Cyp8b1 cytochrome P450, family 8, subfamily b, polypeptide 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cyp8b1provided by MGI
Official Full Name: cytochrome P450, family 8, subfamily b, polypeptide 1provided by MGI
Primary source: MGI:MGI:1338044
See related: Ensembl:ENSMUSG00000050445 AllianceGenome:MGI:1338044
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Predicted to enable sterol 12-alpha-hydroxylase activity. Involved in bile acid biosynthetic process and positive regulation of intestinal cholesterol absorption. Predicted to be located in endoplasmic reticulum membrane. Is expressed in several structures, including liver; lung; skeletal muscle; spleen; and testis. Orthologous to human CYP8B1 (cytochrome P450 family 8 subfamily B member 1). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: human all
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Genomic context

Location:: 9 72.73 cM; 9 F4

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (121743422..121745371, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (121914356..121916305, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Increased whole body energy expenditure and protection against diet-induced obesity in Cyp8b1-deficient mice is accompanied by altered adipose tissue features.
Title: Increased whole body energy expenditure and protection against diet-induced obesity in Cyp8b1-deficient mice is accompanied by altered adipose tissue features.
The altered bile acid composition of Cyp8b1(-/-) mice preserves metabolic and respiratory function by repressing hepatic De Novo lipogenesis and driving favorable changes in gut antimicrobial responses.
Title: Genetic ablation of Cyp8b1 preserves host metabolic function by repressing steatohepatitis and altering gut microbiota composition.
Cyp8b1(-/-) mice were resistant to Western diet-induced body weight gain, hepatic steatosis, and insulin resistance.
Title: Cyp8b1 ablation prevents Western diet-induced weight gain and hepatic steatosis because of impaired fat absorption.
Absence of Cyp8b1 results in improved glucose tolerance, insulin sensitivity, and beta-cell function, mediated by absence of cholic acid in Cyp8b1(-/-) mice.
Title: Loss of Cyp8b1 improves glucose homeostasis by increasing GLP-1.
Cholesterol lowering properties of oats involve increased production of bile acids via the classic pathway with up-regulation of CYP7A1 and CYP8B1.
Title: Diverse effects of oats on cholesterol metabolism in C57BL/6 mice correlate with expression of hepatic bile acid-producing enzymes.
RORalpha is a key regulator of diurnal rhythm and fasting induction of CYP8B1, which regulates bile acid composition and serum and liver cholesterol levels.
Title: Retinoic acid-related orphan receptor α regulates diurnal rhythm and fasting induction of sterol 12α-hydroxylase in bile acid synthesis.
The expression pattern of Cyp8b1 was studied in hepatocytes.
Title: Differential hepatocellular zonation pattern of cholesterol 7alpha-hydroxylase (Cyp7a1) and sterol 12alpha-hydroxylase (Cyp8b1) in the mouse.
In the intercross between C57BL/6J and CASA/Rk mice, Cyp8b1 is not responsible for biliary bile acid composition.
Title: Two loci on chromosome 9 control bile acid composition: evidence that a strong candidate gene, Cyp8b1, is not the culprit.
Isoflavone-related induction of 12-alpha-hydroxylase (CYP8B1) was studied in vitro and murine in vivo models.
Title: Human and murine hepatic sterol-12-alpha-hydroxylase and other xenobiotic metabolism mRNA are upregulated by soy isoflavones.
Feedback regulation of the rate-limiting biosynthetic enzyme CYP7A1 is lost in Cyp8b1(-/-) mice, causing expansion of the bile acid pool and alterations in cholesterol metabolism.
Title: Cholic acid mediates negative feedback regulation of bile acid synthesis in mice.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4) 1 citation
Targeted (4) 1 citation

General gene information

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Markers

Cyp8b1 (e-PCR), detects polymorphism
- UniSTS:463013

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 5beta-cholestane-3alpha,7alpha-diol 12alpha-hydroxylase activity	IEA Inferred from Electronic Annotation more info
enables 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity	IEA Inferred from Electronic Annotation more info
enables heme binding	IEA Inferred from Electronic Annotation more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables sterol 12-alpha-hydroxylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables sterol 12-alpha-hydroxylase activity	ISO Inferred from Sequence Orthology more info
enables sterol 12-alpha-hydroxylase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in bile acid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in bile acid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bile acid biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of intestinal cholesterol absorption	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase

Names: 7-alpha-hydroxy-4-cholesten-3-one 12-alpha-hydroxylase; CYPVIIIB1; cytochrome P450 8B1; cytochrome P450, 8b1, sterol 12 alpha-hydrolase; sterol 12-alpha-hydrolase; sterol 12-alpha-hydroxylase

NP_034142.3

EC 1.14.14.139

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.