Homo sapiens Gene: CYP8B1
Summary
InnateDB Gene IDBG-28185.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CYP8B1
Gene Name cytochrome P450, family 8, subfamily B, polypeptide 1
Synonyms CP8B; CYP12
Species Homo sapiens
Ensembl Gene ENSG00000180432
Encoded Proteins
cytochrome P450, family 8, subfamily B, polypeptide 1
cytochrome P450, family 8, subfamily B, polypeptide 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:42856005-42876165
Strand Reverse strand
Band p22.1
Transcripts
ENST00000316161 ENSP00000318867
ENST00000437102 ENSP00000404499
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 1 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004497 monooxygenase activity
GO:0005506 iron ion binding
GO:0008397 sterol 12-alpha-hydroxylase activity
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0019825 oxygen binding
GO:0020037 heme binding
GO:0033778 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity
Biological Process
GO:0006629 lipid metabolic process
GO:0006699 bile acid biosynthetic process
GO:0006805 xenobiotic metabolic process
GO:0008206 bile acid metabolic process
GO:0016125 sterol metabolic process
GO:0044281 small molecule metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Pathways
NETPATH
REACTOME
Synthesis of bile acids and bile salts via 24-hydroxycholesterol pathway
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol pathway
Synthesis of bile acids and bile salts via 27-hydroxycholesterol pathway
Synthesis of bile acids and bile salts pathway
Synthesis of Prostaglandins (PG) and Thromboxanes (TX) pathway
Arachidonic acid metabolism pathway
Nicotinamide salvaging pathway
Nicotinate metabolism pathway
Sterols are 12-hydroxylated by CYP8B1 pathway
Endogenous sterols pathway
Eicosanoids pathway
Metabolism of lipids and lipoproteins pathway
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Bile acid and bile salt metabolism pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
Cytochrome P450 - arranged by substrate type pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Biological oxidations pathway
Disease pathway
Phase 1 - Functionalization of compounds pathway
Metabolism of vitamins and cofactors pathway
KEGG
PPAR signaling pathway pathway
Primary bile acid biosynthesis pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.447793 Hs.722743
RefSeq NM_004391
HUGO
OMIM
CCDS CCDS2707
HPRD 03705
IMGT
EMBL
GenPept
RNA Seq Atlas