LOCUS       NM_080476               1639 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens phosphatidylinositol glycan anchor biosynthesis class
            U (PIGU), mRNA.
ACCESSION   NM_080476
VERSION     NM_080476.5
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 1639)
  AUTHORS   Liu,S.S., Jin,F., Liu,Y.S., Murakami,Y., Sugita,Y., Kato,T.,
            Gao,X.D., Kinoshita,T., Hattori,M. and Fujita,M.
  TITLE     Functional Analysis of the GPI Transamidase Complex by Screening
            for Amino Acid Mutations in Each Subunit
  JOURNAL   Molecules 26 (18), 5462 (2021)
   PUBMED   34576938
  REMARK    GeneRIF: Functional Analysis of the GPI Transamidase Complex by
            Screening for Amino Acid Mutations in Each Subunit.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1639)
  AUTHORS   Wei,X., Yang,W., Zhang,F., Cheng,F., Rao,J. and Lu,L.
  TITLE     PIGU promotes hepatocellular carcinoma progression through
            activating NF-kappaB pathway and increasing immune escape
  JOURNAL   Life Sci 260, 118476 (2020)
   PUBMED   32971102
  REMARK    GeneRIF: PIGU promotes hepatocellular carcinoma progression through
            activating NF-kappaB pathway and increasing immune escape.
REFERENCE   3  (bases 1 to 1639)
  AUTHORS   Zhang,M., Wang,H.Z., Li,H.O., Zhou,Y.J., Peng,R.Y., Liu,J. and
            Zhao,Q.
  TITLE     Identification of PIGU as the Hub Gene Associated with KRAS
            Mutation in Colorectal Cancer by Coexpression Analysis
  JOURNAL   DNA Cell Biol 39 (9), 1639-1648 (2020)
   PUBMED   32552000
  REMARK    GeneRIF: Identification of PIGU as the Hub Gene Associated with
            KRAS Mutation in Colorectal Cancer by Coexpression Analysis.
REFERENCE   4  (bases 1 to 1639)
  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   5  (bases 1 to 1639)
  AUTHORS   Knaus,A., Kortum,F., Kleefstra,T., Stray-Pedersen,A., Dukic,D.,
            Murakami,Y., Gerstner,T., van Bokhoven,H., Iqbal,Z., Horn,D.,
            Kinoshita,T., Hempel,M. and Krawitz,P.M.
  TITLE     Mutations in PIGU Impair the Function of the GPI Transamidase
            Complex, Causing Severe Intellectual Disability, Epilepsy, and
            Brain Anomalies
  JOURNAL   Am J Hum Genet 105 (2), 395-402 (2019)
   PUBMED   31353022
  REMARK    GeneRIF: Mutations in PIGU Impair the Function of the
            glycosylphosphatidylinositol Transamidase Complex, Causing Severe
            Intellectual Disability, Epilepsy, and Brain Anomalies.
REFERENCE   6  (bases 1 to 1639)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., 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., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   7  (bases 1 to 1639)
  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   8  (bases 1 to 1639)
  AUTHORS   Deloukas,P., Matthews,L.H., Ashurst,J., Burton,J., Gilbert,J.G.,
            Jones,M., Stavrides,G., Almeida,J.P., Babbage,A.K., Bagguley,C.L.,
            Bailey,J., Barlow,K.F., Bates,K.N., Beard,L.M., Beare,D.M.,
            Beasley,O.P., Bird,C.P., Blakey,S.E., Bridgeman,A.M., Brown,A.J.,
            Buck,D., Burrill,W., Butler,A.P., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M., Clark,G., Clark,L.N., Clark,S.Y.,
            Clee,C.M., Clegg,S., Cobley,V.E., Collier,R.E., Connor,R.,
            Corby,N.R., Coulson,A., Coville,G.J., Deadman,R., Dhami,P.,
            Dunn,M., Ellington,A.G., Frankland,J.A., Fraser,A., French,L.,
            Garner,P., Grafham,D.V., Griffiths,C., Griffiths,M.N., Gwilliam,R.,
            Hall,R.E., Hammond,S., Harley,J.L., Heath,P.D., Ho,S., Holden,J.L.,
            Howden,P.J., Huckle,E., Hunt,A.R., Hunt,S.E., Jekosch,K.,
            Johnson,C.M., Johnson,D., Kay,M.P., Kimberley,A.M., King,A.,
            Knights,A., Laird,G.K., Lawlor,S., Lehvaslaiho,M.H., Leversha,M.,
            Lloyd,C., Lloyd,D.M., Lovell,J.D., Marsh,V.L., Martin,S.L.,
            McConnachie,L.J., McLay,K., McMurray,A.A., Milne,S., Mistry,D.,
            Moore,M.J., Mullikin,J.C., Nickerson,T., Oliver,K., Parker,A.,
            Patel,R., Pearce,T.A., Peck,A.I., Phillimore,B.J.,
            Prathalingam,S.R., Plumb,R.W., Ramsay,H., Rice,C.M., Ross,M.T.,
            Scott,C.E., Sehra,H.K., Shownkeen,R., Sims,S., Skuce,C.D.,
            Smith,M.L., Soderlund,C., Steward,C.A., Sulston,J.E., Swann,M.,
            Sycamore,N., Taylor,R., Tee,L., Thomas,D.W., Thorpe,A., Tracey,A.,
            Tromans,A.C., Vaudin,M., Wall,M., Wallis,J.M., Whitehead,S.L.,
            Whittaker,P., Willey,D.L., Williams,L., Williams,S.A., Wilming,L.,
            Wray,P.W., Hubbard,T., Durbin,R.M., Bentley,D.R., Beck,S. and
            Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
REFERENCE   9  (bases 1 to 1639)
  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 1639)
  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 AY422169.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 27, 2020 this sequence version replaced NM_080476.4.
