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Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu24817 Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu24817C Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), transcript variant 1, mRNA. Customized vector In-stock $149.00 5-7

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_001202554.1, 322309864
Length 1482 bp
Structure linear
Update Date 17-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), transcript variant 1, mRNA.
Product GPI mannosyltransferase 2
Comment

Summary: This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia mental retardation syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011].


Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.


##Evidence-Data-START## Transcript exon combination :: AK056539.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025088, ERS025095 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

RefSeq NP_001189483.1
CDS 690..2171
Misc Feature(1)669..671
Misc Feature(2)711..2168
Misc Feature(3)711..2168
Misc Feature(4)729..791
Misc Feature(5)921..983
Misc Feature(6)1029..1091
Misc Feature(7)1098..1160
Misc Feature(8)1173..1235
Misc Feature(9)1266..1328
Misc Feature(10)1392..1454
Misc Feature(11)1671..1733
Misc Feature(12)1824..1886
Misc Feature(13)2097..2159
Exon (1)1..632
Gene:PIGV
Gene Synonym:GPI-MT-II; HPMRS1; PIG-V
Exon (2)633..767
Gene:PIGV
Gene Synonym:GPI-MT-II; HPMRS1; PIG-V
Exon (3)768..1889
Gene:PIGV
Gene Synonym:GPI-MT-II; HPMRS1; PIG-V
Exon (4)1890..2730
Gene:PIGV
Gene Synonym:GPI-MT-II; HPMRS1; PIG-V
Translation MWPQDPSRKEVLRFAVSCRILTLMLQALFNAIIPDHHAEAFSPPRLAPSGFVDQLVEGLL GGLSHWDAEHFLFIAEHGYLYEHNFAFFPGFPLALLVGTELLRPLRGLLSLRSCLLISVA SLNFLFFMLAAVALHDLGCLVLHCPHQSFYAALLFCLSPANVFLAAGYSEALFALLTFSA MGQLERGRVWTSVLLFAFATGVRSNGLVSVGFLMHSQCQGFFSSLTMLNPLRQLFKLMAS LFLSVFTLGLPFALFQYYAYTQFCLPGSARPIPEPLVQLAVDKGYRIAEGNEPPWCFWDV PLIYSYIQDVYWNVGFLKYYELKQVPNFLLAAPVAILVAWATWTYVTTHPWLCLTLGLQR SKNNKTLEKPDLGFLSPQVFVYVVHAAVLLLFGGLCMHVQVLTRFLGSSTPIMYWFPAHL LQDQEPLLRSLKTVPWKPLAEDSPPGQKVPRNPIMGLLYHWKTCSPVTRYILGYFLTYWL LGLLLHCNFLPWT
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Position Chain Variation Link
45+dbSNP:
45+a, cdbSNP:144736422
239+g, tdbSNP:371316837
270+c, tdbSNP:190998078
284+a, gdbSNP:148521110
312+a, gdbSNP:41303633
466+a, cdbSNP:200873231
511+a, gdbSNP:113210202
663+dbSNP:
663+c, tdbSNP:371376921
700+a, cdbSNP:374162679
712+g, tdbSNP:368673102
783+dbSNP:
783+a, gdbSNP:147565152
790+c, tdbSNP:139246652
804+a, gdbSNP:369275802
823+a, gdbSNP:148135928
835+a, cdbSNP:145160045
865+g, tdbSNP:142252055
957+a, gdbSNP:201121029
965..966+, cdbSNP:34865008
1001+c, tdbSNP:377286273
1005+c, tdbSNP:372631555
1006+a, gdbSNP:180892038
1013+a, gdbSNP:376858853
1035+c, tdbSNP:149582139
1037+a, gdbSNP:148662665
1038+a, gdbSNP:142192097
1068+c, tdbSNP:369959763
1079+c, tdbSNP:139724134
1082+a, gdbSNP:147555011
1097+c, tdbSNP:368460567
1106+c, tdbSNP:199881077
1117+a, gdbSNP:371892825
1128+c, tdbSNP:185641230
1156+a, gdbSNP:387907023
1162+a, gdbSNP:201332799
1183+a, cdbSNP:376328153
1252+a, gdbSNP:368069947
1258+a, gdbSNP:202211728
1296+c, tdbSNP:149690056
1304+a, gdbSNP:34512715
1310+a, gdbSNP:372005557
1327+c, tdbSNP:146852030
