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Identification
HMDB Protein ID HMDBP06125
Secondary Accession Numbers
  • 11727
Name 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase
Synonyms
  1. 7-alpha-hydroxy-4-cholesten-3-one 12-alpha-hydroxylase
  2. CYPVIIIB1
  3. Cytochrome P450 8B1
  4. Sterol 12-alpha-hydroxylase
Gene Name CYP8B1
Protein Type Unknown
Biological Properties
General Function Involved in monooxygenase activity
Specific Function Involved in bile acid synthesis and is responsible for the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7 alpha, 12 alpha-dihydroxy-4-cholesten-3-one. Responsible for the balance between formation of cholic acid and chenodeoxycholic acid. Has a rather broad substrate specificity including a number of 7-alpha-hydroxylated C27 steroids.
Pathways
  • 27-Hydroxylase Deficiency
  • Bile Acid Biosynthesis
  • Cerebrotendinous Xanthomatosis (CTX)
  • Congenital Bile Acid Synthesis Defect Type II
  • Congenital Bile Acid Synthesis Defect Type III
  • Familial Hypercholanemia (FHCA)
  • PPAR signaling pathway
  • Primary bile acid biosynthesis
  • Zellweger Syndrome
Reactions
7a-Hydroxy-cholestene-3-one + NADPH + Oxygen → 7a,12a-Dihydroxy-cholestene-3-one + NADP + Water details
7a-Hydroxy-cholestene-3-one + Hydrogen Ion + Oxygen + NADPH → 7a,12a-Dihydroxy-cholestene-3-one + NADP + Water details
GO Classification
Biological Process
bile acid biosynthetic process
xenobiotic metabolic process
Cellular Component
endoplasmic reticulum membrane
integral to membrane
Function
ion binding
cation binding
metal ion binding
binding
catalytic activity
transition metal ion binding
electron carrier activity
iron ion binding
monooxygenase activity
heme binding
oxidoreductase activity
Molecular Function
electron carrier activity
oxygen binding
iron ion binding
heme binding
7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity
sterol 12-alpha-hydroxylase activity
Cellular Location
  1. Endoplasmic reticulum membrane
  2. Single-pass membrane protein
  3. Single-pass membrane protein
  4. Microsome membrane
Gene Properties
Chromosome Location 3
Locus 3p22.1
SNPs CYP8B1
Gene Sequence
>1506 bp
ATGGTTCTCTGGGGTCCAGTGCTGGGAGCTCTGCTGGTGGTCATTGCTGGATACCTGTGC
CTGCCAGGGATGCTCCGACAACGCAGGCCATGGGAGCCCCCTCTGGACAAGGGTACCGTG
CCCTGGCTTGGCCATGCCATGGCTTTCCGGAAGAATATGTTTGAATTTCTGAAGCGCATG
AGGACCAAGCATGGGGATGTGTTCACAGTGCAGCTAGGGGGCCAGTACTTCACCTTCGTC
ATGGACCCCCTCTCCTTTGGCCCCATCCTCAAGGACACACAGAGAAAACTAGACTTTGGG
