GPR143
G protein spregnuti receptor 143 je protein koji je kod ljudi kodiran GPR143 genom.[1][2][3]
Okularni albinizam tip 1 protein je konzervirani integralni membranski protein sa sedam transmembranskih domena. On je izražen u oku i epidermalnim melanocitima.[3]
GPR143 gen je regulisan mikroftalmija-asociranim transkripcionim faktorom.[4][5]
L-DOPA je endogeni ligand za OA1.[6]
Interakcije
GPR143 formira initekcije Protein-protein interakcija sa GNAI1.[7]
Reference
- ↑ 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.
- ↑ 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.
- ↑ 3,0 3,1 „Entrez Gene: GPR143 G protein-coupled receptor 143”.
- ↑ 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.
- ↑ 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.
- ↑ Lopez VM, Decatur CL, Stamer WD, Lynch RM, McKay BS (September 2008). Barsh, Gregory S.. ur. „L-DOPA is an endogenous ligand for OA1”. PLoS Biol. 6 (9): e236. DOI:10.1371/journal.pbio.0060236. PMC 2553842. PMID 18828673.
- ↑ 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 (September 1999). „Ocular albinism: evidence for a defect in an intracellular signal transduction system”. Nat. Genet. (UNITED STATES) 23 (1): 108–12. DOI:10.1038/12715. ISSN 1061-4036. PMID 10471510.
Literatura
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
Spoljašnje veze
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Klasa A: Rodopsinu slični | | | |
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| Adenozinski ( A1, A2A, A2B, A3) • P2Y ( 1, 2, 4, 5, 6, 8, 9, 10, 11, 12, 13, 14) |
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Drugi | Acetilholin ( M1, M2, M3, M4, M5) • Dopamin ( D1, D2, D3, D4, D5) • Histamin ( H1, H2, H3, H4) • Melatonin ( 1A, 1B, 1C) • TAAR ( 1, 2, 3, 5, 6, 8, 9) |
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Metaboliti i signalni molekuli | | |
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Drugi | Žučna kiselina • Kanabinoidni ( CB1, CB2, GPR ( 18, 55, 119)) • EBI2 • Estrogen • Slobodna masna kiselina ( 1, 2, 3, 4) • Laktat • Lizofosfatidna kiselina ( 1, 2, 3, 4, 5, 6) • Lizofosfolipid ( 1, 2, 3, 4, 5, 6, 7, 8) • Niacin ( 1, 2) • Oksoglutarat • PAF • Sfingozin-1-fosfat ( 1, 2, 3, 4, 5) • Sukcinat |
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Peptid | | |
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Drugi | Anafilatoksin ( C3a, C5a) • Angiotenzin ( 1, 2) • Apelin • Bombezin ( BRS3, GRPR, NMBR) • Bradikinin ( B1, B2) • Hemokin • Holecistokinin ( A, B) • Endotelin ( A, B) • Formil peptid ( 1, 2, 3) • FSH • Galanin ( 1, 2, 3) • GHB receptor • Gonadotropin-oslobađajući hormon ( 1, 2) • Grelin • Kispeptin • Luteinizirajući hormon/horiogonadotropin • MAS ( 1, 1L, D, E, F, G, X1, X2, X3, X4) • Melanokortin ( 1, 2, 3, 4, 5) • MCHR ( 1, 2) • Motilin • Opioidni ( δ, κ, μ, Nociceptin & ζ, ali ne σ) • Oreksin ( 1, 2) • Oksitocin • Prokineticin ( 1, 2) • Prolaktin-oslobađajući peptid • Relaksin ( 1, 2, 3, 4) • Somatostatin ( 1, 2, 3, 4, 5) • Tahikinin ( 1, 2, 3) • Tirotropin • Tirotropin-oslobađajući hormon • Urotenzin-II • Vazopresin ( 1A, 1B, 2) |
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Razno | | GPR ( 1, 3, 4, 6, 12, 15, 17, 18, 19, 20, 21, 22, 23, 25, 26, 27, 31, 32, 33, 34, 35, 37, 39, 42, 44, 45, 50, 52, 55, 61, 62, 63, 65, 68, 75, 77, 78, 81, 82, 83, 84, 85, 87, 88, 92, 101, 103, 109A, 109B, 119, 120, 132, 135, 137B, 139, 141, 142, 146, 148, 149, 150, 151, 152, 153, 160, 161, 162, 171, 173, 174, 176, 177, 182, 183) |
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Drugi | Adrenomedulin • Mirisni • Opsin ( 3, 4, 5, 1LW, 1MW, 1SW, RGR, RRH) • Proteazom-aktivirani ( 1, 2, 3, 4) • SREB ( 1, 2, 3) |
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Klasa B: Sekretinu slični | | GPR ( 56, 64, 97, 98, 110, 111, 112, 113, 114, 115, 116, 123, 124, 125, 126, 128, 133, 143, 144, 155, 157) |
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Drugi | Moždano specifični angiogenezni inhibitor ( 1, 2, 3) • Cadherin ( 1, 2, 3) • Kalcitonin • CALCRL • CD97 • Kortikotropin-oslobađajući hormon ( 1, 2) • EMR ( 1, 2, 3) • Glukagon ( GR, GIPR, GLP1R, GLP2R) • Hormon rasta oslobađajući hormon • PACAPR1 • GPR • Latrofilin ( 1, 2, 3, ELTD1) • Metuselah-slični proteini • Paratiroidni hormon ( 1, 2) • Sekretin • Vazoaktivni intestinalni peptid ( 1, 2) |
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Klasa C: Metabotropni glutamat / feromon | | TAS1R ( 1, 2, 3) • TAS2R ( 1, 3, 4, 5, 8, 9, 10, 12, 13, 14, 16, 19, 20, 30, 31, 38, 39, 40, 41, 42, 43, 45, 46, 50) |
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Drugi | Kalcijum-detektujući receptor • GABA B ( 1, 2) • Glutamatni receptor ( Metabotropni glutamat ( 1, 2, 3, 4, 5, 6, 7, 8)) • GPRC6A • GPR ( 156, 158, 179) • RAIG ( 1, 2, 3, 4) |
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Klasa F: Frizzled / Zaglađeni | |
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B trdu: peptidi (nrpl/grfl/cytl/horl), receptori (lgic, enzr, gprc, igsr, intg, nrpr/grfr/cytr), itra (adap, gbpr, mapk), calc, lipd, signalni putevi (hedp, wntp, tgfp+mapp, notp, jakp, fsap, hipp, tlrp) |
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