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

Gene ID: 10858, updated on 17-Sep-2024

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; AllianceGenome:HGNC:2641
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
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Genomic context

See CYP46A1 in Genome Data Viewer
Location:
14q32.2
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (99684298..99727301)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (93915741..93958738)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (100150635..100193638)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 85C Neighboring gene uncharacterized LOC105370661 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100004281-100004872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100003689-100004280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100006217-100006952 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100011369-100012103 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100017717-100018455 Neighboring gene HNF4 motif-containing MPRA enhancer 184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100029329-100030250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100030251-100031170 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100033011-100033930 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100035771-100036690 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100036691-100037611 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100037612-100038531 Neighboring gene VISTA enhancer hs1931 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:100045528-100046727 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100054779-100055374 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100057164-100057760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100064325-100065207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100068739-100069392 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9004 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6065 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6066 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6067 Neighboring gene Sharpr-MPRA regulatory region 4550 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100090366-100091068 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9005 Neighboring gene HHIP like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100118444-100118944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100118945-100119445 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100128755-100129256 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100129257-100129756 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100130377-100130920 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100130921-100131465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9008 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100135414-100135955 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:100136897-100137496 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100137497-100138098 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100138099-100138698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100141430-100141993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100142557-100143120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100143121-100143683 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100174717-100175236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6069 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100197899-100198758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100203867-100204677 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100205489-100206299 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100215862-100216394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100218508-100219128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100217886-100218507 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100221613-100222233 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100222234-100222853 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100234232-100235190 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100235191-100236147 Neighboring gene Sharpr-MPRA regulatory region 11273 Neighboring gene EMAP like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9010 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:100259671-100260502 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100304941-100305568 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100342767-100343319 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:100349991-100350528 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100354721-100355374 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100355375-100356028 Neighboring gene Sharpr-MPRA regulatory region 1474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9011 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:100405395-100406594 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 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cholesterol 24-hydroxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables cholesterol 24-hydroxylase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables cholesterol 24-hydroxylase activity TAS
Traceable Author Statement
more info
 
enables heme binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables heme binding IDA
Inferred from Direct Assay
more info
PubMed 
enables iron ion binding IEA
Inferred from Electronic Annotation
more info
 
enables steroid hydroxylase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables testosterone 16-beta-hydroxylase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in bile acid biosynthetic process TAS
Traceable Author Statement
more info
 
involved_in cholesterol catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cholesterol catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cholesterol catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in cholesterol catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in nervous system development TAS
Traceable Author Statement
more info
PubMed 
involved_in progesterone metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_negative_effect protein localization to membrane raft ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of long-term synaptic potentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in sterol metabolic process TAS
Traceable Author Statement
more info
 
involved_in xenobiotic metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in endoplasmic reticulum TAS
Traceable Author Statement
more info
PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
located_in postsynapse ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in 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
XP_054231252.1
XP_054231253.1
XP_054231254.1
XP_054231255.1

NCBI Reference Sequences (RefSeq)

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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

    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
    B4DHP8, E7EQG9, Q8N2B0, Q9Y6A2
    Related
    ENSP00000261835.3, ENST00000261835.8
    Conserved Domains (1) summary
    pfam00067
    Location:34466
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    99684298..99727301
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020933.3XP_016876422.1  cholesterol 24-hydroxylase isoform X2

  2. XM_011536364.2XP_011534666.1  cholesterol 24-hydroxylase isoform X1

    Conserved Domains (1) summary
    pfam00067
    Location:34456
    p450; Cytochrome P450
  3. XM_005267274.6XP_005267331.1  cholesterol 24-hydroxylase isoform X3

    Conserved Domains (1) summary
    cl12078
    Location:7321
    p450; Cytochrome P450
  4. XM_011536365.3XP_011534667.1  cholesterol 24-hydroxylase isoform X4

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    93915741..93958738
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054375278.1XP_054231253.1  cholesterol 24-hydroxylase isoform X2

  2. XM_054375277.1XP_054231252.1  cholesterol 24-hydroxylase isoform X1

  3. XM_054375279.1XP_054231254.1  cholesterol 24-hydroxylase isoform X3

  4. XM_054375280.1XP_054231255.1  cholesterol 24-hydroxylase isoform X4