• Gene id: 1582

Gene Summary

• Gene Symbol: CYP8B1   Gene   UCSC   Ensembl
• Aliases: CP8B, CYP12
• Gene name: cytochrome P450 family 8 subfamily B member 1
• Alternate names: 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase, 7 alpha-hydroxy-4-cholesten-3-one 12-alpha-hydroxylase, CYPVIIIB1, cytochrome P450 8B1, cytochrome P450, family 8, subfamily B, polypeptide 1, cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase,
• Gene location: 3p22.1 (42875878: 42872191)     Exons: 1     NC_000003.12
• Gene summary(Entrez): 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 r
• OMIM: 602172

SNPs

rs397515621

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.55439557G>A
NC_000015.10   g.55439557G>C
NC_000015.9   g.55731755G>A
NC_000015.9   g.55731755G>C
NG_021213.1   g.73678C>T
NG_021213.1   g.73678C>G
NM_130810.4   c.808C>T
NM_130810.4   c.808C>G
NM_130810.3   c.808C>T
NM_130810.3   c.808C>G
NM_001033559.2  

Protein Summary

• Protein general information: Q9UNU6  
  • Name: 7 alpha hydroxycholest 4 en 3 one 12 alpha hydroxylase (EC 1.14.18.8) (7 alpha hydroxy 4 cholesten 3 one 12 alpha hydroxylase) (CYPVIIIB1) (Cytochrome P450 8B1) (Sterol 12 alpha hydroxylase)
  • Length: 501  
  • Mass: 58068
  • Tissue specificity: Liver.
• Sequence:

  MVLWGPVLGALLVVIAGYLCLPGMLRQRRPWEPPLDKGTVPWLGHAMAFRKNMFEFLKRMRTKHGDVFTVQLGGQ
  YFTFVMDPLSFGSILKDTQRKLDFGQYAKKLVLKVFGYRSVQGDHEMIHSASTKHLRGDGLKDLNETMLDSLSFV
  MLTSKGWSLDASCWHEDSLFRFCYYILFTAGYLSLFGYTKDKEQDLLQAGELFMEFRKFDLLFPRFVYSLLWPRE
  WLEVGRLQRLFHKMLSVSHSQEKEGISNWLGNMLQFLREQGVPSAMQDKFNFMMLWASQGNTGPTSFWALLYLLK
  HPEAIRAVREEATQVLGEARLETKQSFAFKLGALQHTPVLDSVVEETLRLRAAPTLLRLVHEDYTLKMSSGQEYL
  FRHGDILALFPYLSVHMDPDIHPEPTVFKYDRFLNPNGSRKVDFFKTGKKIHHYTMPWGSGVSICPGRFFALSEV
  KLFILLMVTHFDLELVDPDTPLPHVDPQRWGFGTMQPSHDVRFRYRLHPTE

• Structural information:
  • Interpro: IPR001128  IPR024204  IPR002403  IPR036396  IPR030686  
  • STRING: ENSP00000318867
• Other Databases: GeneCards:  CYP8B1  Malacards:  CYP8B1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008397	sterol 12-alpha-hydroxylase activity	IBA	molecular function
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0020037	heme binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0019825	oxygen binding	TAS	molecular function
GO:0008397	sterol 12-alpha-hydroxylase activity	TAS	molecular function
GO:0016125	sterol metabolic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006699	bile acid biosynthetic process	TAS	biological process
GO:0006699	bile acid biosynthetic process	TAS	biological process
GO:0006699	bile acid biosynthetic process	TAS	biological process
GO:0008397	sterol 12-alpha-hydroxylase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031090	organelle membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa03320	PPAR signaling pathway
hsa00120	Primary bile acid biosynthesis

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)