Entity Details

Primary name RLBP1
Entity type gene
Source Source Link

Details

PrimaryID6017
RefseqGeneNG_008116
SymbolRLBP1
Nameretinaldehyde binding protein 1
Chromosome15
Location15q26.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-11
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsRLBP1_HUMAN

GO terms

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GOName
GO:0001523 retinoid metabolic process
GO:0005502 11-cis retinal binding
GO:0005654 nucleoplasm
GO:0005813 centrosome
GO:0005829 cytosol
GO:0006776 vitamin A metabolic process
GO:0007601 visual perception
GO:0019841 retinol binding
GO:0044297 cell body
GO:0050896 response to stimulus
GO:1902936 phosphatidylinositol bisphosphate binding

Diseases

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Disease IDSourceNameDescription
607476 OMIMRod-cone dystrophy Newfoundland (NFRCD)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. The disease is caused by variants affecting the gene represented in this entry.
136880 OMIMRetinitis punctata albescens (RPA)A form of fleck retina disease characterized by aggregation of white flecks posteriorly in the retina, causing night blindness and delayed dark adaptation. It differs from fundus albipunctatus in being progressive and evolving to generalized atrophy of the retina. The disease is caused by variants affecting the gene represented in this entry.
607475 OMIMBothnia retinal dystrophy (BRD)A type of retinitis punctata albescens. Affected individuals show night blindness from early childhood with features consistent with retinitis punctata albescens and macular degeneration. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
RLBP1KLHL8BioGRID, IntAct32296183 details
RLBP1RDH5BioGRID, HPRD12536149 details
RLBP1APPBioGRID21832049 details
RLBP1SLC9A3R1HPRD14744877 details