GPR143 explained

Symbol:	Ocular_alb
Ocular albinism type 1 protein
Pfam:	PF02101
Pfam Clan:	CL0192
Interpro:	IPR001414

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.^{[1] [2] [3]} This protein encoded by the GPR143 gene,^{[4] [5]} whose variants can lead to Ocular albinism type 1.^[6]

The GPR143 gene is regulated by the Microphthalmia-associated transcription factor.^{[7] [8]}

L-DOPA is an endogenous ligand for OA1.^[9]

Interactions

GPR143 has been shown to interact with GNAI1.

Further reading

• Oetting WS, King RA . Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. . Hum. Mutat. . 13 . 2 . 99–115 . 1999 . 10094567 . 10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C . 27315644 . free .
• Oetting WS . New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. . Hum. Mutat. . 19 . 2 . 85–92 . 2002 . 11793467 . 10.1002/humu.10034 . 42778083 . free .
• Schnur RE, Trask BJ, van den Engh G . 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 . 1989 . 2573275 . 1683435 . etal.
• Meindl A, Hosenfeld D, Brückl W . 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 . 1993 . 8230160 . 10.1136/jmg.30.10.838 . 1016566 . etal.
• Schiaffino MV, Bassi MT, Galli L . 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 . 1996 . 8634705 . 10.1093/hmg/4.12.2319 . etal.
• Schnur RE, Gao M, Wick PA . OA1 mutations and deletions in X-linked ocular albinism. . Am. J. Hum. Genet. . 62 . 4 . 800–9 . 1998 . 9529334 . 10.1086/301776 . 1377018 . etal.
• Rosenberg T, Schwartz M . X-linked ocular albinism: prevalence and mutations--a national study. . Eur. J. Hum. Genet. . 6 . 6 . 570–7 . 1999 . 9887374 . 10.1038/sj.ejhg.5200226 . free .
• d'Addio M, Pizzigoni A, Bassi MT . Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. . Hum. Mol. Genet. . 9 . 20 . 3011–8 . 2001 . 11115845 . 10.1093/hmg/9.20.3011 . etal.
• Bassi MT, Bergen AA, Bitoun P . 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 . 2001 . 11214907 . 10.1007/s004390000440 . 40983215 . etal.
• Strausberg RL, Feingold EA, Grouse LH . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Touloukian CE, Leitner WW, Schnur RE . 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 . 2003 . 12538723 . 10.4049/jimmunol.170.3.1579. 2241741 . etal.
• Basrur V, Yang F, Kushimoto T . Proteomic analysis of early melanosomes: identification of novel melanosomal proteins. . J. Proteome Res. . 2 . 1 . 69–79 . 2003 . 12643545 . 10.1021/pr025562r . etal.
• Camand O, Boutboul S, Arbogast L . Mutational analysis of the OA1 gene in ocular albinism. . Ophthalmic Genet. . 24 . 3 . 167–73 . 2003 . 12868035 . 10.1076/opge.24.3.167.15605 . 23456064 . etal.
• Mayeur H, Roche O, Vêtu C . Eight previously unidentified mutations found in the OA1 ocular albinism gene. . BMC Med. Genet. . 7. 41 . 2006 . 16646960 . 10.1186/1471-2350-7-41 . 1468396 . etal . free .
• Sallmann GB, Bray PJ, Rogers S . Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC. . Ophthalmic Genet. . 27 . 2 . 43–9 . 2006 . 16754205 . 10.1080/13816810600677834 . 41887499 . etal.
• Chi A, Valencia JC, Hu ZZ . Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. . J. Proteome Res. . 5 . 11 . 3135–44 . 2007 . 17081065 . 10.1021/pr060363j . etal.

External links

• GeneReviews/NCBI/NIH/UW entry on Ocular Albinism, X-Linked

Notes and References

1. Web site: Entrez Gene: GPR143 G protein-coupled receptor 143 .
2. Palmisano . Ilaria . Bagnato . Paola . Palmigiano . Angela . Innamorati . Giulio . Rotondo . Giuseppe . Altimare . Domenico . Venturi . Consuelo . Sviderskaya . Elena V . Piccirillo . Rosanna . Coppola . Massimiliano . Marigo . Valeria . Incerti . Barbara . Ballabio . Andrea . Surace . Enrico M . Tacchetti . Carlo . 2008-11-01 . The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells . Human Molecular Genetics . 17 . 22 . 3487–3501 . 10.1093/hmg/ddn241 . 1460-2083 . 2572695 . 18697795.
3. Innamorati . Giulio . Piccirillo . Rosanna . Bagnato . Paola . Palmisano . Ilaria . Schiaffino . Maria Vittoria . 2006-04-01 . The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor . Pigment Cell Research . 19 . 2 . 125–135 . 10.1111/j.1600-0749.2006.00292.x . 1600-0749 . 1459912 . 16524428.
4. Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A . Sep 1995 . Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome . Nat Genet . 10 . 1 . 13–9 . 10.1038/ng0595-13 . 7647783 . 205342065.
5. Schiaffino MV, d'Addio M, Alloni A, Baschirotto C, Valetti C, Cortese K, Puri C, Bassi MT, Colla C, De Luca M, Tacchetti C, Ballabio A . Sep 1999 . Ocular albinism: evidence for a defect in an intracellular signal transduction system . Nat Genet . 23 . 1 . 108–12 . 10.1038/12715 . 10471510 . 6604295.
6. Schiaffino . M V . d'Addio . M . Alloni . A . Baschirotto . C . Valetti . C . Cortese . K . Puri . C . Bassi . M T . Colla . C . De Luca . M . Tacchetti . C . Ballabio . A . 1999-09-01 . Ocular albinism: evidence for a defect in an intracellular signal transduction system . Nature Genetics . 23 . 1 . 108–112 . 10.1038/12715 . 1546-1718 . 10471510. 6604295 .
7. Vetrini F, Auricchio A, Du J . The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis . Mol. Cell. Biol. . 24 . 15 . 6550–9 . 2004 . 15254223 . 10.1128/MCB.24.15.6550-6559.2004 . 444869 . etal.
8. Hoek KS, Schlegel NC, Eichhoff OM . Novel MITF targets identified using a two-step DNA microarray strategy . Pigment Cell Melanoma Res. . 21 . 6 . 665–76 . 2008 . 19067971. 10.1111/j.1755-148X.2008.00505.x . 24698373 . etal. free .
9. Lopez VM, Decatur CL, Stamer WD, Lynch RM, McKay BS . Barsh . Gregory S . L-DOPA is an endogenous ligand for OA1 . PLOS Biol. . 6 . 9 . e236 . September 2008 . 18828673 . 2553842 . 10.1371/journal.pbio.0060236 . free .