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G Protein Coupled Receptor 143 (GPR143)

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OA1; Ocular Albinism 1(Nettleship-Falls)

G Protein Coupled Receptor 143 (GPR143)
CCC G707
HGNC 20145
MGI 107193
PubMed 21541274
RGD 1565799
UniProt P51810
Wiki GPR143
GPR143 encodes a protein that binds to heterotrimeric G proteins and is targeted to melanosomes in pigment cells. This protein is thought to be involved in intracellular signal transduction mechanisms. Mutations in this gene cause ocular albinism type 1, also referred to as Nettleship-Falls type ocular albinism, a severe visual disorder. A related pseudogene has been identified on chromosome Y. According to the ribosome scanning model of translation, the weak Kozak signal of the upstream start codon would make it subject to leaky scanning, and thus the downstream start codon, which has a stronger Kozak signal, would be used. However, there is no experimental evidence showing which start codon is used in vivo. Thus, the use of the upstream start codon, at least some of the time, cannot be ruled out.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant G Protein Coupled Receptor 143 (GPR143) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to G Protein Coupled Receptor 143 (GPR143) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to G Protein Coupled Receptor 143 (GPR143) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for G Protein Coupled Receptor 143 (GPR143) CLIA Kit Customized Service Offer
n/a ELISA Kit for G Protein Coupled Receptor 143 (GPR143) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant G Protein Coupled Receptor 143 (GPR143) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to G Protein Coupled Receptor 143 (GPR143) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to G Protein Coupled Receptor 143 (GPR143) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for G Protein Coupled Receptor 143 (GPR143) CLIA Kit Customized Service Offer
n/a ELISA Kit for G Protein Coupled Receptor 143 (GPR143) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant G Protein Coupled Receptor 143 (GPR143) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to G Protein Coupled Receptor 143 (GPR143) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to G Protein Coupled Receptor 143 (GPR143) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for G Protein Coupled Receptor 143 (GPR143) CLIA Kit Customized Service Offer
n/a ELISA Kit for G Protein Coupled Receptor 143 (GPR143) ELISA Kit Customized Service Offer
  1. "Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome."Nat. Genet. 10:13-19(1995) [PubMed] [Europe PMC] [Abstract]
  2. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism."Hum. Mutat. 13:99-115(1999) [PubMed] [Europe PMC] [Abstract]
  5. "Ocular albinism: evidence for a defect in an intracellular signal transduction system."Nat. Genet. 23:108-112(1999) [PubMed] [Europe PMC] [Abstract]
  6. "Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1."Hum. Mol. Genet. 9:3011-3018(2000) [PubMed] [Europe PMC] [Abstract]
  7. "New insights into ocular albinism type 1 (OA1): mutations and polymorphisms of the OA1 gene."Hum. Mutat. 19:85-92(2002) [PubMed] [Europe PMC] [Abstract]
  8. "Proteomic analysis of early melanosomes: identification of novel melanosomal proteins."J. Proteome Res. 2:69-79(2003) [PubMed] [Europe PMC] [Abstract]
  9. "An unconventional dileucine-based motif and a novel cytosolic motif are required for the lysosomal and melanosomal targeting of OA1."J. Cell Sci. 119:2003-2014(2006) [PubMed] [Europe PMC] [Abstract]
  10. "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes."J. Proteome Res. 5:3135-3144(2006) [PubMed] [Europe PMC] [Abstract]
  11. "The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor."Pigment Cell Res. 19:125-135(2006) [PubMed] [Europe PMC] [Abstract]
  12. "The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells."Hum. Mol. Genet. 17:3487-3501(2008) [PubMed] [Europe PMC] [Abstract]
  13. "L-DOPA is an endogenous ligand for OA1."PLoS Biol. 6:E236-E236(2008) [PubMed] [Europe PMC] [Abstract]
  14. "The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition."Hum. Mol. Genet. 18:4530-4545(2009) [PubMed] [Europe PMC] [Abstract]
  15. "Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism."Hum. Mol. Genet. 4:2319-2325(1995) [PubMed] [Europe PMC] [Abstract]
  16. "OA1 mutations and deletions in X-linked ocular albinism." Am. J. Hum. Genet. 62:800-809(1998) [PubMed] [Europe PMC] [Abstract]
  17. "X-linked ocular albinism: prevalence and mutations -- a national study."Eur. J. Hum. Genet. 6:570-577(1998) [PubMed] [Europe PMC] [Abstract]
  18. "Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America."Hum. Genet. 108:51-54(2001) [PubMed] [Europe PMC] [Abstract]
  19. "Eight previously unidentified mutations found in the OA1 ocular albinism gene."BMC Med. Genet. 7:41-41(2006) [PubMed] [Europe PMC] [Abstract]
  20. "New mutations identified in the ocular albinism type 1 gene."Gene 402:20-27(2007) [PubMed] [Europe PMC] [Abstract]
  21. "Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation."J. Hum. Genet. 52:565-570(2007) [PubMed] [Europe PMC] [Abstract]
  22. "Identification of two novel mutations in families with X-linked ocular albinism."Mol. Vis. 13:1856-1861(2007) [PubMed] [Europe PMC] [Abstract]
  23. "Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism."Mol. Vis. 14:1974-1982(2008) [PubMed] [Europe PMC] [Abstract]