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Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000273 Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_000273.2, 270265838
Length 1711 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA.
Product G-protein coupled receptor 143
Comment

Summary: 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].

RefSeq NP_000264.2
CDS 149..1363
Misc Feature(1)62..64
Misc Feature(2)149..1360
Misc Feature(3)149..1360
Misc Feature(4)233..295
Misc Feature(5)383..445
Misc Feature(6)521..583
Misc Feature(7)596..658
Misc Feature(8)722..784
Misc Feature(9)809..862
Misc Feature(10)812..841
Misc Feature(11)893..955
Misc Feature(12)1025..1087
Misc Feature(13)1133..1138
Exon (1)1..398
Gene:GPR143
Gene Synonym:NYS6; OA1
Exon (2)399..508
Gene:GPR143
Gene Synonym:NYS6; OA1
Exon (3)509..603
Gene:GPR143
Gene Synonym:NYS6; OA1
Exon (4)604..696
Gene:GPR143
Gene Synonym:NYS6; OA1
Exon (5)697..806
Gene:GPR143
Gene Synonym:NYS6; OA1
Exon (6)807..915
Gene:GPR143
Gene Synonym:NYS6; OA1
Exon (7)916..1033
Gene:GPR143
Gene Synonym:NYS6; OA1
Exon (8)1034..1268
Gene:GPR143
Gene Synonym:NYS6; OA1
Exon (9)1269..1696
Gene:GPR143
Gene Synonym:NYS6; OA1
Translation MASPRLGTFCCPTRDAATQLVLSFQPRAFHALCLGSGGLRLALGLLQLLPGRRPAGPGSP ATSPPASVRILRAAAACDLLGCLGMVIRSTVWLGFPNFVDSVSDMNHTEIWPAAFCVGSA MWIQLLYSACFWWLFCYAVDAYLVIRRSAGLSTILLYHIMAWGLATLLCVEGAAMLYYPS VSRCERGLDHAIPHYVTMYLPLLLVLVANPILFQKTVTAVASLLKGRQGIYTENERRMGA VIKIRFFKIMLVLIICWLSNIINESLLFYLEMQTDINGGSLKPVRTAAKTTWFIMGILNP AQGFLLSLAFYGWTGCSLGFQSPRKEIQWESLTTSAAEGAHPSPLMPHENPASGKVSQVG GQTSDEALSMLSEGSDASTIEIHTASESCNKNEGDPALPTHGDL
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Position Chain Variation Link
complement(57)-dbSNP:
complement(57)-g, adbSNP:3810741
complement(108)-t, cdbSNP:180998522
161+c, tdbSNP:62635289
252+a, gdbSNP:62635018
264+g, tdbSNP:62635019
299..305+, ggccgccdbSNP:281865176
313..341+, gggccccgggtcccccgcgacgtccccgcdbSNP:63749126
322..323+, cdbSNP:62635022
323+, tdbSNP:62635023
363..379+, gcgctgccgctgcctgcdbSNP:62645741
380+a, gdbSNP:62635024
381+a, tdbSNP:62635025
398+c, gdbSNP:62635026
399+dbSNP:
399+a, gdbSNP:62635027
complement(399)-, cdbSNP:34876833
complement(410)-g, adbSNP:144066077
complement(412)-t, cdbSNP:147369809
complement(414)-t, cdbSNP:137852298
complement(418)-g, adbSNP:191663680
complement(429)-g, cdbSNP:200574016
complement(456)-g, adbSNP:144226732
458+, gdbSNP:62635028
494+c, tdbSNP:62635030
495+c, gdbSNP:62635029
complement(497)-t, cdbSNP:137938780
501+a, gdbSNP:62635031
complement(504)-t, cdbSNP:150915415
508+a, gdbSNP:281865178
complement(511)-dbSNP:
complement(511)-t, cdbSNP:141573793
519+a, gdbSNP:62635032
complement(544)-c, adbSNP:148358078
545+a, c, tdbSNP:137852296
complement(547..548)-, cdbSNP:35528779
550+, gdbSNP:62635034
561+c, tdbSNP:62635762
complement(584)-g, adbSNP:201830411
complement(588)-t, cdbSNP:58068096
592..593+, agatcggdbSNP:281865180
complement(592)-t, cdbSNP:186055724
complement(603)-t, cdbSNP:58933950
666+dbSNP:
666+a, cdbSNP:62635035
complement(688)-g, adbSNP:185069727
complement(689)-t, cdbSNP:200870584
complement(704)-dbSNP:
complement(704)-g, adbSNP:199899645
complement(718)-g, adbSNP:61733440
complement(803)-t, cdbSNP:201596200
complement(812)-dbSNP:
complement(812)-g, adbSNP:149605054
824+, gdbSNP:281865182
834+g, tdbSNP:62635037
843+a, cdbSNP:137852297
845+a, gdbSNP:62635038
complement(850)-g, adbSNP:138339667
853+a, gdbSNP:62635039
