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


RefSeq Accession Definition Services Price Order
NM_152850 Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 2, mRNA. ORF Sequence $585.51
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_152850.3, 319918880
Length 2482 bp
Structure linear
Update Date 17-APR-2013
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 ERS025084 [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)124..>939
Exon (1)1..41
Gene:PIGO
Gene Synonym:HPMRS2; RP11-182N22.4
Exon (2)42..553
Gene:PIGO
Gene Synonym:HPMRS2; RP11-182N22.4
Exon (3)554..697
Gene:PIGO
Gene Synonym:HPMRS2; RP11-182N22.4
Exon (4)698..821
Gene:PIGO
Gene Synonym:HPMRS2; RP11-182N22.4
Exon (5)822..981
Gene:PIGO
Gene Synonym:HPMRS2; RP11-182N22.4
Exon (6)982..1161
Gene:PIGO
Gene Synonym:HPMRS2; RP11-182N22.4
Exon (7)1162..1386
Gene:PIGO
Gene Synonym:HPMRS2; RP11-182N22.4
Exon (8)1387..1438
Gene:PIGO
Gene Synonym:HPMRS2; RP11-182N22.4
Exon (9)1439..1645
Gene:PIGO
Gene Synonym:HPMRS2; RP11-182N22.4
Exon (10)1646..1860
Gene:PIGO
Gene Synonym:HPMRS2; RP11-182N22.4
Exon (11)1861..1931
Gene:PIGO
Gene Synonym:HPMRS2; RP11-182N22.4
Exon (12)1932..2465
Gene:PIGO
Gene Synonym:HPMRS2; RP11-182N22.4
Translation MQKASVLLFLAWVCFLFYAGIALFTSGFLLTRLELTNHSSCQEPPGPGSLPWGSQGKPGA CWMASRFSRVVLVLIDALRFDFAQPQHSHVPREPPVSLPFLGKLSSLQRILEIQPHHARL YRSQVDPPTTTMQRLKALTTGSLPTFIDAGSNFASHAIVEDNLIKQLTSAGRRVVFMGDD TWKDLFPGAFSKAFFFPSFNVRDLDTVDNGILEHLYPTMDSGEWDVLIAHFLGVDHCGHK HGPHHPEMAKKLSQMDQVIQGLVERLENDTLLVVAGDHGMTTNGDHGGDSELEVSAALFL YSPTAVFPSTPPEEPEVIPQVSLVPTLALLLGLPIPFGNIGEVMAELFSGGEDSQPHSSA LAQASALHLNAQQVSRFLHTYSAATQDLQAKELHQLQNLFSKASADYQWLLQSPKGAEAT LPTVIAELQQFLRGARAMCIESWARFSLSFLLLHLLAAGIPVTTPGPFTVPWQAVSAWAL MATQTFYSTGHQPVFPAIHWHAAFVGFPEGHGSCTWLPALLVGANTFASHLLFAVGCPLL LLWPFLCESQGLRKRQQPPGNEADARVRPEEEEEPLMEMRLRDAPQHFYAALLQLGLKYL FILGIQILACALAASILRRHLMVWKVFAPKFIFEAVGFIVSSVGLLLGIALVMRVDGAVS SWFRQLFLAQQR
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Position Chain Variation Link
complement(43)-t, cdbSNP:142559786
complement(73)-c, adbSNP:147710717
complement(132)-g, adbSNP:145530412
complement(147)-g, cdbSNP:200985888
complement(198)-c, adbSNP:4879860
complement(240)-t, gdbSNP:140028855
complement(264)-g, cdbSNP:202107154
complement(275)-g, adbSNP:111780791
complement(299)-t, cdbSNP:112670103
complement(300)-t, cdbSNP:113007517
complement(310)-t, cdbSNP:142276590
complement(311)-t, adbSNP:148704151
complement(367)-t, adbSNP:144631345
complement(416)-c, adbSNP:141810970
complement(432)-g, cdbSNP:139962374
complement(465)-g, adbSNP:116248521
complement(501)-g, adbSNP:201331400
complement(502)-g, cdbSNP:201813691
complement(503)-t, gdbSNP:142562923
complement(617)-dbSNP:
complement(617)-t, cdbSNP:138004232
complement(623)-c, adbSNP:61755365
complement(632)-g, adbSNP:150734953
complement(668)-t, cdbSNP:138028827
complement(717)-dbSNP:
complement(717)-g, adbSNP:200656082
complement(756)-g, adbSNP:148186264
complement(791)-t, cdbSNP:200782253
complement(836)-dbSNP:
complement(836)-t, cdbSNP:200924324
complement(872)-t, cdbSNP:201929958
complement(918)-t, cdbSNP:146908736
complement(973)-g, adbSNP:199800072
complement(978)-t, cdbSNP:148844555
complement(1011)-dbSNP:
complement(1011)-c, adbSNP:142658052
complement(1094)-t, cdbSNP:150137667
complement(1111)-g, adbSNP:141121202
complement(1127)-g, adbSNP:138538320
complement(1229)-dbSNP:
complement(1229)-t, adbSNP:146501297
complement(1312)-t, cdbSNP:201781179
complement(1319)-t, gdbSNP:147098410
complement(1325)-t, adbSNP:182396158
complement(1340)-t, cdbSNP:201911029
complement(1363)-t, cdbSNP:148970282
complement(1376)-t, cdbSNP:145761915
complement(1426)-dbSNP:
complement(1426)-t, cdbSNP:139155910
complement(1436..1437)-, gdbSNP:34361829
complement(1474..1475)-dbSNP:
complement(1474..1475)-, adbSNP:142697885
complement(1475)-c, adbSNP:200273243
complement(1514)-t, gdbSNP:201185181
complement(1550..1551)-, gdbSNP:141705016
complement(1554)-g, adbSNP:150780733
complement(1660)-dbSNP:
complement(1660)-g, adbSNP:142164373
complement(1682)-t, cdbSNP:148648652
complement(1772)-g, adbSNP:147155365
