GPR143

GPR143
Identifiers
Aliases	GPR143 , NYS6, OA1, G protein-coupled receptor 143
External IDs	OMIM: 300808; MGI: 107193; HomoloGene: 230; GeneCards: GPR143; OMA:GPR143 - orthologs
Gene location (Mouse) Chr. X chromosome (mouse) [1] Band X F3|X 68.46 cM Start 151,564,917 bp [1] End 151,591,642 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in oocyte secondary oocyte retinal pigment epithelium caudate nucleus nucleus accumbens putamen cingulate gyrus amygdala skin of abdomen Brodmann area 9 Top expressed in iris retinal pigment epithelium hair follicle ciliary body embryo stria vascularis embryo morula endothelial cell of lymphatic vessel primary oocyte More reference expression data BioGPS More reference expression data
Gene ontology Molecular function L-DOPA binding G protein-coupled receptor activity signal transducer activity dopamine binding tyrosine binding protein binding L-DOPA receptor activity Cellular component cytoplasm integral component of membrane Golgi apparatus membrane melanosome melanosome membrane lysosomal membrane apical plasma membrane lysosome plasma membrane Biological process eye pigment biosynthetic process regulation of melanosome transport melanosome localization melanosome organization melanosome transport regulation of calcium-mediated signaling regulation of melanosome organization calcium-mediated signaling using intracellular calcium source phosphatidylinositol-mediated signaling signal transduction visual perception neuropeptide signaling pathway G protein-coupled receptor signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4935 18241 Ensembl n/a ENSMUSG00000025333 UniProt P51810 P70259 RefSeq (mRNA) NM_000273 NM_010951 RefSeq (protein) NP_000264 NP_035081 Location (UCSC) n/a Chr X: 151.56 – 151.59 Mb PubMed search [2] [3]
Wikidata
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Ocular albinism type 1 protein
Identifiers
Symbol	Ocular_alb
Pfam	PF02101
Pfam clan	CL0192
InterPro	IPR001414
Available protein structures: Pfam   structures / ECOD   PDB RCSB PDB; PDBe; PDBj PDBsum structure summary

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 interact with GNAI1. ^[8]

References

1. GRCm38: Ensembl release 89: ENSMUSG00000025333 – Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Entrez Gene: GPR143 G protein-coupled receptor 143".
5. Palmisano I, Bagnato P, Palmigiano A, Innamorati G, Rotondo G, Altimare D, et al. (November 2008). "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. doi:10.1093/hmg/ddn241. PMC   2572695 . PMID   18697795.
6. Innamorati G, Piccirillo R, Bagnato P, Palmisano I, Schiaffino MV (April 2006). "The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor". Pigment Cell Research. 19 (2): 125–135. doi:10.1111/j.1600-0749.2006.00292.x. PMC   1459912 . PMID   16524428.
7. Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, et al. (May 1995). "Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome". Nature Genetics. 10 (1): 13–19. doi:10.1038/ng0595-13. PMID   7647783. S2CID   205342065.
8. Schiaffino MV, d'Addio M, Alloni A, Baschirotto C, Valetti C, Cortese K, et al. (September 1999). "Ocular albinism: evidence for a defect in an intracellular signal transduction system". Nature Genetics. 23 (1): 108–112. doi:10.1038/12715. PMID   10471510. S2CID   6604295.
9. Schiaffino MV, d'Addio M, Alloni A, Baschirotto C, Valetti C, Cortese K, et al. (September 1999). "Ocular albinism: evidence for a defect in an intracellular signal transduction system". Nature Genetics. 23 (1): 108–112. doi:10.1038/12715. PMID   10471510. S2CID   6604295.
10. Vetrini F, Auricchio A, Du J, Angeletti B, Fisher DE, Ballabio A, et al. (August 2004). "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. doi:10.1128/MCB.24.15.6550-6559.2004. PMC   444869 . PMID   15254223.
11. Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, et al. (December 2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell & Melanoma Research. 21 (6): 665–676. doi: 10.1111/j.1755-148X.2008.00505.x . PMID   19067971. S2CID   24698373.
12. Lopez VM, Decatur CL, Stamer WD, Lynch RM, McKay BS (September 2008). Barsh GS (ed.). "L-DOPA is an endogenous ligand for OA1". PLOS Biology. 6 (9): e236. doi: 10.1371/journal.pbio.0060236 . PMC   2553842 . PMID   18828673.

