RLBP1

From Wikipedia, the free encyclopedia

Retinaldehyde binding protein 1

Identifiers

RLBP1; CRALBP; MGC3663

External IDs

OMIM: 180090 MGI: 97930 HomoloGene: 68046

Gene ontology
Molecular Function:	• transporter activity • binding • 11-cis retinal binding • retinol binding
Cellular Component:	• intracellular • soluble fraction
Biological Process:	• vitamin A metabolic process • transport • visual perception • response to stimulus

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000326 (mRNA)
NP_000317 (protein)

XM_977995 (mRNA)
XP_983089 (protein)

Location

Chr 15: 87.55 - 87.57 Mb

Chr 7: 79.25 - 79.26 Mb

Pubmed search

[1]

[2]

Retinaldehyde binding protein 1, also known as RLBP1, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: RLBP1 retinaldehyde binding protein 1.

[edit] Further reading

Sparkes RS, Heinzmann C, Goldflam S, et al. (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. PMID 1733864.
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. 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.
Maw MA, Kennedy B, Knight A, et al. (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.
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. 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. 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. 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. 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. 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. PMID 14744877.