PIGP_HUMAN
ID PIGP_HUMAN Reviewed; 158 AA.
AC P57054; A0A0C4DH71; B2RB18; B2RE99; B5BU92; D3DSG7; J3KR75; Q53Y28; Q96KI1;
AC Q9NZA6;
DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT 28-MAR-2018, sequence version 4.
DT 03-AUG-2022, entry version 168.
DE RecName: Full=Phosphatidylinositol N-acetylglucosaminyltransferase subunit P {ECO:0000305};
DE AltName: Full=Down syndrome critical region protein 5;
DE AltName: Full=Down syndrome critical region protein C;
DE AltName: Full=Phosphatidylinositol-glycan biosynthesis class P protein;
DE Short=PIG-P;
GN Name=PIGP {ECO:0000312|HGNC:HGNC:3046}; Synonyms=DCRC, DSCR5, DSCRC;
GN ORFNames=NPD010;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A; B AND C).
RC TISSUE=Testis;
RX PubMed=10814524; DOI=10.1006/bbrc.2000.2685;
RA Shibuya K., Kudoh J., Minoshima S., Kawasaki K., Asakawa S., Shimizu N.;
RT "Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical
RT region on human chromosome 21q22.2.";
RL Biochem. Biophys. Res. Commun. 271:693-698(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A; B AND C).
RX PubMed=10907851; DOI=10.1093/dnares/7.3.207;
RA Togashi T., Choi D.-K., Taylor T.D., Suzuki Y., Sugano S., Hattori M.,
RA Sakaki Y.;
RT "A novel gene, DSCR5, from the distal Down syndrome critical region on
RT chromosome 21q22.2.";
RL DNA Res. 7:207-212(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 26-33, FUNCTION (ISOFORM
RP A), AND INTERACTION WITH PIGA AND PIGQ.
RX PubMed=10944123; DOI=10.1093/emboj/19.16.4402;
RA Watanabe R., Murakami Y., Marmor M.D., Inoue N., Maeda Y., Hino J.,
RA Kangawa K., Julius M., Kinoshita T.;
RT "Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-
RT P and is regulated by DPM2.";
RL EMBO J. 19:4402-4411(2000).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM B).
RC TISSUE=Pituitary;
RA Song H., Gao G., Peng Y., Ren S., Chen Z., Han Z.;
RL Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A).
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS A AND B).
RC TISSUE=Kidney, and Umbilical cord blood;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM C).
RX PubMed=19054851; DOI=10.1038/nmeth.1273;
RA Goshima N., Kawamura Y., Fukumoto A., Miura A., Honma R., Satoh R.,
RA Wakamatsu A., Yamamoto J., Kimura K., Nishikawa T., Andoh T., Iida Y.,
RA Ishikawa K., Ito E., Kagawa N., Kaminaga C., Kanehori K., Kawakami B.,
RA Kenmochi K., Kimura R., Kobayashi M., Kuroita T., Kuwayama H., Maruyama Y.,
RA Matsuo K., Minami K., Mitsubori M., Mori M., Morishita R., Murase A.,
RA Nishikawa A., Nishikawa S., Okamoto T., Sakagami N., Sakamoto Y.,
RA Sasaki Y., Seki T., Sono S., Sugiyama A., Sumiya T., Takayama T.,
RA Takayama Y., Takeda H., Togashi T., Yahata K., Yamada H., Yanagisawa Y.,
RA Endo Y., Imamoto F., Kisu Y., Tanaka S., Isogai T., Imai J., Watanabe S.,
RA Nomura N.;
RT "Human protein factory for converting the transcriptome into an in vitro-
RT expressed proteome.";
RL Nat. Methods 5:1011-1017(2008).
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10830953; DOI=10.1038/35012518;
RA Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S.,
RA Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M.,
RA Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A., Menzel U.,
RA Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A.,
RA Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J.,
RA Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K.,
RA Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G.,
RA Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J.,
RA Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S.,
RA Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K.,
RA Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.;
RT "The DNA sequence of human chromosome 21.";
RL Nature 405:311-319(2000).
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [10]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A).
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [11]
RP COMPONENT OF GPI-GNT COMPLEX, AND FUNCTION.
RX PubMed=16162815; DOI=10.1091/mbc.e05-08-0743;
RA Murakami Y., Siripanyaphinyo U., Hong Y., Tashima Y., Maeda Y.,
RA Kinoshita T.;
RT "The initial enzyme for glycosylphosphatidylinositol biosynthesis requires
RT PIG-Y, a seventh component.";
RL Mol. Biol. Cell 16:5236-5246(2005).
RN [12]
RP INVOLVEMENT IN DEE55, VARIANT DEE55 THR-25, CHARACTERIZATION OF VARIANT
RP DEE55 THR-25, AND FUNCTION.
