LOCUS       NM_033198               2529 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens phosphatidylinositol glycan anchor biosynthesis class
            S (PIGS), mRNA.
ACCESSION   NM_033198
VERSION     NM_033198.4
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 2529)
  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   2  (bases 1 to 2529)
  AUTHORS   Efthymiou,S., Dutra-Clarke,M., Maroofian,R., Kaiyrzhanov,R.,
            Scala,M., Reza Alvi,J., Sultan,T., Christoforou,M., Tuyet Mai
            Nguyen,T., Mankad,K., Vona,B., Rad,A., Striano,P., Salpietro,V.,
            Guillen Sacoto,M.J., Zaki,M.S., Gleeson,J.G., Campeau,P.M.,
            Russell,B.E. and Houlden,H.
  TITLE     Expanding the phenotype of PIGS-associated early onset epileptic
            developmental encephalopathy
  JOURNAL   Epilepsia 62 (2), e35-e41 (2021)
   PUBMED   33410539
  REMARK    GeneRIF: Expanding the phenotype of PIGS-associated early onset
            epileptic developmental encephalopathy.
REFERENCE   3  (bases 1 to 2529)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2529)
  AUTHORS   Nguyen,T.T.M., Murakami,Y., Wigby,K.M., Baratang,N.V., Rousseau,J.,
            St-Denis,A., Rosenfeld,J.A., Laniewski,S.C., Jones,J.,
            Iglesias,A.D., Jones,M.C., Masser-Frye,D., Scheuerle,A.E.,
            Perry,D.L., Taft,R.J., Le Deist,F., Thompson,M., Kinoshita,T. and
            Campeau,P.M.
  TITLE     Mutations in PIGS, Encoding a GPI Transamidase, Cause a
            Neurological Syndrome Ranging from Fetal Akinesia to Epileptic
            Encephalopathy
  JOURNAL   Am J Hum Genet 103 (4), 602-611 (2018)
   PUBMED   30269814
  REMARK    GeneRIF: By describing the consequences of PIGS disruption in
            humans and extending the family of IGDs.
REFERENCE   5  (bases 1 to 2529)
  AUTHORS   Ghosh,D., Lippert,D., Krokhin,O., Cortens,J.P. and Wilkins,J.A.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   6  (bases 1 to 2529)
  AUTHORS   Hong,Y., Ohishi,K., Kang,J.Y., Tanaka,S., Inoue,N., Nishimura,J.,
            Maeda,Y. and Kinoshita,T.
  TITLE     Human PIG-U and yeast Cdc91p are the fifth subunit of GPI
            transamidase that attaches GPI-anchors to proteins
  JOURNAL   Mol Biol Cell 14 (5), 1780-1789 (2003)
   PUBMED   12802054
REFERENCE   7  (bases 1 to 2529)
  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
REFERENCE   8  (bases 1 to 2529)
  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   9  (bases 1 to 2529)
  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   10 (bases 1 to 2529)
  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 AK075428.1, BC007301.1,
            AW084841.1 and AC005726.1.
            
            On Nov 22, 2018 this sequence version replaced NM_033198.3.
            
            Summary: This gene encodes a protein that is involved in GPI-anchor
            biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a
            glycolipid found on many blood cells and serves to anchor proteins
            to the cell surface. This gene encodes 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. [provided by
            RefSeq, Jul 2008].
