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Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 2, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu15672 Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 2, mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu15672C Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 2, 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_152850.3, 319918880
Length 2019 bp
Structure linear
Update Date 13-APR-2014
Organism Homo sapiens (human)
Definition Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 2, mRNA.
Product GPI ethanolamine phosphate transferase 3 isoform 2
Comment

Summary: This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This protein is involved in the transfer of ethanolaminephosphate (EtNP) to the third mannose in GPI. At least three alternatively spliced transcripts encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011].


Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (2) has the same N- and C-termini but lacks an internal segment compared to isoform 1. Variants 2 and 3 both encode the same isoform (2).


##Evidence-Data-START## CDS exon combination :: BC036916.1 [ECO:0000331] RNAseq introns :: single sample supports all introns ERS025087 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

RefSeq NP_690577.2
CDS 43..2061
Misc Feature(1)52..114
Misc Feature(2)52..114
Misc Feature(3)166..>939
Misc Feature(4)250..>900
Exon (1)1..41
Gene:PIGO
Gene Synonym:HPMRS2
Exon (2)42..553
Gene:PIGO
Gene Synonym:HPMRS2
Exon (3)554..697
Gene:PIGO
Gene Synonym:HPMRS2
Exon (4)698..821
Gene:PIGO
Gene Synonym:HPMRS2
Exon (5)822..981
Gene:PIGO
Gene Synonym:HPMRS2
Exon (6)982..1161
Gene:PIGO
Gene Synonym:HPMRS2
Exon (7)1162..1386
Gene:PIGO
Gene Synonym:HPMRS2
Exon (8)1387..1438
Gene:PIGO
Gene Synonym:HPMRS2
Exon (9)1439..1645
Gene:PIGO
Gene Synonym:HPMRS2
Exon (10)1646..1860
Gene:PIGO
Gene Synonym:HPMRS2
Exon (11)1861..1931
Gene:PIGO
Gene Synonym:HPMRS2
Exon (12)1932..2465
Gene:PIGO
Gene Synonym:HPMRS2
Translation MQKASVLLFLAWVCFLFYAGIALFTSGFLLTRLELTNHSSCQEPPGPGSLPWGSQGKPGA CWMASRFSRVVLVLIDALRFDFAQPQHSHVPREPPVSLPFLGKLSSLQRILEIQPHHARL YRSQVDPPTTTMQRLKALTTGSLPTFIDAGSNFASHAIVEDNLIKQLTSAGRRVVFMGDD TWKDLFPGAFSKAFFFPSFNVRDLDTVDNGILEHLYPTMDSGEWDVLIAHFLGVDHCGHK HGPHHPEMAKKLSQMDQVIQGLVERLENDTLLVVAGDHGMTTNGDHGGDSELEVSAALFL YSPTAVFPSTPPEEPEVIPQVSLVPTLALLLGLPIPFGNIGEVMAELFSGGEDSQPHSSA LAQASALHLNAQQVSRFLHTYSAATQDLQAKELHQLQNLFSKASADYQWLLQSPKGAEAT LPTVIAELQQFLRGARAMCIESWARFSLSFLLLHLLAAGIPVTTPGPFTVPWQAVSAWAL MATQTFYSTGHQPVFPAIHWHAAFVGFPEGHGSCTWLPALLVGANTFASHLLFAVGCPLL LLWPFLCESQGLRKRQQPPGNEADARVRPEEEEEPLMEMRLRDAPQHFYAALLQLGLKYL FILGIQILACALAASILRRHLMVWKVFAPKFIFEAVGFIVSSVGLLLGIALVMRVDGAVS SWFRQLFLAQQR
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Position Chain Variation Link
complement(73)-c, adbSNP:147710717
complement(106)-t, cdbSNP:368371015
complement(132)-g, adbSNP:145530412
complement(147)-g, cdbSNP:200985888
complement(198)-c, adbSNP:4879860
complement(240)-t, gdbSNP:140028855
complement(259)-c, adbSNP:371057978
complement(264)-g, cdbSNP:202107154
complement(275)-g, adbSNP:111780791
complement(279)-t, cdbSNP:376966684
complement(299)-t, cdbSNP:112670103
complement(300)-t, cdbSNP:113007517
complement(310)-t, cdbSNP:142276590
complement(343)-g, adbSNP:373797114
complement(367)-t, adbSNP:144631345
complement(381)-c, adbSNP:370330559
complement(406)-g, adbSNP:375682284
complement(432)-g, cdbSNP:139962374
complement(435)-g, adbSNP:372920674
complement(465)-g, adbSNP:116248521
complement(501)-g, adbSNP:201331400
complement(502)-g, cdbSNP:201813691
complement(503)-t, gdbSNP:142562923
complement(510)-g, adbSNP:374876329
complement(617)-dbSNP:
complement(617)-t, cdbSNP:138004232
complement(623)-c, adbSNP:61755365
complement(632)-g, adbSNP:150734953
complement(668)-t, cdbSNP:138028827
complement(688)-g, adbSNP:372754217
complement(717)-dbSNP:
complement(717)-g, adbSNP:200656082
complement(729)-g, adbSNP:375778167
complement(756)-g, adbSNP:148186264
complement(791)-t, cdbSNP:200782253
complement(836)-dbSNP:
complement(836)-t, cdbSNP:200924324
complement(841)-t, cdbSNP:373238572
complement(849)-g, adbSNP:369714563
complement(872)-t, cdbSNP:201929958
complement(918)-t, cdbSNP:146908736
complement(952..953)-, gdbSNP:376188003
complement(973)-g, adbSNP:199800072
complement(978)-t, cdbSNP:148844555
complement(988)-dbSNP:
