LOCUS       NM_015937               2168 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens phosphatidylinositol glycan anchor biosynthesis class
            T (PIGT), transcript variant 1, mRNA.
ACCESSION   NM_015937
VERSION     NM_015937.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2168)
  AUTHORS   Wu,F., Goldenberg,P.C. and Mukai,S.
  TITLE     Bilateral anterior segment dysgenesis and peripheral avascular
            retina with tractional retinal detachment in an infant with
            multiple congenital anomalies-hypotony-seizures syndrome 3
  JOURNAL   Ophthalmic Genet 42 (3), 334-337 (2021)
   PUBMED   33620284
  REMARK    GeneRIF: Bilateral anterior segment dysgenesis and peripheral
            avascular retina with tractional retinal detachment in an infant
            with multiple congenital anomalies-hypotony-seizures syndrome 3.
REFERENCE   2  (bases 1 to 2168)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 2168)
  AUTHORS   Jezela-Stanek,A., Szczepanik,E., Mierzewska,H., Rydzanicz,M.,
            Rutkowska,K., Knaus,A., Smigiel,R., Stepniak,I., Markiewicz,M.G.,
            Boniel,S., Krawitz,P. and Ploski,R.
  TITLE     Evidence of the milder phenotypic spectrum of c.1582G>A PIGT
            variant: Delineation based on seven novel Polish patients
  JOURNAL   Clin Genet 98 (5), 468-476 (2020)
   PUBMED   32725661
  REMARK    GeneRIF: Evidence of the milder phenotypic spectrum of c.1582G>A
            PIGT variant: Delineation based on seven novel Polish patients.
REFERENCE   4  (bases 1 to 2168)
  AUTHORS   Kohashi,K., Ishiyama,A., Yuasa,S., Tanaka,T., Miya,K., Adachi,Y.,
            Sato,N., Saitsu,H., Ohba,C., Matsumoto,N., Murakami,Y.,
            Kinoshita,T., Sugai,K. and Sasaki,M.
  TITLE     Epileptic apnea in a patient with inherited
            glycosylphosphatidylinositol anchor deficiency and PIGT mutations
  JOURNAL   Brain Dev 40 (1), 53-57 (2018)
   PUBMED   28728837
  REMARK    GeneRIF: Whole-exome sequencing revealed compound heterozygous
            mutations (c.250G > T, p.Glu84X and c.1096G > T, p.Gly366Trp) in
            PIGT (NM_015937.5), which were confirmed using Sanger sequencing.
            Thus inherited GPI anchor deficiency associated with these PIGT
            mutations was diagnosed
REFERENCE   5  (bases 1 to 2168)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 2168)
  AUTHORS   Ohishi,K., Nagamune,K., Maeda,Y. and Kinoshita,T.
  TITLE     Two subunits of glycosylphosphatidylinositol transamidase, GPI8 and
            PIG-T, form a functionally important intermolecular disulfide
            bridge
  JOURNAL   J Biol Chem 278 (16), 13959-13967 (2003)
   PUBMED   12582175
  REMARK    GeneRIF: GPI8 and PIG-T form a functionally important
            intermolecular disulfide bridge
REFERENCE   7  (bases 1 to 2168)
  AUTHORS   Vainauskas,S., Maeda,Y., Kurniawan,H., Kinoshita,T. and Menon,A.K.
  TITLE     Structural requirements for the recruitment of Gaa1 into a
            functional glycosylphosphatidylinositol transamidase complex
  JOURNAL   J Biol Chem 277 (34), 30535-30542 (2002)
   PUBMED   12052837
REFERENCE   8  (bases 1 to 2168)
  AUTHORS   Ohishi,K., Inoue,N. and Kinoshita,T.
  TITLE     PIG-S and PIG-T, essential for GPI anchor attachment to proteins,
            form a complex with GAA1 and GPI8
  JOURNAL   EMBO J 20 (15), 4088-4098 (2001)
   PUBMED   11483512
REFERENCE   9  (bases 1 to 2168)
  AUTHORS   Fossey,S.C., Mychaleckyj,J.C., Pendleton,J.K., Snyder,J.R.,
            Bensen,J.T., Hirakawa,S., Rich,S.S., Freedman,B.I. and Bowden,D.W.
  TITLE     A high-resolution 6.0-megabase transcript map of the type 2
            diabetes susceptibility region on human chromosome 20
  JOURNAL   Genomics 76 (1-3), 45-57 (2001)
   PUBMED   11549316
REFERENCE   10 (bases 1 to 2168)
  AUTHORS   Ploug,M., Ronne,E., Behrendt,N., Jensen,A.L., Blasi,F. and Dano,K.