            
            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 :: BC069228.1, SRR3476690.865340.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000308360.8/ ENSP00000309430.7
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-800               AK075428.1         1-800
            801-2276            BC007301.1         530-2005
            2277-2528           AW084841.1         1-252               c
            2529-2529           AC005726.1         104425-104425
FEATURES             Location/Qualifiers
     source          1..2529
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     gene            1..2529
                     /gene="PIGS"
                     /gene_synonym="DEE95; GPIBD18; PIG-S"
                     /note="phosphatidylinositol glycan anchor biosynthesis
                     class S"
                     /db_xref="GeneID:94005"
                     /db_xref="HGNC:HGNC:14937"
                     /db_xref="MIM:610271"
     exon            1..62
                     /gene="PIGS"
                     /gene_synonym="DEE95; GPIBD18; PIG-S"
                     /inference="alignment:Splign:2.1.0"
     CDS             29..1696
                     /gene="PIGS"
                     /gene_synonym="DEE95; GPIBD18; PIG-S"
                     /note="GPI transamidase subunit; phosphatidylinositol
                     glycan, class S; phosphatidylinositol-glycan biosynthesis
                     class S protein"
                     /codon_start=1
                     /product="GPI transamidase component PIG-S"
                     /protein_id="NP_149975.1"
                     /db_xref="CCDS:CCDS11235.1"
                     /db_xref="GeneID:94005"
                     /db_xref="HGNC:HGNC:14937"
                     /db_xref="MIM:610271"
                     /translation="MAAAGAAATHLEVARGKRAALFFAAVAIVLGLPLWWKTTETYRA
                     SLPYSQISGLNALQLRLMVPVTVVFTRESVPLDDQEKLPFTVVHEREIPLKYKMKIKC
                     RFQKAYRRALDHEEEALSSGSVQEAEAMLDEPQEQAEGSLTVYVISEHSSLLPQDMMS
                     YIGPKRTAVVRGIMHREAFNIIGRRIVQVAQAMSLTEDVLAAALADHLPEDKWSAEKR
                     RPLKSSLGYEITFSLLNPDPKSHDVYWDIEGAVRRYVQPFLNALGAAGNFSVDSQILY
                     YAMLGVNPRFDSASSSYYLDMHSLPHVINPVESRLGSSAASLYPVLNFLLYVPELAHS
                     PLYIQDKDGAPVATNAFHSPRWGGIMVYNVDSKTYNASVLPVRVEVDMVRVMEVFLAQ
                     LRLLFGIAQPQLPPKCLLSGPTSEGLMTWELDRLLWARSVENLATATTTLTSLAQLLG
                     KISNIVIKDDVASEVYKAVAAVQKSAEELASGHLASAFVASQEAVTSSELAFFDPSLL
                     HLLYFPDDQKFAIYIPLFLPMAVPILLSLVKIFLETRKSWRKPEKTD"
     exon            63..202
                     /gene="PIGS"
                     /gene_synonym="DEE95; GPIBD18; PIG-S"
                     /inference="alignment:Splign:2.1.0"
     exon            203..314
                     /gene="PIGS"
                     /gene_synonym="DEE95; GPIBD18; PIG-S"
                     /inference="alignment:Splign:2.1.0"
     exon            315..404
                     /gene="PIGS"
                     /gene_synonym="DEE95; GPIBD18; PIG-S"
                     /inference="alignment:Splign:2.1.0"
     exon            405..496
                     /gene="PIGS"
                     /gene_synonym="DEE95; GPIBD18; PIG-S"
                     /inference="alignment:Splign:2.1.0"
     exon            497..704
                     /gene="PIGS"
                     /gene_synonym="DEE95; GPIBD18; PIG-S"
                     /inference="alignment:Splign:2.1.0"
     exon            705..847
                     /gene="PIGS"
                     /gene_synonym="DEE95; GPIBD18; PIG-S"
                     /inference="alignment:Splign:2.1.0"
     exon            848..962
                     /gene="PIGS"
                     /gene_synonym="DEE95; GPIBD18; PIG-S"
                     /inference="alignment:Splign:2.1.0"
     exon            963..1108
                     /gene="PIGS"
                     /gene_synonym="DEE95; GPIBD18; PIG-S"
                     /inference="alignment:Splign:2.1.0"
     exon            1109..1209
