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Aliases for CYP46A1 Gene

Aliases for CYP46A1 Gene

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

External Ids for CYP46A1 Gene

Previous HGNC Symbols for CYP46A1 Gene

  • CYP46

Previous GeneCards Identifiers for CYP46A1 Gene

  • GC14P093966
  • GC14P098140
  • GC14P099220
  • GC14P100150
  • GC14P080333

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 anus disease and alzheimer disease. Among its related pathways are Metabolism and Synthesis of bile acids and bile salts. GO annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. 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

Regulatory Elements for CYP46A1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CYP46A1 Gene

Chromosome:
14
Start:
99,684,262 bp from pter
End:
99,727,321 bp from pter
Size:
43,060 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

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

Antibody Products

No data available for DME Specific Peptides for CYP46A1 Gene

Domains & Families for CYP46A1 Gene

Gene Families for CYP46A1 Gene

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

Animal Model Products

CRISPR Products

miRNA for CYP46A1 Gene

miRTarBase miRNAs that target CYP46A1

No data available for Animal Models , Transcription Factor Targets 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
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 & Interactions for CYP46A1 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Lipoprotein Signaling & Cholesterol Metabolism in human,mouse,rat

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

No data available for SIGNOR curated interactions for CYP46A1 Gene

Drugs & Compounds for CYP46A1 Gene

(3) Drugs for CYP46A1 Gene - From: DGIdb, NovoSeek, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cholesterol Experimental Pharma Agonist 0
RC-8800 Pharma 0
heme Pharma Agonist 0

(7) Additional Compounds for CYP46A1 Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
24-Hydroxycholesterol
  • (24S)-24-Hydroxycholesterol
  • (24S)-cholest-5-ene-3b,24-diol
  • (24S)-cholest-5-ene-3beta,24-diol
  • 24(S)-Hydroxycholesterol
  • 24-Hydroxycholesterol
474-73-7
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CYP46A1

Flow Cytometry Products

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) (x9.1), Brain - Nucleus accumbens (basal ganglia) (x8.0), Brain - Caudate (basal ganglia) (x7.8), and Brain - Cortex (x4.8).

Protein differential expression in normal tissues from HIPED for CYP46A1 Gene

This gene is overexpressed in Heart (45.3), Frontal cortex (11.8), and Fetal Brain (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CYP46A1: view

Protein tissue co-expression partners for CYP46A1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for CYP46A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CYP46A1 Gene

Organism Taxonomy Gene Similarity Type Details
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
chimpanzee
(Pan troglodytes)
Mammalia CYP46A1 35
  • 99.59 (n)
  • 100 (a)
CYP46A1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyp46a1 35
  • 88.83 (n)
  • 94.54 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia CYP46A1 36
  • 56 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia mgc108213 35
  • 59.04 (n)
  • 55.72 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC64404 35
zebrafish
(Danio rerio)
Actinopterygii zgc63602 35
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
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.48 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

(3) 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

Variation tolerance for CYP46A1 Gene

Residual Variation Intolerance Score: 12.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.12; 22.65% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(2) MalaCards diseases for CYP46A1 Gene - From: DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
anus disease
  • nontraumatic tear of anus
alzheimer disease
  • alzheimer disease, late-onset
- elite association

Relevant External Links for CYP46A1

Genetic Association Database (GAD)
CYP46A1
Human Genome Epidemiology (HuGE) Navigator
CYP46A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYP46A1
genes like me logo Genes that share disorders with CYP46A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 23 67
  2. Increased expression of cholesterol 24S-hydroxylase results in disruption of glial glutamate transporter EAAT2 association with lipid rafts: a potential role in Alzheimer's disease. (PMID: 20193040) Tian G. … Lin C.L. (J. Neurochem. 2010) 23 67
  3. Marked variability in hepatic expression of cytochromes CYP7A1 and CYP27A1 as compared to cerebral CYP46A1. Lessons from a dietary study with omega 3 fatty acids in hamsters. (PMID: 20298807) Mast N. … Pikuleva I. (Biochim. Biophys. Acta 2010) 23 67
  4. 24S-hydroxycholesterol effects on lipid metabolism genes are modeled in traumatic brain injury. (PMID: 20053345) Cartagena C.M. … Rebeck G.W. (Brain Res. 2010) 23 67
  5. Distribution of cholesterol 24-hydroxylase in the monkey brain. (PMID: 20502497) He X. … Hua Q. (Neurosci Bull 2010) 23 67

Products for CYP46A1 Gene

Sources for CYP46A1 Gene

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