InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RLBP1

Summary

InnateDB Protein

IDBP-29102.5

Last Modified

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

Gene Symbol

RLBP1

Protein Name

retinaldehyde binding protein 1

Synonyms

CRALBP;

Species

Homo sapiens

Ensembl Protein

ENSP00000268125

InnateDB Gene

IDBG-29100 (RLBP1)

Protein Structure

UniProt Annotation

Function

Soluble retinoid carrier essential the proper function of both rod and cone photoreceptors. Participates in the regeneration of active 11-cis-retinol and 11-cis-retinaldehyde, from the inactive 11-trans products of the rhodopsin photocycle and in the de novo synthesis of these retinoids from 11-trans metabolic precursors. The cycling of retinoids between photoreceptor and adjacent pigment epithelium cells is known as the 'visual cycle'. {ECO:0000269PubMed:19846785}.

Subcellular Localization

Cytoplasm.

Disease Associations

Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]: 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:9326942}. Note=The disease is caused by mutations affecting the gene represented in this entry.Bothnia retinal dystrophy (BRD) [MIM:607475]: A type of retinitis punctata albescens. Affected individuals show night blindness from early childhood with features consistent with retinitis punctata albescens and macular degeneration. {ECO:0000269PubMed:10102298}. Note=The disease is caused by mutations affecting the gene represented in this entry.Rod-cone dystrophy Newfoundland (NFRCD) [MIM:607476]: A rod-cone dystrophy reminiscent of retinitis punctata albescens but with a substantially lower age at onset and more-rapid and distinctive progression. Rod-cone dystrophies results from initial loss of rod photoreceptors, later followed by cone photoreceptors loss. {ECO:0000269PubMed:11868161}. Note=The disease is caused by mutations affecting the gene represented in this entry.Retinitis punctata albescens (RPA) [MIM:136880]: Rare form of stationary night blindness characterized by a delay in the regeneration of cone and rod photopigments. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Retina and pineal gland. Not present in photoreceptor cells but is expressed abundantly in the adjacent retinal pigment epithelium (RPE) and in the Mueller glial cells of the retina. {ECO:0000269PubMed:19846785}.

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	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005215	transporter activity
GO:0005502	11-cis retinal binding
GO:0019841	retinol binding

Biological Process

GO:0001523	retinoid metabolic process
GO:0006776	vitamin A metabolic process
GO:0006810	transport
GO:0007601	visual perception
GO:0007603	phototransduction, visible light