                     /gene="PIGS"
                     /gene_synonym="DEE95; GPIBD18; PIG-S"
                     /inference="alignment:Splign:2.1.0"
     exon            1210..1420
                     /gene="PIGS"
                     /gene_synonym="DEE95; GPIBD18; PIG-S"
                     /inference="alignment:Splign:2.1.0"
     exon            1421..2529
                     /gene="PIGS"
                     /gene_synonym="DEE95; GPIBD18; PIG-S"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2496..2501
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIGS"
                     /gene_synonym="DEE95; GPIBD18; PIG-S"
                     /note="hexamer: AATAAA"
     polyA_site      2529
                     /gene="PIGS"
                     /gene_synonym="DEE95; GPIBD18; PIG-S"
                     /note="major polyA site"
ORIGIN      
        1 acggtggccg gagcagccgg aagctagcat ggcggccgcc ggggctgcgg ctacacacct
       61 agaggtggcc cggggcaagc gcgccgccct cttcttcgct gcggtggcca tcgtgctggg
      121 gctaccgctc tggtggaaga ccacggagac ctaccgggcc tcgttgcctt actcccagat
      181 cagtggcctg aatgcccttc agctccgcct catggtgcct gtcactgtcg tgtttacgcg
      241 ggagtcagtg cccctggacg accaggagaa gctgcccttc accgttgtgc atgaaagaga
      301 gattcctctg aaatacaaaa tgaaaatcaa atgccgtttc cagaaggcct atcggagggc
      361 tttggaccat gaggaggagg ccctgtcatc gggcagtgtg caagaggcag aagccatgtt
      421 agatgagcct caggaacaag cggagggctc cctgactgtg tacgtgatat ctgaacactc
      481 ctcacttctt ccccaggaca tgatgagcta cattgggccc aagaggacag cagtggtgcg
      541 ggggataatg caccgggagg cctttaacat cattggccgc cgcatagtcc aggtggccca
      601 ggccatgtct ttgactgagg atgtgcttgc tgctgctctg gctgaccacc ttccagagga
      661 caagtggagc gctgagaaga ggcggcctct caagtccagc ttgggctatg agatcacctt
      721 cagtttactc aacccagacc ccaagtccca tgatgtctac tgggacattg agggggctgt
      781 ccggcgctat gtgcaacctt tcctgaatgc cctcggtgcc gctggcaact tctctgtgga
      841 ctctcagatt ctttactatg caatgttggg ggtgaatccc cgctttgact cagcttcctc
      901 cagctactat ttggacatgc acagcctccc ccatgtcatc aacccagtgg agtcccggct
      961 gggatccagt gctgcctcct tgtaccctgt gctcaacttt ctactctacg tgcctgagct
     1021 tgcacactca ccgctgtaca ttcaggacaa ggatggcgct ccagtggcca ccaatgcctt
     1081 ccatagtccc cgctggggtg gcattatggt atataatgtt gactccaaaa cctataatgc
     1141 ctcagtgctg ccagtgagag tcgaggtgga catggtgcga gtgatggagg tgttcctggc
     1201 acagttgcgg ttgctctttg ggattgctca gccccagctg cctccaaaat gcctgctttc
     1261 agggcctacg agtgaagggc taatgacctg ggagctagac cggctgctct gggctcggtc
     1321 agtggagaac ctggccacag ccaccaccac ccttacctcc ctggcgcagc ttctgggcaa
     1381 gatcagcaac attgtcatta aggacgacgt ggcatctgag gtgtacaagg ctgtagctgc
     1441 cgtccagaag tcggcagaag agttggcgtc tgggcacctg gcatctgcct ttgtcgccag
     1501 ccaggaagct gtgacatcct ctgagcttgc cttctttgac ccgtcactcc tccacctcct
     1561 ttatttccct gatgaccaga agtttgccat ctacatccca ctcttcctgc ctatggctgt
     1621 gcccatcctc ctgtccctgg tcaagatctt cctggagacc cgcaagtcct ggagaaagcc
     1681 tgagaagaca gactgagcag ggcagcacct ccataggaag ccttcctttc tggccaaggt
     1741 gggcggtgtt agattgtgag gcacgtacat ggggcctgcc ggaatgactt aaatatttgt
     1801 ctccagtctc cactgttggc tctccagcaa ccaaagtaca acactccaag atgggttcat
     1861 cttttcttcc tttcccattc acctggctca atcctcctcc accaccaggg gcctcaaaag
     1921 gcacatcatc cgggtctcct tatcttgttt gataaggctg ctgcctgtct ccctctgtgg
     1981 caaggactgt ttgttctttt gccccatttc tcaacatagc acacttgtgc actgagagga
     2041 gggagcatta tgggaaagtc cctgccttcc acacctctct ctagtccctg tgggacagcc
     2101 ctagcccctg ctgtcatgaa ggggccaggc attggtcacc tgtgggacct tctccctcac
     2161 tcccctccct cctagttggc tttgtctgtc aggtgcagtc tggcgggagt ccaggaggca
     2221 gcagctcagg acatggtgct gtgtgtgtgt gtgtgtgtgt gtgtgtgtgt gtgtgtcaga
     2281 ggttccagaa agttccagat ttggaatcaa acagtcctga attcaaatcc ttgtttttgc
     2341 acttattgtc tggagagctt tggataaggt attgaatctc tctgagcctc agtttttcat
     2401 ttgttcaaat ggcactgatg atgtctccct tacaagatgg ttgtgaggag taaatgtgat
     2461 cagcatgtaa agtgtctggc gtgtagtagg ctcttaataa acactggctg aatatgaatt
     2521 ggaatgata
//
