Property Summary

NCBI Gene PubMed Count 50
PubMed Score 46.16
PubTator Score 42.81

Knowledge Summary

Patent (1,917)

Expression

  Differential Expression (4)

Disease log2 FC p
malignant mesothelioma -2.500 3.3e-08
cutaneous lupus erythematosus -1.600 2.1e-02
posterior fossa group B ependymoma 1.100 1.0e-04
invasive ductal carcinoma 1.100 4.1e-02

Gene RIF (34)

PMID Text
26741053 Downstream signaling from GPR143 controls RPE secretion of pigment epithelium-derived factor (PEDF), a potent neurotrophic and antiangiogenic factor.
26160353 Five mutations in GPR143 gene were detected in each of the five families, including a novel nonsense mutation of c.333G>A,two novel splicing mutations of c.360+1G>C and c.659-1G>A, a novel small deletion mutation of c.43_50dupGACGCAGC.
26061757 intronic mutation that creates a cryptic splice-donor site in GPR143 of patients with ocular albinism
24736838 OA1 is involved in melanoma cell migration and that OA1induced melanoma cell migration is mediated through the RAS/RAF/MEK/ERK signaling pathway.
24650003 Melanosome-autonomous regulation of size and number: the OA1 receptor sustains PMEL expression.
24526317 The GPR143 gene analysis identified an identical point mutation in two Ocular albinism 1 patients and their mothers .
24301936 a novel splicing site mutation of the GPR143 gene was found in a Han Chinese congenital ocular albinism pedigree.
22916221 Data report that p.Y269X mutation of GPR143 gene is responsible for the pathogenesis of familial ocular albinism.
22486324 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.
21931697 These results identify the Oa1 transducer Galphai3 as the first downstream component in the Oa1 signaling pathway.
21730137 The ocular albinism type 1 (OA1) GPCR is ubiquitinated and its traffic requires endosomal sorting complex responsible for transport (ESCRT) function.
21541274 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.
21423867 A novel causative mutation of GPR143 was identified in a five-generation Chinese family with X-linked ocular albinism.
21348135 This is the first report of a Japanese X-linked ocular albinism (XLOA) patient with a GPR143 mutation.
20861488 TYR gene mutations represent a relevant cause of oculocutaneous albinism in Italy, whereas mutations in P present a lower frequency. Clinical analysis revealed that the severity of the ocular manifestations depends on the degree of retinal pigmentation.
20649618 we describe the first Spanish family known to present with X linked ocular albinism due to mutations in the OA1 gene
19717472 OA1 interacts with MART-1 at early stages of melanogenesis to control melanosome identity and composition.
19610097 A Chinese family with X-linked ocular albinism and partial deletion of GPR143, is reported.
19604113 Our results confirm that GPR143 is the major locus for X_linked ocular albinism and that exon 2 is a region of high susceptibility to deletions.
19390656 Results suggest that this novel mutation in GPR143 is associated with the congenital nystagmus observed in this Chinese family.
19123159 The novel mutation p.G315X in the OA1 gene was identified in a Chinese family with ocular albinism, which is predicted to generate a premature stop codon.
18978956 These results expand the mutation spectrum of GPR143, and demonstrate the clinical characteristics of OA1 among the Chinese.
18828673 L-DOPA activates GPR143 signaling through a Gq pathway, while dopamine inhibits the receptor.
18828673 Results illustrate an autocrine loop between OA1 and tyrosinase linked through L-DOPA, and this loop includes the secretion of at least one very potent retinal neurotrophic factor.
18798082 Panretinal function in OA1 is within normal limits at all ages, consistent with previous reports in generalized albinism.
18523664 These results indicate that this novel GPR143 mutation is associated with the congenital nystagmus observed in this Chinese family.
17960122 Two novel mutations in OA1 gene were identified in two families with ocular albinism. Identified mutations are likely loss-of-function mutations. Mutations in OA1 gene are associated with majority of X-linked ocular albinism cases.
17822861 eight new mutations located in the coding region of the gene are identified.
17516023 Our results indicate that a mutation in the GPR143 gene can cause a variant form of ocular albinism, with congenital nystagmus as the most prominent and only consistent finding in all patients in this Chinese family.
16754205 No correlation was identified between congenital nystagmus and ocular albinism 1(OA1) gene.
16646960 Mutational analysis of the OA1 ocular albinism gene.
12868035 Mutations in the OA1 gene is associated with ocular albinism
12538723 OA1 has been immunologically characterized as an antigen that is expressed, processed, and presented in an MHC-restricted fashion by melanoma cells, but for which there is the human equivalent of a "knockout"--i.e., complete deletion in a male patient.
11793467 Review: mutational analysis in ocular albinism type 1

