InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CYP26C1

Summary

InnateDB Protein

IDBP-82644.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CYP26C1

Protein Name

cytochrome P450, family 26, subfamily C, polypeptide 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000285949

InnateDB Gene

IDBG-82642 (CYP26C1)

Protein Structure

UniProt Annotation

Function

Plays a role in retinoic acid metabolism. Acts on retinoids, including all-trans-retinoic acid (RA) and its stereoisomer 9-cis-RA (preferred substrate).

Subcellular Localization

Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.

Disease Associations

Focal facial dermal dysplasia 4 (FFDD4) [MIM:614974]: A form of focal facial dermal dysplasia, a group of developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. Skin defects occur at the sites of facial fusion during embryogenesis, with temporal lesions situated at the junction between the frontonasal and maxillary facial prominences, and preauricular lesions at the meeting point of the maxillary and mandibular prominences. The ectodermal lesions show consistent histologic abnormalities: atrophy and flattening of the epidermis, replacement of the dermis by loose connective tissue, reduced levels of fragmented elastic tissue and absence of the subcutaneous tissues and adnexal structures. FFDD4 is characterized by isolated, preauricular skin lesions. {ECO:0000269PubMed:23161670}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Detected in most tissues at very low level. {ECO:0000269PubMed:14532297}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001972	retinoic acid binding
GO:0005506	iron ion binding
GO:0008401	retinoic acid 4-hydroxylase activity
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0020037	heme binding

Biological Process

GO:0006766	vitamin metabolic process
GO:0006805	xenobiotic metabolic process
GO:0007417	central nervous system development
GO:0009952	anterior/posterior pattern specification
GO:0014032	neural crest cell development
GO:0034653	retinoic acid catabolic process
GO:0044281	small molecule metabolic process
GO:0048284	organelle fusion
GO:0048387	negative regulation of retinoic acid receptor signaling pathway
GO:0055114	oxidation-reduction process