  TITLE     Cellular receptor for urokinase plasminogen activator.
            Carboxyl-terminal processing and membrane anchoring by
            glycosyl-phosphatidylinositol
  JOURNAL   J Biol Chem 266 (3), 1926-1933 (1991)
   PUBMED   1846368
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC136827.1 and AL121742.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_015937.5.
            
            Summary: This gene encodes a protein that is involved in
            glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The
            GPI-anchor is a glycolipid found on many blood cells and serves to
            anchor proteins to the cell surface. This protein is an essential
            component of the multisubunit enzyme, GPI transamidase. GPI
            transamidase mediates GPI anchoring in the endoplasmic reticulum,
            by catalyzing the transfer of fully assembled GPI units to
            proteins. Alternatively spliced transcript variants encoding
            multiple isoforms have been observed for this gene. [provided by
            RefSeq, May 2012].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC015022.1, SRR3476690.222865.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000279036.12/ ENSP00000279036.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1869              BC136827.1         13-1881
            1870-2168           AL121742.1         1847-2145
FEATURES             Location/Qualifiers
     source          1..2168
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     gene            1..2168
                     /gene="PIGT"
                     /gene_synonym="CGI-06; MCAHS3; NDAP; PIG-T; PNH2"
                     /note="phosphatidylinositol glycan anchor biosynthesis
                     class T"
                     /db_xref="GeneID:51604"
                     /db_xref="HGNC:HGNC:14938"
                     /db_xref="MIM:610272"
     exon            1..203
                     /gene="PIGT"
                     /gene_synonym="CGI-06; MCAHS3; NDAP; PIG-T; PNH2"
                     /inference="alignment:Splign:2.1.0"
     CDS             17..1753
                     /gene="PIGT"
                     /gene_synonym="CGI-06; MCAHS3; NDAP; PIG-T; PNH2"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; neurotrophin-regulated neuronal
                     development-associated protein; GPI transamidase subunit;
                     GPI transamidase component PIG-T;
                     phosphatidylinositol-glycan biosynthesis class T protein"
                     /codon_start=1
                     /product="GPI transamidase component PIG-T isoform 1
                     precursor"
                     /protein_id="NP_057021.2"
                     /db_xref="CCDS:CCDS13353.1"
                     /db_xref="GeneID:51604"
                     /db_xref="HGNC:HGNC:14938"
                     /db_xref="MIM:610272"
                     /translation="MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDV
                     AATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPP
                     FLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPL
                     GLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQ
                     AVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLAS
                     ESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNI
                     QLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWY
                     LRLYVHTLTITSKGKENKPSYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERAL
                     LKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGSNYFVRL
                     YTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPRTGGLAKRLA
                     NLIRRARGVPPL"
     exon            204..381
                     /gene="PIGT"
                     /gene_synonym="CGI-06; MCAHS3; NDAP; PIG-T; PNH2"
                     /inference="alignment:Splign:2.1.0"
     exon            382..509
                     /gene="PIGT"
                     /gene_synonym="CGI-06; MCAHS3; NDAP; PIG-T; PNH2"
                     /inference="alignment:Splign:2.1.0"
     exon            510..610
                     /gene="PIGT"
                     /gene_synonym="CGI-06; MCAHS3; NDAP; PIG-T; PNH2"
                     /inference="alignment:Splign:2.1.0"
     exon            611..697
                     /gene="PIGT"
