InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RDH5

Summary

InnateDB Protein

IDBP-586377.3

Last Modified

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

Gene Symbol

RDH5

Protein Name

retinol dehydrogenase 5 (11-cis/9-cis)

Synonyms

9cRDH; HSD17B9; RDH1; SDR9C5;

Species

Homo sapiens

Ensembl Protein

ENSP00000447128

InnateDB Gene

IDBG-38950 (RDH5)

Protein Structure

UniProt Annotation

Function

Stereospecific 11-cis retinol dehydrogenase, which catalyzes the final step in the biosynthesis of 11-cis retinaldehyde, the universal chromophore of visual pigments. Also able to oxidize 9-cis-retinol and 13-cis-retinol, but not all- trans-retinol. Active in the presence of NAD as cofactor but not in the presence of NADP. {ECO:0000269PubMed:10588954, ECO:0000269PubMed:9115228}.

Subcellular Localization

Membrane {ECO:0000269PubMed:11675386}; Peripheral membrane protein {ECO:0000269PubMed:11675386}. Endoplasmic reticulum lumen {ECO:0000269PubMed:11675386}.

Disease Associations

Retinitis punctata albescens (RPA) [MIM:136880]: Rare form of stationary night blindness characterized by a delay in the regeneration of cone and rod photopigments. {ECO:0000269PubMed:10369264, ECO:0000269PubMed:10617778, ECO:0000269PubMed:11053295, ECO:0000269PubMed:11078852, ECO:0000269PubMed:11470705, ECO:0000269PubMed:12788147, ECO:0000269PubMed:12967826}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Abundant in the retinal pigment epithelium. Expressed at high levels in mammary tissue, kidney and testis, and at lower levels in liver, heart, adrenal gland, lung, pancreas and skeletal muscle. {ECO:0000269PubMed:9115228}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	1 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004745	retinol dehydrogenase activity
GO:0016491	oxidoreductase activity

Biological Process

GO:0001523	retinoid metabolic process
GO:0007601	visual perception
GO:0007603	phototransduction, visible light
GO:0008152	metabolic process
GO:0042572	retinol metabolic process
GO:0055114	oxidation-reduction process