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


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu18715 Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu18715C Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA. Customized vector On-demand $269.00 7-9

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Data sheet
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
Restriction Sites Hind III- EcoR I
RefSeq Version NM_000273.2, 270265838
Length 1215 bp
Structure linear
Update Date 03-MAY-2014
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
57+dbSNP:
57+a, gdbSNP: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
414+c, tdbSNP:137852298
complement(418)-g, adbSNP:191663680
complement(419)-t, cdbSNP:368303218
complement(421)-t, cdbSNP:374398304
complement(429)-g, cdbSNP:200574016
complement(456)-g, adbSNP:144226732
458+, gdbSNP:62635028
complement(469)-g, adbSNP:376337278
complement(491)-g, adbSNP:373467758
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
complement(618)-dbSNP:
complement(618)-t, cdbSNP:374270221
complement(631)-t, cdbSNP:369582310
666+a, cdbSNP:62635035
complement(670)-g, adbSNP:377171083
complement(688)-g, adbSNP:185069727
complement(689)-t, cdbSNP:200870584
complement(704)-dbSNP:
complement(704)-g, adbSNP:199899645
complement(718)-g, adbSNP:61733440
complement(767)-t, cdbSNP:374765532
complement(782)-g, cdbSNP:370624819
complement(803)-t, cdbSNP:201596200
complement(804)-g, adbSNP:374482621
complement(810)-dbSNP:
complement(810)-g, adbSNP:369465889
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
complement(925)-dbSNP:
complement(925)-t, cdbSNP:367731111
927+a, tdbSNP:62635042
960+a, gdbSNP:62635043
complement(972)-t, cdbSNP:374879794
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(1223)-t, cdbSNP:374388815
complement(1226)-t, cdbSNP:150179962
complement(1227)-t, cdbSNP:140873054
complement(1281)-dbSNP:
complement(1281)-t, cdbSNP:150992924
complement(1287)-g, adbSNP:370069153
complement(1303)-t, gdbSNP:377013842
complement(1304)-t, cdbSNP:142625084
complement(1341)-g, adbSNP:148263276
complement(1352)-t, cdbSNP:375135554
complement(1374)-g, adbSNP:370743553
complement(1413)-g, cdbSNP:377633602
complement(1424)-t, cdbSNP:145923021
1494+c, gdbSNP:1859002
1497+c, tdbSNP: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
NM_000273 Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA. On-demand TBD TBD
NM_000273 Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA. On-demand TBD TBD
Title Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array .
Author Eeles RA, Olama AA, Benlloch S, Saunders EJ, Leongamornlert DA, Tymrakiewicz M, Ghoussaini M, Luccarini C, Dennis J, Jugurnauth-Little S, Dadaev T, Neal DE, Hamdy FC, Donovan JL, Muir K, Giles GG, Severi G, Wiklund F, Gronberg H, Haiman CA, Schumacher F, Henderson BE, Le Marchand L, Lindstrom S, Kraft P, Hunter DJ, Gapstur S, Chanock SJ, Berndt SI, Albanes D, Andriole G, Schleutker J, Weischer M, Canzian F, Riboli E, Key TJ, Travis RC, Campa D, Ingles SA, John EM, Hayes RB, Pharoah PD, Pashayan N, Khaw KT, Stanford JL, Ostrander EA, Signorello LB, Thibodeau SN, Schaid D, Maier C, Vogel W, Kibel AS, Cybulski C, Lubinski J, Cannon-Albright L, Brenner H, Park JY, Kaneva R, Batra J, Spurdle AB, Clements JA, Teixeira MR, Dicks E, Lee A, Dunning AM, Baynes C, Conroy D, Maranian MJ, Ahmed S, Govindasami K, Guy M, Wilkinson RA, Sawyer EJ, Morgan A, Dearnaley DP, Horwich A, Huddart RA, Khoo VS, Parker CC, Van As NJ, Woodhouse CJ, Thompson A, Dudderidge T, Ogden C, Cooper CS, Lophatananon A, Cox A, Southey MC, Hopper JL, English DR, Aly M, Adolfsson J, Xu J, Zheng SL, Yeager M, Kaaks R, Diver WR, Gaudet MM, Stern MC, Corral R, Joshi AD, Shahabi A, Wahlfors T, Tammela TL, Auvinen A, Virtamo J, Klarskov P, Nordestgaard BG, Roder MA, Nielsen SF, Bojesen SE, Siddiq A, Fitzgerald LM, Kolb S, Kwon EM, Karyadi DM, Blot WJ, Zheng W, Cai Q, McDonnell SK, Rinckleb AE, Drake B, Colditz G, Wokolorczyk D, Stephenson RA, Teerlink C, Muller H, Rothenbacher D, Sellers TA, Lin HY, Slavov C, Mitev V, Lose F, Srinivasan S, Maia S, Paulo P, Lange E, Cooney KA, Antoniou AC, Vincent D, Bacot F, Tessier DC, Kote-Jarai Z and Easton DF.
Journal Nat. Genet. 45 (4), 385-391 (2013)
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 SP, Lan C, Wang Y, Zhou X, Yin Y, Yu W and Liu X.
Journal PLoS ONE 7 (8), E43177 (2012)
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 NB, Ramirez J, Reese BE, Birnbaumer L and Farber DB.
Journal PLoS ONE 6 (9), E24376 (2011)
Title New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene .
Author Oetting WS.
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 MV, Bassi MT, Galli L, Renieri A, Bruttini M, De Nigris F, Bergen AA, Charles SJ, Yates JR and Meindl A.
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 MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA 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 HC, Swensson O, Bouloux P and Meitinger T.
Journal J. Med. Genet. 30 (10), 838-842 (1993)
Title Ocular Albinism, X-Linked .
Author Lewis,R.A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (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 RE, Trask BJ, van den Engh G, Punnett HH, Kistenmacher M, Tomeo MA, Naids RE and Nussbaum RL.
Journal Am. J. Hum. Genet. 45 (5), 706-720 (1989)

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