PIGT_HUMAN
ID PIGT_HUMAN Reviewed; 578 AA.
AC Q969N2; B2RND5; B7Z3N1; B7Z7I8; E1P622; G8JLF5; Q2NL69; Q7Z3N7; Q9BQY7;
AC Q9BQY8; Q9UJG6; Q9Y2Z5;
DT 01-MAR-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 171.
DE RecName: Full=GPI transamidase component PIG-T;
DE AltName: Full=Phosphatidylinositol-glycan biosynthesis class T protein;
DE Flags: Precursor;
GN Name=PIGT; ORFNames=CGI-06, PSEC0163, UNQ716/PRO1379;
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] (ISOFORM 1), PROTEIN SEQUENCE OF 22-41,
RP FUNCTION, SUBUNIT, SUBCELLULAR LOCATION, AND MEMBRANE TOPOLOGY.
RX PubMed=11483512; DOI=10.1093/emboj/20.15.4088;
RA Ohishi K., Inoue N., Kinoshita T.;
RT "PIG-S and PIG-T, essential for GPI anchor attachment to proteins, form a
RT complex with GAA1 and GPI8.";
RL EMBO J. 20:4088-4098(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4 AND 5).
RC TISSUE=Testis, and Thalamus;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Placenta;
RX PubMed=16303743; DOI=10.1093/dnares/12.2.117;
RA Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J.,
RA Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S.,
RA Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.,
RA Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S.,
RA Isogai T.;
RT "Signal sequence and keyword trap in silico for selection of full-length
RT human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA
RT libraries.";
RL DNA Res. 12:117-126(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).
RC TISSUE=Signet-ring cell carcinoma;
RA Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y.,
RA Tanaka A., Yokoyama S.;
RT "Homo sapiens protein coding cDNA.";
RL Submitted (JUL-2006) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Amygdala;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [7]
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 [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain, Leukocyte, Skin, and Testis;
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 [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2-578 (ISOFORM 1).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [10]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3-578 (ISOFORM 1).
RX PubMed=10810093; DOI=10.1101/gr.10.5.703;
RA Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.;
RT "Identification of novel human genes evolutionarily conserved in
RT Caenorhabditis elegans by comparative proteomics.";
RL Genome Res. 10:703-713(2000).
RN [11]
RP DISULFIDE BOND FORMATION WITH PIGK/GPI8, AND MUTAGENESIS OF CYS-182.
RX PubMed=12582175; DOI=10.1074/jbc.m300586200;
RA Ohishi K., Nagamune K., Maeda Y., Kinoshita T.;
RT "Two subunits of glycosylphosphatidylinositol transamidase, GPI8 and PIG-T,
RT form a functionally important intermolecular disulfide bridge.";
RL J. Biol. Chem. 278:13959-13967(2003).
RN [12]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-164.
RC TISSUE=Liver;
RX PubMed=19159218; DOI=10.1021/pr8008012;
RA Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.;
RT "Glycoproteomics analysis of human liver tissue by combination of multiple
RT enzyme digestion and hydrazide chemistry.";
RL J. Proteome Res. 8:651-661(2009).
RN [13]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [14]
RP INVOLVEMENT IN PNH2.
RX PubMed=23733340; DOI=10.1182/blood-2013-01-481499;
RA Krawitz P.M., Hochsmann B., Murakami Y., Teubner B., Kruger U.,
RA Klopocki E., Neitzel H., Hoellein A., Schneider C., Parkhomchuk D.,
RA Hecht J., Robinson P.N., Mundlos S., Kinoshita T., Schrezenmeier H.;
RT "A case of paroxysmal nocturnal hemoglobinuria caused by a germline
RT mutation and a somatic mutation in PIGT.";
RL Blood 122:1312-1315(2013).
RN [15]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
RN [16]
RP VARIANT MCAHS3 PRO-183.
RX PubMed=23636107; DOI=10.1136/jmedgenet-2013-101654;
RA Kvarnung M., Nilsson D., Lindstrand A., Korenke G.C., Chiang S.C.,
RA Blennow E., Bergmann M., Stodberg T., Makitie O., Anderlid B.M.,
RA Bryceson Y.T., Nordenskjold M., Nordgren A.;
RT "A novel intellectual disability syndrome caused by GPI anchor deficiency
RT due to homozygous mutations in PIGT.";
RL J. Med. Genet. 50:521-528(2013).
CC -!- FUNCTION: Component of the GPI transamidase complex. Essential for
CC transfer of GPI to proteins, particularly for formation of carbonyl
CC intermediates. {ECO:0000269|PubMed:11483512}.
