• Gene id: 1580

Gene Summary

• Gene Symbol: CYP4B1   Gene   UCSC   Ensembl
• Aliases: CYPIVB1, P-450HP
• Gene name: cytochrome P450 family 4 subfamily B member 1
• Alternate names: cytochrome P450 4B1, cytochrome P450, family 4, subfamily B, polypeptide 1, cytochrome P450, subfamily IVB, polypeptide 1, cytochrome P450-HP, microsomal monooxygenase,
• Gene location: 1p33 (46799045: 46819412)     Exons: 12     NC_000001.11
• 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 protein local
• OMIM: 124075

SNPs

rs12339229

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

NC_000009.12   g.28093234C>T
NC_000009.11   g.28093232C>T|SEQ=[C/T]|GENE=LINGO2

Protein Summary

• Protein general information: P13584  
  • Name: Cytochrome P450 4B1 (EC 1.14.14.1) (CYPIVB1) (Cytochrome P450 HP)
  • Length: 511  
  • Mass: 58991
  • Tissue specificity: Detected in the liver and lung (at protein level). {ECO
• Sequence:

  MVPSFLSLSFSSLGLWASGLILVLGFLKLIHLLLRRQTLAKAMDKFPGPPTHWLFGHALEIQETGSLDKVVSWAH
  QFPYAHPLWFGQFIGFLNIYEPDYAKAVYSRGDPKAPDVYDFFLQWIGRGLLVLEGPKWLQHRKLLTPGFHYDVL
  KPYVAVFTESTRIMLDKWEEKAREGKSFDIFCDVGHMALNTLMKCTFGRGDTGLGHRDSSYYLAVSDLTLLMQQR
  LVSFQYHNDFIYWLTPHGRRFLRACQVAHDHTDQVIRERKAALQDEKVRKKIQNRRHLDFLDILLGARDEDDIKL
  SDADLRAEVDTFMFEGHDTTTSGISWFLYCMALYPEHQHRCREEVREILGDQDFFQWDDLGKMTYLTMCIKESFR
  LYPPVPQVYRQLSKPVTFVDGRSLPAGSLISMHIYALHRNSAVWPDPEVFDSLRFSTENASKRHPFAFMPFSAGP
  RNCIGQQFAMSEMKVVTAMCLLRFEFSLDPSRLPIKMPQLVLRSKNGFHLHLKPLGPGSGK

• Structural information:
  • Interpro: IPR001128  IPR017972  IPR002401  IPR036396  
  • Prosite: PS00086
  • STRING: ENSP00000360991
• Other Databases: GeneCards:  CYP4B1  Malacards:  CYP4B1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004497	monooxygenase activity	IBA	molecular function
GO:0055114	oxidation-reduction process	IBA	biological process
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:0005783	endoplasmic reticulum	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0019825	oxygen binding	TAS	molecular function
GO:0070330	aromatase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0008144	drug binding	IEA	molecular function
GO:0018585	fluorene oxygenase activity	IEA	molecular function
GO:0042738	exogenous drug catabolic process	IEA	biological process
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0006725	cellular aromatic compound metabolic process	IEA	biological process
GO:0015643	toxic substance binding	IEA	molecular function
GO:0018879	biphenyl metabolic process	IEA	biological process
GO:0018917	fluorene metabolic process	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031090	organelle membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq