true
2002-08-13
2024-03-27
180
PIGO_HUMAN
The full-ORF clone resource of the German cDNA consortium.
Bechtel S.
Rosenfelder H.
Duda A.
Schmidt C.P.
Ernst U.
Wellenreuther R.
Mehrle A.
Schuster C.
Bahr A.
Bloecker H.
Heubner D.
Hoerlein A.
Michel G.
Wedler H.
Koehrer K.
Ottenwaelder B.
Poustka A.
Wiemann S.
Schupp I.
doi:10.1186/1471-2164-8-399
2007
BMC Genomics
8
399
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
Testis
The nucleotide sequence of a long cDNA clone isolated from human spleen.
Jikuya H.
Takano J.
Nomura N.
Kikuno R.
Nagase T.
Ohara O.
2002-01
EMBL/GenBank/DDBJ
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
Spleen
The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
Clark H.F.
Gurney A.L.
Abaya E.
Baker K.
Baldwin D.T.
Brush J.
Chen J.
Chow B.
Chui C.
Crowley C.
Currell B.
Deuel B.
Dowd P.
Eaton D.
Foster J.S.
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.R.
Robbie E.
Sanchez C.
Schoenfeld J.
Seshagiri S.
Simmons L.
Singh J.
Smith V.
Stinson J.
Vagts A.
Vandlen R.L.
Watanabe C.
Wieand D.
Woods K.
Xie M.-H.
Yansura D.G.
Yi S.
Yu G.
Yuan J.
Zhang M.
Zhang Z.
Goddard A.D.
Wood W.I.
Godowski P.J.
Gray A.M.
doi:10.1101/gr.1293003
2003
Genome Res.
13
2265-2270
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
Sequence analysis of a human P1 clone containing the XRCC9 DNA repair gene.
Lamerdin J.E.
McCready P.M.
Skowronski E.
Adamson A.W.
Burkhart-Schultz K.
Gordon L.
Kyle A.
Ramirez M.
Stilwagen S.
Phan H.
Velasco N.
Garnes J.
Danganan L.
Poundstone P.
Christensen M.
Georgescu A.
Avila J.
Liu S.
Attix C.
Andreise T.
Trankheim M.
Amico-Keller G.
Coefield J.
Duarte S.
Lucas S.
Bruce R.
Thomas P.
Quan G.
Kronmiller B.
Arellano A.
Montgomery M.
Ow D.
Nolan M.
Trong S.
Kobayashi A.
Olsen A.O.
Carrano A.V.
1998-03
EMBL/GenBank/DDBJ
NUCLEOTIDE SEQUENCE [GENOMIC DNA]
DNA sequence and analysis of human chromosome 9.
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.S.
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.R.
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.I.
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.M.
Sulston J.E.
Hubbard T.
Jackson M.J.
Bentley D.R.
Beck S.
Rogers J.
Dunham I.
doi:10.1038/nature02465
2004
Nature
429
369-374
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
Mural R.J.
Istrail S.
Sutton G.G.
Florea L.
Halpern A.L.
Mobarry C.M.
Lippert R.
Walenz B.
Shatkay H.
Dew I.
Miller J.R.
Flanigan M.J.
Edwards N.J.
Bolanos R.
Fasulo D.
Halldorsson B.V.
Hannenhalli S.
Turner R.
Yooseph S.
Lu F.
Nusskern D.R.
Shue B.C.
Zheng X.H.
Zhong F.
Delcher A.L.
Huson D.H.
Kravitz S.A.
Mouchard L.
Reinert K.
Remington K.A.
Clark A.G.
Waterman M.S.
Eichler E.E.
Adams M.D.
Hunkapiller M.W.
Myers E.W.
Venter J.C.
2005-09
EMBL/GenBank/DDBJ
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team
doi:10.1101/gr.2596504
2004
Genome Res.
14
2121-2127
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2)
Duodenum
Eye
Lung
Identification of G protein-coupled receptor genes from the human genome sequence.
Takeda S.
Kadowaki S.
Haga T.
Takaesu H.
Mitaku S.
doi:10.1016/s0014-5793(02)02775-8
2002
FEBS Lett.
520
97-101
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 601-968
The consensus coding sequences of human breast and colorectal cancers.
Sjoeblom T.
Jones S.
Wood L.D.
Parsons D.W.
Lin J.
Barber T.D.
Mandelker D.
Leary R.J.
Ptak J.
Silliman N.
Szabo S.
Buckhaults P.
Farrell C.
Meeh P.
Markowitz S.D.
Willis J.
Dawson D.
Willson J.K.V.
Gazdar A.F.
Hartigan J.
Wu L.
Liu C.
Parmigiani G.
Park B.H.
Bachman K.E.
Papadopoulos N.
Vogelstein B.
Kinzler K.W.
Velculescu V.E.
doi:10.1126/science.1133427
2006
Science
314
268-274
VARIANT [LARGE SCALE ANALYSIS] MET-686
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.
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.