CC -!- PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor
CC biosynthesis.
CC -!- SUBUNIT: Forms a complex with PIGK/GPI8, PIGS, PIGU and GPAA1/GAA1. Has
CC a critical role in maintaining the complex by stabilizing the
CC expression of GPAA1 and GPI8 and linking them to PIGS.
CC {ECO:0000269|PubMed:11483512}.
CC -!- INTERACTION:
CC Q969N2; O43292: GPAA1; NbExp=11; IntAct=EBI-726383, EBI-720225;
CC Q969N2; Q92643: PIGK; NbExp=10; IntAct=EBI-726383, EBI-8617711;
CC Q969N2; Q96S52: PIGS; NbExp=11; IntAct=EBI-726383, EBI-2908273;
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
CC {ECO:0000269|PubMed:11483512}; Single-pass type I membrane protein
CC {ECO:0000269|PubMed:11483512}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Name=1;
CC IsoId=Q969N2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q969N2-2; Sequence=VSP_009537;
CC Name=3;
CC IsoId=Q969N2-3; Sequence=VSP_009536, VSP_009539, VSP_009540;
CC Name=4;
CC IsoId=Q969N2-4; Sequence=VSP_009538;
CC Name=5;
CC IsoId=Q969N2-5; Sequence=VSP_043167;
CC Name=6;
CC IsoId=Q969N2-6; Sequence=VSP_009540;
CC -!- PTM: The disulfide bond between PIGK/GPI8 and PIGT is important for
CC normal enzyme activity.
CC -!- DISEASE: Multiple congenital anomalies-hypotonia-seizures syndrome 3
CC (MCAHS3) [MIM:615398]: An autosomal recessive syndrome characterized by
CC distinct facial features, intellectual disability, hypotonia and
CC seizures, in combination with abnormal skeletal, endocrine, and
CC ophthalmologic findings including impaired vision, as well as abnormal
CC motility of the eyes. {ECO:0000269|PubMed:23636107}. Note=The disease
CC is caused by variants affecting the gene represented in this entry.
CC -!- DISEASE: Paroxysmal nocturnal hemoglobinuria 2 (PNH2) [MIM:615399]: A
CC disorder characterized by hemolytic anemia with hemoglobinuria,
CC thromboses in large vessels, and a deficiency in hematopoiesis. Red
CC blood cell breakdown with release of hemoglobin into the urine is
CC manifested most prominently by dark-colored urine in the morning.
CC {ECO:0000269|PubMed:23733340}. Note=Disease susceptibility is
CC associated with variants affecting the gene represented in this entry.
CC -!- MISCELLANEOUS: [Isoform 3]: May be due to intron retention.
CC {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the PIGT family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAD27715.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=AAQ88951.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=CAB57341.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AB057724; BAB60854.1; -; mRNA.
DR EMBL; AK296139; BAH12267.1; -; mRNA.
DR EMBL; AK302093; BAH13624.1; -; mRNA.
DR EMBL; AK075469; BAC11639.1; -; mRNA.
DR EMBL; AK225517; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BX537612; CAD97799.1; -; mRNA.
DR EMBL; AL121742; CAB57341.1; ALT_INIT; mRNA.
DR EMBL; AL021578; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471077; EAW75844.1; -; Genomic_DNA.
DR EMBL; CH471077; EAW75845.1; -; Genomic_DNA.
DR EMBL; CH471077; EAW75846.1; -; Genomic_DNA.
DR EMBL; BC015022; AAH15022.3; -; mRNA.
DR EMBL; BC110892; AAI10893.1; -; mRNA.
DR EMBL; BC136827; AAI36828.1; -; mRNA.
DR EMBL; BC136828; AAI36829.1; -; mRNA.
DR EMBL; AY358588; AAQ88951.1; ALT_INIT; mRNA.
DR EMBL; AF132940; AAD27715.1; ALT_FRAME; mRNA.
DR CCDS; CCDS13353.1; -. [Q969N2-1]
DR CCDS; CCDS54464.1; -. [Q969N2-5]
DR CCDS; CCDS54465.1; -. [Q969N2-6]
DR CCDS; CCDS54466.1; -. [Q969N2-4]
DR RefSeq; NP_001171657.1; NM_001184728.2. [Q969N2-5]
DR RefSeq; NP_001171658.1; NM_001184729.2. [Q969N2-6]
DR RefSeq; NP_001171659.1; NM_001184730.2. [Q969N2-4]
DR RefSeq; NP_057021.2; NM_015937.5. [Q969N2-1]
DR PDB; 7W72; EM; 3.10 A; T=27-552.
