GPR143 explained

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 . Human Mutation . 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 . Human Mutation . 19 . 2 . 85–92 . February 2002 . 11793467 . 10.1002/humu.10034 . 42778083 . free .
• Schnur RE, Trask BJ, van den Engh G, Punnett HH, Kistenmacher M, Tomeo MA, Naids RE, Nussbaum RL . 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 . American Journal of Human Genetics . 45 . 5 . 706–720 . November 1989 . 2573275 . 1683435 .
• Meindl A, Hosenfeld D, Brückl W, Schuffenhauer S, Jenderny J, Bacskulin A, Oppermann HC, Swensson O, Bouloux P, Meitinger T . Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism . Journal of Medical Genetics . 30 . 10 . 838–842 . October 1993 . 8230160 . 1016566 . 10.1136/jmg.30.10.838 .
• Schiaffino MV, Bassi MT, Galli L, Renieri A, Bruttini M, De Nigris F, Bergen AA, Charles SJ, Yates JR, Meindl A . Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism . Human Molecular Genetics . 4 . 12 . 2319–2325 . December 1995 . 8634705 . 10.1093/hmg/4.12.2319 .
• Schnur RE, Gao M, Wick PA, Keller M, Benke PJ, Edwards MJ, Grix AW, Hockey A, Jung JH, Kidd KK, Kistenmacher M, Levin AV, Lewis RA, Musarella MA, Nowakowski RW, Orlow SJ, Pagon RS, Pillers DA, Punnett HH, Quinn GE, Tezcan K, Wagstaff J, Weleber RG . OA1 mutations and deletions in X-linked ocular albinism . American Journal of Human Genetics . 62 . 4 . 800–809 . April 1998 . 9529334 . 1377018 . 10.1086/301776 .
• Rosenberg T, Schwartz M . X-linked ocular albinism: prevalence and mutations--a national study . European Journal of Human Genetics . 6 . 6 . 570–577 . 1999 . 9887374 . 10.1038/sj.ejhg.5200226 . free .
• d'Addio M, Pizzigoni A, Bassi MT, Baschirotto C, Valetti C, Incerti B, Clementi M, De Luca M, Ballabio A, Schiaffino MV . Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1 . Human Molecular Genetics . 9 . 20 . 3011–3018 . December 2000 . 11115845 . 10.1093/hmg/9.20.3011 .
• Bassi MT, Bergen AA, Bitoun P, Charles SJ, Clementi M, Gosselin R, Hurst J, Lewis RA, Lorenz B, Meitinger T, Messiaen L, Ramesar RS, Ballabio A, Schiaffino MV . Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America . Human Genetics . 108 . 1 . 51–54 . January 2001 . 11214907 . 10.1007/s004390000440 . 40983215 .
• Touloukian CE, Leitner WW, Schnur RE, Robbins PF, Li Y, Southwood S, Sette A, Rosenberg SA, Restifo NP . Normal tissue depresses while tumor tissue enhances human T cell responses in vivo to a novel self/tumor melanoma antigen, OA1 . Journal of Immunology . 170 . 3 . 1579–1585 . February 2003 . 12538723 . 2241741 . 10.4049/jimmunol.170.3.1579 .
• Basrur V, Yang F, Kushimoto T, Higashimoto Y, Yasumoto K, Valencia J, Muller J, Vieira WD, Watabe H, Shabanowitz J, Hearing VJ, Hunt DF, Appella E . Proteomic analysis of early melanosomes: identification of novel melanosomal proteins . Journal of Proteome Research . 2 . 1 . 69–79 . 2003 . 12643545 . 10.1021/pr025562r .
• Camand O, Boutboul S, Arbogast L, Roche O, Sternberg C, Sutherland J, Levin A, Héon E, Menasche M, Dufier J, Abitbol M . Mutational analysis of the OA1 gene in ocular albinism . Ophthalmic Genetics . 24 . 3 . 167–173 . September 2003 . 12868035 . 10.1076/opge.24.3.167.15605 . 23456064 .
• Mayeur H, Roche O, Vêtu C, Jaliffa C, Marchant D, Dollfus H, Bonneau D, Munier FL, Schorderet DF, Levin AV, Héon E, Sutherland J, Lacombe D, Said E, Mezer E, Kaplan J, Dufier JL, Marsac C, Menasche M, Abitbol M . Eight previously unidentified mutations found in the OA1 ocular albinism gene . BMC Medical Genetics . 7 . 41 . April 2006 . 16646960 . 1468396 . 10.1186/1471-2350-7-41 . free .
• Sallmann GB, Bray PJ, Rogers S, Quince A, Cotton RG, Carden SM . Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC . Ophthalmic Genetics . 27 . 2 . 43–49 . June 2006 . 16754205 . 10.1080/13816810600677834 . 41887499 .
• Chi A, Valencia JC, Hu ZZ, Watabe H, Yamaguchi H, Mangini NJ, Huang H, Canfield VA, Cheng KC, Yang F, Abe R, Yamagishi S, Shabanowitz J, Hearing VJ, Wu C, Appella E, Hunt DF . Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes . Journal of Proteome Research . 5 . 11 . 3135–3144 . November 2006 . 17081065 . 10.1021/pr060363j .

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 I, Bagnato P, Palmigiano A, Innamorati G, Rotondo G, Altimare D, Venturi C, Sviderskaya EV, Piccirillo R, Coppola M, Marigo V, Incerti B, Ballabio A, Surace EM, Tacchetti C, Bennett DC, Schiaffino MV . 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 . November 2008 . 18697795 . 2572695 . 10.1093/hmg/ddn241 .
3. Innamorati G, Piccirillo R, Bagnato P, Palmisano I, Schiaffino MV . The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor . Pigment Cell Research . 19 . 2 . 125–135 . April 2006 . 16524428 . 1459912 . 10.1111/j.1600-0749.2006.00292.x .
4. Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A . Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome . Nature Genetics . 10 . 1 . 13–19 . May 1995 . 7647783 . 10.1038/ng0595-13 . 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 . Ocular albinism: evidence for a defect in an intracellular signal transduction system . Nature Genetics . 23 . 1 . 108–112 . September 1999 . 10471510 . 10.1038/12715 . 6604295 .
6. 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 . Ocular albinism: evidence for a defect in an intracellular signal transduction system . Nature Genetics . 23 . 1 . 108–112 . September 1999 . 10471510 . 10.1038/12715 . 6604295 .
7. Vetrini F, Auricchio A, Du J, Angeletti B, Fisher DE, Ballabio A, Marigo V . The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis . Molecular and Cellular Biology . 24 . 15 . 6550–6559 . August 2004 . 15254223 . 444869 . 10.1128/MCB.24.15.6550-6559.2004 .
8. Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E . Novel MITF targets identified using a two-step DNA microarray strategy . Pigment Cell & Melanoma Research . 21 . 6 . 665–676 . December 2008 . 19067971 . 10.1111/j.1755-148X.2008.00505.x . 24698373 . free .
9. Lopez VM, Decatur CL, Stamer WD, Lynch RM, McKay BS . L-DOPA is an endogenous ligand for OA1 . PLOS Biology . 6 . 9 . e236 . September 2008 . 18828673 . 2553842 . 10.1371/journal.pbio.0060236 . Barsh . free . Gregory S .