GPR143

G protein-coupled receptor 143
Identifiers
Symbols	GPR143; NYS6; OA1
External IDs	OMIM: 300808 MGI: 107193 HomoloGene: 230 IUPHAR: GPR143 GeneCards: GPR143 Gene
Gene Ontology Molecular function • receptor activity • G-protein coupled receptor activity • protein binding • dopamine binding • L-DOPA receptor activity • L-DOPA binding • tyrosine binding Cellular component • membrane fraction • cytoplasm • lysosomal membrane • Golgi apparatus • plasma membrane • membrane • integral to membrane • apical plasma membrane • melanosome membrane • melanosome Biological process • eye pigment biosynthetic process • signal transduction • G-protein coupled receptor protein signaling pathway • G-protein coupled receptor protein signaling pathway • G-protein coupled receptor protein signaling pathway • visual perception • melanosome localization • melanosome localization • melanosome transport • melanosome organization • calcium-mediated signaling using intracellular calcium source • phosphatidylinositol-mediated signaling • regulation of calcium-mediated signaling Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4935	18241
Ensembl	ENSG00000101850	ENSMUSG00000025333
UniProt	P51810	Q549B6
RefSeq (mRNA)	NM_000273	NM_010951.3
RefSeq (protein)	NP_000264	NP_035081.3
Location (UCSC)	Chr X: 9.69 – 9.75 Mb	Chr X: 149.22 – 149.24 Mb
PubMed search	[1]	[2]

G-protein coupled receptor 143 is a protein that in humans is encoded by the GPR143 gene.^[1][2][3]

Ocular albinism type 1 protein is a conserved integral membrane protein with seven transmembrane domains. It is expressed in the eye and epidermal melanocytes.^[3]

The GPR143 gene is regulated by the Microphthalmia-associated transcription factor.^[4][5]

L-DOPA is an endogenous ligand for OA1.^[6]

Interactions

GPR143 has been shown to interact with GNAI1.^[2]

References

1. ^ 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. doi:10.1038/ng0595-13. PMID 7647783. 
2. ^ ^{a b} 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. doi:10.1038/12715. PMID 10471510. 
3. ^ ^{a b} "Entrez Gene: GPR143 G protein-coupled receptor 143". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4935. 
4. ^ Vetrini F, Auricchio A, Du J, et al. (2004). "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. doi:10.1128/MCB.24.15.6550-6559.2004. PMC 444869. PMID 15254223. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=444869. 
5. ^ Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. 
6. ^ Lopez VM, Decatur CL, Stamer WD, Lynch RM, McKay BS (September 2008). Barsh, Gregory S.. ed. "L-DOPA is an endogenous ligand for OA1". PLoS Biol. 6 (9): e236. doi:10.1371/journal.pbio.0060236. PMC 2553842. PMID 18828673. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2553842. 

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. doi:10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C. PMID 10094567. 
• Oetting WS (2002). "New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene.". Hum. Mutat. 19 (2): 85–92. doi:10.1002/humu.10034. PMID 11793467. 
• 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. PMC 1683435. PMID 2573275. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1683435. 
• 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. doi:10.1136/jmg.30.10.838. PMC 1016566. PMID 8230160. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1016566. 
• 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. doi:10.1093/hmg/4.12.2319. 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. doi:10.1086/301776. PMC 1377018. PMID 9529334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1377018. 
• Rosenberg T, Schwartz M (1999). "X-linked ocular albinism: prevalence and mutations--a national study.". Eur. J. Hum. Genet. 6 (6): 570–7. doi:10.1038/sj.ejhg.5200226. 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. doi:10.1093/hmg/9.20.3011. 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. doi:10.1007/s004390000440. PMID 11214907. 
• 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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• 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. PMC 2241741. PMID 12538723. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2241741. 
• 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. doi:10.1021/pr025562r. 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. doi:10.1076/opge.24.3.167.15605. PMID 12868035. 
• 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. doi:10.1186/1471-2350-7-41. PMC 1468396. PMID 16646960. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1468396. 
• 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. doi:10.1080/13816810600677834. PMID 16754205. 
• 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. doi:10.1021/pr060363j. PMID 17081065. 

External links

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

This transmembrane receptor-related article is a stub. You can help Wikipedia by expanding it.v · Categories: Human proteins G protein coupled receptors Transmembrane receptor stubs Wikimedia Foundation. 2010. Игры ⚽ Нужен реферат? Neuropeptide Y receptor Y5 Laurel Korholz Look at other dictionaries: Okulärer Albinismus Typ 1 — Der Okuläre Albinismus Typ 1 (OA1) ist ein X chromosomal vererbter Zustand, bei dem alle die Augen betreffenden Symptome des Albinismus auftreten, während der Körper normal pigmentiert ist. Weitere Bezeichnungen für OA1 und die dazugehörigen Gene …   Deutsch Wikipedia Morpholino — Segment of a Morpholino RNA heteroduplex, 8 mer shown In molecular biology, a Morpholino is a molecule in a particular structural family that is used to modify gene expression. Morpholino oligomers (oligos) are an antisense technology used to… …   Wikipedia Microphthalmia-associated transcription factor — Identifiers Symbols MITF; MI; WS2; WS2A; bHLHe32 External IDs …   Wikipedia Ocular albinism — Classification and external resources ICD 10 E70.3 ICD 9 270.2 …   Wikipedia Albinismus — Klassifikation nach ICD 10 E70.3 Albinismus …   Deutsch Wikipedia Morpholino — Segment of a Morpholino RNA heteroduplex, 8 mer shown En biologie moléculaire, un morpholino est un type de molécule utilisé pour modifier l expression génétique. La technologie des oligonucléotides morpholinos est une technologie antisens… …   Wikipédia en Français Morpholinos — Morpholino Segment of a Morpholino RNA heteroduplex, 8 mer shown En biologie moléculaire, un morpholino est un type de molécule utilisé pour modifier l expression génétique. La technologie des oligonucléotides morpholinos est une technologie… …   Wikipédia en Français Phosphorodiamidate morpholino oligo — Morpholino Segment of a Morpholino RNA heteroduplex, 8 mer shown En biologie moléculaire, un morpholino est un type de molécule utilisé pour modifier l expression génétique. La technologie des oligonucléotides morpholinos est une technologie… …   Wikipédia en Français Альбинизм — МКБ 10 E70.370.3 МКБ 9 270.2270.2 OMIM 203100 …   Википедия Factor de transcripción asociado con microftalmia — HUGO 7105 Símbolo MITF Símbolos alt. WS2A …   Wikipedia Español 18+ © Academic, 2000-2024 Contact us: Technical Support, Advertising Dictionaries export, created on PHP, Joomla, Drupal, WordPress, MODx. Mark and share Search through all dictionaries Translate… Search Internet Share the article and excerpts Direct link … Do a right-click on the link above and select “Copy Link”