| 释义 |
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{{Infobox_gene}}{{Infobox protein family
| Symbol = Ocular_alb
| Name = Ocular albinism type 1 protein
| image =
| width =
| caption =
| Pfam = PF02101
| Pfam_clan = CL0192
| InterPro = IPR001414
| SMART =
| PROSITE =
| MEROPS =
| SCOP =
| TCDB =
| OPM family =
| OPM protein =
| CAZy =
| CDD =
}}G-protein coupled receptor 143 is a protein encoded by the GPR143 gene in humans.[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]InteractionsGPR143 has been shown to interact with GNAI1.[2] References1. ^{{cite journal |vauthors=Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A | title = Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome | journal = Nat Genet | volume = 10 | issue = 1 | pages = 13–9 |date=Sep 1995 | pmid = 7647783 | pmc = | doi = 10.1038/ng0595-13 }}
2. ^1 {{cite journal |vauthors=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 | title = Ocular albinism: evidence for a defect in an intracellular signal transduction system | journal = Nat Genet | volume = 23 | issue = 1 | pages = 108–12 |date=Sep 1999 | pmid = 10471510 | pmc = | doi = 10.1038/12715 }}
3. ^1 {{cite web | title = Entrez Gene: GPR143 G protein-coupled receptor 143| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4935| accessdate = }}
4. ^{{cite journal |vauthors=Vetrini F, Auricchio A, Du J | title = The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis | journal = Mol. Cell. Biol. | volume = 24 | issue = 15 | pages = 6550–9 | year = 2004 | pmid = 15254223 | doi = 10.1128/MCB.24.15.6550-6559.2004 | pmc = 444869 |display-authors=etal}}
5. ^{{cite journal |vauthors=Hoek KS, Schlegel NC, Eichhoff OM | title = Novel MITF targets identified using a two-step DNA microarray strategy | journal = Pigment Cell Melanoma Res. | volume = 21 | issue = 6 | pages = 665–76 | year = 2008 | pmid = 19067971| doi = 10.1111/j.1755-148X.2008.00505.x |display-authors=etal}}
6. ^{{cite journal | vauthors = Lopez VM, Decatur CL, Stamer WD, Lynch RM, McKay BS | editor1-last = Barsh | editor1-first = Gregory S | title = L-DOPA is an endogenous ligand for OA1 | journal = PLoS Biol. | volume = 6 | issue = 9 | pages = e236 |date=September 2008 | pmid = 18828673 | pmc = 2553842 | doi = 10.1371/journal.pbio.0060236 | url = | issn = }}
Further reading{{Refbegin | 2}}- {{Cite journal |vauthors=Oetting WS, King RA |title=Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. |journal=Hum. Mutat. |volume=13 |issue= 2 |pages= 99–115 |year= 1999 |pmid= 10094567 |doi= 10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C }}
- {{Cite journal | author=Oetting WS |title=New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. |journal=Hum. Mutat. |volume=19 |issue= 2 |pages= 85–92 |year= 2002 |pmid= 11793467 |doi= 10.1002/humu.10034 }}
- {{Cite journal |vauthors=Schnur RE, Trask BJ, van den Engh G |title=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. |journal=Am. J. Hum. Genet. |volume=45 |issue= 5 |pages= 706–20 |year= 1989 |pmid= 2573275 |doi= | pmc=1683435 |display-authors=etal}}
- {{Cite journal |vauthors=Meindl A, Hosenfeld D, Brückl W |title=Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism. |journal=J. Med. Genet. |volume=30 |issue= 10 |pages= 838–42 |year= 1993 |pmid= 8230160 |doi=10.1136/jmg.30.10.838 | pmc=1016566 |display-authors=etal}}
