ArticleProceedings of the National Academy of Sciences of the United States of America1996
The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
40 citing papers in PubMed, 91 citations in OpenAlex.
- GPR143, a novel immunohistochemical marker for renal tumors with FLCN/TSC/MTOR-TFE alterations.Virchows Archiv : an international journal of pathology · 2026Article
- Pigmentation Pattern of Iris and Fundus in 75 Chinese Families With GPR143-Associated Ocular Albinism.Investigative ophthalmology & visual science · 2025Article
- Decreased CREB phosphorylation impairs embryonic retinal neurogenesis in thebioRxiv : the preprint server for biology · 2024Article
- A Comprehensive Review of Mammalian Pigmentation: Paving the Way for Innovative Hair Colour-Changing Cosmetics.Biology · 2023Review
- Decoding Race and Age-Related Macular Degeneration: GPR 143 Activity Is the Key.Advances in experimental medicine and biology · 2023Article
- CRISPR-AsCas12a Efficiently Corrects aThe CRISPR journal · 2022Article
- Melanosome Biogenesis in the Pigmentation of Mammalian Skin.Integrative and comparative biology · 2021Review
- Review
- Ocular Albinism Type 1 Regulates Deltamethrin Tolerance inFrontiers in physiology · 2019Article
- GPCR signalling from within the cell.British journal of pharmacology · 2018Review
- Article
- Comment on "Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism".Investigative ophthalmology & visual science · 2017Article
- Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism.Scientific reports · 2017Article
- Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1.The Journal of investigative dermatology · 2017Article
- Ocular Albinism Type 1 Regulates Melanogenesis in Mouse Melanocytes.International journal of molecular sciences · 2016Article
- Functional Characterization of the Odorant Receptor 51E2 in Human Melanocytes.The Journal of biological chemistry · 2016Article
- Macular optical coherence tomography findings and GPR143 mutations in patients with ocular albinism.International ophthalmology · 2014Observational
- Chaperoning G protein-coupled receptors: from cell biology to therapeutics.Endocrine reviews · 2014Review
- Expression of OA1 limits the fusion of a subset of MVBs with lysosomes - a mechanism potentially involved in the initial biogenesis of melanosomes.Journal of cell science · 2013Article
- A constitutively active Gαi3 protein corrects the abnormal retinal pigment epithelium phenotype of Oa1-/- mice.PloS one · 2013Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Ocular albinism type 1 (OA1) is an inherited disorder characterized by severe reduction of visual acuity, photophobia, and retinal hypopigmentation. Ultrastructural examination of skin melanocytes and of the retinal pigment epithelium reveals the presence of macromelanosomes, suggesting a defect in melanosome biogenesis. The gene responsible for OA1 is exclusively expressed in pigment cells and encodes a predicted protein of 404 aa displaying several putative transmembrane domains and sharing no similarities with previously identified molecules. Using polyclonal antibodies we have identified the endogenous OA1 protein in retinal pigment epithelial cells, in normal human melanocytes and in various melanoma cell lines. Two forms of the OA1 protein were identified by Western analysis, a 60-kDa glycoprotein and a doublet of 48 and 45 kDa probably corresponding to unglycosylated precursor polypeptides. Upon subcellular fractionation and phase separation with the nonionic detergent Triton X-114, the OA1 protein segregated into the melanosome-rich fraction and behaved as an authentic integral membrane protein. Immunofluorescence and immunogold analyses on normal human melanocytes confirmed the melanosomal membrane localization of the endogenous OA1 protein, consistent with its possible involvement in melanosome biogenesis. The identification of a novel melanosomal membrane protein involved in a human disease will provide insights into the mechanisms that control the cell-specific pathways of subcellular morphogenesis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.