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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001202554 Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12

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RefSeq Version NM_001202554.1, 322309864
Length 2750 bp
Structure linear
Update Date 17-APR-2013
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 ERS025090 [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)669..671
Misc Feature(3)708..2168
Misc Feature(4)708..2168
Misc Feature(5)729..791
Misc Feature(6)921..983
Misc Feature(7)1029..1091
Misc Feature(8)1098..1160
Misc Feature(9)1173..1235
Misc Feature(10)1266..1328
Misc Feature(11)1392..1454
Misc Feature(12)1671..1733
Misc Feature(13)1824..1886
Misc Feature(14)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
270+c, tdbSNP:190998078
284+a, gdbSNP:148521110
312+a, gdbSNP:41303633
466+a, cdbSNP:200873231
511+a, gdbSNP:113210202
783+dbSNP:
783+a, gdbSNP:147565152
790+c, tdbSNP:139246652
823+a, gdbSNP:148135928
835+a, cdbSNP:145160045
865+g, tdbSNP:142252055
957+a, gdbSNP:201121029
962..963+, cdbSNP:34865008
1006+a, gdbSNP:180892038
1035+c, tdbSNP:149582139
1037+a, gdbSNP:148662665
1038+a, gdbSNP:142192097
1079+c, tdbSNP:139724134
1082+a, gdbSNP:147555011
1106+c, tdbSNP:199881077
1128+c, tdbSNP:185641230
1162+a, gdbSNP:201332799
1258+a, gdbSNP:202211728
1296+c, tdbSNP:149690056
1304+a, gdbSNP:34512715
1327+c, tdbSNP:146852030
1345+a, cdbSNP:201380762
1420+c, tdbSNP:148083457
1455+a, cdbSNP:267606952
1472+c, tdbSNP:141862926
1498+a, gdbSNP:149379900
1561+a, gdbSNP:147396061
1567+c, tdbSNP:200014772
1568+a, gdbSNP:147229452
1633+a, gdbSNP:199833588
1635+, tdbSNP:35943598
1648+a, gdbSNP:148610857
1662+a, gdbSNP:201084787
1669+a, gdbSNP:142884955
1711+a, c, tdbSNP:139073416
1732+c, tdbSNP:144053014
1840+c, tdbSNP:140681339
1843+a, cdbSNP:267606951
1844+a, cdbSNP:200817594
1966+dbSNP:
1966+c, tdbSNP:146969255
1982+a, gdbSNP:143218027
1989+a, gdbSNP:143081680
2013+g, tdbSNP:201804133
2058+c, tdbSNP:143676075
2070+c, tdbSNP:150563150
2137+g, tdbSNP:149327962
2141+a, cdbSNP:148409472
2156+c, gdbSNP:146467198
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 $509.00 $460.00 12
NM_017837 Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), transcript variant 2, mRNA. In-stock $509.00 $460.00 12
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,P.M., Mundlos,S., Robinson,P.N., 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,G.C. 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,P.M., Schweiger,M.R., 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,B.J., Doelken,S., Brunner,H.G., Meinecke,P., Passarge,E., Thompson,M.D., Cole,D.E., Horn,D., Roscioli,T., Mundlos,S. and Robinson,P.N.
Journal Nat. Genet. 42 (10), 827-829 (2010)
Title PIG-V involved in transferring the second mannose in glycosylphosphatidylinositol .
Author Kang,J.Y., Hong,Y., Ashida,H., Shishioh,N., Murakami,Y., Morita,Y.S., Maeda,Y. and Kinoshita,T.
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,A.L., Orlean,P. and Taron,C.H.
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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