DR PDBsum; 7W72; -.
DR AlphaFoldDB; Q969N2; -.
DR SMR; Q969N2; -.
DR BioGRID; 119633; 233.
DR ComplexPortal; CPX-6503; GPI-anchor transamidase complex.
DR CORUM; Q969N2; -.
DR IntAct; Q969N2; 49.
DR MINT; Q969N2; -.
DR STRING; 9606.ENSP00000279036; -.
DR GlyConnect; 1286; 2 N-Linked glycans (1 site).
DR GlyGen; Q969N2; 4 sites, 4 N-linked glycans (1 site).
DR iPTMnet; Q969N2; -.
DR PhosphoSitePlus; Q969N2; -.
DR SwissPalm; Q969N2; -.
DR BioMuta; PIGT; -.
DR DMDM; 44888284; -.
DR CPTAC; CPTAC-1499; -.
DR EPD; Q969N2; -.
DR jPOST; Q969N2; -.
DR MassIVE; Q969N2; -.
DR MaxQB; Q969N2; -.
DR PaxDb; Q969N2; -.
DR PeptideAtlas; Q969N2; -.
DR PRIDE; Q969N2; -.
DR ProteomicsDB; 34213; -.
DR ProteomicsDB; 75800; -. [Q969N2-1]
DR ProteomicsDB; 75801; -. [Q969N2-2]
DR ProteomicsDB; 75802; -. [Q969N2-3]
DR ProteomicsDB; 75803; -. [Q969N2-4]
DR ProteomicsDB; 75804; -. [Q969N2-5]
DR Antibodypedia; 27619; 154 antibodies from 24 providers.
DR DNASU; 51604; -.
DR Ensembl; ENST00000279035.14; ENSP00000279035.8; ENSG00000124155.19. [Q969N2-4]
DR Ensembl; ENST00000279036.12; ENSP00000279036.6; ENSG00000124155.19. [Q969N2-1]
DR Ensembl; ENST00000372689.9; ENSP00000361774.4; ENSG00000124155.19. [Q969N2-6]
DR Ensembl; ENST00000543458.7; ENSP00000441577.1; ENSG00000124155.19. [Q969N2-5]
DR Ensembl; ENST00000545755.3; ENSP00000443963.3; ENSG00000124155.19. [Q969N2-2]
DR GeneID; 51604; -.
DR KEGG; hsa:51604; -.
DR MANE-Select; ENST00000279036.12; ENSP00000279036.6; NM_015937.6; NP_057021.2.
DR UCSC; uc002xoh.4; human. [Q969N2-1]
DR CTD; 51604; -.
DR DisGeNET; 51604; -.
DR GeneCards; PIGT; -.
DR HGNC; HGNC:14938; PIGT.
DR HPA; ENSG00000124155; Low tissue specificity.
DR MalaCards; PIGT; -.
DR MIM; 610272; gene.
DR MIM; 615398; phenotype.
DR MIM; 615399; phenotype.
DR neXtProt; NX_Q969N2; -.
DR OpenTargets; ENSG00000124155; -.
DR Orphanet; 369837; Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome.
DR PharmGKB; PA33302; -.
DR VEuPathDB; HostDB:ENSG00000124155; -.
DR eggNOG; KOG2407; Eukaryota.
DR GeneTree; ENSGT00390000018558; -.
DR HOGENOM; CLU_021459_0_1_1; -.
DR InParanoid; Q969N2; -.
DR OMA; LWAWIDA; -.
DR OrthoDB; 887370at2759; -.
DR PhylomeDB; Q969N2; -.
DR TreeFam; TF105921; -.
DR PathwayCommons; Q969N2; -.
DR Reactome; R-HSA-162791; Attachment of GPI anchor to uPAR.
DR SignaLink; Q969N2; -.
DR UniPathway; UPA00196; -.
DR BioGRID-ORCS; 51604; 16 hits in 1077 CRISPR screens.
DR ChiTaRS; PIGT; human.
DR GeneWiki; PIGT; -.
DR GenomeRNAi; 51604; -.
DR Pharos; Q969N2; Tbio.
DR PRO; PR:Q969N2; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q969N2; protein.
DR Bgee; ENSG00000124155; Expressed in cardia of stomach and 178 other tissues.
