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Aliases for CYP46A1 Gene

Aliases for CYP46A1 Gene

  • Cytochrome P450, Family 46, Subfamily A, Polypeptide 1 2 3
  • CYP46 3 4 6
  • Cytochrome P450, Subfamily 46 (Cholesterol 24-Hydroxylase) 2 3
  • Cytochrome P450 46A1 3 4
  • CH24H 3 4
  • Cholesterol 24-Hydroxylase 3
  • EC 1.14.13.98 4
  • CP46 3

External Ids for CYP46A1 Gene

Previous Symbols for CYP46A1 Gene

  • CYP46

Summaries for CYP46A1 Gene

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 alzheimer disease. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP11A1.

UniProtKB/Swiss-Prot for CYP46A1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP46A1 Gene

Genomics for CYP46A1 Gene

Genomic Location for CYP46A1 Gene

Start:
99,684,304 bp from pter
End:
99,727,301 bp from pter
Size:
42,998 bases
Orientation:
Plus strand

Genomic View for CYP46A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CYP46A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP46A1 Gene

Regulatory Elements for CYP46A1 Gene

Proteins for CYP46A1 Gene

  • Protein details for CYP46A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6A2-CP46A_HUMAN
    Recommended name:
    Cholesterol 24-hydroxylase
    Protein Accession:
    Q9Y6A2
    Secondary Accessions:
    • B4DHP8
    • E7EQG9
    • Q8N2B0

    Protein attributes for CYP46A1 Gene

    Size:
    500 amino acids
    Molecular mass:
    56821 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CYP46A1 Gene

    Alternative splice isoforms for CYP46A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYP46A1 Gene

Proteomics data for CYP46A1 Gene at MOPED

Post-translational modifications for CYP46A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP46A1 Gene

No data available for DME Specific Peptides for CYP46A1 Gene

Domains for CYP46A1 Gene

Gene Families for CYP46A1 Gene

HGNC:
  • CYP :Cytochrome P450s
IUPHAR :

Protein Domains for CYP46A1 Gene

Suggested Antigen Peptide Sequences for CYP46A1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y6A2

UniProtKB/Swiss-Prot:

CP46A_HUMAN
Family:
  • Belongs to the cytochrome P450 family.:
    • Q9Y6A2
genes like me logo Genes that share domains with CYP46A1: view

Function for CYP46A1 Gene

Molecular function for CYP46A1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=2.2 uM for 24(S)-hydroxycholesterol {ECO:0000269 PubMed:14640697};
UniProtKB/Swiss-Prot CatalyticActivity: Cholesterol + NADPH + O(2) = (24S)-24-hydroxycholesterol + NADP(+) + H(2)O.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for CYP46A1 Gene

Gene Ontology (GO) - Molecular Function for CYP46A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IEA --
GO:0008395 steroid hydroxylase activity TAS 10377398
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen --
GO:0020037 heme binding IDA 18621681
GO:0033781 cholesterol 24-hydroxylase activity IDA 18621681
genes like me logo Genes that share ontologies with CYP46A1: view

Phenotypes for CYP46A1 Gene

MGI mutant phenotypes for CYP46A1:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with CYP46A1: view

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for CYP46A1 Gene

Localization for CYP46A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP46A1 Gene

Endoplasmic reticulum membrane; Single-pass membrane protein. Microsome membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CYP46A1 Gene COMPARTMENTS Subcellular localization image for CYP46A1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 2
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CYP46A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum TAS 10377398
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CYP46A1: view

Pathways for CYP46A1 Gene

genes like me logo Genes that share pathways with CYP46A1: view

Interacting Proteins for CYP46A1 Gene

Gene Ontology (GO) - Biological Process for CYP46A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006699 bile acid biosynthetic process TAS --
GO:0006707 cholesterol catabolic process IDA 18621681
GO:0006805 xenobiotic metabolic process TAS --
GO:0007399 nervous system development TAS 10377398
GO:0008206 bile acid metabolic process TAS --
genes like me logo Genes that share ontologies with CYP46A1: view

Compounds for CYP46A1 Gene

(7) HMDB Compounds for CYP46A1 Gene

Compound Synonyms Cas Number PubMed IDs
24-Hydroxycholesterol
  • (24S)-24-Hydroxycholesterol
474-73-7
Cholesterol
  • (+)-ent-Cholesterol
57-88-5
Heme
  • (protoporphyrinato)iron
14875-96-8
NADP
  • Adenine-nicotinamide dinucleotide phosphate
53-59-8
NADPH
  • 2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
53-57-6

(3) Novoseek inferred chemical compound relationships for CYP46A1 Gene

Compound -log(P) Hits PubMed IDs
24s-hydroxy-cholesterol 98 33
lathosterol 71.8 2
cholesterol 71.2 85
genes like me logo Genes that share compounds with CYP46A1: view

Transcripts for CYP46A1 Gene

Unigene Clusters for CYP46A1 Gene

Cytochrome P450, family 46, subfamily A, polypeptide 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CYP46A1 Gene

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

Relevant External Links for CYP46A1 Gene

GeneLoc Exon Structure for
CYP46A1
ECgene alternative splicing isoforms for
CYP46A1

Expression for CYP46A1 Gene

mRNA expression in normal human tissues for CYP46A1 Gene

mRNA differential expression in normal tissues according to GTEx for CYP46A1 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (9.1), Brain - Nucleus accumbens (basal ganglia) (8.0), Brain - Caudate (basal ganglia) (7.8), and Brain - Cortex (4.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CYP46A1 Gene