complement(871)-t, cdbSNP:145665834
878+a, gdbSNP:62635040
complement(899)-g, cdbSNP:199528158
902..915+, gttttaattatttgdbSNP:281865183
927+dbSNP:
927+a, tdbSNP:62635042
960+a, gdbSNP:62635043
1016..1018+, accdbSNP:62635044
1022+g, tdbSNP:62635045
1024+a, g, tdbSNP:62635046
1079..1080+dbSNP:
1079..1080+, cgdbSNP:62635047
complement(1184)-t, cdbSNP:34324958
complement(1193)-t, cdbSNP:138809166
complement(1226)-t, cdbSNP:150179962
complement(1227)-t, cdbSNP:140873054
complement(1281)-dbSNP:
complement(1281)-t, cdbSNP:150992924
complement(1304)-t, cdbSNP:142625084
complement(1341)-g, adbSNP:148263276
complement(1424)-t, cdbSNP:145923021
complement(1494)-g, cdbSNP:1859002
complement(1497)-t, cdbSNP:3044
complement(1538)-t, cdbSNP:73484540
complement(1578)-t, cdbSNP:182842357
complement(1593)-c, adbSNP:73484539
complement(1638)-t, cdbSNP:192175598
complement(1641)-, cdbSNP:202208682
complement(1695)-t, cdbSNP:141287135
Gene SymbolGPR143
Gene SynonymNYS6; OA1
ChromosomeX
Locus MapXp22.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000273 Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA. On-demand TBD TBD
Title GPR143 gene mutation analysis in pediatric patients with albinism .
Author Trebusak Podkrajsek,K., Stirn Kranjc,B., Hovnik,T., Kovac,J. and Battelino,T.
Journal Ophthalmic Genet. 33 (3), 167-170 (2012)
Title A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism .
Author Yan,N., Liao,X., Cai,S.P., Lan,C., Wang,Y., Zhou,X., Yin,Y., Yu,W. and Liu,X.
Journal PLoS ONE 7 (8), E43177 (2012)
Title The ocular albinism type 1 (OA1) GPCR is ubiquitinated and its traffic requires endosomal sorting complex responsible for transport (ESCRT) function .
Author Giordano,F., Simoes,S. and Raposo,G.
Journal Proc. Natl. Acad. Sci. U.S.A. 108 (29), 11906-11911 (2011)
Title Specific interaction of Galphai3 with the Oa1 G-protein coupled receptor controls the size and density of melanosomes in retinal pigment epithelium .
Author Young,A., Jiang,M., Wang,Y., Ahmedli,N.B., Ramirez,J., Reese,B.E., Birnbaumer,L. and Farber,D.B.
Journal PLoS ONE 6 (9), E24376 (2011)
Title Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism .
Author Preising,M.N., Forster,H., Gonser,M. and Lorenz,B.
Journal Mol. Vis. 17, 939-948 (2011)
Title New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene .
Author Oetting,W.S.
Journal Hum. Mutat. 19 (2), 85-92 (2002)
Title Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism .
Author Schiaffino,M.V., Bassi,M.T., Galli,L., Renieri,A., Bruttini,M., De Nigris,F., Bergen,A.A., Charles,S.J., Yates,J.R., Meindl,A. et al.
Journal Hum. Mol. Genet. 4 (12), 2319-2325 (1995)
Title Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome .
Author Bassi,M.T., Schiaffino,M.V., Renieri,A., De Nigris,F., Galli,L., Bruttini,M., Gebbia,M., Bergen,A.A., Lewis,R.A. and Ballabio,A.
Journal Nat. Genet. 10 (1), 13-19 (1995)
Title Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism .
Author Meindl,A., Hosenfeld,D., Bruckl,W., Schuffenhauer,S., Jenderny,J., Bacskulin,A., Oppermann,H.C., Swensson,O., Bouloux,P. and Meitinger,T.
Journal J. Med. Genet. 30 (10), 838-842 (1993)
Title 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 .
Author Schnur,R.E., Trask,B.J., van den Engh,G., Punnett,H.H., Kistenmacher,M., Tomeo,M.A., Naids,R.E. and Nussbaum,R.L.
Journal Am. J. Hum. Genet. 45 (5), 706-720 (1989)


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