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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Focal facial dermal dysplasia type IV	Likely pathogenic	rs929909433	RCV003990361	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmia-microphthalmia syndrome	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYP26C1-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL FACIAL DERMAL DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL FACIAL DERMAL DYSPLASIA 4	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL FACIAL DERMAL DYSPLASIAS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic nerve hypoplasia	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	18050373		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	30561078		★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	34681016	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	29263414		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	29706635		★☆☆☆☆ Found in Text Mining only
Focal facial dermal dysplasia	Focal Facial Dermal Dysplasia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL FACIAL DERMAL DYSPLASIA 4	Focal Facial Dermal Dysplasia	ORPHANET_DG	23161670		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal facial dermal dysplasia type IV	Focal Facial Dermal Dysplasia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemangioma	Hemangioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	19703508		★☆☆☆☆ Found in Text Mining only