1345+a, cdbSNP:201380762
1348+g, tdbSNP:369077530
1420+c, tdbSNP:148083457
1455+a, cdbSNP:267606952
1472+c, tdbSNP:141862926
1474+a, gdbSNP:374660153
1483+c, tdbSNP:377225655
1497+c, tdbSNP:374158705
1498+a, gdbSNP:149379900
1561+a, gdbSNP:147396061
1567+c, tdbSNP:200014772
1568+a, gdbSNP:147229452
1609+c, tdbSNP:370558069
1633+a, gdbSNP:199833588
1639+, tdbSNP:35943598
1648+a, gdbSNP:148610857
1659+a, cdbSNP:373315999
1662+a, gdbSNP:201084787
1669+a, gdbSNP:142884955
1711+a, c, tdbSNP:139073416
1732+c, tdbSNP:144053014
1773+a, cdbSNP:376257064
1843+a, cdbSNP:267606951
1844+a, c, tdbSNP:200817594
1861+c, tdbSNP:374617474
1966+dbSNP:
1966+c, tdbSNP:146969255
1982+a, gdbSNP:143218027
1989+a, gdbSNP:143081680
2013+g, tdbSNP:201804133
2022+c, tdbSNP:370891890
2058+c, tdbSNP:143676075
2070+c, tdbSNP:150563150
2137+g, tdbSNP:149327962
2141+a, cdbSNP:148409472
2156+c, gdbSNP:146467198
2192+a, gdbSNP:374984126
2320+a, gdbSNP:3754360
2338+a, gdbSNP:142176099
2381+a, gdbSNP:57189461
2431..2432+, tdbSNP:35272099
2452+g, tdbSNP:185747325
Gene SymbolPIGV
Gene SynonymGPI-MT-II; HPMRS1; PIG-V
Chromosome1
Locus Map1p36.11
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001202554 Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), transcript variant 1, mRNA. In-stock $99.00 5-7
NM_001202554 Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), transcript variant 1, mRNA. In-stock $99.00 5-7
Title Discovery and refinement of loci associated with lipid levels .
Author Willer CJ, Schmidt EM, Sengupta S, Peloso GM, Gustafsson S, Kanoni S, Ganna A, Chen J, Buchkovich ML, Mora S, Beckmann JS, Bragg-Gresham JL, Chang HY, Demirkan A, Den Hertog HM, Do R, Donnelly LA, Ehret GB, Esko T, Feitosa MF, Ferreira T, Fischer K, Fontanillas P, Fraser RM, Freitag DF, Gurdasani D, Heikkila K, Hypponen E, Isaacs A, Jackson AU, Johansson A, Johnson T, Kaakinen M, Kettunen J, Kleber ME, Li X, Luan J, Lyytikainen LP, Magnusson PK, Mangino M, Mihailov E, Montasser ME, Muller-Nurasyid M, Nolte IM, O'Connell JR, Palmer CD, Perola M, Petersen AK, Sanna S, Saxena R, Service SK, Shah S, Shungin D, Sidore C, Song C, Strawbridge RJ, Surakka I, Tanaka T, Teslovich TM, Thorleifsson G, Van den Herik EG, Voight BF, Volcik KA, Waite LL, Wong A, Wu Y, Zhang W, Absher D, Asiki G, Barroso I, Been LF, Bolton JL, Bonnycastle LL, Brambilla P, Burnett MS, Cesana G, Dimitriou M, Doney AS, Doring A, Elliott P, Epstein SE, Eyjolfsson GI, Gigante B, Goodarzi MO, Grallert H, Gravito ML, Groves CJ, Hallmans G, Hartikainen AL, Hayward C, Hernandez D, Hicks AA, Holm H, Hung YJ, Illig T, Jones MR, Kaleebu P, Kastelein JJ, Khaw KT, Kim E, Klopp N, Komulainen P, Kumari M, Langenberg C, Lehtimaki T, Lin SY, Lindstrom J, Loos RJ, Mach F, McArdle WL, Meisinger C, Mitchell BD, Muller G, Nagaraja R, Narisu N, Nieminen TV, Nsubuga RN, Olafsson I, Ong KK, Palotie A, Papamarkou T, Pomilla C, Pouta A, Rader DJ, Reilly MP, Ridker PM, Rivadeneira F, Rudan I, Ruokonen A, Samani N, Scharnagl H, Seeley J, Silander K, Stancakova A, Stirrups K, Swift AJ, Tiret L, Uitterlinden AG, van Pelt LJ, Vedantam S, Wainwright N, Wijmenga C, Wild SH, Willemsen G, Wilsgaard T, Wilson JF, Young EH, Zhao JH, Adair LS, Arveiler D, Assimes