CYP8B1 (cytochrome P450 family 8 subfamily B member 1)

2014-11-01  

Identity

HGNC
LOCATION
3p22.1
LOCUSID
ALIAS
CP8B,CYP12

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000180432ENST00000316161Q9UNU6
ENSG00000180432ENST00000437102C9JFR9

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
Primary bile acid biosynthesisKEGGko00120
PPAR signaling pathwayKEGGko03320
Primary bile acid biosynthesisKEGGhsa00120
PPAR signaling pathwayKEGGhsa03320
Metabolic pathwaysKEGGhsa01100
Bile acid biosynthesis, cholesterol => cholate/chenodeoxycholateKEGGhsa_M00104
Bile acid biosynthesis, cholesterol => cholate/chenodeoxycholateKEGGM00104
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Bile acid and bile salt metabolismREACTOMER-HSA-194068
Synthesis of bile acids and bile saltsREACTOMER-HSA-192105
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterolREACTOMER-HSA-193368
Synthesis of bile acids and bile salts via 24-hydroxycholesterolREACTOMER-HSA-193775
Synthesis of bile acids and bile salts via 27-hydroxycholesterolREACTOMER-HSA-193807
Arachidonic acid metabolismREACTOMER-HSA-2142753
Synthesis of Prostaglandins (PG) and Thromboxanes (TX)REACTOMER-HSA-2162123
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Nicotinate metabolismREACTOMER-HSA-196807
Nicotinamide salvagingREACTOMER-HSA-197264
Biological oxidationsREACTOMER-HSA-211859
Phase 1 - Functionalization of compoundsREACTOMER-HSA-211945
Cytochrome P450 - arranged by substrate typeREACTOMER-HSA-211897
Endogenous sterolsREACTOMER-HSA-211976
Sterols are 12-hydroxylated by CYP8B1REACTOMER-HSA-211994
EicosanoidsREACTOMER-HSA-211979

References

Pubmed IDYearTitleCitations
361076302022Haploinsufficiency of CYP8B1 associates with increased insulin sensitivity in humans.6
361076302022Haploinsufficiency of CYP8B1 associates with increased insulin sensitivity in humans.6
304657132019Conversion of chenodeoxycholic acid to cholic acid by human CYP8B1.13
304657132019Conversion of chenodeoxycholic acid to cholic acid by human CYP8B1.13
232163012013Single nucleotide polymorphism rs3732860 in the 3'-untranslated region of CYP8B1 gene is associated with gallstone disease in Han Chinese.2
242260952013Retinoic acid-related orphan receptor α regulates diurnal rhythm and fasting induction of sterol 12α-hydroxylase in bile acid synthesis.35
232163012013Single nucleotide polymorphism rs3732860 in the 3'-untranslated region of CYP8B1 gene is associated with gallstone disease in Han Chinese.2
242260952013Retinoic acid-related orphan receptor α regulates diurnal rhythm and fasting induction of sterol 12α-hydroxylase in bile acid synthesis.35
220939812011[Association of single nucleotide polymorphism in human CYP8B1 gene with gallstone disease].1
220939812011[Association of single nucleotide polymorphism in human CYP8B1 gene with gallstone disease].1
198984822009Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.105
198984822009Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.105
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.29
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.29
175850192007Human and murine hepatic sterol-12-alpha-hydroxylase and other xenobiotic metabolism mRNA are upregulated by soy isoflavones.6

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-(cytochrome-p450-family-8-subfamily-b-member-1)