RX PubMed=28334793; DOI=10.1093/hmg/ddx077;
RG Care4Rare Canada Consortium;
RA Johnstone D.L., Nguyen T.T., Murakami Y., Kernohan K.D., Tetreault M.,
RA Goldsmith C., Doja A., Wagner J.D., Huang L., Hartley T., St-Denis A.,
RA le Deist F., Majewski J., Bulman D.E., Kinoshita T., Dyment D.A.,
RA Boycott K.M., Campeau P.M.;
RT "Compound heterozygous mutations in the gene PIGP are associated with early
RT infantile epileptic encephalopathy.";
RL Hum. Mol. Genet. 26:1706-1715(2017).
CC -!- FUNCTION: Part of the glycosylphosphatidylinositol-N-
CC acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the
CC transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to
CC phosphatidylinositol and participates in the first step of GPI
CC biosynthesis. {ECO:0000269|PubMed:10944123,
CC ECO:0000269|PubMed:16162815, ECO:0000269|PubMed:28334793}.
CC -!- PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor
CC biosynthesis. {ECO:0000269|PubMed:10944123,
CC ECO:0000269|PubMed:16162815, ECO:0000269|PubMed:28334793}.
CC -!- SUBUNIT: Component of the glycosylphosphatidylinositol-N-
CC acetylglucosaminyltransferase (GPI-GnT) complex composed at least by
CC PIGA, PIGC, PIGH, PIGP, PIGQ, PIGY and DPM2 (PubMed:16162815).
CC Interacts directly with PIGA and PIGQ (PubMed:10944123).
CC {ECO:0000269|PubMed:10944123, ECO:0000269|PubMed:16162815}.
CC -!- INTERACTION:
CC P57054; Q8N5I4: DHRSX; NbExp=3; IntAct=EBI-17630288, EBI-3923585;
CC P57054; O14645: DNALI1; NbExp=3; IntAct=EBI-17630288, EBI-395638;
CC P57054; Q9Y3D6: FIS1; NbExp=3; IntAct=EBI-17630288, EBI-3385283;
CC P57054; Q9Y5U9: IER3IP1; NbExp=3; IntAct=EBI-17630288, EBI-725665;
CC P57054; P11215: ITGAM; NbExp=3; IntAct=EBI-17630288, EBI-2568251;
CC P57054; O14901: KLF11; NbExp=3; IntAct=EBI-17630288, EBI-948266;
CC P57054; Q86UP9: LHFPL3; NbExp=3; IntAct=EBI-17630288, EBI-12925734;
CC P57054; Q9NZG7: NINJ2; NbExp=3; IntAct=EBI-17630288, EBI-10317425;
CC P57054; Q9BVL2: NUP58; NbExp=3; IntAct=EBI-17630288, EBI-2811583;
CC P57054; P37287: PIGA; NbExp=5; IntAct=EBI-17630288, EBI-26643054;
CC P57054; P60201-2: PLP1; NbExp=3; IntAct=EBI-17630288, EBI-12188331;
CC P57054; Q04941: PLP2; NbExp=3; IntAct=EBI-17630288, EBI-608347;
CC P57054; P18031: PTPN1; NbExp=3; IntAct=EBI-17630288, EBI-968788;
CC P57054; Q8TAC9: SCAMP5; NbExp=3; IntAct=EBI-17630288, EBI-2695784;
CC P57054; Q0VAQ4: SMAGP; NbExp=3; IntAct=EBI-17630288, EBI-10226799;
CC P57054; C9JKN6: THSD7B; NbExp=3; IntAct=EBI-17630288, EBI-17192156;
CC P57054; Q6UX40: TMEM107; NbExp=3; IntAct=EBI-17630288, EBI-12845616;
CC P57054; Q96HH6: TMEM19; NbExp=3; IntAct=EBI-17630288, EBI-741829;
CC P57054; Q8NBD8: TMEM229B; NbExp=3; IntAct=EBI-17630288, EBI-12195227;
CC P57054; Q9Y5Z9: UBIAD1; NbExp=3; IntAct=EBI-17630288, EBI-2819725;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=B;
CC IsoId=P57054-1; Sequence=Displayed;
CC Name=A;
CC IsoId=P57054-2; Sequence=VSP_004202;
CC Name=C; Synonyms=DCRC-S;
CC IsoId=P57054-3; Sequence=VSP_004203, VSP_004204;
CC -!- TISSUE SPECIFICITY: Ubiquitous.
CC -!- DISEASE: Developmental and epileptic encephalopathy 55 (DEE55)
CC [MIM:617599]: A form of epileptic encephalopathy, a heterogeneous group
CC of severe early-onset epilepsies characterized by refractory seizures,
CC neurodevelopmental impairment, and poor prognosis. Development is
CC normal prior to seizure onset, after which cognitive and motor delays
CC become apparent. DEE55 is an autosomal recessive condition.
