GPR143
| GPR143 | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process |
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| Sources:Amigo / QuickGO | |||
Ensembl |
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| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | n/a | Chr X: 151.56 – 151.59 Mb | |||||||
| PubMed search | [2] | [3] | |||||||
| View/Edit Human | View/Edit Mouse |
| Ocular albinism type 1 protein | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||
| Symbol | Ocular_alb | ||||||||
| Pfam | PF02101 | ||||||||
| Pfam clan | CL0192 | ||||||||
| InterPro | IPR001414 | ||||||||
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G-protein coupled receptor 143, also known as Ocular albinism type 1 (OA1) in humans, is a conserved integral membrane protein with seven transmembrane domains and similarities with G protein-coupled receptors (GPCRs) that is expressed in the eye and epidermal melanocytes.[4][5][6] This protein encoded by the GPR143 gene,[7][8] whose variants can lead to Ocular albinism type 1.[9]
The GPR143 gene is regulated by the Microphthalmia-associated transcription factor.[10][11]
L-DOPA is an endogenous ligand for OA1.[12]
Interactions
GPR143 has been shown to
References
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025333 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: GPR143 G protein-coupled receptor 143".
- PMID 18697795.
- PMID 16524428.
- S2CID 205342065.
- ^ S2CID 6604295.
- S2CID 6604295.
- PMID 15254223.
- S2CID 24698373.
- PMID 18828673.
Further reading
- Oetting WS, King RA (1999). "Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism". Hum. Mutat. 13 (2): 99–115. S2CID 27315644.
- Oetting WS (2002). "New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene". Hum. Mutat. 19 (2): 85–92. S2CID 42778083.
- Schnur RE, Trask BJ, van den Engh G, et al. (1989). "An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry". Am. J. Hum. Genet. 45 (5): 706–20. PMID 2573275.
- Meindl A, Hosenfeld D, Brückl W, et al. (1993). "Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism". J. Med. Genet. 30 (10): 838–42. PMID 8230160.
- Schiaffino MV, Bassi MT, Galli L, et al. (1996). "Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism". Hum. Mol. Genet. 4 (12): 2319–25. PMID 8634705.
- Schnur RE, Gao M, Wick PA, et al. (1998). "OA1 mutations and deletions in X-linked ocular albinism". Am. J. Hum. Genet. 62 (4): 800–9. PMID 9529334.
- Rosenberg T, Schwartz M (1999). "X-linked ocular albinism: prevalence and mutations--a national study". Eur. J. Hum. Genet. 6 (6): 570–7. PMID 9887374.
- d'Addio M, Pizzigoni A, Bassi MT, et al. (2001). "Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1". Hum. Mol. Genet. 9 (20): 3011–8. PMID 11115845.
- Bassi MT, Bergen AA, Bitoun P, et al. (2001). "Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America". Hum. Genet. 108 (1): 51–4. S2CID 40983215.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMID 12477932.
- Touloukian CE, Leitner WW, Schnur RE, et al. (2003). "Normal tissue depresses while tumor tissue enhances human T cell responses in vivo to a novel self/tumor melanoma antigen, OA1". J. Immunol. 170 (3): 1579–85. PMID 12538723.
- Basrur V, Yang F, Kushimoto T, et al. (2003). "Proteomic analysis of early melanosomes: identification of novel melanosomal proteins". J. Proteome Res. 2 (1): 69–79. PMID 12643545.
- Camand O, Boutboul S, Arbogast L, et al. (2003). "Mutational analysis of the OA1 gene in ocular albinism". Ophthalmic Genet. 24 (3): 167–73. S2CID 23456064.
- Mayeur H, Roche O, Vêtu C, et al. (2006). "Eight previously unidentified mutations found in the OA1 ocular albinism gene". BMC Med. Genet. 7: 41. PMID 16646960.
- Sallmann GB, Bray PJ, Rogers S, et al. (2006). "Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC". Ophthalmic Genet. 27 (2): 43–9. S2CID 41887499.
- Chi A, Valencia JC, Hu ZZ, et al. (2007). "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes". J. Proteome Res. 5 (11): 3135–44. PMID 17081065.