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

Gene ID: 10858, updated on 3-Oct-2020

Summary

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 MIM:604087
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]
Expression
Biased expression in brain (RPKM 14.7), heart (RPKM 1.0) and 2 other tissues See more
Orthologs

Genomic context

See CYP46A1 in Genome Data Viewer
Location:
14q32.2
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 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 coiled-coil domain containing 85C Neighboring gene VISTA enhancer hs1931 Neighboring gene Sharpr-MPRA regulatory region 4550 Neighboring gene HHIP like 1 Neighboring gene EMAP like 1 Neighboring gene uncharacterized LOC102724682 Neighboring gene RNA, U1 small nuclear 47, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cholesterol 24-hydroxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol 24-hydroxylase activity IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol 24-hydroxylase activity TAS
Traceable Author Statement
more info
 
heme binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heme binding IDA
Inferred from Direct Assay
more info
PubMed 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
steroid hydroxylase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
bile acid biosynthetic process TAS
Traceable Author Statement
more info
 
cholesterol catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol catabolic process IEA
Inferred from Electronic Annotation
more info
 
cholesterol catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
progesterone metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
protein localization to membrane raft ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of long-term synaptic potentiation ISS
Inferred from Sequence or Structural Similarity
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
dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
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
 
postsynapse ISS
Inferred from Sequence or Structural Similarity
more info
 
presynapse ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
cholesterol 24-hydroxylase
Names
CH24H
cholesterol 24-monooxygenase
cholesterol 24S-hydroxylase
cytochrome P450 46A1
cytochrome P450, family 46, subfamily A, polypeptide 1
cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)
NP_006659.1
XP_005267331.1
XP_011534666.1
XP_011534667.1
XP_016876422.1

NCBI Reference Sequences (RefSeq)

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
    4881..47884
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006668.2NP_006659.1  cholesterol 24-hydroxylase precursor

    See identical proteins and their annotated locations for NP_006659.1

    Status: REVIEWED

    Source sequence(s)
    AF094480, AL160313
    Consensus CDS
    CCDS9954.1
    UniProtKB/Swiss-Prot
    Q9Y6A2
    Related
    ENSP00000261835.3, ENST00000261835.8
    Conserved Domains (1) summary
    pfam00067
    Location:34466
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011536364.1XP_011534666.1  cholesterol 24-hydroxylase isoform X1

    Conserved Domains (1) summary
    pfam00067
    Location:34456
    p450; Cytochrome P450
  2. XM_017020933.2XP_016876422.1  cholesterol 24-hydroxylase isoform X2

  3. XM_005267274.5XP_005267331.1  cholesterol 24-hydroxylase isoform X3

    Conserved Domains (1) summary
    cl12078
    Location:7321
    p450; Cytochrome P450
  4. XM_011536365.2XP_011534667.1  cholesterol 24-hydroxylase isoform X4

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