Property Summary

NCBI Gene PubMed Count 50
Grant Count 8
R01 Count 6
Funding $973,821.08
PubMed Score 46.16
PubTator Score 42.81

Knowledge Summary

Patent (1,917)

Expression

  Differential Expression (4)

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.
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AA Sequence

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