CYP8B1 cytochrome P450 family 8 subfamily B member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CYP8B1provided by HGNC
Official Full Name: cytochrome P450 family 8 subfamily B member 1provided by HGNC
Primary source: HGNC:HGNC:2653
See related: Ensembl:ENSG00000180432 MIM:602172; AllianceGenome:HGNC:2653
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CP8B; CYP12; CYPVIIIB1
Summary: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these two steroids determines the relative amounts of cholic acid and chenodeoxycholic acid both of which are secreted in the bile and affect the solubility of cholesterol. This gene is unique among the cytochrome P450 genes in that it is intronless. [provided by RefSeq, Jul 2008]
Orthologs: mouse all
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Genomic context

Location:: 3p22.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (42872192..42875879, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (42887769..42891456, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (42913684..42917371, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Haploinsufficiency of CYP8B1 associates with increased insulin sensitivity in humans.
Title: Haploinsufficiency of CYP8B1 associates with increased insulin sensitivity in humans.
demonstration that CYP8B1 can also convert chenodeoxycholic acid (CDCA) itself to cholic acid (CA)
Title: Conversion of chenodeoxycholic acid to cholic acid by human CYP8B1.
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 single nucleotide polymorphism rs3732860 in the 3'-untranslated region of the CYP8B1 gene is associated with risk of Gallstone Disease in Chinese Han.
Title: Single nucleotide polymorphism rs3732860 in the 3'-untranslated region of CYP8B1 gene is associated with gallstone disease in Han Chinese.
SNP rs3732860 of CYP8B1 gene is associated with gallstone disease in this Chinese population.
Title: [Association of single nucleotide polymorphism in human CYP8B1 gene with gallstone disease].
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.
T(3) dose-dependently decreased total bile acid formation in parallel with decreased expression of CYP7A1 and CYP8B1
Title: Suppression of bile acid synthesis by thyroid hormone in primary human hepatocytes.
Studies indicate a homogenous pattern for CYP8B1 expression in human liver, which was even rather than zonal.
Title: Human sterol 12a-hydroxylase (CYP8B1) is mainly expressed in hepatocytes in a homogenous pattern.
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.
Cholesterol loading reduces SREBP-1 mRNA expression in addition to reducing functional SREBP-1 protein, and results in decreasing CYP8B1 gene transcription.
Title: Mechanisms of cholesterol and sterol regulatory element binding protein regulation of the sterol 12alpha-hydroxylase gene (CYP8B1).

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-76869 (e-PCR)
- UniSTS:62508

D8S2279 (e-PCR)
- UniSTS:473907

CYP8B1_1900 (e-PCR)
- UniSTS:280641

SHGC-173157 (e-PCR)
- UniSTS:185337

Gene Ontology Provided by GOA

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	TAS Traceable Author Statement more info
enables heme binding	IEA Inferred from Electronic Annotation more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables oxygen binding	TAS Traceable Author Statement more info	PubMed
enables sterol 12-alpha-hydroxylase activity	IBA Inferred from Biological aspect of Ancestor 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	ISS Inferred from Sequence or Structural Similarity more info
involved_in bile acid biosynthetic process	TAS Traceable Author Statement more info
involved_in positive regulation of intestinal cholesterol absorption	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to cholesterol	IEA Inferred from Electronic Annotation more info
involved_in response to nutrient levels	IEA Inferred from Electronic Annotation more info
involved_in sterol metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement 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; cytochrome P450 8B1; cytochrome P450, family 8, subfamily B, polypeptide 1; cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1; sterol 12-alpha-hydroxylase

NP_004382.2

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.