            
            Summary: The protein encoded by this gene shares similarity with
            Saccharomyces cerevisiae Cdc91, a predicted integral membrane
            protein that may function in cell division control. The protein
            encoded by this gene is the fifth subunit of GPI transamidase that
            attaches GPI-anchors 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 :: AY422169.1, BC030512.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000217446.8/ ENSP00000217446.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1639              AY422169.1         194-1832
FEATURES             Location/Qualifiers
     source          1..1639
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.22"
     gene            1..1639
                     /gene="PIGU"
                     /gene_synonym="CDC91L1; GAB1; GPIBD21; NEDBSS; PIG-U"
                     /note="phosphatidylinositol glycan anchor biosynthesis
                     class U"
                     /db_xref="GeneID:128869"
                     /db_xref="HGNC:HGNC:15791"
                     /db_xref="MIM:608528"
     exon            1..137
                     /gene="PIGU"
                     /gene_synonym="CDC91L1; GAB1; GPIBD21; NEDBSS; PIG-U"
                     /inference="alignment:Splign:2.1.0"
     CDS             8..1315
                     /gene="PIGU"
                     /gene_synonym="CDC91L1; GAB1; GPIBD21; NEDBSS; PIG-U"
                     /note="CDC91 (cell division cycle 91, S. cerevisiae,
                     homolog)-like 1; GPI transamidase subunit; cell division
                     cycle 91-like 1 protein; protein CDC91-like 1; GPI
                     transamidase component PIG-U; cell division cycle protein
                     91-like 1; GPI transamidase subunit PIGU; GPI and Actin
                     Bar homolog"
                     /codon_start=1
                     /product="phosphatidylinositol glycan anchor biosynthesis
                     class U protein"
                     /protein_id="NP_536724.1"
                     /db_xref="CCDS:CCDS13239.1"
                     /db_xref="GeneID:128869"
                     /db_xref="HGNC:HGNC:15791"
                     /db_xref="MIM:608528"
                     /translation="MAAPLVLVLVVAVTVRAALFRSSLAEFISERVEVVSPLSSWKRV
                     VEGLSLLDLGVSPYSGAVFHETPLIIYLFHFLIDYAELVFMITDALTAIALYFAIQDF
                     NKVVFKKQKLLLELDQYAPDVAELIRTPMEMRYIPLKVALFYLLNPYTILSCVAKSTC
                     AINNTLIAFFILTTIKGSAFLSAIFLALATYQSLYPLTLFVPGLLYLLQRQYIPVKMK
                     SKAFWIFSWEYAMMYVGSLVVIICLSFFLLSSWDFIPAVYGFILSVPDLTPNIGLFWY
                     FFAEMFEHFSLFFVCVFQINVFFYTIPLAIKLKEHPIFFMFIQIAVIAIFKSYPTVGD
                     VALYMAFFPVWNHLYRFLRNIFVLTCIIIVCSLLFPVLWHLWIYAGSANSNFFYAITL
                     TFNVGQILLISDYFYAFLRREYYLTHGLYLTAKDGTEAMLVLK"
     exon            138..202
                     /gene="PIGU"
                     /gene_synonym="CDC91L1; GAB1; GPIBD21; NEDBSS; PIG-U"
                     /inference="alignment:Splign:2.1.0"
     exon            203..262
                     /gene="PIGU"
                     /gene_synonym="CDC91L1; GAB1; GPIBD21; NEDBSS; PIG-U"
                     /inference="alignment:Splign:2.1.0"
     exon            263..325
                     /gene="PIGU"
                     /gene_synonym="CDC91L1; GAB1; GPIBD21; NEDBSS; PIG-U"
                     /inference="alignment:Splign:2.1.0"
     exon            326..435
                     /gene="PIGU"
                     /gene_synonym="CDC91L1; GAB1; GPIBD21; NEDBSS; PIG-U"
                     /inference="alignment:Splign:2.1.0"
     exon            436..536
                     /gene="PIGU"