Further reading

• Oetting WS, King RA (1999). "Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism". Human Mutation. 13 (2): 99–115. doi: 10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C . PMID   10094567. S2CID   27315644.
• Oetting WS (February 2002). "New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene". Human Mutation. 19 (2): 85–92. doi: 10.1002/humu.10034 . PMID   11793467. S2CID   42778083.
• Schnur RE, Trask BJ, van den Engh G, Punnett HH, Kistenmacher M, Tomeo MA, et al. (November 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". American Journal of Human Genetics. 45 (5): 706–720. PMC   1683435 . PMID   2573275.
• Meindl A, Hosenfeld D, Brückl W, Schuffenhauer S, Jenderny J, Bacskulin A, et al. (October 1993). "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. doi:10.1136/jmg.30.10.838. PMC   1016566 . PMID   8230160.
• Schiaffino MV, Bassi MT, Galli L, Renieri A, Bruttini M, De Nigris F, et al. (December 1995). "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. doi:10.1093/hmg/4.12.2319. PMID   8634705.
• Schnur RE, Gao M, Wick PA, Keller M, Benke PJ, Edwards MJ, et al. (April 1998). "OA1 mutations and deletions in X-linked ocular albinism". American Journal of Human Genetics. 62 (4): 800–809. doi:10.1086/301776. PMC   1377018 . PMID   9529334.
• Rosenberg T, Schwartz M (1999). "X-linked ocular albinism: prevalence and mutations--a national study". European Journal of Human Genetics. 6 (6): 570–577. doi: 10.1038/sj.ejhg.5200226 . PMID   9887374.
• d'Addio M, Pizzigoni A, Bassi MT, Baschirotto C, Valetti C, Incerti B, et al. (December 2000). "Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1". Human Molecular Genetics. 9 (20): 3011–3018. doi:10.1093/hmg/9.20.3011. hdl: 11380/1070510 . PMID   11115845.
• Bassi MT, Bergen AA, Bitoun P, Charles SJ, Clementi M, Gosselin R, et al. (January 2001). "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. doi:10.1007/s004390000440. PMID   11214907. S2CID   40983215.
• Touloukian CE, Leitner WW, Schnur RE, Robbins PF, Li Y, Southwood S, et al. (February 2003). "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. doi:10.4049/jimmunol.170.3.1579. PMC   2241741 . PMID   12538723.
• Basrur V, Yang F, Kushimoto T, Higashimoto Y, Yasumoto K, Valencia J, et al. (2003). "Proteomic analysis of early melanosomes: identification of novel melanosomal proteins". Journal of Proteome Research. 2 (1): 69–79. doi:10.1021/pr025562r. PMID   12643545.
• Camand O, Boutboul S, Arbogast L, Roche O, Sternberg C, Sutherland J, et al. (September 2003). "Mutational analysis of the OA1 gene in ocular albinism". Ophthalmic Genetics. 24 (3): 167–173. doi:10.1076/opge.24.3.167.15605. PMID   12868035. S2CID   23456064.
• Mayeur H, Roche O, Vêtu C, Jaliffa C, Marchant D, Dollfus H, et al. (April 2006). "Eight previously unidentified mutations found in the OA1 ocular albinism gene". BMC Medical Genetics. 7: 41. doi: 10.1186/1471-2350-7-41 . PMC   1468396 . PMID   16646960.
• Sallmann GB, Bray PJ, Rogers S, Quince A, Cotton RG, Carden SM (June 2006). "Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC". Ophthalmic Genetics. 27 (2): 43–49. doi:10.1080/13816810600677834. PMID   16754205. S2CID   41887499.
• Chi A, Valencia JC, Hu ZZ, Watabe H, Yamaguchi H, Mangini NJ, et al. (November 2006). "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes". Journal of Proteome Research. 5 (11): 3135–3144. doi:10.1021/pr060363j. PMID   17081065.

External links

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