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Cyp7a1 Gene Detail
Summary
  • Symbol
    Cyp7a1
  • Name
    cytochrome P450, family 7, subfamily a, polypeptide 1
  • Synonyms
    cholesterol 7 alpha hydroxylase
  • Feature Type
    protein coding gene
  • IDs
    MGI:106091
    NCBI Gene: 13122
  • Alliance
Location & Maps
more
  • Genetic Map
    Chromosome 4, 2.91 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    CYP7A1, cytochrome P450 family 7 subfamily A member 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CYP7A1, cytochrome P450 family 7 subfamily A member 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CP7A, CYP7, CYPVII
  • Links
    NCBI Gene ID: 1581
    neXtProt AC: NX_P22680
    UniProt: P22680

  • Chr Location
    8q12.1; chr8:58490178-58500161 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    28 phenotypes from 1 allele in 1 genetic background
    6 phenotypes from multigenic genotypes
    3 images
    28 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for disruption of this gene experience severe neonatal and postnatal lethality. Supplementation of the maternal diet with fat soluble vitamins and cholic acid starting before birth alleviates much of the phenotype.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000004315 VEGA Gene Model | MGI Sequence Detail 10022 C57BL/6J ±  kb
    transcript OTTMUST00000009776 VEGA | MGI Sequence Detail 4172 Not Applicable  
    polypeptide OTTMUSP00000004700 VEGA | MGI Sequence Detail 503 Not Applicable  
    For the selected sequence
    Polymorphisms
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    • SNPs within 2kb
      111 from dbSNP Build 142
    • RFLP
    Protein
    Information
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    Molecular
    Reagents
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    • All nucleic 24
      Genomic 3
      cDNA 18
      Primer pair 2
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
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    MGD-MRK-33776
    References
    more
    • Summaries
      All 84
      Developmental Gene Expression 11
      Gene Ontology 9
      Phenotypes 28
    • Earliest
      J:18307 Tzung KW, et al., Structure of the mouse cholesterol 7 alpha-hydroxylase gene. Genomics. 1994 May 1;21(1):244-7
    • Latest
      J:253883 Lee EA, et al., Cyp7a1 is continuously increased with disrupted Fxr-mediated feedback inhibition in hypercholesterolemic TALLYHO/Jng mice. Biochim Biophys Acta. 2018 Jan;1863(1):20-25

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    10/09/2018
    MGI 6.12
    The Jackson Laboratory