CC {ECO:0000269|PubMed:28334793}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the PIGP family. {ECO:0000305}.
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DR EMBL; AB037162; BAA96871.1; -; mRNA.
DR EMBL; AB037163; BAA96872.1; -; mRNA.
DR EMBL; AB037164; BAA96873.1; -; mRNA.
DR EMBL; AB035742; BAA95633.1; -; mRNA.
DR EMBL; AB035743; BAA95634.1; -; mRNA.
DR EMBL; AB035744; BAA95635.1; -; mRNA.
DR EMBL; AB035745; BAA95636.1; -; mRNA.
DR EMBL; AF216305; AAF32289.1; -; mRNA.
DR EMBL; AB039659; BAB12395.1; -; mRNA.
DR EMBL; AF237812; AAG09757.1; -; mRNA.
DR EMBL; BT007053; AAP35702.1; -; mRNA.
DR EMBL; AK314457; BAG37065.1; -; mRNA.
DR EMBL; AK316609; BAG38196.1; -; mRNA.
DR EMBL; AB451328; BAG70142.1; -; mRNA.
DR EMBL; AB451472; BAG70286.1; -; mRNA.
DR EMBL; AP000704; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP001429; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP001431; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP001727; BAA95512.1; -; Genomic_DNA.
DR EMBL; KC877872; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471079; EAX09724.1; -; Genomic_DNA.
DR EMBL; CH471079; EAX09725.1; -; Genomic_DNA.
DR EMBL; CH471079; EAX09727.1; -; Genomic_DNA.
DR EMBL; CH471079; EAX09726.1; -; Genomic_DNA.
DR EMBL; CH471079; EAX09728.1; -; Genomic_DNA.
DR EMBL; BC005180; AAH05180.1; -; mRNA.
DR EMBL; BC011007; AAH11007.1; -; mRNA.
DR CCDS; CCDS13649.1; -. [P57054-1]
DR CCDS; CCDS13650.1; -. [P57054-2]
DR CCDS; CCDS82670.1; -. [P57054-3]
DR PIR; JC7301; JC7301.
DR PIR; JC7302; JC7302.
DR RefSeq; NP_001307409.1; NM_001320480.1. [P57054-2]
DR RefSeq; NP_057514.2; NM_016430.3. [P57054-3]
DR RefSeq; NP_710148.1; NM_153681.2. [P57054-1]
DR RefSeq; NP_710149.1; NM_153682.2. [P57054-2]
DR RefSeq; XP_005261047.1; XM_005260990.4.
DR RefSeq; XP_011527898.1; XM_011529596.2.
DR RefSeq; XP_016883853.1; XM_017028364.1.
DR RefSeq; XP_016883854.1; XM_017028365.1. [P57054-3]
DR AlphaFoldDB; P57054; -.
DR BioGRID; 119391; 30.
DR ComplexPortal; CPX-6502; Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase complex.
DR IntAct; P57054; 24.
DR STRING; 9606.ENSP00000420037; -.
DR iPTMnet; P57054; -.
DR PhosphoSitePlus; P57054; -.
DR BioMuta; PIGP; -.
DR DMDM; 425906062; -.
DR EPD; P57054; -.
DR MassIVE; P57054; -.
DR PaxDb; P57054; -.
DR PeptideAtlas; P57054; -.
DR PRIDE; P57054; -.
DR ProteomicsDB; 56970; -. [P57054-1]
DR ProteomicsDB; 56971; -. [P57054-2]
DR ProteomicsDB; 56972; -. [P57054-3]
DR TopDownProteomics; P57054-2; -. [P57054-2]
DR TopDownProteomics; P57054-3; -. [P57054-3]
DR Antibodypedia; 8411; 129 antibodies from 23 providers.
DR DNASU; 51227; -.
DR Ensembl; ENST00000360525.9; ENSP00000353719.3; ENSG00000185808.14. [P57054-2]
DR Ensembl; ENST00000399098.5; ENSP00000382049.1; ENSG00000185808.14. [P57054-3]
DR Ensembl; ENST00000399102.5; ENSP00000382053.1; ENSG00000185808.14. [P57054-2]
DR Ensembl; ENST00000399103.5; ENSP00000382054.1; ENSG00000185808.14. [P57054-2]
DR Ensembl; ENST00000464265.5; ENSP00000420037.1; ENSG00000185808.14. [P57054-1]
DR GeneID; 51227; -.
DR KEGG; hsa:51227; -.
DR MANE-Select; ENST00000360525.9; ENSP00000353719.3; NM_153682.3; NP_710149.1. [P57054-2]
DR UCSC; uc002yvw.2; human. [P57054-1]
DR CTD; 51227; -.
DR DisGeNET; 51227; -.
DR GeneCards; PIGP; -.
