Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	340665
Gene name Gene Name - the full gene name approved by the HGNC.	Cytochrome P450 family 26 subfamily C member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CYP26C1
Synonyms (NCBI Gene) Gene synonyms aliases	FFDD4
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q23.33
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(31)

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

MIM	HGNC	e!Ensembl
608428	20577	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

Interactions

View interactions

	KEGG		Reactome
	Retinol metabolism Metabolic pathways		Vitamins RA biosynthesis pathway Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4)

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia-microphthalmia syndrome	N/A	N/A	ClinVar
optic nerve hypoplasia	Optic nerve hypoplasia	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (4)

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

CYP26C1 (cytochrome P450 family 26 subfamily C member 1)