Horn D.
doi:10.1016/j.ajhg.2012.05.004
2012
Am. J. Hum. Genet.
91
146-151
VARIANT HPMRS2 PHE-957
Vitamin B6-responsive epilepsy due to inherited GPI deficiency.
Kuki I.
Takahashi Y.
Okazaki S.
Kawawaki H.
Ehara E.
Inoue N.
Kinoshita T.
Murakami Y.
doi:10.1212/wnl.0b013e3182a8411a
2013
Neurology
81
1467-1469
VARIANT HPMRS2 TRP-119
CHARACTERIZATION OF VARIANT HPMRS2 TRP-119
FUNCTION
PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.
Nakamura K.
Osaka H.
Murakami Y.
Anzai R.
Nishiyama K.
Kodera H.
Nakashima M.
Tsurusaki Y.
Miyake N.
Kinoshita T.
Matsumoto N.
Saitsu H.
doi:10.1111/epi.12508
2014
Epilepsia
55
E13-E17
VARIANT ASN-130
Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.
Tanigawa J.
Mimatsu H.
Mizuno S.
Okamoto N.
Fukushi D.
Tominaga K.
Kidokoro H.
Muramatsu Y.
Nishi E.
Nakamura S.
Motooka D.
Nomura N.
Hayasaka K.
Niihori T.
Aoki Y.
Nabatame S.
Hayakawa M.
Natsume J.
Ozono K.
Kinoshita T.
Wakamatsu N.
Murakami Y.
doi:10.1002/humu.23219
2017
Hum. Mutat.
38
805-815
VARIANTS HPMRS2 LYS-344; SER-370; 430-GLN--ARG-1089 DEL AND GLU-1047
CHARACTERIZATION OF VARIANTS HPMRS2 TRP-119; LYS-344; SER-370; PHE-957 AND GLU-1047
CHARACTERIZATION OF ASN-130
FUNCTION
A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels.
Zehavi Y.
von Renesse A.
Daniel-Spiegel E.
Sapir Y.
Zalman L.
Chervinsky I.
Schuelke M.
Straussberg R.
Spiegel R.
doi:10.1007/s11011-017-0109-y
2017
Metab. Brain Dis.
32
2131-2137
VARIANT ILE-255
PIGO deficiency: palmoplantar keratoderma and novel mutations.
Morren M.A.
Jaeken J.
Visser G.
Salles I.
Van Geet C.
Simeoni I.
Turro E.
Freson K.
doi:10.1186/s13023-017-0654-9
2017
Orphanet J. Rare Dis.
12
101
VARIANT HPMRS2 PRO-871
Frameshift.
Frameshift.
Frameshift.
Sequence problems.
Different initiation.
Different initiation.
87
Glycosylphosphatidylinsitol ethanolamine-phosphate transferase III complex
17
1 site, No reported glycans
2 sites, 1 O-linked glycan (1 site)
158 antibodies from 23 providers
human
PIGO
Low tissue specificity
gene
phenotype
Hyperphosphatasia-intellectual disability syndrome
Eukaryota
Synthesis of glycosylphosphatidylinositol (GPI)
47 hits in 1167 CRISPR screens
human
Tbio
Protein
Expressed in mucosa of transverse colon and 187 other cell types or tissues
GPI_EPT_3
Alkaline Phosphatase, subunit A
Alkaline_phosphatase_core_sf
Phosphodiest/P_Trfase
PIG-O_N
PIGO/GPI13
GPI ETHANOLAMINE PHOSPHATE TRANSFERASE 3
PHOSPHATIDYLINOSITOL GLYCAN
Phosphodiest
Alkaline phosphatase-like
HS
GPI ethanolamine phosphate transferase 3
2.-.-.-
Phosphatidylinositol-glycan biosynthesis class O protein
PIG-O
PIGO
UNQ632/PRO1249
Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the GPI third mannose which links the GPI-anchor to the C-terminus of the proteins by an amide bond.
Forms a complex with PIGF. PIGF is required to stabilize PIGO (By similarity).
Additional isoforms seem to exist.
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the PIGG/PIGN/PIGO family. PIGO subfamily.
Truncated N-terminus.
Truncated N-terminus.
GPI ethanolamine phosphate transferase 3
118699
1
1089
Helical
4
24
Helical
457
477
Helical
482
502
Helical
510
530
Helical
541
561
Helical
575
595
Helical
668
688
Helical
701
721
Helical
747
767
Helical
830
850
Helical
857
877
Helical
944
964
Helical
1014
1034
Helical
1048
1068
N-linked (GlcNAc...) asparagine
268
In isoform 2.
449
865
In HPMRS2; decrease in mannose-ethanolamine phosphotransferase activity.
W
119
Found in a patient with epileptic encephalopathy; likely pathogenic; decrease in mannose-ethanolamine phosphotransferase activity; decreased protein expression.
N
130
Found in patients with severe infantile epileptic encephalopathy; uncertain significance.
I
255
In HPMRS2; uncertain significance; decrease in mannose-ethanolamine phosphotransferase activity; decreased protein expression.
