Retinaldehyde-binding protein 1

RLBP1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3HX3, 3HY5, 4CIZ, 4CJ6
Identifiers
Aliases	RLBP1, CRALBP, retinaldehyde binding protein 1
External IDs	MGI: 97930 HomoloGene: 68046 GeneCards: RLBP1
Gene ontology Molecular function • retinal binding • transporter activity • 11-cis retinal binding • retinol binding Cellular component • cytosol • cell body • cytoplasm • cellular component • intracellular Biological process • transport • retinoid metabolic process • response to stimulus • vitamin A metabolic process • visual perception Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	6017	19771
Ensembl	ENSG00000140522	ENSMUSG00000039194
UniProt	P12271	Q9Z275
RefSeq (mRNA)	NM_000326	NM_001173483 NM_020599
RefSeq (protein)	NP_000317.1	NP_001166954.1 NP_065624.1
Location (UCSC)	Chr 15: 89.21 – 89.22 Mb	Chr 7: 79.37 – 79.39 Mb
PubMed search	[1]	[2]
Wikidata

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Retinaldehyde-binding protein 1 is a protein that in humans is encoded by the RLBP1 gene.^[3][4][5]

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.^[5]

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. Sparkes RS, Heinzmann C, Goldflam S, Kojis T, Saari JC, Mohandas T, Klisak I, Bateman JB, Crabb JW (Mar 1992). "Assignment of the gene (RLBP1) for cellular retinaldehyde-binding protein (CRALBP) to human chromosome 15q26 and mouse chromosome 7". Genomics. 12 (1): 58–62. doi:10.1016/0888-7543(92)90406-I. PMID 1733864.
4. Maw MA, Kennedy B, Knight A, Bridges R, Roth KE, Mani EJ, Mukkadan JK, Nancarrow D, Crabb JW, Denton MJ (Nov 1997). "Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa". Nat Genet. 17 (2): 198–200. doi:10.1038/ng1097-198. PMID 9326942.
5. "Entrez Gene: RLBP1 retinaldehyde binding protein 1".

External links

• GeneReviews/NIH/NCBI/UW entry on Retinitis Pigmentosa Overview

Further reading

• Crabb JW, Goldflam S, Harris SE, Saari JC (1989). "Cloning of the cDNAs encoding the cellular retinaldehyde-binding protein from bovine and human retina and comparison of the protein structures.". J. Biol. Chem. 263 (35): 18688–92. PMID 3198595.
• Intres R, Goldflam S, Cook JR, Crabb JW (1994). "Molecular cloning and structural analysis of the human gene encoding cellular retinaldehyde-binding protein.". J. Biol. Chem. 269 (41): 25411–8. PMID 7929238.
• Dunn KC, Aotaki-Keen AE, Putkey FR, Hjelmeland LM (1996). "ARPE-19, a human retinal pigment epithelial cell line with differentiated properties.". Exp. Eye Res. 62 (2): 155–69. doi:10.1006/exer.1996.0020. PMID 8698076.
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• Sarthy V (1997). "Cellular retinaldehyde-binding protein localization in cornea.". Exp. Eye Res. 63 (6): 759–62. doi:10.1006/exer.1996.0170. PMID 9068383.
• Crabb JW, Carlson A, Chen Y, et al. (1998). "Structural and functional characterization of recombinant human cellular retinaldehyde-binding protein.". Protein Sci. 7 (3): 746–57. doi:10.1002/pro.5560070324. PMC 2143945. PMID 9541407.
• Burstedt MS, Sandgren O, Holmgren G, Forsman-Semb K (1999). "Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26.". Invest. Ophthalmol. Vis. Sci. 40 (5): 995–1000. PMID 10102298.
• Morimura H, Berson EL, Dryja TP (1999). "Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens.". Invest. Ophthalmol. Vis. Sci. 40 (5): 1000–4. PMID 10102299.
• Thumann G, Kociok N, Bartz-Schmidt KU, et al. (2000). "Detection of mRNA for proteins involved in retinol metabolism in iris pigment epithelium.". Graefes Arch. Clin. Exp. Ophthalmol. 237 (12): 1046–51. doi:10.1007/s004170050343. PMID 10654176.
• Burstedt MS, Forsman-Semb K, Golovleva I, et al. (2001). "Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene.". Arch. Ophthalmol. 119 (2): 260–7. PMID 11176989.
• Harrington JJ, Sherf B, Rundlett S, et al. (2001). "Creation of genome-wide protein expression libraries using random activation of gene expression.". Nat. Biotechnol. 19 (5): 440–5. doi:10.1038/88107. PMID 11329013.
• Katsanis N, Shroyer NF, Lewis RA, et al. (2001). "Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1.". Clin. Genet. 59 (6): 424–9. doi:10.1034/j.1399-0004.2001.590607.x. PMID 11453974.
• Eichers ER, Green JS, Stockton DW, et al. (2002). "Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.". Am. J. Hum. Genet. 70 (4): 955–64. doi:10.1086/339688. PMC 379124. PMID 11868161.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Golovleva I, Bhattacharya S, Wu Z, et al. (2003). "Disease-causing mutations in the cellular retinaldehyde binding protein tighten and abolish ligand interactions.". J. Biol. Chem. 278 (14): 12397–402. doi:10.1074/jbc.M207300200. PMID 12536144.
• Wu Z, Yang Y, Shaw N, et al. (2003). "Mapping the ligand binding pocket in the cellular retinaldehyde binding protein.". J. Biol. Chem. 278 (14): 12390–6. doi:10.1074/jbc.M212775200. PMID 12536149.
• Fishman GA, Roberts MF, Derlacki DJ, et al. (2004). "Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes.". Arch. Ophthalmol. 122 (1): 70–5. doi:10.1001/archopht.122.1.70. PMID 14718298.
• Nawrot M, West K, Huang J, et al. (2004). "Cellular retinaldehyde-binding protein interacts with ERM-binding phosphoprotein 50 in retinal pigment epithelium.". Invest. Ophthalmol. Vis. Sci. 45 (2): 393–401. doi:10.1167/iovs.03-0989. PMID 14744877.