Version 5.4
Homo sapiens Gene: RLBP1
Summary
InnateDB Gene IDBG-29100.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RLBP1
Gene Name retinaldehyde binding protein 1
Synonyms CRALBP
Species Homo sapiens
Ensembl Gene ENSG00000140522
Encoded Proteins
IDBP-29102
retinaldehyde binding protein 1
IDBP-745826
IDBP-747441
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:89209869-89221751
Strand Reverse strand
Band q26.1
Transcripts
ENST00000268125 ENSP00000268125
ENST00000563254 ENSP00000454740
ENST00000564388
ENST00000567787 ENSP00000457251
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
Cellular Component
GO:0005575 cellular_component
GO:0005829 cytosol
GO:0044297 cell body
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000039194
View Gene Order
ENSBTAG00000033721
Not yet available
Pathways
NETPATH
REACTOME
REACT_160083
The retinoid cycle in cones (daylight vision) pathway
REACT_160156
The canonical retinoid cycle in rods (twilight vision) pathway
REACT_160130
Retinoid cycle disease events pathway
REACT_111102
Signal Transduction pathway
REACT_160102
Diseases associated with visual transduction pathway
REACT_160125
Visual phototransduction pathway
REACT_116125
Disease pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.1933
RefSeq NM_000326
HUGO
OMIM
CCDS CCDS32324
HPRD 01572
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca