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G protein-coupled receptor 143

OA1, GPR143
This gene 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. [provided by RefSeq, Dec 2009] (from NCBI)
Top mentioned proteins: HAD, CAN, ACID, Iris, GPCR
Papers on OA1
Role of ocular albinism type 1 (OA1) GPCR in Asian gypsy moth development and transcriptional expression of heat-shock protein genes.
New
Cao et al., Harbin, China. In Pestic Biochem Physiol, Jan 2016
The ocular albinism type 1 gene, named OA1, is a coding pigment cell-specific G protein-coupled receptor exclusively localized in intracellular organelles.
Dopamine signaling regulates the projection patterns in the mouse chiasm.
New
Jin et al., Shenzhen, China. In Brain Res, Dec 2015
This study investigated DA-related signaling pathways in mouse chiasm projection patterns and the potential role of ocular albinism type 1 (OA1) and dopamine 1A (D1A) receptors in the optic pathway.
Mining Retrospective Data for Virtual Prospective Drug Repurposing: L-DOPA and Age-related Macular Degeneration.
New
McKay et al., Tucson, United States. In Am J Med, Nov 2015
GPR143 is the only known L-DOPA receptor; it is therefore plausible that GPR143 may be a fruitful target to combat this devastating disease.
[Suspected pathogenic mutation identified in two cases with oculocutaneous albinism].
New
Hua et al., Taiyuan, China. In Zhonghua Yi Xue Yi Chuan Xue Za Zhi, Aug 2015
METHODS: All exons of the non-syndromic albinism related genes TYR, OCA2, TYRP-1, MITF, SLC45A2 and GPR143 were subjected to deep sequencing.
Regulation of melanosome number, shape and movement in the zebrafish retinal pigment epithelium by OA1 and PMEL.
New
Futter et al., London, United Kingdom. In J Cell Sci, May 2015
Morpholino-mediated knockdown of OA1 (also known as GPR143), mutations in the human homologue of which cause the most common form of human ocular albinism, induces a major reduction in melanosome number, recapitulating a key feature of the mammalian disease where reduced melanosome numbers precede macromelanosome formation.
Deep intronic GPR143 mutation in a Japanese family with ocular albinism.
Imoto et al., Tokushima, Japan. In Sci Rep, 2014
Although mutations or copy number alterations of coding regions were not identified in candidate genes, the novel intronic mutation c.659-131 T > G within GPR143 intron 5 was identified as hemizygous in affected siblings and as heterozygous in the unaffected mother.
Controlled exosome release from the retinal pigment epithelium in situ.
Review
McKay et al., Tucson, United States. In Exp Eye Res, 2014
Retinal Pigment Epithelial cells (RPE) express both GPR143 and myocilin, which interact in a signal transduction-dependent manner.
GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.
Li et al., Tianjin, China. In Sci Rep, 2014
However, it is easily misdiagnosed as congenital idiopathic nystagmus in some Chinese patients with OA1 caused by the G-protein coupled receptor 143 (GPR143) gene mutations.
WASH and Tsg101/ALIX-dependent diversion of stress-internalized EGFR from the canonical endocytic pathway.
Futter et al., London, United Kingdom. In Nat Commun, 2014
Stress-internalized EGFR co-segregates with exogenously expressed pre-melanosomal markers OA1 and fibrillar PMEL, following early endosomal sorting by the actin polymerization-promoting WASH complex.
Cardiovascular actions of DOPA mediated by the gene product of ocular albinism 1.
Review
Koga et al., Yokohama, Japan. In J Pharmacol Sci, 2013
Recently, the gene product of ocular albinism 1 (OA1) was shown to possess DOPA-binding activity.
Albinism in Europe.
Review
Montoliu et al., Madrid, Spain. In J Dermatol, 2013
At least four forms of OCA and one of OA are known, associated with TYR (OCA1), OCA2 (OCA2), TYRP1 (OCA3), SLC45A2 (OCA4) and GPR143 (OA1) loci, respectively.
GPR143 gene mutation analysis in pediatric patients with albinism.
GeneRIF
Battelino et al., Ljubljana, Slovenia. In Ophthalmic Genet, 2012
Four patients with X-linked ocular albinism type 1 were identified from a cohort of 15 boys with clinical signs of albinism using mutation detection methods.
The ocular albinism type 1 (OA1) GPCR is ubiquitinated and its traffic requires endosomal sorting complex responsible for transport (ESCRT) function.
GeneRIF
Raposo et al., Paris, France. In Proc Natl Acad Sci U S A, 2011
The ocular albinism type 1 (OA1) GPCR is ubiquitinated and its traffic requires endosomal sorting complex responsible for transport (ESCRT) function.
A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus.
GeneRIF
Wu et al., Changsha, China. In Mol Vis, 2010
A novel causative mutation of GPR143 was identified in a five-generation Chinese family with X-linked ocular albinism.
Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.
GeneRIF
Lorenz et al., Regensburg, Germany. In Mol Vis, 2010
TYR gene mutations have a more severe effect on pigmentation than mutations in OCA2 and the GPR143 gene. Nevertheless, mutations in these genes affect the development of visual function either directly or by interaction with other genes like MC1R.
Specific interaction of Gαi3 with the Oa1 G-protein coupled receptor controls the size and density of melanosomes in retinal pigment epithelium.
GeneRIF
Farber et al., Los Angeles, United States. In Plos One, 2010
These results identify the Oa1 transducer Galphai3 as the first downstream component in the Oa1 signaling pathway.
Signaling pathways in melanosome biogenesis and pathology.
Review
Schiaffino, Milano, Italy. In Int J Biochem Cell Biol, 2010
Among the most relevant mechanisms operating in melanosome biogenesis are the signal transduction pathways mediated by two peculiar G protein-coupled receptors: the melanocortin-1 receptor (MC1R), involved in the fair skin/red hair phenotype and skin cancer; and OA1 (GPR143), whose loss-of-function results in X-linked ocular albinism.
Ocular Albinism, X-Linked
Review
Lewis, Seattle, United States. In Unknown Journal, 2004
Molecular genetic testing of GPR143(previously OA1) detects pathogenic variants in more than 90% of affected males.
Ocular albinism: evidence for a defect in an intracellular signal transduction system.
Impact
Ballabio et al., Milano, Italy. In Nat Genet, 1999
We provide here structural evidence that the protein product of the ocular albinism type 1 gene (OA1), a pigment cell-specific integral membrane glycoprotein, represents a novel member of the GPCR superfamily and demonstrate that it binds heterotrimeric G proteins.
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome.
Impact
Ballabio et al., Siena, Italy. In Nat Genet, 1995
Ocular albinism type 1 (OA1) is an X-linked disorder characterized by severe impairment of visual acuity, retinal hypopigmentation and the presence of macromelanosomes.
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