Property Summary

NCBI Gene PubMed Count 28
PubMed Score 493.34
PubTator Score 220.02

Knowledge Summary

Patent

No data available

Gene RIF (12)

PMID Text
25766589 this report is the first to describe the retinal dystrophy in children caused by homozygous nonsense RBP3 mutations, highlighting the requirement for IRBP in normal eye development and visual function.
24963161 CMPK1 and RBP3 are associated with corneal curvature in Asian populations.
23882694 We found that most patients with macular telangiectasia-2 possess retinal autoantibodies, the most prevalent of which were directed against AGL, RBP3, and CK-B.
23486466 Secretory defect and cytotoxicity: the potential disease mechanisms for the retinitis pigmentosa (RP)-associated interphotoreceptor retinoid-binding protein (IRBP).
21613504 The mouse retina promotes cone dark adaptation eightfold faster than the retinal pigment epithelium. However, complete cone recovery requires both visual cycles.
21067480 It is likely that mutations in RGR, RBP3, and possibly RBP1 occur rarely in inherited retinal dystrophies.
21067480 Observational study of gene-disease association. (HuGE Navigator)
19823802 Underproduction of IRBP is an early event in the human diabetic retina and is associated with retinal neurodegeneration.
19193895 In interphotoreceptor retinoid-binding protein transgenic mice cone dysfunction appears to be caused by abnormal trafficking of cone opsins due to impaired delivery of all-transretinaldehyde chromophore without IRBP.
19074801 Mutations in RBP3 are an infrequent cause of autosomal recessive retinitis pigmentosa.
18266969 analysis of IRBP proteolysis is useful as a biomarker for uveitis
15713799 studies suggest that IRBP and S-Ag can initiate innate and, in sensitive individuals, adaptive immune response by attracting iDCs and T and B cells expressing CXCR3 and CXCR5

AA Sequence

MMREWVLLMSVLLCGLAGPTHLFQPSLVLDMAKVLLDNYCFPENLLGMQEAIQQAIKSHEILSISDPQTL      1 - 70
ASVLTAGVQSSLNDPRLVISYEPSTPEPPPQVPALTSLSEEELLAWLQRGLRHEVLEGNVGYLRVDSVPG     71 - 140
QEVLSMMGEFLVAHVWGNLMGTSALVLDLRHCTGGQVSGIPYIISYLHPGNTILHVDTIYNRPSNTTTEI    141 - 210
WTLPQVLGERYGADKDVVVLTSSQTRGVAEDIAHILKQMRRAIVVGERTGGGALDLRKLRIGESDFFFTV    211 - 280
PVSRSLGPLGGGSQTWEGSGVLPCVGTPAEQALEKALAILTLRSALPGVVHCLQEVLKDYYTLVDRVPTL    281 - 350
LQHLASMDFSTVVSEEDLVTKLNAGLQAASEDPRLLVRAIGPTETPSWPAPDAAAEDSPGVAPELPEDEA    351 - 420
IRQALVDSVFQVSVLPGNVGYLRFDSFADASVLGVLAPYVLRQVWEPLQDTEHLIMDLRHNPGGPSSAVP    421 - 490
LLLSYFQGPEAGPVHLFTTYDRRTNITQEHFSHMELPGPRYSTQRGVYLLTSHRTATAAEEFAFLMQSLG    491 - 560
WATLVGEITAGNLLHTRTVPLLDTPEGSLALTVPVLTFIDNHGEAWLGGGVVPDAIVLAEEALDKAQEVL    561 - 630
EFHQSLGALVEGTGHLLEAHYARPEVVGQTSALLRAKLAQGAYRTAVDLESLASQLTADLQEVSGDHRLL    631 - 700
VFHSPGELVVEEAPPPPPAVPSPEELTYLIEALFKTEVLPGQLGYLRFDAMAELETVKAVGPQLVRLVWQ    701 - 770
QLVDTAALVIDLRYNPGSYSTAIPLLCSYFFEAEPRQHLYSVFDRATSKVTEVWTLPQVAGQRYGSHKDL    771 - 840
YILMSHTSGSAAEAFAHTMQDLQRATVIGEPTAGGALSVGIYQVGSSPLYASMPTQMAMSATTGKAWDLA    841 - 910
GVEPDITVPMSEALSIAQDIVALRAKVPTVLQTAGKLVADNYASAELGAKMATKLSGLQSRYSRVTSEVA    911 - 980
LAEILGADLQMLSGDPHLKAAHIPENAKDRIPGIVPMQIPSPEVFEELIKFSFHTNVLEDNIGYLRFDMF    981 - 1050
GDGELLTQVSRLLVEHIWKKIMHTDAMIIDMRFNIGGPTSSIPILCSYFFDEGPPVLLDKIYSRPDDSVS   1051 - 1120
ELWTHAQVVGERYGSKKSMVILTSSVTAGTAEEFTYIMKRLGRALVIGEVTSGGCQPPQTYHVDDTNLYL   1121 - 1190
TIPTARSVGASDGSSWEGVGVTPHVVVPAEEALARAKEMLQHNQLRVKRSPGLQDHL                1191 - 1247
//

