The Full Wiki

More info on GPR143

GPR143: Wikis

Advertisements

Note: Many of our articles have direct quotes from sources you can cite, within the Wikipedia article! This article doesn't yet, but we're working on it! See more info or our list of citable articles.

Encyclopedia

From Wikipedia, the free encyclopedia

edit
G protein-coupled receptor 143
Identifiers
Symbols GPR143; OA1
External IDs OMIM300500 MGI107193 HomoloGene230 IUPHAR: GPR143 GeneCards: GPR143 Gene
RNA expression pattern
PBB GE GPR143 206696 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 4935 18241
Ensembl ENSG00000101850 ENSMUSG00000025333
UniProt P51810 Q549B6
RefSeq (mRNA) NM_000273 NM_010951
RefSeq (protein) NP_000264 NP_035081
Location (UCSC) Chr X:
9.65 - 9.69 Mb
Chr X:
148.12 - 148.15 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].

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. PMID 15254223.  
  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.  

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. 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. 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. 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. 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. 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. 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.  
Advertisements

Advertisements






Got something to say? Make a comment.
Your name
Your email address
Message