DR ExpressionAtlas; Q969N2; baseline and differential.
DR Genevisible; Q969N2; HS.
DR GO; GO:0031410; C:cytoplasmic vesicle; IEA:Ensembl.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; TAS:Reactome.
DR GO; GO:0042765; C:GPI-anchor transamidase complex; IDA:UniProtKB.
DR GO; GO:0030176; C:integral component of endoplasmic reticulum membrane; NAS:UniProtKB.
DR GO; GO:0016020; C:membrane; HDA:UniProtKB.
DR GO; GO:0016255; P:attachment of GPI anchor to protein; IBA:GO_Central.
DR GO; GO:0051402; P:neuron apoptotic process; IEA:Ensembl.
DR GO; GO:0030182; P:neuron differentiation; IEA:Ensembl.
DR InterPro; IPR007245; PIG-T.
DR PANTHER; PTHR12959; PTHR12959; 1.
DR Pfam; PF04113; Gpi16; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Direct protein sequencing;
KW Disease variant; Disulfide bond; Endoplasmic reticulum; Epilepsy;
KW Glycoprotein; GPI-anchor biosynthesis; Membrane; Reference proteome;
KW Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..21
FT /evidence="ECO:0000269|PubMed:11483512"
FT CHAIN 22..578
FT /note="GPI transamidase component PIG-T"
FT /id="PRO_0000024107"
FT TOPO_DOM 22..527
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 528..548
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 549..578
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT CARBOHYD 164
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000269|PubMed:19159218"
FT CARBOHYD 291
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 327
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 182
FT /note="Interchain (with C-92 in PIGK/GPI8)"
FT /evidence="ECO:0000269|PubMed:12582175"
FT VAR_SEQ 1..144
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_009536"
FT VAR_SEQ 63..256
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_009537"
FT VAR_SEQ 63..164
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_009538"
FT VAR_SEQ 109..164
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043167"
FT VAR_SEQ 145..164
FT /note="IDSTNTVTPTASFKPLGLAN -> MWIPRGQSPRPTPDRPLSPS (in
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_009539"
FT VAR_SEQ 345..412
FT /note="EAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLY
FT VHTLTITSKGKENKPS -> G (in isoform 3 and isoform 6)"
FT /evidence="ECO:0000303|PubMed:17974005, ECO:0000303|Ref.4"
FT /id="VSP_009540"
FT VARIANT 183
FT /note="T -> P (in MCAHS3; flow cytometric analysis of
FT patient granulocytes and monocytes show decreased amounts
FT of GPI-anchored proteins CD16B and CD59 compared to
FT controls; dbSNP:rs587777027)"
FT /evidence="ECO:0000269|PubMed:23636107"
FT /id="VAR_070448"
FT VARIANT 473
FT /note="A -> T (in dbSNP:rs36056071)"
FT /id="VAR_053583"
FT MUTAGEN 182
FT /note="C->S: Decrease in activity."
FT /evidence="ECO:0000269|PubMed:12582175"
SQ SEQUENCE 578 AA; 65700 MW; AC7865160CFBCBBA CRC64;
MAAAMPLALL VLLLLGPGGW CLAEPPRDSL REELVITPLP SGDVAATFQF RTRWDSELQR
EGVSHYRLFP KALGQLISKY SLRELHLSFT QGFWRTRYWG PPFLQAPSGA ELWVWFQDTV
TDVDKSWKEL SNVLSGIFCA SLNFIDSTNT VTPTASFKPL GLANDTDHYF LRYAVLPREV
VCTENLTPWK KLLPCSSKAG LSVLLKADRL FHTSYHSQAV HIRPVCRNAR CTSISWELRQ
TLSVVFDAFI TGQGKKDWSL FRMFSRTLTE PCPLASESRV YVDITTYNQD NETLEVHPPP
TTTYQDVILG TRKTYAIYDL LDTAMINNSR NLNIQLKWKR PPENEAPPVP FLHAQRYVSG
YGLQKGELST LLYNTHPYRA FPVLLLDTVP WYLRLYVHTL TITSKGKENK PSYIHYQPAQ
DRLQPHLLEM LIQLPANSVT KVSIQFERAL LKWTEYTPDP NHGFYVSPSV LSALVPSMVA
AKPVDWEESP LFNSLFPVSD GSNYFVRLYT EPLLVNLPTP DFSMPYNVIC LTCTVVAVCY
GSFYNLLTRT FHIEEPRTGG LAKRLANLIR RARGVPPL
