cholesterol homeostasis in the brain. (PubMed id 10377398) 1, 2, 3, 4 Lund E.G.... Russell D.W. (1999) CYP46: a risk factor for Alzheimer's disease or a coincidence? (PubMed id 15936520) 1, 3, 6 Golanska E....Liberski P.P. (2005) Variants of CYP46A1 may interact with age and APOE to influence CSF Abeta42 levels in Alzheimer's disease. (PubMed id 15034781) 1, 3, 6 Johansson A....Prince J.A. (2004) Lack of association of the cholesterol 24-hydroxylase (CYP46) intron 2 polymorphism with Alzheimer's disease. (PubMed id 15331159) 1, 3, 6 Ingelsson M....Rebeck G.W. (2004) Increased brain beta-amyloid load, phosphorylated tau, and risk of Alzheimer disease associated with an intronic CYP46 polymorphism. (PubMed id 12533085) 1, 3, 6 Papassotiropoulos A....Hock C. (2003) The effects of gender and CYP46 and apo E polymorphism on 24S-hydroxycholesterol levels in Alzheimer's patients treated with statins. (PubMed id 15975088) 1, 3, 6 Vega G.L....Moore C. (2004) Intronic CYP46 polymorphism along with ApoE genotype in sporadic Alzheimer Disease: from risk factors to disease modulators. (PubMed id 15165699) 1, 3, 6 Borroni B....Padovani A. (2004) Lack of association between the CYP46 gene polymorphism and Italian late-onset sporadic Alzheimer's disease. (PubMed id 16055229) 1, 3, 6 Tedde A....Sorbi S. (2006) Exclusion of CYP46 and APOM as candidate genes for Alzheimer's disease in a French population. (PubMed id 15172102) 1, 3, 6 Kabbara A....Lambert J.C. (2004) Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease. (PubMed id 16157450) 1, 3, 6 Shibata N.... Rogaeva E. (2006)
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Genome Databases showing CYP46A1
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing CYP46A1
(According to HUGE )
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Specialized Databases showing CYP46A1 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for CYP46A1 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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