• Gene id: 340665

Gene Summary

• Gene Symbol: CYP26C1   Gene   UCSC   Ensembl
• Aliases: FFDD4
• Gene name: cytochrome P450 family 26 subfamily C member 1
• Alternate names: cytochrome P450 26C1, cytochrome P450, family 26, subfamily C, polypeptide 1,
• Gene location: 10q23.33 (93060797: 93069539)     Exons: 6     NC_000010.11
• 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 enzyme is inv
• OMIM: 618545

Protein Summary

• Protein general information: Q6V0L0  
  • Name: Cytochrome P450 26C1 (EC 1.14. . )
  • Length: 522  
  • Mass: 57111
  • Tissue specificity: Detected in most tissues at very low level. {ECO
• Sequence:

  MFPWGLSCLSVLGAAGTALLCAGLLLSLAQHLWTLRWMLSRDRASTLPLPKGSMGWPFFGETLHWLVQGSRFHSS
  RRERYGTVFKTHLLGRPVIRVSGAENVRTILLGEHRLVRSQWPQSAHILLGSHTLLGAVGEPHRRRRKVLARVFS
  RAALERYVPRLQGALRHEVRSWCAAGGPVSVYDASKALTFRMAARILLGLRLDEAQCATLARTFEQLVENLFSLP
  LDVPFSGLRKGIRARDQLHRHLEGAISEKLHEDKAAEPGDALDLIIHSARELGHEPSMQELKESAVELLFAAFFT
  TASASTSLVLLLLQHPAAIAKIREELVAQGLGRACGCAPGAAGGSEGPPPDCGCEPDLSLAALGRLRYVDCVVKE
  VLRLLPPVSGGYRTALRTFELDGYQIPKGWSVMYSIRDTHETAAVYRSPPEGFDPERFGAAREDSRGASSRFHYI
  PFGGGARSCLGQELAQAVLQLLAVELVRTARWELATPAFPAMQTVPIVHPVDGLRLFFHPLTPSVAGNGLCL

• Structural information:
  • Interpro: IPR001128  IPR017972  IPR002403  IPR036396  
  • Prosite: PS00086
  • STRING: ENSP00000285949
• Other Databases: GeneCards:  CYP26C1  Malacards:  CYP26C1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0055114	oxidation-reduction process	IBA	biological process
GO:0006696	ergosterol biosynthetic process	IBA	biological process
GO:0004497	monooxygenase activity	IBA	molecular function
GO:0016491	oxidoreductase activity	IBA	molecular function
GO:0016125	sterol metabolic process	IBA	biological process
GO:0000249	C-22 sterol desaturase 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:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006766	vitamin 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:0008401	retinoic acid 4-hydroxylase activity	TAS	molecular function
GO:0007417	central nervous system development	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0014032	neural crest cell development	IEA	biological process
GO:0048284	organelle fusion	IEA	biological process
GO:0008401	retinoic acid 4-hydroxylase activity	IDA	molecular function
GO:0001972	retinoic acid binding	IDA	molecular function
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0034653	retinoic acid catabolic process	IDA	biological process
GO:0007417	central nervous system development	ISS	biological process
GO:0009952	anterior/posterior pattern specification	ISS	biological process
GO:0014032	neural crest cell development	ISS	biological process
GO:0048284	organelle fusion	ISS	biological process
GO:0048387	negative regulation of retinoic acid receptor signaling pathway	NAS	biological process
GO:0016020	membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00830	Retinol metabolism

Diseases

Associated diseases	References
Focal facial dermal dysplasia	KEGG:H02083
Focal facial dermal dysplasia	KEGG:H02083
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881