SOURCE GeneReport for Unigene cluster for CYP46A1 Gene Hs.25121

mRNA Expression by UniProt/SwissProt for CYP46A1 Gene

Q9Y6A2-CP46A_HUMAN
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
genes like me logo Genes that share expressions with CYP46A1: view

Orthologs for CYP46A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CYP46A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CYP46A1 35
  • 99.59 (n)
  • 100 (a)
CYP46A1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CYP46A1 35
  • 90.33 (n)
  • 93 (a)
CYP46A1 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYP46A1 35
  • 90.12 (n)
  • 94.03 (a)
CYP46A1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cyp46a1 35
  • 89.6 (n)
  • 94.8 (a)
Cyp46a1 16
Cyp46a1 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYP46A1 36
  • 56 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyp46a1 35
  • 88.83 (n)
  • 94.54 (a)
chicken
(Gallus gallus)
Aves CYP46A1 35
  • 66.52 (n)
  • 60.21 (a)
CYP46A1 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 51 (a)
OneToMany
-- 36
  • 53 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia MGC64404 35
tropical clawed frog
(Silurana tropicalis)
Amphibia mgc108213 35
  • 59.04 (n)
  • 55.72 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.48 35
zebrafish
(Danio rerio)
Actinopterygii cyp46a1 36
  • 47 (a)
OneToMany
CYP46A1 (4 of 5) 36
  • 44 (a)
OneToMany
CYP46A1 (5 of 5) 36
  • 39 (a)
OneToMany
cyp46a2 36
  • 47 (a)
OneToMany
cyp46a4 36
  • 48 (a)
OneToMany
zgc63602 35
fruit fly
(Drosophila melanogaster)
Insecta Cyp310a1 36
  • 18 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons CYP97A3 35
  • 40.64 (n)
  • 29.64 (a)
rice
(Oryza sativa)
Liliopsida Os02g0817900 35
  • 44.22 (n)
  • 30.61 (a)
Species with no ortholog for CYP46A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CYP46A1 Gene

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

Paralogs for CYP46A1 Gene

Paralogs for CYP46A1 Gene

Selected SIMAP similar genes for CYP46A1 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for CYP46A1 Gene

genes like me logo Genes that share paralogs with CYP46A1: view

Variants for CYP46A1 Gene

Sequence variations from dbSNP and Humsavar for CYP46A1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs15506 -- 99,727,222(-) TCACA(C/T)GCAGA utr-variant-3-prime
rs754203 -- 99,691,630(-) AGCCC(C/T)GGGGG intron-variant
rs911913 -- 99,716,464(+) GGCAT(C/T)CCCTC intron-variant
rs943880 -- 99,700,152(-) GCAGC(C/G)CCTAC intron-variant
rs943881 -- 99,699,963(-) gagcg(A/G)ctgct intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CYP46A1 Gene

Variant ID Type Subtype PubMed ID
dgv1978n71 CNV Loss 21882294
nsv902223 CNV Loss 21882294
nsv470667 CNV Loss 18288195
nsv1423 CNV Loss 18451855

Relevant External Links for CYP46A1 Gene

HapMap Linkage Disequilibrium report
CYP46A1
Human Gene Mutation Database (HGMD)
CYP46A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP46A1 Gene

Disorders for CYP46A1 Gene

(1) MalaCards Diseases for CYP46A1 Gene

Search for CYP46A1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for CYP46A1 Gene

(3) Novoseek inferred disease relationships for CYP46A1 Gene

Disease -log(P) Hits PubMed IDs
alzheimers disease 71.6 34
neurodegeneration 40.8 1
senile plaques 38.1 3

Relevant External Links for CYP46A1

Genetic Association Database (GAD)
CYP46A1
Human Genome Epidemiology (HuGE) Navigator
CYP46A1
genes like me logo Genes that share disorders with CYP46A1: view

No data available for UniProtKB/Swiss-Prot for CYP46A1 Gene

Publications for CYP46A1 Gene

  1. cDNA cloning of cholesterol 24-hydroxylase, a mediator of cholesterol homeostasis in the brain. (PMID: 10377398) Lund E.G. … Russell D.W. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 23
  2. Polymorphisms of the cholesterol 24-hydroxylase (CYP46A1) gene and the risk of Alzheimer's disease in a Chinese population. (PMID: 16734927) Ma S.L. … Chiu H.F. (Int Psychogeriatr 2006) 3 23 48
  3. [Correlation of cholesterol 24-hydroxylase and ATP-binding cassette transporter A1 polymorphisms with Alzheimer's disease]. (PMID: 17550732) Wang F. … Jia J.P. (Zhonghua Yi Xue Za Zhi 2007) 3 23 48
  4. Meta-analysis of genetic variability in the beta-amyloid production, aggregation and degradation metabolic pathways and the risk of Alzheimer's disease. (PMID: 17854420) Llorca J. … Combarros O. (Acta Neurol. Scand. 2008) 3 23 48
  5. CYP46: a risk factor for Alzheimer's disease or a coincidence? (PMID: 15936520) Golanska E. … Liberski P.P. (Neurosci. Lett. 2005) 3 23 48

Products for CYP46A1 Gene

Sources for CYP46A1 Gene

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