Property Summary

NCBI Gene PubMed Count 43
PubMed Score 137.79
PubTator Score 102.79

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
group 3 medulloblastoma -1.100 3.8e-02

Gene RIF (25)

PMID Text
25429852 Different mutations in RLBP1 are correlated with quite different morphological and functional characteristics outlines the complexity of the protein.
24921169 RLBP1 gene is upregulated in patients with reactive retinal astrocytic tumors.
23929416 Patients with retinitis punctata albescens (RPA) show variable degrees of foveal cone death, even at an early stage. This finding has implications for future treatment.
22551409 The two RLBP1 genotypes presented a phenotypical and electrophysiological expression of progressive retinal disease similar to that previously described in homozygotes for the c.700C>T (p.R234W) RLBP1 mutation.
22183382 The R234W mutation reveals impaired 11-cis-retinal release through stabilization of the ligand complex.
22171637 The clinical characteristics of a Japanese patient with a homozygous R234W mutation in RLBP1 are very similar to that of Swedish patients with Bothnia dystrophy.
21904838 Identification of autoantibodies specific for two retinal antigens (CRALBP and S-Ag) supports the concept of an autoimmunological origin of the disease.
21447491 mutations in RLBP1 are responsible for fundus albipunctatus in the affected individuals of these consanguineous Pakistani families.
20801516 Observational study of genetic testing. (HuGE Navigator)
20696998 In the RLBP1-Bothnia dystrophy phenotype, a loss of function and thinning of the central macula are found, indicating early damage of the cone photoreceptors in this disease of the visual cycle.
20591486 Observational study of genetic testing. (HuGE Navigator)
19846785 These results reveal an unanticipated domino-like structural transition causing Bothnia-type retinal dystrophy by the impaired release of 11-cis-retinal from R234W.
19165527 Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia
18344446 Bothnia dystrophy is caused by the loss of CRALBP function due to changed physical features and impaired activity of retinoid binding.
18317528 The presence of CRALBP autoantibodies in 54% of tested uveitis patients supports CRALBP as a possible autoantigen in human autoimmune uveitis
17652763 CRALBP transcripts in retinal pigment epithelium cells contain a noncoding exon in addition to a newly described promoter and, by definition, an additional intron
17249612 analysis of CRALBP ligand and protein interactions
17065479 Because of the high density of Alu elements in RLBP1, a systematic search should be made for deletions in this gene when one or both alleles lack point mutations, in the case of RPA or flecked retinal dystrophy.
15953459 A novel mutation in RLBP1 gene was found in a Japanese patient with retinitis punctata albescens. Degenerative changes of the outer retina were detected by optical coherence tomography
15865448 Cellular retinaldehyde binding protein 1 (CRALBP) inhibits the reduction of 11-cis-retinal stronger than the oxidation of 11-cis-retinol, in accord with its higher affinity for 11-cis-retinal.
15234312 Only eight RLBP1 mutations have been reported to date, and here we describe two novel mutations.
14718298 Patients with a clinical presentation of RPA (retinitis punctata albescens) can have genetically different mutations.
12536149 Trp-165, Met-208, Met-222, Met-225, and Trp-244 are components of the CRALBP ligand binding cavity.
12536144 the M225K mutation abolishes and the R233W mutation tightens retinoid binding and both impair CRALBP function in the visual cycle as an 11-cis-retinol acceptor and as a substrate carrier.
11868161 Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1

AA Sequence

MSEGVGTFRMVPEEEQELRAQLEQLTTKDHGPVFGPCSQLPRHTLQKAKDELNEREETREEAVRELQEMV      1 - 70
QAQAASGEELAVAVAERVQEKDSGFFLRFIRARKFNVGRAYELLRGYVNFRLQYPELFDSLSPEAVRCTI     71 - 140
EAGYPGVLSSRDKYGRVVMLFNIENWQSQEITFDEILQAYCFILEKLLENEETQINGFCIIENFKGFTMQ    141 - 210
QAASLRTSDLRKMVDMLQDSFPARFKAIHFIHQPWYFTTTYNVVKPFLKSKLLERVFVHGDDLSGFYQEI    211 - 280
DENILPSDFGGTLPKYDGKAVAEQLFGPQAQAENTAF                                     281 - 317
//

Text Mined References (44)

PMID Year Title
25429852 2015 Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.
24921169 2014 Retinal reactive astrocytic tumor: gene expression profiling.
23929416 2013 Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1.
22551409 2013 Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations.
22183382 2012 Molecular clues to Bothnia-type retinal dystrophy.
22171637 2012 Clinical features of a Japanese case with Bothnia dystrophy.
21904838 2011 [Blind spot enlargement syndrome in acute zonal occult outer retinopathy with detection of autoantibodies against the retinal antigens CRALBP and S-Ag].
21447491 2011 Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20696998 2010 Central retinal findings in Bothnia dystrophy caused by RLBP1 sequence variation.
20591486 2010 Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
19846785 2009 Bothnia dystrophy is caused by domino-like rearrangements in cellular retinaldehyde-binding protein mutant R234W.
19165527 2009 Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.
18344446 2008 Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1.
18317528 2007 CRALBP is a highly prevalent autoantigen for human autoimmune uveitis.
17652763 2007 Identification of the RLBP1 gene promoter.
17286855 2007 Mapping of transcription start sites of human retina expressed genes.
17249612 2006 CRALBP ligand and protein interactions.
17065479 2006 Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.
15953459 2005 Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens.
15865448 2005 Biochemical properties of purified human retinol dehydrogenase 12 (RDH12): catalytic efficiency toward retinoids and C9 aldehydes and effects of cellular retinol-binding protein type I (CRBPI) and cellular retinaldehyde-binding protein (CRALBP) on the oxidation and reduction of retinoids.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15234312 2004 A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens.
14744877 2004 Cellular retinaldehyde-binding protein interacts with ERM-binding phosphoprotein 50 in retinal pigment epithelium.
14718298 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.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12536149 2003 Mapping the ligand binding pocket in the cellular retinaldehyde binding protein.
12536144 2003 Disease-causing mutations in the cellular retinaldehyde binding protein tighten and abolish ligand interactions.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11868161 2002 Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.
11453974 2001 Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1.
11329013 2001 Creation of genome-wide protein expression libraries using random activation of gene expression.
11176989 2001 Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene.
10654176 1999 Detection of mRNA for proteins involved in retinol metabolism in iris pigment epithelium.
10102299 1999 Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens.
10102298 1999 Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26.
9541407 1998 Structural and functional characterization of recombinant human cellular retinaldehyde-binding protein.
9326942 1997 Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa.
9068383 1996 Cellular retinaldehyde-binding protein localization in cornea.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8698076 1996 ARPE-19, a human retinal pigment epithelial cell line with differentiated properties.
7929238 1994 Molecular cloning and structural analysis of the human gene encoding cellular retinaldehyde-binding protein.
3198595 1988 Cloning of the cDNAs encoding the cellular retinaldehyde-binding protein from bovine and human retina and comparison of the protein structures.
1733864 1992 Assignment of the gene (RLBP1) for cellular retinaldehyde-binding protein (CRALBP) to human chromosome 15q26 and mouse chromosome 7.