Text Mined References (30)

PMID Year Title
25766589 2015 Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.
24963161 2014 CMPK1 and RBP3 are associated with corneal curvature in Asian populations.
24769233 2014 Proteomic analysis of cerebrospinal fluid extracellular vesicles: a comprehensive dataset.
23882694 2013 Anti-retinal antibodies in patients with macular telangiectasia type 2.
23486466 2013 Secretory defect and cytotoxicity: the potential disease mechanisms for the retinitis pigmentosa (RP)-associated interphotoreceptor retinoid-binding protein (IRBP).
21697133 2011 Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.
21613504 2011 The mammalian cone visual cycle promotes rapid M/L-cone pigment regeneration independently of the interphotoreceptor retinoid-binding protein.
21067480 2010 Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations.
19823802 2009 Interphotoreceptor retinoid-binding protein (IRBP) is downregulated at early stages of diabetic retinopathy.
19193895 2009 The role of interphotoreceptor retinoid-binding protein on the translocation of visual retinoids and function of cone photoreceptors.
19074801 2009 A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa.
18266969 2008 Interphotoreceptor retinoid-binding protein as biomarker in systemic autoimmunity with eye inflictions.
17286855 2007 Mapping of transcription start sites of human retina expressed genes.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
15713799 2005 Autoantigens signal through chemokine receptors: uveitis antigens induce CXCR3- and CXCR5-expressing lymphocytes and immature dendritic cells to migrate.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11511084 2001 Hyperphosphorylation and association with RBP of the intracellular domain of Notch1.
11161734 2001 Interphotoreceptor retinoid-binding protein contains three retinoid binding sites.
8702792 1996 Docosahexaenoic acid modulates the interactions of the interphotoreceptor retinoid-binding protein with 11-cis-retinal.
3827838 1986 Interspecies conservation of structure of interphotoreceptor retinoid-binding protein. Similarities and differences as adjudged by peptide mapping and N-terminal sequencing.
3743780 1986 N-terminal sequence homologies in interstitial retinol-binding proteins from 10 vertebrate species.
3455009 1987 Human interstitial retinol-binding protein (IRBP): cloning, partial sequence, and chromosomal localization.
3170584 1988 Internal quadruplication in the structure of human interstitial retinol-binding protein deduced from its cloned cDNA.
2907505 1988 An extended genetic linkage map of markers for human chromosome 10.
2792773 1989 Cloning of cDNAs encoding human interphotoreceptor retinoid-binding protein (IRBP) and comparison with bovine IRBP sequences.
2542268 1989 Human interstitial retinoid-binding protein. Gene structure and primary structure.
2402443 1990 Hypomethylation of the interphotoreceptor retinoid-binding protein (IRBP) promotor and first exon is linked to expression of the gene.
2303470 1990 Characterization and comparative structural features of the gene for human interstitial retinol-binding protein.