complement(1786)-g, adbSNP:61746764
complement(1793)-g, adbSNP:149391665
complement(1853)-g, cdbSNP:139423183
complement(1905)-dbSNP:
complement(1905)-t, cdbSNP:2298314
complement(1909)-t, cdbSNP:149439295
complement(1954)-dbSNP:
complement(1954)-g, adbSNP:147316771
complement(2013)-c, adbSNP:200684520
complement(2021)-g, cdbSNP:150257961
complement(2102)-c, adbSNP:556766
complement(2190)-t, cdbSNP:144078170
complement(2296)-c, adbSNP:183228101
complement(2328)-g, cdbSNP:79276933
Gene SymbolPIGO
Gene SynonymHPMRS2; RP11-182N22.4
Chromosome9
Locus Map9p13.3
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001201484 Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 3, mRNA. Full Length $850.86
ORF Sequence $585.51
NM_032634 Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA. Full Length $1430.45
ORF Sequence $1144.50
NM_152850 Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 2, mRNA. Full Length $719.78
ORF Sequence $585.51
Title Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation .
Author Krawitz,P.M., Murakami,Y., Hecht,J., Kruger,U., Holder,S.E., Mortier,G.R., Delle Chiaie,B., De Baere,E., Thompson,M.D., Roscioli,T., Kielbasa,S., Kinoshita,T., Mundlos,S., Robinson,P.N. 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,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. 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,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C., Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R., Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A., Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C., Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S., Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N., Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
Journal Am. J. Hum. Genet. 85 (5), 628-642 (2009)
Title DNA sequence and analysis of human chromosome 9 .
Author Humphray,S.J., Oliver,K., Hunt,A.R., Plumb,R.W., Loveland,J.E., Howe,K.L., Andrews,T.D., Searle,S., Hunt,S.E., Scott,C.E., Jones,M.C., Ainscough,R., Almeida,J.P., Ambrose,K.D., Ashwell,R.I., Babbage,A.K., Babbage,S., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J., Barlow,K.F., Bates,K., Beasley,H., Beasley,O., Bird,C.P., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D., Burrill,W., Burton,J., Carder,C., Carter,N.P., Chapman,J.C., Chen,Y., Clarke,G., Clark,S.Y., Clee,C.M., Clegg,S., Collier,R.E., Corby,N., Crosier,M., Cummings,A.T., Davies,J., Dhami,P., Dunn,M., Dutta,I., Dyer,L.W., Earthrowl,M.E., Faulkner,L., Fleming,C.J., Frankish,A., Frankland,J.A., French,L., Fricker,D.G., Garner,P., Garnett,J., Ghori,J., Gilbert,J.G., Glison,C., Grafham,D.V., Gribble,S., Griffiths,C., Griffiths-Jones,S., Grocock,R., Guy,J., Hall,R.E., Hammond,S., Harley,J.L., Harrison,E.S., Hart,E.A., Heath,P.D., Henderson,C.D., Hopkins,B.L., Howard,P.J., Howden,P.J., Huckle,E., Johnson,C., Johnson,D., Joy,A.A., Kay,M., Keenan,S., Kershaw,J.K., Kimberley,A.M., King,A., Knights,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A., Leversha,M., Lloyd,C., Lloyd,D.M., Lovell,J., Martin,S., Mashreghi-Mohammadi,M., Matthews,L., McLaren,S., McLay,K.E., McMurray,A., Milne,S., Nickerson,T., Nisbett,J., Nordsiek,G., Pearce,A.V., Peck,A.I., Porter,K.M., Pandian,R., Pelan,S., Phillimore,B., Povey,S., Ramsey,Y., Rand,V., Scharfe,M., Sehra,H.K., Shownkeen,R., Sims,S.K., Skuce,C.D., Smith,M., Steward,C.A., Swarbreck,D., Sycamore,N., Tester,J., Thorpe,A., Tracey,A., Tromans,A., Thomas,D.W., Wall,M., Wallis,J.M., West,A.P., Whitehead,S.L., Willey,D.L., Williams,S.A., Wilming,L., Wray,P.W., Young,L., Ashurst,J.L., Coulson,A., Blocker,H., Durbin,R., Sulston,J.E., Hubbard,T., Jackson,M.J., Bentley,D.R., 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,H.F., Gurney,A.L., 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,P.E., Heldens,S., Huang,A., Kim,H.S., 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,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z., Goddard,A., Wood,W.I., 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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