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    Cyp46a1 cytochrome P450, family 46, subfamily a, polypeptide 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 362782, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Cyp46a1provided by RGD
    Official Full Name
    cytochrome P450, family 46, subfamily a, polypeptide 1provided by RGD
    Primary source
    RGD:1306605
    See related
    EnsemblRapid:ENSRNOG00000007147 AllianceGenome:RGD:1306605
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable cholesterol 24-hydroxylase activity; heme binding activity; and steroid hydroxylase activity. Predicted to be involved in several processes, including cholesterol catabolic process; progesterone metabolic process; and regulation of long-term synaptic potentiation. Predicted to act upstream of with a negative effect on protein localization to membrane raft. Predicted to be located in several cellular components, including dendrite; endoplasmic reticulum membrane; and postsynapse. Human ortholog(s) of this gene implicated in Alzheimer's disease. Orthologous to human CYP46A1 (cytochrome P450 family 46 subfamily A member 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Brain (RPKM 177.0) and Adrenal (RPKM 13.0) See more
    Orthologs
    human mouse all
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    Genomic context

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    See Cyp46a1 in Genome Data Viewer
    Location:
    6q32
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 6 NC_086024.1 (133011948..133039167)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 6 NC_051341.1 (127247543..127274765)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 6 NC_005105.4 (132242328..132273788)

    Chromosome 6 - NC_086024.1Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 85C Neighboring gene uncharacterized LOC120103618 Neighboring gene HHIP-like 1 Neighboring gene uncharacterized LOC120103619 Neighboring gene uncharacterized LOC120103620 Neighboring gene EMAP like 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Brain injury induces cholesterol 24-hydroxylase (Cyp46) expression in glial cells in a time-dependent manner. Smiljanic K, et al. Histochem Cell Biol, 2010 Aug. PMID 20559650
    2. Cortical injury increases cholesterol 24S hydroxylase (Cyp46) levels in the rat brain. Cartagena CM, et al. J Neurotrauma, 2008 Sep. PMID 18729719, Free PMC Article
    3. Oxidation of 7-dehydrocholesterol and desmosterol by human cytochrome P450 46A1. Goyal S, et al. J Lipid Res, 2014 Sep. PMID 25017465, Free PMC Article
    4. Structural basis of drug binding to CYP46A1, an enzyme that controls cholesterol turnover in the brain. Mast N, et al. J Biol Chem, 2010 Oct 8. PMID 20667828, Free PMC Article
    5. Crystal structures of substrate-bound and substrate-free cytochrome P450 46A1, the principal cholesterol hydroxylase in the brain. Mast N, et al. Proc Natl Acad Sci U S A, 2008 Jul 15. PMID 18621681, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. in pathological conditions, like brain injury, Cyp46 displayed atypical expression, being expressed not only in neuronal cells, but also in microglia and astrocytes
      Title: Brain injury induces cholesterol 24-hydroxylase (Cyp46) expression in glial cells in a time-dependent manner.
    2. increased microglial Cyp46 activity is part of a system for removal of damaged cell membranes post-injury
      Title: Cortical injury increases cholesterol 24S hydroxylase (Cyp46) levels in the rat brain.
    3. Neural retina specifically expresses cholesterol-24S-hydroxylase, a metabolizing enzyme responsible for the removal of cholesterol in neurons. May be valuable gene candidate for retinal pathologies.
      Title: Cholesterol-24S-hydroxylase (CYP46A1) is specifically expressed in neurons of the neural retina.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables cholesterol 24-hydroxylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cholesterol 24-hydroxylase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables heme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables heme binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables steroid hydroxylase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in cholesterol catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cholesterol catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in progesterone metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_negative_effect protein localization to membrane raft ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of long-term synaptic potentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in xenobiotic metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in dendrite ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in postsynapse ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in presynapse ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    cholesterol 24-hydroxylase
    NP_001386630.1
    XP_063118204.1

    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.

    mRNA and Protein(s)

    1. NM_001399701.1 → NP_001386630.1  cholesterol 24-hydroxylase

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000006
      UniProtKB/TrEMBL
      A0A8J8Y4X4, B1WC64, F7EN52
      Related
      ENSRNOP00000009896.8, ENSRNOT00000009896.8

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086024.1 Reference GRCr8

      Range
      133011948..133039167
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063262134.1 → XP_063118204.1  cholesterol 24-hydroxylase isoform X1

      Related
      ENSRNOP00000107670.1, ENSRNOT00000129298.1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001108723.1: Suppressed sequence

      Description
      NM_001108723.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein Strain
    Heading Accession and Version

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