CYP26C1 (cytochrome P450 family 26 subfamily C member 1)

Gene

• Entrez ID: 340665
• Gene name: Cytochrome P450 family 26 subfamily C member 1
• Gene symbol: CYP26C1
• Synonyms (NCBI Gene): FFDD4
• Chromosome: 10
• Chromosome location: 10q23.33
• 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 enzyme is inv

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001972	Function	Retinoic acid binding	IDA	14532297
GO:0001972	Function	Retinoic acid binding	IEA
GO:0004497	Function	Monooxygenase activity	IBA
GO:0004497	Function	Monooxygenase activity	IEA
GO:0005506	Function	Iron ion binding	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006766	Process	Vitamin metabolic process	TAS
GO:0007417	Process	Central nervous system development	IBA
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	ISS
GO:0008401	Function	Retinoic acid 4-hydroxylase activity	IDA	14532297
GO:0008401	Function	Retinoic acid 4-hydroxylase activity	IEA
GO:0008401	Function	Retinoic acid 4-hydroxylase activity	TAS
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0009952	Process	Anterior/posterior pattern specification	ISS
GO:0014032	Process	Neural crest cell development	IEA
GO:0014032	Process	Neural crest cell development	ISS
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0016712	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IEA
GO:0020037	Function	Heme binding	IEA
GO:0034653	Process	Retinoic acid catabolic process	IBA
GO:0034653	Process	Retinoic acid catabolic process	IDA	14532297
GO:0034653	Process	Retinoic acid catabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048284	Process	Organelle fusion	IEA
GO:0048284	Process	Organelle fusion	ISS
GO:0048387	Process	Negative regulation of retinoic acid receptor signaling pathway	NAS	14532297

Other IDs

• MIM: 608428
• HGNC: 20577
• e!Ensembl: ENSG00000187553

Protein

• UniProt ID: Q6V0L0
• Protein name: Cytochrome P450 26C1 (CYP26C1) (EC 1.14.14.1)
• Protein function: A cytochrome P450 monooxygenase involved in the metabolism of retinoates (RAs), the active metabolites of vitamin A, and critical signaling molecules in animals (PubMed:14532297). RAs exist as at least four different isomers: all-trans-RA (atRA)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00067	p450	50 → 498	Cytochrome P450	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in most tissues at very low level. {ECO:0000269|PubMed:14532297}.
• Sequence:

  MFPWGLSCLSVLGAAGTALLCAGLLLSLAQHLWTLRWMLSRDRASTLPLPKGSMGWPFFG
  ETLHWLVQGSRFHSSRRERYGTVFKTHLLGRPVIRVSGAENVRTILLGEHRLVRSQWPQS
  AHILLGSHTLLGAVGEPHRRRRKVLARVFSRAALERYVPRLQGALRHEVRSWCAAGGPVS
  VYDASKALTFRMAARILLGLRLDEAQCATLARTFEQLVENLFSLPLDVPFSGLRKGIRAR
  DQLHRHLEGAISEKLHEDKAAEPGDALDLIIHSARELGHEPSMQELKESAVELLFAAFFT
  TASASTSLVLLLLQHPAAIAKIREELVAQGLGRACGCAPGAAGGSEGPPPDCGCEPDLSL
  AALGRLRYVDCVVKEVLRLLPPVSGGYRTALRTFELDGYQIPKGWSVMYSIRDTHETAAV
  YRSPPEGFDPERFGAAREDSRGASSRFHYIPFGGGARSCLGQELAQAVLQLLAVELVRTA
  RWELATPAFPAMQTVPIVHPVDGLRLFFHPLTPSVAGNGLCL

• Sequence length: 522

Pathways

KEGG:

Retinol metabolism
Metabolic pathways

Reactome:

Vitamins
RA biosynthesis pathway
Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4)

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Focal facial dermal dysplasia type IV	Likely pathogenic	rs929909433	RCV003990361

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign	rs7917267	RCV005906633
Anophthalmia-microphthalmia syndrome	Likely benign	rs869025253	RCV000207357
CYP26C1-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	rs140502479, rs114084223, rs1408332340, rs565866662, rs7917267, rs61729502, rs142943213	RCV003904164 RCV003977107 RCV003931487 RCV004758039 RCV003903237 RCV003928403 RCV003957945
Optic nerve hypoplasia	Conflicting classifications of pathogenicity; Likely benign	rs565866662, rs201284617	RCV000677253 RCV000677254
Uterine corpus endometrial carcinoma	Benign	rs7917267	RCV005906634

Associations from Text Mining
Disease Name	Relationship Type	References
Cerebral Small Vessel Diseases	Associate	34681016
Neoplasms	Associate	31465460
Pharyngeal Neoplasms	Associate	31465460
Prostatic stromal proliferation of uncertain malignant potential	Associate	31465460