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Cyp27a1 Gene Detail
Summary
  • Symbol
    Cyp27a1
  • Name
    cytochrome P450, family 27, subfamily a, polypeptide 1
  • Synonyms
    1300013A03Rik, cholesterol 27 hydroxylase, Cyp27
  • Feature Type
    protein coding gene
  • IDs
    MGI:88594
    NCBI Gene: 104086
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:74752733-74777051 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 38.54 cM, cytoband C3
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    123 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88594
 protein coding gene Chr1:74752311-74777056 (+)
129S1/SvImJ MGP_129S1SvImJ_G0016160
 protein coding gene Chr1:75320940-75346187 (+)
A/J MGP_AJ_G0016143
 protein coding gene Chr1:72699083-72723356 (+)
AKR/J MGP_AKRJ_G0016100
 protein coding gene Chr1:74702628-74726815 (+)
BALB/cJ MGP_BALBcJ_G0016098
 protein coding gene Chr1:72753036-72778422 (+)
C3H/HeJ MGP_C3HHeJ_G0015929
 protein coding gene Chr1:75046413-75073768 (+)
C57BL/6NJ MGP_C57BL6NJ_G0016551
 protein coding gene Chr1:78254528-78279891 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0014272
 protein coding gene Chr1:68260662-68286439 (+)
CAST/EiJ MGP_CASTEiJ_G0015513
 protein coding gene Chr1:74363361-74391504 (+)
CBA/J MGP_CBAJ_G0015902
 protein coding gene Chr1:80808869-80833185 (+)
DBA/2J MGP_DBA2J_G0016003
 protein coding gene Chr1:72015701-72040340 (+)
FVB/NJ MGP_FVBNJ_G0016006
 protein coding gene Chr1:71201561-71226471 (+)
LP/J MGP_LPJ_G0016075
 protein coding gene Chr1:76435105-76462561 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0016026
 protein coding gene Chr1:84185483-84211657 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0016598
 protein coding gene Chr1:74773386-74800817 (+)
PWK/PhJ MGP_PWKPhJ_G0015300
 protein coding gene Chr1:71469745-71497397 (+)
SPRET/EiJ MGP_SPRETEiJ_G0015078
 protein coding gene Chr1:74138216-74169652 (+)
WSB/EiJ MGP_WSBEiJ_G0015575
 protein coding gene Chr1:74588114-74607162 (+)



Homology
more
  • Human Ortholog
    CYP27A1, cytochrome P450 family 27 subfamily A member 1
  • Vertebrate Orthologs
    7
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CYP27A1, cytochrome P450 family 27 subfamily A member 1
  • Synonyms
    CP27, CTX, CYP27
  • Links
    NCBI Gene ID: 1593
    neXtProt AC: NX_Q02318
    UniProt: Q02318

  • Chr Location
    2q35; chr2:218781749-218815293 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human CYP27A1 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
    38 phenotypes from 2 alleles in 3 genetic backgrounds
    4 phenotypes from multigenic genotypes
    50 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.
Homozygous null allele show hepato- and adrenomegaly, reduced bile acid synthesis, increased cholesterol 7alpha-hydroxylase activity and 7alpha-hydroxycholesterol levels, slightly higher 25-hydroxyvitamin D levels, and altered hepatic fatty acid, triacylglycerol, and adrenal cholesterol homeostasis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    39
  • GO References
    12
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    772
  • Tissues
    43
  • cDNA Data
    62
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000026170 Ensembl Gene Model | MGI Sequence Detail 24319 C57BL/6J ±  kb
    transcript ENSMUST00000027356 Ensembl | MGI Sequence Detail 1892 Not Applicable  
    polypeptide ENSMUSP00000027356 Ensembl | MGI Sequence Detail 533 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 71
      Genomic 4
      cDNA 62
      Primer pair 5

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-2311, MGI:1922018
    References
    more
    • Summaries
      All 101
      Developmental Gene Expression 6
      Gene Ontology 12
      Phenotypes 50
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:337671 Ceglia S, et al., An epithelial cell-derived metabolite tunes immunoglobulin A secretion by gut-resident plasma cells. Nat Immunol. 2023 Mar;24(3):531-544
    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
    04/09/2024
    MGI 6.23     		The Jackson Laboratory