CAATATGCAAAAAAACTGGTGCTGAAGGTATTTGGATACCGTTCAGTGCAAGGGGACCAT
GAGATGATACACTCAGCCAGCACCAAGCATCTGAGGGGGGATGGCTTGAAGGATCTTAAT
GAGACCATGCTGGACAGCCTGTCCTTTGTAATGCTGACGTCCAAAGGCTGGAGTCTGGAT
GCCAGTTGCTGGCATGAGGACAGCCTCTTTCGCTTCTGCTATTACATCTTGTTCACAGCT
GGCTACCTGAGCTTGTTCGGCTACACGAAGGACAAGGAGCAGGACCTGCTACAGGCAGGA
GAGTTATTCATGGAGTTCCGCAAGTTTGACCTTCTTTTCCCAAGGTTTGTCTACTCCCTG
CTGTGGCCCCGGGAGTGGCTAGAAGTGGGCCGACTCCAGCGTCTCTTTCACAAGATGCTC
TCCGTGAGCCACAGCCAGGAGAAGGAGGGCATCAGCAACTGGCTGGGCAACATGCTTCAG
TTTCTGAGGGAGCAGGGGGTACCCTCAGCTATGCAGGACAAGTTCAACTTCATGATGCTC
TGGGCCTCCCAGGGGAACACGGGGCCTACCTCTTTCTGGGCCCTCTTGTACCTCCTGAAG
CACCCAGAAGCTATTCGGGCTGTGAGGGAGGAAGCTACCCAGGTCCTGGGTGAGGCCAGG
CTGGAGACCAAGCAGTCCTTTGCCTTCAAACTCGGTGCCCTGCAACACACCCCAGTTCTA
GACAGCGTGGTGGAGGAGACGCTGCGGCTGAGGGCTGCACCCACCCTCCTCAGGTTGGTT
CATGAAGACTATACCCTGAAGATGTCCAGTGGGCAGGAGTATCTGTTCCGCCATGGAGAC
ATCCTGGCCCTCTTTCCCTACCTCTCAGTGCACATGGACCCTGACATCCACCCTGAGCCC
ACCGTCTTCAAGTACGATCGCTTCCTCAACCCTAATGGCAGCCGGAAAGTGGACTTCTTC
AAGACAGGCAAGAAGATCCACCACTACACCATGCCCTGGGGTTCGGGCGTTTCCATCTGC
CCTGGGAGGTTCTTTGCACTCAGTGAGGTGAAGCTCTTTATCCTGCTTATGGTCACACAC
TTTGACTTAGAGTTGGTGGACCCTGACACACCACTACCCCATGTTGACCCGCAGCGCTGG
GGTTTTGGCACCATGCAGCCCAGCCACGATGTGCGCTTCCGCTACCGCCTGCATCCTACA
GAGTGA
Protein Properties
Number of Residues 501
Molecular Weight 58068.01
Theoretical pI 8.663
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase
MVLWGPVLGALLVVIAGYLCLPGMLRQRRPWEPPLDKGTVPWLGHAMAFRKNMFEFLKRM
RTKHGDVFTVQLGGQYFTFVMDPLSFGSILKDTQRKLDFGQYAKKLVLKVFGYRSVQGDH
EMIHSASTKHLRGDGLKDLNETMLDSLSFVMLTSKGWSLDASCWHEDSLFRFCYYILFTA
GYLSLFGYTKDKEQDLLQAGELFMEFRKFDLLFPRFVYSLLWPREWLEVGRLQRLFHKML
SVSHSQEKEGISNWLGNMLQFLREQGVPSAMQDKFNFMMLWASQGNTGPTSFWALLYLLK
HPEAIRAVREEATQVLGEARLETKQSFAFKLGALQHTPVLDSVVEETLRLRAAPTLLRLV
HEDYTLKMSSGQEYLFRHGDILALFPYLSVHMDPDIHPEPTVFKYDRFLNPNGSRKVDFF
KTGKKIHHYTMPWGSGVSICPGRFFALSEVKLFILLMVTHFDLELVDPDTPLPHVDPQRW
GFGTMQPSHDVRFRYRLHPTE
GenBank ID Protein 4406150
UniProtKB/Swiss-Prot ID Q9UNU6
UniProtKB/Swiss-Prot Entry Name CP8B1_HUMAN
PDB IDs Not Available
GenBank Gene ID AF090320
GeneCard ID CYP8B1
GenAtlas ID CYP8B1
HGNC ID HGNC:2653
References
General References
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  4. Gafvels M, Olin M, Chowdhary BP, Raudsepp T, Andersson U, Persson B, Jansson M, Bjorkhem I, Eggertsen G: Structure and chromosomal assignment of the sterol 12alpha-hydroxylase gene (CYP8B1) in human and mouse: eukaryotic cytochrome P-450 gene devoid of introns. Genomics. 1999 Mar 1;56(2):184-96. [PubMed:10051404 ]