                     /gene_synonym="CGI-06; MCAHS3; NDAP; PIG-T; PNH2"
                     /inference="alignment:Splign:2.1.0"
     exon            698..785
                     /gene="PIGT"
                     /gene_synonym="CGI-06; MCAHS3; NDAP; PIG-T; PNH2"
                     /inference="alignment:Splign:2.1.0"
     exon            786..883
                     /gene="PIGT"
                     /gene_synonym="CGI-06; MCAHS3; NDAP; PIG-T; PNH2"
                     /inference="alignment:Splign:2.1.0"
     exon            884..1049
                     /gene="PIGT"
                     /gene_synonym="CGI-06; MCAHS3; NDAP; PIG-T; PNH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1050..1250
                     /gene="PIGT"
                     /gene_synonym="CGI-06; MCAHS3; NDAP; PIG-T; PNH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1251..1416
                     /gene="PIGT"
                     /gene_synonym="CGI-06; MCAHS3; NDAP; PIG-T; PNH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1417..1500
                     /gene="PIGT"
                     /gene_synonym="CGI-06; MCAHS3; NDAP; PIG-T; PNH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1501..2168
                     /gene="PIGT"
                     /gene_synonym="CGI-06; MCAHS3; NDAP; PIG-T; PNH2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2147..2152
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIGT"
                     /gene_synonym="CGI-06; MCAHS3; NDAP; PIG-T; PNH2"
                     /note="hexamer: AATAAA"
     polyA_site      2168
                     /gene="PIGT"
                     /gene_synonym="CGI-06; MCAHS3; NDAP; PIG-T; PNH2"
                     /note="major polyA site"
ORIGIN      
        1 ggaagtagcc gcaggcatgg cggcggctat gccgcttgct ctgctcgtcc tgttgctcct
       61 ggggcccggc ggctggtgcc ttgcagaacc cccacgcgac agcctgcggg aggaacttgt
      121 catcaccccg ctgccttccg gggacgtagc cgccacattc cagttccgca cgcgctggga
      181 ttcggagctt cagcgggaag gagtgtccca ttacaggctc tttcccaaag ccctggggca
      241 gctgatctcc aagtattctc tacgggagct gcacctgtca ttcacacaag gcttttggag
      301 gacccgatac tgggggccac ccttcctgca ggccccatca ggtgcagagc tgtgggtctg
      361 gttccaagac actgtcactg atgtggataa atcttggaag gagctcagta atgtcctctc
      421 agggatcttc tgcgcctctc tcaacttcat cgactccacc aacacagtca ctcccactgc
      481 ctccttcaaa cccctgggtc tggccaatga cactgaccac tactttctgc gctatgctgt
      541 gctgccgcgg gaggtggtct gcaccgaaaa cctcaccccc tggaagaagc tcttgccctg
      601 tagttccaag gcaggcctct ctgtgctgct gaaggcagat cgcttgttcc acaccagcta
      661 ccactcccag gcagtgcata tccgccctgt ttgcagaaat gcacgctgta ctagcatctc
      721 ctgggagctg aggcagaccc tgtcagttgt atttgatgcc ttcatcacgg ggcagggaaa
      781 gaaagactgg tccctcttcc ggatgttctc ccgaaccctc acggagccct gccccctggc
      841 ttcagagagc cgagtctatg tggacatcac cacctacaac caggacaacg agacattaga
      901 ggtgcaccca cccccgacca ctacatatca ggacgtcatc ctaggcactc ggaagaccta
      961 tgccatctat gacttgcttg acaccgccat gatcaacaac tctcgaaacc tcaacatcca
     1021 gctcaagtgg aagagacccc cagagaatga ggccccccca gtgcccttcc tgcatgccca
     1081 gcggtacgtg agtggctatg ggctgcagaa gggggagctg agcacactgc tgtacaacac
     1141 ccacccatac cgggccttcc cggtgctgct gctggacacc gtaccctggt atctgcggct
     1201 gtatgtgcac accctcacca tcacctccaa gggcaaggag aacaaaccaa gttacatcca
     1261 ctaccagcct gcccaggacc ggctgcaacc ccacctcctg gagatgctga ttcagctgcc
     1321 ggccaactca gtcaccaagg tttccatcca gtttgagcgg gcgctgctga agtggaccga
     1381 gtacacgcca gatcctaacc atggcttcta tgtcagccca tctgtcctca gcgcccttgt
     1441 gcccagcatg gtagcagcca agccagtgga ctgggaagag agtcccctct tcaacagcct
     1501 gttcccagtc tctgatggct ctaactactt tgtgcggctc tacacggagc cgctgctggt
     1561 gaacctgccg acaccggact tcagcatgcc ctacaacgtg atctgcctca cgtgcactgt
     1621 ggtggccgtg tgctatggct ccttctacaa tctcctcacc cgaaccttcc acatcgagga
     1681 gccccgcaca ggtggcctgg ccaagcggct ggccaacctt atccggcgcg cccgaggtgt
     1741 ccccccactc tgattcttgc cctttccagc agctgcagct gccgtttctc tctggggagg
     1801 ggagcccaag ggctgtttct gccacttgct ctcctcagag ttggcttttg aaccaaagtg
     1861 ccctggacca ggtcagggcc tacagctgtg ttgtccagta caggagccac gagccaaatg
     1921 tggcatttga atttgaatta acttagaaat tcatttcctc acctgtagtg gccacctcta
     1981 tattgaggtg ctcaataagc aaaagtggtc ggtggctgct gtattggaca gcacagaaaa
     2041 agatttccat caccacagaa aggtcggctg gcagcactgg ccaaggtgat ggggtgtgct
     2101 acacagtgta tgtcactgtg tagtggatgg agtttactgt ttgtggaata aaaacggctg
     2161 tttccgtg
//