- {{Cite journal |vauthors=Schiaffino MV, Bassi MT, Galli L |title=Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. |journal=Hum. Mol. Genet. |volume=4 |issue= 12 |pages= 2319–25 |year= 1996 |pmid= 8634705 |doi=10.1093/hmg/4.12.2319 |display-authors=etal}}
- {{Cite journal |vauthors=Schnur RE, Gao M, Wick PA |title=OA1 mutations and deletions in X-linked ocular albinism. |journal=Am. J. Hum. Genet. |volume=62 |issue= 4 |pages= 800–9 |year= 1998 |pmid= 9529334 |doi=10.1086/301776 | pmc=1377018 |display-authors=etal}}
- {{Cite journal |vauthors=Rosenberg T, Schwartz M |title=X-linked ocular albinism: prevalence and mutations--a national study. |journal=Eur. J. Hum. Genet. |volume=6 |issue= 6 |pages= 570–7 |year= 1999 |pmid= 9887374 |doi= 10.1038/sj.ejhg.5200226 }}
- {{Cite journal |vauthors=d'Addio M, Pizzigoni A, Bassi MT |title=Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. |journal=Hum. Mol. Genet. |volume=9 |issue= 20 |pages= 3011–8 |year= 2001 |pmid= 11115845 |doi=10.1093/hmg/9.20.3011 |display-authors=etal}}
- {{Cite journal |vauthors=Bassi MT, Bergen AA, Bitoun P |title=Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. |journal=Hum. Genet. |volume=108 |issue= 1 |pages= 51–4 |year= 2001 |pmid= 11214907 |doi=10.1007/s004390000440 |display-authors=etal}}
- {{Cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
- {{Cite journal |vauthors=Touloukian CE, Leitner WW, Schnur RE |title=Normal tissue depresses while tumor tissue enhances human T cell responses in vivo to a novel self/tumor melanoma antigen, OA1. |journal=J. Immunol. |volume=170 |issue= 3 |pages= 1579–85 |year= 2003 |pmid= 12538723 |doi= 10.4049/jimmunol.170.3.1579| pmc=2241741 |display-authors=etal}}
- {{Cite journal |vauthors=Basrur V, Yang F, Kushimoto T |title=Proteomic analysis of early melanosomes: identification of novel melanosomal proteins. |journal=J. Proteome Res. |volume=2 |issue= 1 |pages= 69–79 |year= 2003 |pmid= 12643545 |doi=10.1021/pr025562r |display-authors=etal}}
- {{Cite journal |vauthors=Camand O, Boutboul S, Arbogast L |title=Mutational analysis of the OA1 gene in ocular albinism. |journal=Ophthalmic Genet. |volume=24 |issue= 3 |pages= 167–73 |year= 2003 |pmid= 12868035 |doi=10.1076/opge.24.3.167.15605 |display-authors=etal}}
- {{Cite journal |vauthors=Mayeur H, Roche O, Vêtu C |title=Eight previously unidentified mutations found in the OA1 ocular albinism gene. |journal=BMC Med. Genet. |volume=7|pages= 41 |year= 2006 |pmid= 16646960 |doi= 10.1186/1471-2350-7-41 | pmc=1468396 |display-authors=etal}}
- {{Cite journal |vauthors=Sallmann GB, Bray PJ, Rogers S |title=Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC. |journal=Ophthalmic Genet. |volume=27 |issue= 2 |pages= 43–9 |year= 2006 |pmid= 16754205 |doi= 10.1080/13816810600677834 |display-authors=etal}}
- {{Cite journal |vauthors=Chi A, Valencia JC, Hu ZZ |title=Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. |journal=J. Proteome Res. |volume=5 |issue= 11 |pages= 3135–44 |year= 2007 |pmid= 17081065 |doi= 10.1021/pr060363j |display-authors=etal}}
{{Refend}}External links- [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=x-oa GeneReviews/NCBI/NIH/UW entry on Ocular Albinism, X-Linked]
{{G protein-coupled receptors}}{{DEFAULTSORT:Gpr143}}{{transmembranereceptor-stub}} 1 : G protein-coupled receptors |