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Cyp46a1 Gene Detail
Summary
  • Symbol
    Cyp46a1
  • Name
    cytochrome P450, family 46, subfamily a, polypeptide 1
  • Synonyms
    cholestrol 24-hydroxylase, Cyp46
  • Feature Type
    protein coding gene
  • IDs
    MGI:1341877
    NCBI Gene: 13116
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:108300640-108328493 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 59.41 cM, cytoband F2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    915 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1341877
 protein coding gene Chr12:108300568-108328497 (+)
129S1/SvImJ MGP_129S1SvImJ_G0020104
 protein coding gene Chr12:110445861-110474302 (+)
A/J MGP_AJ_G0020058
 protein coding gene Chr12:106264663-106293839 (+)
AKR/J MGP_AKRJ_G0020034
 protein coding gene Chr12:109354583-109380988 (+)
BALB/cJ MGP_BALBcJ_G0020044
 protein coding gene Chr12:106676225-106704880 (+)
C3H/HeJ MGP_C3HHeJ_G0019846
 protein coding gene Chr12:109786868-109822474 (+)
C57BL/6NJ MGP_C57BL6NJ_G0020489
 protein coding gene Chr12:113836410-113872834 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018101
 protein coding gene Chr12:102802734-102830181 (+)
CAST/EiJ MGP_CASTEiJ_G0019388
 protein coding gene Chr12:104719690-104750547 (+)
CBA/J MGP_CBAJ_G0019813
 protein coding gene Chr12:118371036-118412415 (+)
DBA/2J MGP_DBA2J_G0019930
 protein coding gene Chr12:105797374-105827319 (+)
FVB/NJ MGP_FVBNJ_G0019915
 protein coding gene Chr12:104580719-104609440 (+)
LP/J MGP_LPJ_G0020005
 protein coding gene Chr12:110316793-110349474 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019953
 protein coding gene Chr12:121574867-121606997 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0020518
 protein coding gene Chr12:108810654-108846616 (+)
PWK/PhJ MGP_PWKPhJ_G0019147
 protein coding gene Chr12:100409792-100444827 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018951
 protein coding gene Chr12:103020706-103049628 (+)
WSB/EiJ MGP_WSBEiJ_G0019445
 protein coding gene Chr12:109749419-109779791 (+)



Homology
more
  • Human Ortholog
    CYP46A1, cytochrome P450 family 46 subfamily A member 1
  • Vertebrate Orthologs
    7
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CYP46A1, cytochrome P450 family 46 subfamily A member 1
  • Synonyms
    CP46, CYP46
  • Links
    NCBI Gene ID: 10858
    neXtProt AC: NX_Q9Y6A2
    UniProt: Q9Y6A2

  • Chr Location
    14q32.2; chr14:99684298-99727301 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human CYP46A1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    20 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygouse for deletions in this gene are essentially normal. Levels of 24(s)-hydroxycholesterol are reduced in serum and in the brain. Cholesterol synthesis in the brain is reduced 40%.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    26
  • GO References
    10
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    810
  • Tissues
    46
  • cDNA Data
    11
  • Literature Summary
    7
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000021259 Ensembl Gene Model | MGI Sequence Detail 27854 C57BL/6J ±  kb
transcript ENSMUST00000021684 Ensembl | MGI Sequence Detail 2118 Not Applicable  
polypeptide ENSMUSP00000021684 Ensembl | MGI Sequence Detail 500 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 15
    cDNA 12
    Primer pair 3

    Microarray probesets 3
References
more
  • Summaries
    All 59
    Developmental Gene Expression 7
    Gene Ontology 10
    Phenotypes 20
  • Earliest
    J:56019 Lund EG, et al., cDNA cloning of cholesterol 24-hydroxylase, a mediator of cholesterol homeostasis in the brain. Proc Natl Acad Sci U S A. 1999 Jun 22;96(13):7238-43
  • Latest
    J:346698 Shu HJ, et al., Effects of Complete and Partial Loss of the 24S-Hydroxycholesterol-Generating Enzyme Cyp46a1 on Behavior and Hippocampal Transcription in Mouse. Biomolecules. 2024 Feb 21;14(3)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory