CYP8B1 (cytochrome P450 family 8 subfamily B member 1)

2014-11-01 Affiliation

Identity

HGNC

CYP8B1

LOCATION

3p22.1

LOCUSID

1582

ALIAS

CP8B,CYP12

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 1582
MIM: 602172
HGNC: 2653
Ensembl: ENSG00000180432

Variants:

dbSNP: 1582
ClinVar: 1582
TCGA: ENSG00000180432
COSMIC: CYP8B1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000180432	ENST00000316161	Q9UNU6
ENSG00000180432	ENST00000437102	C9JFR9

Expression (GTEx)

100

150

200

250

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Primary bile acid biosynthesis	KEGG	ko00120
PPAR signaling pathway	KEGG	ko03320
Primary bile acid biosynthesis	KEGG	hsa00120
PPAR signaling pathway	KEGG	hsa03320
Metabolic pathways	KEGG	hsa01100
Bile acid biosynthesis, cholesterol => cholate/chenodeoxycholate	KEGG	hsa_M00104
Bile acid biosynthesis, cholesterol => cholate/chenodeoxycholate	KEGG	M00104
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Bile acid and bile salt metabolism	REACTOME	R-HSA-194068
Synthesis of bile acids and bile salts	REACTOME	R-HSA-192105
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol	REACTOME	R-HSA-193368
Synthesis of bile acids and bile salts via 24-hydroxycholesterol	REACTOME	R-HSA-193775
Synthesis of bile acids and bile salts via 27-hydroxycholesterol	REACTOME	R-HSA-193807
Arachidonic acid metabolism	REACTOME	R-HSA-2142753
Synthesis of Prostaglandins (PG) and Thromboxanes (TX)	REACTOME	R-HSA-2162123
Metabolism of vitamins and cofactors	REACTOME	R-HSA-196854
Metabolism of water-soluble vitamins and cofactors	REACTOME	R-HSA-196849
Nicotinate metabolism	REACTOME	R-HSA-196807
Nicotinamide salvaging	REACTOME	R-HSA-197264
Biological oxidations	REACTOME	R-HSA-211859
Phase 1 - Functionalization of compounds	REACTOME	R-HSA-211945
Cytochrome P450 - arranged by substrate type	REACTOME	R-HSA-211897
Endogenous sterols	REACTOME	R-HSA-211976
Sterols are 12-hydroxylated by CYP8B1	REACTOME	R-HSA-211994
Eicosanoids	REACTOME	R-HSA-211979

References

Pubmed ID	Year	Title	Citations
19898482	2009	Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.	84
18660489	2008	Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.	26
24226095	2013	Retinoic acid-related orphan receptor α regulates diurnal rhythm and fasting induction of sterol 12α-hydroxylase in bile acid synthesis.	25
15891895	2005	Human sterol 12a-hydroxylase (CYP8B1) is mainly expressed in hepatocytes in a homogenous pattern.	7
16937432	2006	Suppression of bile acid synthesis by thyroid hormone in primary human hepatocytes.	7
17585019	2007	Human and murine hepatic sterol-12-alpha-hydroxylase and other xenobiotic metabolism mRNA are upregulated by soy isoflavones.	6
15249218	2004	Mechanisms of cholesterol and sterol regulatory element binding protein regulation of the sterol 12alpha-hydroxylase gene (CYP8B1).	3
22093981	2011	[Association of single nucleotide polymorphism in human CYP8B1 gene with gallstone disease].	1
23216301	2013	Single nucleotide polymorphism rs3732860 in the 3'-untranslated region of CYP8B1 gene is associated with gallstone disease in Han Chinese.	1
30465713	2019	Conversion of chenodeoxycholic acid to cholic acid by human CYP8B1.	1

Citation

Dessen P

CYP8B1 (cytochrome P450 family 8 subfamily B member 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62272/cyp8b1