Property Summary

NCBI Gene PubMed Count 28
Grant Count 41
R01 Count 24
Funding $5,521,307.68
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.
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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
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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.
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