AA Sequence

MASPRLGTFCCPTRDAATQLVLSFQPRAFHALCLGSGGLRLALGLLQLLPGRRPAGPGSPATSPPASVRI      1 - 70
LRAAAACDLLGCLGMVIRSTVWLGFPNFVDSVSDMNHTEIWPAAFCVGSAMWIQLLYSACFWWLFCYAVD     71 - 140
AYLVIRRSAGLSTILLYHIMAWGLATLLCVEGAAMLYYPSVSRCERGLDHAIPHYVTMYLPLLLVLVANP    141 - 210
ILFQKTVTAVASLLKGRQGIYTENERRMGAVIKIRFFKIMLVLIICWLSNIINESLLFYLEMQTDINGGS    211 - 280
LKPVRTAAKTTWFIMGILNPAQGFLLSLAFYGWTGCSLGFQSPRKEIQWESLTTSAAEGAHPSPLMPHEN    281 - 350
PASGKVSQVGGQTSDEALSMLSEGSDASTIEIHTASESCNKNEGDPALPTHGDL                    351 - 404
//

Text Mined References (52)

PMID Year Title
26741053 Pigmentation and Macular Degeneration: Is There a Role for GPR143?
26160353 2015 GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.
26061757 2015 Deep intronic GPR143 mutation in a Japanese family with ocular albinism.
24736838 2014 Ocular albinism type 1-induced melanoma cell migration is mediated through the RAS/RAF/MEK/ERK signaling pathway.
24650003 2014 Melanosome-autonomous regulation of size and number: the OA1 receptor sustains PMEL expression.
24526317 2014 Macular optical coherence tomography findings and GPR143 mutations in patients with ocular albinism.
24301936 2013 A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree.
23535732 2013 Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
22916221 2012 A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism.
22486324 2012 GPR143 gene mutation analysis in pediatric patients with albinism.
21931697 2011 Specific interaction of G?i3 with the Oa1 G-protein coupled receptor controls the size and density of melanosomes in retinal pigment epithelium.
21730137 2011 The ocular albinism type 1 (OA1) GPCR is ubiquitinated and its traffic requires endosomal sorting complex responsible for transport (ESCRT) function.
21541274 2011 Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.
21423867 2011 A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus.
21348135 2010 Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation.
20861488 2011 Molecular and clinical characterization of albinism in a large cohort of Italian patients.
20649618 2010 Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism.
19717472 2009 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.
19610097 2009 Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation.
19604113 2009 GPR143 mutational analysis in two Italian families with X-linked ocular albinism.
19390656 2009 A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus.
19123159 Identification of a novel mutation in a Chinese family with X-linked ocular albinism.
18978956 2008 Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.
18828673 2008 L-DOPA is an endogenous ligand for OA1.
18798082 2008 Retinal function in X-linked ocular albinism (OA1).
18697795 2008 The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells.
18523664 2008 Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus.
17960122 2007 Identification of two novel mutations in families with X-linked ocular albinism.
17822861 2007 New mutations identified in the ocular albinism type 1 gene.
17516023 2007 Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation.
17081065 2006 Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.
16754205 2006 Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC.
16646960 2006 Eight previously unidentified mutations found in the OA1 ocular albinism gene.
16621890 2006 An unconventional dileucine-based motif and a novel cytosolic motif are required for the lysosomal and melanosomal targeting of OA1.
16524428 2006 The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12868035 2003 Mutational analysis of the OA1 gene in ocular albinism.
12643545 Proteomic analysis of early melanosomes: identification of novel melanosomal proteins.
12538723 2003 Normal tissue depresses while tumor tissue enhances human T cell responses in vivo to a novel self/tumor melanoma antigen, OA1.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11793467 2002 New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene.
11214907 2001 Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.
11115845 2000 Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1.
10471510 1999 Ocular albinism: evidence for a defect in an intracellular signal transduction system.
10094567 1999 Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
9887374 X-linked ocular albinism: prevalence and mutations--a national study.
9529334 1998 OA1 mutations and deletions in X-linked ocular albinism.
8634705 1995 Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.
8230160 1993 Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.
7647783 1995 Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome.
2573275 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.