LOCUS       NM_153747               1456 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens phosphatidylinositol glycan anchor biosynthesis class
            C (PIGC), transcript variant 1, mRNA.
ACCESSION   NM_153747
VERSION     NM_153747.2
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 1456)
  AUTHORS   Edvardson,S., Murakami,Y., Nguyen,T.T., Shahrour,M., St-Denis,A.,
            Shaag,A., Damseh,N., Le Deist,F., Bryceson,Y., Abu-Libdeh,B.,
            Campeau,P.M., Kinoshita,T. and Elpeleg,O.
  TITLE     Mutations in the phosphatidylinositol glycan C (PIGC) gene are
            associated with epilepsy and intellectual disability
  JOURNAL   J Med Genet 54 (3), 196-201 (2017)
   PUBMED   27694521
  REMARK    GeneRIF: PIGC joins the list of genes in which mutations result in
            defective biosynthesis of GPI anchoring, manifesting by global
            developmental delay and seizure disorder.
REFERENCE   2  (bases 1 to 1456)
  AUTHORS   Schleinitz,D., Kloting,N., Lindgren,C.M., Breitfeld,J.,
            Dietrich,A., Schon,M.R., Lohmann,T., Dressler,M., Stumvoll,M.,
            McCarthy,M.I., Bluher,M. and Kovacs,P.
  TITLE     Fat depot-specific mRNA expression of novel loci associated with
            waist-hip ratio
  JOURNAL   Int J Obes (Lond) 38 (1), 120-125 (2014)
   PUBMED   23670221
  REMARK    GeneRIF: Genes within recently identified loci associated with
            waist-hip ratio (WHR) exhibit fat depot-specific mRNA expression,
            which correlates with obesity-related traits. Adipose tissue (AT)
            mRNA expression of 6 genes (TBX15/WARS2, STAB1, PIGC, ZNRF3, GRB14
REFERENCE   3  (bases 1 to 1456)
  AUTHORS   Heid,I.M., Jackson,A.U., Randall,J.C., Winkler,T.W., Qi,L.,
            Steinthorsdottir,V., Thorleifsson,G., Zillikens,M.C.,
            Speliotes,E.K., Magi,R., Workalemahu,T., White,C.C.,
            Bouatia-Naji,N., Harris,T.B., Berndt,S.I., Ingelsson,E.,
            Willer,C.J., Weedon,M.N., Luan,J., Vedantam,S., Esko,T.,
            Kilpelainen,T.O., Kutalik,Z., Li,S., Monda,K.L., Dixon,A.L.,
            Holmes,C.C., Kaplan,L.M., Liang,L., Min,J.L., Moffatt,M.F.,
            Molony,C., Nicholson,G., Schadt,E.E., Zondervan,K.T., Feitosa,M.F.,
            Ferreira,T., Lango Allen,H., Weyant,R.J., Wheeler,E., Wood,A.R.,
            Estrada,K., Goddard,M.E., Lettre,G., Mangino,M., Nyholt,D.R.,
            Purcell,S., Smith,A.V., Visscher,P.M., Yang,J., McCarroll,S.A.,
            Nemesh,J., Voight,B.F., Absher,D., Amin,N., Aspelund,T., Coin,L.,
            Glazer,N.L., Hayward,C., Heard-Costa,N.L., Hottenga,J.J.,
            Johansson,A., Johnson,T., Kaakinen,M., Kapur,K., Ketkar,S.,
            Knowles,J.W., Kraft,P., Kraja,A.T., Lamina,C., Leitzmann,M.F.,
            McKnight,B., Morris,A.P., Ong,K.K., Perry,J.R., Peters,M.J.,
            Polasek,O., Prokopenko,I., Rayner,N.W., Ripatti,S., Rivadeneira,F.,
            Robertson,N.R., Sanna,S., Sovio,U., Surakka,I., Teumer,A., van
            Wingerden,S., Vitart,V., Zhao,J.H., Cavalcanti-Proenca,C.,
            Chines,P.S., Fisher,E., Kulzer,J.R., Lecoeur,C., Narisu,N.,
            Sandholt,C., Scott,L.J., Silander,K., Stark,K., Tammesoo,M.L.,
            Teslovich,T.M., Timpson,N.J., Watanabe,R.M., Welch,R.,
            Chasman,D.I., Cooper,M.N., Jansson,J.O., Kettunen,J.,
            Lawrence,R.W., Pellikka,N., Perola,M., Vandenput,L., Alavere,H.,
            Almgren,P., Atwood,L.D., Bennett,A.J., Biffar,R., Bonnycastle,L.L.,
            Bornstein,S.R., Buchanan,T.A., Campbell,H., Day,I.N., Dei,M.,
            Dorr,M., Elliott,P., Erdos,M.R., Eriksson,J.G., Freimer,N.B.,
            Fu,M., Gaget,S., Geus,E.J., Gjesing,A.P., Grallert,H., Grassler,J.,