complement(988)-t, cdbSNP:377198873
complement(1011)-c, adbSNP:142658052
complement(1088)-g, adbSNP:371657025
complement(1091)-g, cdbSNP:368691880
complement(1094)-t, cdbSNP:150137667
complement(1111)-g, adbSNP:141121202
complement(1115)-g, adbSNP:376445701
complement(1127)-g, adbSNP:138538320
complement(1153)-c, adbSNP:376944648
complement(1229)-dbSNP:
complement(1229)-t, adbSNP:146501297
complement(1299)-t, cdbSNP:368442419
complement(1312)-t, cdbSNP:201781179
complement(1319)-t, gdbSNP:147098410
complement(1325)-t, adbSNP:182396158
complement(1330)-g, cdbSNP:375108991
complement(1340)-t, cdbSNP:201911029
complement(1351)-t, cdbSNP:371896003
complement(1363)-t, cdbSNP:148970282
complement(1376)-t, cdbSNP:145761915
complement(1426)-dbSNP:
complement(1426)-t, cdbSNP:139155910
complement(1436..1437)-, gdbSNP:34361829
complement(1470)-dbSNP:
complement(1470)-t, cdbSNP:376154801
complement(1474..1475)-, adbSNP:142697885
complement(1475)-c, adbSNP:200273243
complement(1496)-g, cdbSNP:372802683
complement(1514)-t, gdbSNP:201185181
complement(1549..1550)-, gdbSNP:141705016
complement(1554)-g, adbSNP:150780733
complement(1598)-g, cdbSNP:375724131
complement(1608)-t, cdbSNP:371834214
complement(1626)-g, adbSNP:370574266
complement(1660)-dbSNP:
complement(1660)-g, adbSNP:142164373
complement(1682)-t, cdbSNP:148648652
complement(1749)-g, adbSNP:368361555
complement(1772)-g, adbSNP:147155365
complement(1786)-g, adbSNP:61746764
complement(1793)-g, adbSNP:149391665
complement(1811)-g, adbSNP:375711240
complement(1853)-g, cdbSNP:139423183
complement(1894)-dbSNP:
complement(1894)-g, adbSNP:376829041
1905+c, tdbSNP:2298314
complement(1909)-t, cdbSNP:149439295
complement(1952)-dbSNP:
complement(1952)-t, cdbSNP:372353644
complement(1954)-g, adbSNP:147316771
complement(1986)-g, adbSNP:374458317
complement(2013)-c, adbSNP:200684520
complement(2021)-g, cdbSNP:150257961
complement(2090)-t, cdbSNP:370278095
complement(2102)-c, adbSNP:556766
complement(2102)-c, adbSNP:386599037
complement(2190)-t, cdbSNP:144078170
complement(2296)-c, adbSNP:183228101
complement(2328)-g, cdbSNP:79276933
Gene SymbolPIGO
Gene SynonymHPMRS2
Chromosome9
Locus Map9p13.3
Title PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels .
Author Nakamura K, Osaka H, Murakami Y, Anzai R, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Kinoshita T, Matsumoto N and Saitsu H.
Journal Epilepsia 55 (2), E13-E17 (2014)
Title Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation .
Author Krawitz PM, Murakami Y, Hecht J, Kruger U, Holder SE, Mortier GR, Delle Chiaie B, De Baere E, Thompson MD, Roscioli T, Kielbasa S, Kinoshita T, Mundlos S, Robinson PN and Horn D.
Journal Am. J. Hum. Genet. 91 (1), 146-151 (2012)
Title Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study .
Author Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC and Anand S.
Journal Diabetes Care 33 (10), 2250-2253 (2010)
Title Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip .
Author Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE and Hingorani AD.
Journal Am. J. Hum. Genet. 85 (5), 628-642 (2009)
Title A germline-specific class of small RNAs binds mammalian Piwi proteins .
Author Girard A, Sachidanandam R, Hannon GJ and Carmell MA.
Journal Nature 442 (7099), 199-202 (2006)
Title DNA sequence and analysis of human chromosome 9 .
Author Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL, Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R, Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H, Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ, Bentley DR, Beck S, Rogers J and Dunham I.
Journal Nature 429 (6990), 369-374 (2004)
Title The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment .
Author Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P and Gray A.
Journal Genome Res. 13 (10), 2265-2270 (2003)
Title Identification of G protein-coupled receptor genes from the human genome sequence .
Author Takeda S, Kadowaki S, Haga T, Takaesu H and Mitaku S.
Journal FEBS Lett. 520 (1-3), 97-101 (2002)
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)
Title Requirement of PIG-F and PIG-O for transferring phosphoethanolamine to the third mannose in glycosylphosphatidylinositol .
Author Hong Y, Maeda Y, Watanabe R, Inoue N, Ohishi K and Kinoshita T.
Journal J. Biol. Chem. 275 (27), 20911-20919 (2000)

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