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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
Location & Maps
more
Homology
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  • 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: HGNC, HomoloGene
  • Synonyms
    CP7A, CYP7, CYPVII
  • Links
    NCBI Gene ID: 1581
    neXtProt AC: NX_P22680

  • Chr Location
    8q11-q12; chr8:58490178-58500959 (-)  GRCh38.p2

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
    25 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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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  • cDNA Data
  • Literature Summary
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 22
    Genomic 3
    cDNA 17
    Primer pair 1
    Other 1

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-33776
References
more
  • Summaries
    All 63
    Developmental Gene Expression 8
    Gene Ontology 8
    Phenotypes 25
  • 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:229683 McMillin M, et al., Bile Acid Signaling Is Involved in the Neurological Decline in a Murine Model of Acute Liver Failure. Am J Pathol. 2016 Feb;186(2):312-23

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory