InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CYP26B1

Summary

InnateDB Protein

IDBP-594577.3

Last Modified

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

Gene Symbol

CYP26B1

Protein Name

cytochrome P450, family 26, subfamily B, polypeptide 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000443304

InnateDB Gene

IDBG-56115 (CYP26B1)

Protein Structure

UniProt Annotation

Function

Involved in the metabolism of retinoic acid (RA), rendering this classical morphogen inactive through oxidation. Involved in the specific inactivation of all-trans-retinoic acid (all-trans-RA), with a preference for the following substrates: all-trans-RA > 9-cis-RA > 13-cis-RA. Generates several hydroxylated forms of RA, including 4-OH-RA, 4-oxo-RA, and 18-OH- RA. Esential for postnatal survival. Plays a central role in germ cell development: acts by degrading RA in the developing testis, preventing STRA8 expression, thereby leading to delay of meiosis. Required for the maintenance of the undifferentiated state of male germ cells during embryonic development in Sertoli cells, inducing arrest in G0 phase of the cell cycle and preventing meiotic entry. Plays a role in skeletal development, both at the level of patterning and in the ossification of bone and the establishment of some synovial joints. {ECO:0000269PubMed:10823918, ECO:0000269PubMed:22019272}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Microsome membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.

Disease Associations

Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) [MIM:614416]: A disease characterized by craniofacial malformations, occipital encephalocele, radiohumeral fusions, oligodactyly, advanced osseous maturation, and calvarial mineralization defects. {ECO:0000269PubMed:22019272}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in brain, particularly in the cerebellum and pons. {ECO:0000269PubMed:10823918}.

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:0001709	cell fate determination
GO:0006766	vitamin metabolic process
GO:0006805	xenobiotic metabolic process
GO:0007140	male meiosis
GO:0007283	spermatogenesis
GO:0009954	proximal/distal pattern formation
GO:0030326	embryonic limb morphogenesis
GO:0034653	retinoic acid catabolic process
GO:0044281	small molecule metabolic process
GO:0048387	negative regulation of retinoic acid receptor signaling pathway
GO:0055114	oxidation-reduction process
GO:0060349	bone morphogenesis