TL, Bandinelli S, Bennett F, Bochud M, Boehm BO, Boomsma DI, Borecki IB, Bornstein SR, Bovet P, Burnier M, Campbell H, Chakravarti A, Chambers JC, Chen YD, Collins FS, Cooper RS, Danesh J, Dedoussis G, de Faire U, Feranil AB, Ferrieres J, Ferrucci L, Freimer NB, Gieger C, Groop LC, Gudnason V, Gyllensten U, Hamsten A, Harris TB, Hingorani A, Hirschhorn JN, Hofman A, Hovingh GK, Hsiung CA, Humphries SE, Hunt SC, Hveem K, Iribarren C, Jarvelin MR, Jula A, Kahonen M, Kaprio J, Kesaniemi A, Kivimaki M, Kooner JS, Koudstaal PJ, Krauss RM, Kuh D, Kuusisto J, Kyvik KO, Laakso M, Lakka TA, Lind L, Lindgren CM, Martin NG, Marz W, McCarthy MI, McKenzie CA, Meneton P, Metspalu A, Moilanen L, Morris AD, Munroe PB, Njolstad I, Pedersen NL, Power C, Pramstaller PP, Price JF, Psaty BM, Quertermous T, Rauramaa R, Saleheen D, Salomaa V, Sanghera DK, Saramies J, Schwarz PE, Sheu WH, Shuldiner AR, Siegbahn A, Spector TD, Stefansson K, Strachan DP, Tayo BO, Tremoli E, Tuomilehto J, Uusitupa M, van Duijn CM, Vollenweider P, Wallentin L, Wareham NJ, Whitfield JB, Wolffenbuttel BH, Ordovas JM, Boerwinkle E, Palmer CN, Thorsteinsdottir U, Chasman DI, Rotter JI, Franks PW, Ripatti S, Cupples LA, Sandhu MS, Rich SS, Boehnke M, Deloukas P, Kathiresan S, Mohlke KL, Ingelsson E and Abecasis GR.
Journal Nat. Genet. 45 (11), 1274-1283 (2013)
Title Glycosylphosphatidylinositol mannosyltransferase II is the rate-limiting enzyme in glycosylphosphatidylinositol biosynthesis under limited dolichol-phosphate mannose availability .
Author Hirata T, Fujita M, Kanzawa N, Murakami Y, Maeda Y and Kinoshita T.
Journal J. Biochem. 154 (3), 257-264 (2013)
Title Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome .
Author Murakami Y, Kanzawa N, Saito K, Krawitz PM, Mundlos S, Robinson PN, Karadimitris A, Maeda Y and Kinoshita T.
Journal J. Biol. Chem. 287 (9), 6318-6325 (2012)
Title Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum .
Author Horn D, Krawitz P, Mannhardt A, Korenke GC and Meinecke P.
Journal Am. J. Med. Genet. A 155A (8), 1917-1922 (2011)
Title Identity-by-descent filtering of exome sequence data identifies .
Author Krawitz PM, Schweiger MR, Rodelsperger C, Marcelis C, Kolsch U, Meisel C, Stephani F, Kinoshita T, Murakami Y, Bauer S, Isau M, Fischer A, Dahl A, Kerick M, Hecht J, Kohler S, Jager M, Grunhagen J, de Condor BJ, Doelken S, Brunner HG, Meinecke P, Passarge E, Thompson MD, Cole DE, Horn D, Roscioli T, Mundlos S and Robinson PN.
Journal Nat. Genet. 42 (10), 827-829 (2010)
Title PIG-V involved in transferring the second mannose in glycosylphosphatidylinositol .
Author Kang JY, Hong Y, Ashida H, Shishioh N, Murakami Y, Morita YS, Maeda
Journal J. Biol. Chem. 280 (10), 9489-9497 (2005)
Title Saccharomyces cerevisiae Ybr004c and its human homologue are required for addition of the second mannose during glycosylphosphatidylinositol precursor assembly .
Author Fabre AL, Orlean P and Taron CH.
Journal FEBS J. 272 (5), 1160-1168 (2005)
Title Dissecting and manipulating the pathway for glycosylphos-phatidylinositol-anchor biosynthesis .
Author Kinoshita T and Inoue N.
Journal Curr Opin Chem Biol 4 (6), 632-638 (2000)

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