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CYP46A1 Gene(Protein Coding)

Cytochrome P450 Family 46 Subfamily A Member 1

GCID:
GC14P099684
GIFtS:
63
Genes Participants
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Aliases for CYP46A1 Gene

Aliases for CYP46A1 Gene

  • Cytochrome P450 Family 46 Subfamily A Member 1 2 3 5
  • Cytochrome P450, Subfamily 46 (Cholesterol 24-Hydroxylase) 2 3
  • Cytochrome P450, Family 46, Subfamily A, Polypeptide 1 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 Member 1) is a Protein Coding gene. Diseases associated with CYP46A1 include Anus Disease and Multidrug-Resistant Tuberculosis. Among its related pathways are Phase II conjugation and Metabolism. 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 CYP4F8.

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

Products:

  1. Regulatory Element

Regulatory Elements for CYP46A1 Gene

Enhancers for CYP46A1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CYP46A1 on UCSC Golden Path with GeneCards custom track

Promoters for CYP46A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CYP46A1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the CYP46A1 gene promoter:

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

Genes around CYP46A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP46A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP46A1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CYP46A1 Gene

Proteins for CYP46A1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for CYP46A1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CYP46A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP46A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for CYP46A1 Gene

Domains & Families for CYP46A1 Gene

Gene Families for CYP46A1 Gene

HGNC:
IUPHAR :

Protein Domains for CYP46A1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CYP46A1 Gene

GenScript: Design optimal peptide antigens:

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

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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

Phenotypes for CYP46A1 Gene

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

Animal Models for CYP46A1 Gene

MGI Knock Outs for CYP46A1:

Animal Model Products

CRISPR Products

miRNA for CYP46A1 Gene

miRTarBase miRNAs that target CYP46A1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , 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
golgi apparatus 2
plasma membrane 2
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for CYP46A1 Gene

Pathways & Interactions for CYP46A1 Gene

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

Pathways by source for CYP46A1 Gene

2 BioSystems pathways for CYP46A1 Gene
1 KEGG pathway for CYP46A1 Gene

Interacting Proteins for CYP46A1 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000261835%0d%0a9606.ENSP00000301645%0d%0a9606.ENSP00000275016%0d%0a9606.ENSP00000258415%0d%0a9606.ENSP00000356591%0d%0a9606.ENSP00000301466%0d%0a
Selected Interacting proteins: ENSP00000261835 for CYP46A1 Gene via STRING

Gene Ontology (GO) - Biological Process for CYP46A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006805 xenobiotic metabolic process IDA,TAS 20667828
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

Products:

  1. Drug

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

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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for CYP46A1 Gene

(4) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(31) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CYP46A1 Gene

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

CRISPR Products

Inhibitory RNA Products

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

Products:

  1. Primer

mRNA expression in normal human tissues for CYP46A1 Gene

mRNA expression in normal human tissues for CYP46A1 Gene
mRNA expression by BioGPS for CYP46A1 GenemRNA expression by GTEx 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

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
rs15506 -- 99,727,222(-) TCACA(C/T)GCAGA utr-variant-3-prime
rs7141795 -- 99,720,042(+) caggc(A/G)tgagc intron-variant
rs7142908 -- 99,719,918(+) cacca(C/T)gcctg intron-variant
rs7143023 -- 99,720,491(+) gtctc(A/G)ctctg intron-variant
rs7143049 -- 99,719,929(+) gctaa(A/T)ttttt 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

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

(3) MalaCards diseases for CYP46A1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
anus disease
  • anal disease
multidrug-resistant tuberculosis
  • tuberculosis multidrug-resistant
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards

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 3 4 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) 3 23
  3. Combined use of mass spectrometry and heterologous expression for identification of membrane-interacting peptides in cytochrome P450 46A1 and NADPH-cytochrome P450 oxidoreductase. (PMID: 19161969) Mast N. … Turko I.V. (Arch. Biochem. Biophys. 2009) 3 23
  4. Cholesterol 24-hydroxylase (CYP46A1) polymorphisms are associated with faster cognitive deterioration in Chinese older persons: a two-year follow up study. (PMID: 19212968) Fu B.Y. … Lam L.C. (Int J Geriatr Psychiatry 2009) 3 23
  5. CYP46A1 variants influence Alzheimer's disease risk and brain cholesterol metabolism. (PMID: 19286353) KAPlsch H. … Heun R. (Eur. Psychiatry 2009) 3 23

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