InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RDH12

Summary

InnateDB Protein

IDBP-601629.3

Last Modified

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

Gene Symbol

RDH12

Protein Name

retinol dehydrogenase 12 (all-trans/9-cis/11-cis)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000449079

InnateDB Gene

IDBG-10044 (RDH12)

Protein Structure

UniProt Annotation

Function

Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity toward 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain aldehydes. No steroid dehydrogenase activity detected. Might be the key enzyme in the formation of 11-cis-retinal from 11-cis-retinol during regeneration of the cone visual pigments. {ECO:0000269PubMed:12226107}.

Subcellular Localization

Disease Associations

Leber congenital amaurosis 13 (LCA13) [MIM:612712]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269PubMed:15258582, ECO:0000269PubMed:15322982}. Note=The disease is caused by mutations affecting the gene represented in this entry.Retinitis pigmentosa 53 (RP53) [MIM:612712]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269PubMed:19140180, ECO:0000269PubMed:19956407}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed, mostly in eye, kidney, brain, skeletal muscle and stomach.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004745	retinol dehydrogenase activity
GO:0005515	protein binding
GO:0016491	oxidoreductase activity
GO:0050662	coenzyme binding

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:0045494	photoreceptor cell maintenance
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005622	intracellular
GO:0060342	photoreceptor inner segment membrane

Protein Structure and Domains

PDB ID

InterPro

IPR001509 NAD-dependent epimerase/dehydratase, N-terminal domain
IPR002198 Short-chain dehydrogenase/reductase SDR
IPR002347 Glucose/ribitol dehydrogenase
IPR013968 Polyketide synthase, KR

PFAM

PF01370
PF00106
PF08659

PRINTS

PR00080
PR00081

PIRSF

PIRSF000126

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt