Reference Gene

Gene name Alias Species Exons Type Paralogs EC number OMIM
RBP3 retinol binding protein 3 IRBP , RBPI , RP66 , D10S64 , D10S65 , D10S66 Homo sapiens 4 protein-coding 180290

Summary

Interphotoreceptor retinol-binding protein is a large glycoprotein known to bind retinoids and found primarily in the interphotoreceptor matrix of the retina between the retinal pigment epithelium and the photoreceptor cells. It is thought to transport retinoids between the retinal pigment epithelium and the photoreceptors, a critical role in the visual process.The human IRBP gene is approximately 9.5 kbp in length and consists of four exons separated by three introns. The introns are 1.6-1.9 kbp long. The gene is transcribed by photoreceptor and retinoblastoma cells into an approximately 4.3-kilobase mRNA that is translated and processed into a glycosylated protein of 135,000 Da. The amino acid sequence of human IRBP can be divided into four contiguous homology domains with 33-38% identity, suggesting a series of gene duplication events. In the gene, the boundaries of these domains are not defined by exon-intron junctions, as might have been expected. The first three homology domains and part of the fourth are all encoded by the first large exon, which is 3,180 base pairs long. The remainder of the fourth domain is encoded in the last three exons, which are 191, 143, and approximately 740 base pairs long, respectively. [provided by RefSeq, Jul 2008]

GeneOntology

Gene Loss events - RBP3 (9 results)

GL_ID Species Order Gene Loss Mechanism Loss Type Lineage Specific Citation
GL_7P9LSU Echinops telfairi Gene deletion Full No 10.1093/icb/icy004
GL_91J1QD Hipposideros armiger Chiroptera LOF (frameshift, premature stop, ss) Full No 10.1093/icb/icy004
GL_AZSF05 Nannospalax galili Rodentia LOF (frameshift, premature stop, ss) Full No 10.1093/icb/icy004
GL_CV5K8F Condylura cristata Eulipotyphla Gene deletion Full No 10.1093/icb/icy004
GL_GKXJCK Miniopterus natalensis Chiroptera LOF (frameshift, premature stop, ss) Full No 10.1093/icb/icy004
GL_NLFU6Q Dasypus novemcinctus Cingulata Gene deletion Full No 10.1093/icb/icy004
GL_TXQQEV Heterocephalus glaber Rodentia Gene deletion Full No 10.1093/icb/icy004
GL_X4WYKL Chrysochloris asiatica Afrosoricida Gene deletion Full No 10.1093/icb/icy004
GL_XIGPQY Fukomys damarensis Rodentia LOF (frameshift, premature stop, ss) Full No 10.1093/icb/icy004