DR HGNC; HGNC:3046; PIGP.
DR HPA; ENSG00000185808; Low tissue specificity.
DR MalaCards; PIGP; -.
DR MIM; 605938; gene.
DR MIM; 617599; phenotype.
DR neXtProt; NX_P57054; -.
DR OpenTargets; ENSG00000185808; -.
DR Orphanet; 1934; Early infantile epileptic encephalopathy.
DR PharmGKB; PA27498; -.
DR VEuPathDB; HostDB:ENSG00000185808; -.
DR eggNOG; KOG2257; Eukaryota.
DR GeneTree; ENSGT00390000013771; -.
DR HOGENOM; CLU_081616_2_1_1; -.
DR InParanoid; P57054; -.
DR OrthoDB; 1579862at2759; -.
DR PhylomeDB; P57054; -.
DR TreeFam; TF323799; -.
DR BRENDA; 2.4.1.198; 2681.
DR PathwayCommons; P57054; -.
DR Reactome; R-HSA-162710; Synthesis of glycosylphosphatidylinositol (GPI).
DR SignaLink; P57054; -.
DR UniPathway; UPA00196; -.
DR BioGRID-ORCS; 51227; 15 hits in 1066 CRISPR screens.
DR ChiTaRS; PIGP; human.
DR GeneWiki; PIGP; -.
DR GenomeRNAi; 51227; -.
DR Pharos; P57054; Tbio.
DR PRO; PR:P57054; -.
DR Proteomes; UP000005640; Chromosome 21.
DR RNAct; P57054; protein.
DR Bgee; ENSG00000185808; Expressed in corpus epididymis and 206 other tissues.
DR ExpressionAtlas; P57054; baseline and differential.
DR Genevisible; P57054; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IBA:GO_Central.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IDA:ComplexPortal.
DR GO; GO:0000506; C:glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex; IDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0017176; F:phosphatidylinositol N-acetylglucosaminyltransferase activity; IEA:InterPro.
DR GO; GO:0008194; F:UDP-glycosyltransferase activity; IBA:GO_Central.
DR GO; GO:0006506; P:GPI anchor biosynthetic process; IDA:UniProtKB.
DR InterPro; IPR013717; PIG-P.
DR InterPro; IPR016542; PIG-P_GPI19.
DR Pfam; PF08510; PIG-P; 1.
DR PIRSF; PIRSF008765; PIG-P_GPI19; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Direct protein sequencing; Disease variant; Epilepsy;
KW GPI-anchor biosynthesis; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..158
FT /note="Phosphatidylinositol N-acetylglucosaminyltransferase
FT subunit P"
FT /id="PRO_0000191783"
FT TRANSMEM 40..60
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 80..100
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..50
FT /note="Missing (in isoform C)"
FT /evidence="ECO:0000303|PubMed:10814524,
FT ECO:0000303|PubMed:10907851, ECO:0000303|PubMed:19054851"
FT /id="VSP_004203"
FT VAR_SEQ 1..24
FT /note="Missing (in isoform A)"
FT /evidence="ECO:0000303|PubMed:10814524,
FT ECO:0000303|PubMed:10907851, ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|Ref.5"
FT /id="VSP_004202"
FT VAR_SEQ 51..52
FT /note="FI -> MV (in isoform C)"
FT /evidence="ECO:0000303|PubMed:10814524,
FT ECO:0000303|PubMed:10907851, ECO:0000303|PubMed:19054851"
FT /id="VSP_004204"
FT VARIANT 9
FT /note="T -> A (in dbSNP:rs2507733)"
FT /id="VAR_061521"
FT VARIANT 25
FT /note="M -> T (in DEE55; reduced GPI-anchor biosynthetic
FT process; may affect expression of isoform A;
FT dbSNP:rs768633670)"
FT /evidence="ECO:0000269|PubMed:28334793"
FT /id="VAR_079291"
FT VARIANT 118
FT /note="Y -> C (in dbSNP:rs16994704)"
FT /id="VAR_050538"
FT VARIANT 136
FT /note="R -> S (in dbSNP:rs2276231)"
FT /id="VAR_050539"
FT CONFLICT 3
FT /note="P -> S (in Ref. 1; BAA96872)"
FT /evidence="ECO:0000305"
FT CONFLICT 90
FT /note="I -> V (in Ref. 1; BAA96873 and 2; AAF32289)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 158 AA; 18089 MW; 9309CEAC1DD777CF CRC64;
MVPRSTSLTL IVFLFHRLSK APGKMVENSP SPLPERAIYG FVLFLSSQFG FILYLVWAFI
PESWLNSLGL TYWPQKYWAV ALPVYLLIAI VIGYVLLFGI NMMSTSPLDS IHTITDNYAK
NQQQKKYQEE AIPALRDISI SEVNQMFFLA AKELYTKN
