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CYP46A1 cytochrome P450 family 46 subfamily A member 1 [ Homo sapiens (human) ]

Gene ID: 10858, updated on 8-May-2016
Official Symbol
CYP46A1provided by HGNC
Official Full Name
cytochrome P450 family 46 subfamily A member 1provided by HGNC
Primary source
HGNC:HGNC:2641
See related
Ensembl:ENSG00000036530 HPRD:04970; MIM:604087; Vega:OTTHUMG00000171510
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CP46; CYP46
Summary
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]
Orthologs
Location:
14q32.1
Exon count:
17
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 14 NC_000014.9 (99684262..99727321)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (100150755..100193638)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370661 Neighboring gene coiled-coil domain containing 85C Neighboring gene HHIP like 1 Neighboring gene echinoderm microtubule associated protein like 1 Neighboring gene uncharacterized LOC102724682 Neighboring gene voltage dependent anion channel 3 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Replication interactions

Interaction Pubs
Knockdown of cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

  • Bile acid and bile salt metabolism, organism-specific biosystem (from REACTOME)
    Bile acid and bile salt metabolism, organism-specific biosystemIn a healthy adult human, about 500 mg of cholesterol is converted to bile salts daily. Newly synthesized bile salts are secreted into the bile and released into the small intestine where they emulsi...
  • Biological oxidations, organism-specific biosystem (from REACTOME)
    Biological oxidations, organism-specific biosystemAll organisms are constantly exposed to foreign chemicals every day. These can be man-made (drugs, industrial chemicals) or natural (alkaloids, toxins from plants and animals). Uptake is usually via ...
  • Cytochrome P450 - arranged by substrate type, organism-specific biosystem (from REACTOME)
    Cytochrome P450 - arranged by substrate type, organism-specific biosystemThe P450 isozyme system is the major phase 1 biotransforming system in man, accounting for more than 90% of drug biotransformations. This system has huge catalytic versatility and a broad substrate s...
  • Endogenous sterols, organism-specific biosystem (from REACTOME)
    Endogenous sterols, organism-specific biosystemA number of CYPs take part in cholesterol biosynthesis and elimination, thus playing an important role in maintaining cholesterol homeostasis. Under normal physiological conditions, cholesterol intak...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Phase 1 - Functionalization of compounds, organism-specific biosystem (from REACTOME)
    Phase 1 - Functionalization of compounds, organism-specific biosystemPhase 1 of metabolism is concerned with functionalization, that is the introduction or exposure of functional groups on the chemical structure of a compound. This provides a 'handle' for phase 2 conj...
  • Primary bile acid biosynthesis, organism-specific biosystem (from KEGG)
    Primary bile acid biosynthesis, organism-specific biosystemBile acids are steroid carboxylic acids derived from cholesterol in vertebrates. The primary bile acids, cholic acid and chenodeoxycholic acid, are synthesized in the liver and conjugated with taurin...
  • Primary bile acid biosynthesis, conserved biosystem (from KEGG)
    Primary bile acid biosynthesis, conserved biosystemBile acids are steroid carboxylic acids derived from cholesterol in vertebrates. The primary bile acids, cholic acid and chenodeoxycholic acid, are synthesized in the liver and conjugated with taurin...
  • Synthesis of bile acids and bile salts, organism-specific biosystem (from REACTOME)
    Synthesis of bile acids and bile salts, organism-specific biosystemIn a healthy adult human, about 500 mg of cholesterol is converted to bile salts daily (Russell 2003). The major pathway for bile salt synthesis in the liver begins with the conversion of cholesterol...
  • Synthesis of bile acids and bile salts via 24-hydroxycholesterol, organism-specific biosystem (from REACTOME)
    Synthesis of bile acids and bile salts via 24-hydroxycholesterol, organism-specific biosystemIn the body, 24-hydroxycholesterol is synthesized in the brain, exported to the liver, and converted there to bile acids and bile salts. This pathway is only a minor source of bile acids and bile sal...
  • cytochrome P450, organism-specific biosystem (from WikiPathways)
    cytochrome P450, organism-specific biosystemOxidation of a substrate by Cytochrome P450. Adapted from Niesink et al., Chapter 3, p. 47-48.
  • metapathway biotransformation, organism-specific biosystem (from WikiPathways)
    metapathway biotransformation, organism-specific biosystem
    metapathway biotransformation
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cholesterol 24-hydroxylase activity IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol 24-hydroxylase activity TAS
Traceable Author Statement
more info
 
heme binding IDA
Inferred from Direct Assay
more info
PubMed 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
steroid hydroxylase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
bile acid biosynthetic process TAS
Traceable Author Statement
more info
 
cholesterol catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
sterol metabolic process TAS
Traceable Author Statement
more info
 
xenobiotic metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum TAS
Traceable Author Statement
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
cholesterol 24-hydroxylase
Names
CH24H
cytochrome P450 46A1
cytochrome P450, family 46, subfamily A, polypeptide 1
cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)
NP_006659.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007963.1 RefSeqGene

    Range
    5001..47884
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006668.1NP_006659.1  cholesterol 24-hydroxylase precursor

    See identical proteins and their annotated locations for NP_006659.1

    Status: REVIEWED

    Source sequence(s)
    AF094480
    Consensus CDS
    CCDS9954.1
    UniProtKB/Swiss-Prot
    Q9Y6A2
    Related
    ENSP00000261835, OTTHUMP00000246265, ENST00000261835, OTTHUMT00000413814
    Conserved Domains (1) summary
    pfam00067
    Location:34466
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p2 Primary Assembly

    Range
    99684262..99727321
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536364.1XP_011534666.1  

    Conserved Domains (1) summary
    pfam00067
    Location:34456
    p450; Cytochrome P450
  2. XM_005267274.3XP_005267331.1  

    Conserved Domains (1) summary
    cl12078
    Location:7321
    p450; Cytochrome P450
  3. XM_011536365.1XP_011534667.1  

    Conserved Domains (1) summary
    cl12078
    Location:2313
    p450; Cytochrome P450

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 Alternate CHM1_1.1

    Range
    100088519..100131398
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)