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

    Gene ID: 10858, updated on 27-Nov-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
    NEW
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    Try the new Transcript table

    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
    • 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)

    NEW Try the new Transcript table

    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