K
344
In HPMRS2; decrease in mannose-ethanolamine phosphotransferase activity; decreased protein expression.
S
370
In HPMRS2.
430
In a colorectal cancer sample; somatic mutation.
M
686
In HPMRS2; uncertain significance.
P
871
In HPMRS2.
F
957
In HPMRS2; decrease in mannose-ethanolamine phosphotransferase activity; increased protein expression.
E
1047
ARG
179
181
EVSNQHV
225
231
W
350
Y
353
R
415
416
KYLSSDSLKDNSDVSSAPLVFKEVLLLMFLSLTEGPMPHTTRKVFLVSSLLPAIAKQIDPSCWFPGFMERRDKESSKTPCGNAASS
884
969
2005-03-15
3
118699
e6e8f9e0cce58ebf1075767ff9b20889
1
MQKASVLLFLAWVCFLFYAGIALFTSGFLLTRLELTNHSSCQEPPGPGSLPWGSQGKPGACWMASRFSRVVLVLIDALRFDFAQPQHSHVPREPPVSLPFLGKLSSLQRILEIQPHHARLYRSQVDPPTTTMQRLKALTTGSLPTFIDAGSNFASHAIVEDNLIKQLTSAGRRVVFMGDDTWKDLFPGAFSKAFFFPSFNVRDLDTVDNGILEHLYPTMDSGEWDVLIAHFLGVDHCGHKHGPHHPEMAKKLSQMDQVIQGLVERLENDTLLVVAGDHGMTTNGDHGGDSELEVSAALFLYSPTAVFPSTPPEEPEVIPQVSLVPTLALLLGLPIPFGNIGEVMAELFSGGEDSQPHSSALAQASALHLNAQQVSRFLHTYSAATQDLQAKELHQLQNLFSKASADYQWLLQSPKGAEATLPTVIAELQQFLRGARAMCIESWARFSLVRMAGGTALLAASCFICLLASQWAISPGFPFCPLLLTPVAWGLVGAIAYAGLLGTIELKLDLVLLGAVAAVSSFLPFLWKAWAGWGSKRPLATLFPIPGPVLLLLLFRLAVFFSDSFVVAEARATPFLLGSFILLLVVQLHWEGQLLPPKLLTMPRLGTSATTNPPRHNGAYALRLGIGLLLCTRLAGLFHRCPEETPVCHSSPWLSPLASMVGGRAKNLWYGACVAALVALLAAVRLWLRRYGNLKSPEPPMLFVRWGLPLMALGTAAYWALASGADEAPPRLRVLVSGASMVLPRAVAGLAASGLALLLWKPVTVLVKAGAGAPRTRTVLTPFSGPPTSQADLDYVVPQIYRHMQEEFRGRLERTKSQGPLTVAAYQLGSVYSAAMVTALTLLAFPLLLLHAERISLVFLLLFLQSFLLLHLLAAGIPVTTPGPFTVPWQAVSAWALMATQTFYSTGHQPVFPAIHWHAAFVGFPEGHGSCTWLPALLVGANTFASHLLFAVGCPLLLLWPFLCESQGLRKRQQPPGNEADARVRPEEEEEPLMEMRLRDAPQHFYAALLQLGLKYLFILGIQILACALAASILRRHLMVWKVFAPKFIFEAVGFIVSSVGLLLGIALVMRVDGAVSSWFRQLFLAQQR
2
MQKASVLLFLAWVCFLFYAGIALFTSGFLLTRLELTNHSSCQEPPGPGSLPWGSQGKPGACWMASRFSRVVLVLIDALRFDFAQPQHSHVPREPPVSLPFLGKLSSLQRILEIQPHHARLYRSQVDPPTTTMQRLKALTTGSLPTFIDAGSNFASHAIVEDNLIKQLTSAGRRVVFMGDDTWKDLFPGAFSKAFFFPSFNVRDLDTVDNGILEHLYPTMDSGEWDVLIAHFLGVDHCGHKHGPHHPEMAKKLSQMDQVIQGLVERLENDTLLVVAGDHGMTTNGDHGGDSELEVSAALFLYSPTAVFPSTPPEEPEVIPQVSLVPTLALLLGLPIPFGNIGEVMAELFSGGEDSQPHSSALAQASALHLNAQQVSRFLHTYSAATQDLQAKELHQLQNLFSKASADYQWLLQSPKGAEATLPTVIAELQQFLRGARAMCIESWARFSLSFLLLHLLAAGIPVTTPGPFTVPWQAVSAWALMATQTFYSTGHQPVFPAIHWHAAFVGFPEGHGSCTWLPALLVGANTFASHLLFAVGCPLLLLWPFLCESQGLRKRQQPPGNEADARVRPEEEEEPLMEMRLRDAPQHFYAALLQLGLKYLFILGIQILACALAASILRRHLMVWKVFAPKFIFEAVGFIVSSVGLLLGIALVMRVDGAVSSWFRQLFLAQQR
true
true
true
true
true
true
true
true
true
true
true
true
true
true