                     /gene_synonym="CDC91L1; GAB1; GPIBD21; NEDBSS; PIG-U"
                     /inference="alignment:Splign:2.1.0"
     exon            537..634
                     /gene="PIGU"
                     /gene_synonym="CDC91L1; GAB1; GPIBD21; NEDBSS; PIG-U"
                     /inference="alignment:Splign:2.1.0"
     exon            635..789
                     /gene="PIGU"
                     /gene_synonym="CDC91L1; GAB1; GPIBD21; NEDBSS; PIG-U"
                     /inference="alignment:Splign:2.1.0"
     exon            790..933
                     /gene="PIGU"
                     /gene_synonym="CDC91L1; GAB1; GPIBD21; NEDBSS; PIG-U"
                     /inference="alignment:Splign:2.1.0"
     exon            934..1058
                     /gene="PIGU"
                     /gene_synonym="CDC91L1; GAB1; GPIBD21; NEDBSS; PIG-U"
                     /inference="alignment:Splign:2.1.0"
     exon            1059..1201
                     /gene="PIGU"
                     /gene_synonym="CDC91L1; GAB1; GPIBD21; NEDBSS; PIG-U"
                     /inference="alignment:Splign:2.1.0"
     exon            1202..1639
                     /gene="PIGU"
                     /gene_synonym="CDC91L1; GAB1; GPIBD21; NEDBSS; PIG-U"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1613..1618
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIGU"
                     /gene_synonym="CDC91L1; GAB1; GPIBD21; NEDBSS; PIG-U"
                     /note="hexamer: AATAAA"
     polyA_site      1639
                     /gene="PIGU"
                     /gene_synonym="CDC91L1; GAB1; GPIBD21; NEDBSS; PIG-U"
                     /note="major polyA site"
ORIGIN      
        1 agttatcatg gcggctccct tggtcctggt gctggtggtg gctgtgacag tgcgggcggc
       61 cttgttccgc tccagtctgg ccgagttcat ttccgagcgg gtggaggtgg tgtccccact
      121 gagctcttgg aagagagtgg ttgaaggcct ttcactgttg gacttgggag tatctccgta
      181 ttctggagca gtatttcatg aaactccatt aataatatac ctctttcatt tcctaattga
      241 ctatgctgaa ttggtgttta tgataactga tgcactcact gctattgccc tgtattttgc
      301 aatccaggac ttcaataaag ttgtgtttaa aaagcagaaa ctcctcctag aactggacca
      361 gtatgcccca gatgtggccg aactcatccg gacccctatg gaaatgcgtt acatcccttt
      421 gaaagtggcc ctgttctatc tcttaaatcc ttacacgatt ttgtcttgtg ttgccaagtc
      481 tacctgtgcc atcaacaaca ccctcattgc tttcttcatt ttgactacga taaaaggcag
      541 tgctttcctc agtgctattt ttcttgcctt agcgacatac cagtctctgt acccactcac
      601 cttgtttgtc ccaggactcc tctatctcct ccagcggcag tacatacctg tgaaaatgaa
      661 gagcaaagcc ttctggatct tttcttggga gtatgccatg atgtatgtgg gaagcctagt
      721 ggtaatcatt tgcctctcct tcttccttct cagctcttgg gatttcatcc ccgcagtcta
      781 tggctttata ctttctgttc cagatctcac tccaaacatt ggtcttttct ggtacttctt
      841 tgcagagatg tttgagcact tcagcctctt ctttgtatgt gtgtttcaga tcaacgtctt
      901 cttctacacc atccccttag ccataaagct aaaggagcac cccatcttct tcatgtttat
      961 ccagatcgct gtcatcgcca tctttaagtc ctacccgaca gtgggggacg tggcgctcta
     1021 catggccttc ttccccgtgt ggaaccatct ctacagattc ctgagaaaca tctttgtcct
     1081 cacctgcatc atcatcgtct gttccctgct cttccctgtc ctgtggcacc tctggattta
     1141 tgcaggaagt gccaactcta atttctttta tgccatcaca ctgaccttca acgttgggca
     1201 gatcctgctc atctctgatt acttctatgc cttcctgcgg cgggagtact acctcacaca
     1261 tggcctctac ttgaccgcca aggatggcac agaggccatg ctcgtgctca agtaggcctg
     1321 gctggcacag ggctgcatgg acctcagggg gctgtggggc cagaagctgg gccaagccct
     1381 ccagccagag ttgccagcag gcgagtgctt gggcagaaga ggttcgagtc cagggtcaca
     1441 agtctctggt accaaaaggg acccatggct gactgacagc aaggcctatg gggaagaact
     1501 gggagctccc caacttggac ccccaccttg tggctctgca caccaaggag ccccctccca
     1561 gacaggaagg agaagaggca ggtgagcagg gcttgttaga ttgtggctac ttaataaatg
     1621 ttttttgtta tgaagtcta
//