            Groves,C.J., Guiducci,C., Hartikainen,A.L., Hassanali,N.,
            Havulinna,A.S., Herzig,K.H., Hicks,A.A., Hui,J., Igl,W.,
            Jousilahti,P., Jula,A., Kajantie,E., Kinnunen,L., Kolcic,I.,
            Koskinen,S., Kovacs,P., Kroemer,H.K., Krzelj,V., Kuusisto,J.,
            Kvaloy,K., Laitinen,J., Lantieri,O., Lathrop,G.M., Lokki,M.L.,
            Luben,R.N., Ludwig,B., McArdle,W.L., McCarthy,A., Morken,M.A.,
            Nelis,M., Neville,M.J., Pare,G., Parker,A.N., Peden,J.F.,
            Pichler,I., Pietilainen,K.H., Platou,C.G., Pouta,A.,
            Ridderstrale,M., Samani,N.J., Saramies,J., Sinisalo,J., Smit,J.H.,
            Strawbridge,R.J., Stringham,H.M., Swift,A.J., Teder-Laving,M.,
            Thomson,B., Usala,G., van Meurs,J.B., van Ommen,G.J., Vatin,V.,
            Volpato,C.B., Wallaschofski,H., Walters,G.B., Widen,E., Wild,S.H.,
            Willemsen,G., Witte,D.R., Zgaga,L., Zitting,P., Beilby,J.P.,
            James,A.L., Kahonen,M., Lehtimaki,T., Nieminen,M.S., Ohlsson,C.,
            Palmer,L.J., Raitakari,O., Ridker,P.M., Stumvoll,M., Tonjes,A.,
            Viikari,J., Balkau,B., Ben-Shlomo,Y., Bergman,R.N., Boeing,H.,
            Smith,G.D., Ebrahim,S., Froguel,P., Hansen,T., Hengstenberg,C.,
            Hveem,K., Isomaa,B., Jorgensen,T., Karpe,F., Khaw,K.T., Laakso,M.,
            Lawlor,D.A., Marre,M., Meitinger,T., Metspalu,A., Midthjell,K.,
            Pedersen,O., Salomaa,V., Schwarz,P.E., Tuomi,T., Tuomilehto,J.,
            Valle,T.T., Wareham,N.J., Arnold,A.M., Beckmann,J.S., Bergmann,S.,
            Boerwinkle,E., Boomsma,D.I., Caulfield,M.J., Collins,F.S.,
            Eiriksdottir,G., Gudnason,V., Gyllensten,U., Hamsten,A.,
            Hattersley,A.T., Hofman,A., Hu,F.B., Illig,T., Iribarren,C.,
            Jarvelin,M.R., Kao,W.H., Kaprio,J., Launer,L.J., Munroe,P.B.,
            Oostra,B., Penninx,B.W., Pramstaller,P.P., Psaty,B.M.,
            Quertermous,T., Rissanen,A., Rudan,I., Shuldiner,A.R., Soranzo,N.,
            Spector,T.D., Syvanen,A.C., Uda,M., Uitterlinden,A., Volzke,H.,
            Vollenweider,P., Wilson,J.F., Witteman,J.C., Wright,A.F.,
            Abecasis,G.R., Boehnke,M., Borecki,I.B., Deloukas,P.,
            Frayling,T.M., Groop,L.C., Haritunians,T., Hunter,D.J.,
            Kaplan,R.C., North,K.E., O'Connell,J.R., Peltonen,L.,
            Schlessinger,D., Strachan,D.P., Hirschhorn,J.N., Assimes,T.L.,
            Wichmann,H.E., Thorsteinsdottir,U., van Duijn,C.M., Stefansson,K.,
            Cupples,L.A., Loos,R.J., Barroso,I., McCarthy,M.I., Fox,C.S.,
            Mohlke,K.L. and Lindgren,C.M.
  CONSRTM   MAGIC
  TITLE     Meta-analysis identifies 13 new loci associated with waist-hip
            ratio and reveals sexual dimorphism in the genetic basis of fat
            distribution
  JOURNAL   Nat Genet 42 (11), 949-960 (2010)
   PUBMED   20935629
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
            Erratum:[Nat Genet. 2011 Nov;43(11):1164]
REFERENCE   4  (bases 1 to 1456)
  AUTHORS   Murakami,Y., Siripanyaphinyo,U., Hong,Y., Tashima,Y., Maeda,Y. and
            Kinoshita,T.
  TITLE     The initial enzyme for glycosylphosphatidylinositol biosynthesis
            requires PIG-Y, a seventh component
  JOURNAL   Mol Biol Cell 16 (11), 5236-5246 (2005)
   PUBMED   16162815
REFERENCE   5  (bases 1 to 1456)
  AUTHORS   Eisenhaber,B., Maurer-Stroh,S., Novatchkova,M., Schneider,G. and
            Eisenhaber,F.
  TITLE     Enzymes and auxiliary factors for GPI lipid anchor biosynthesis and
            post-translational transfer to proteins
  JOURNAL   Bioessays 25 (4), 367-385 (2003)
   PUBMED   12655644
  REMARK    Review article
REFERENCE   6  (bases 1 to 1456)
  AUTHORS   Watanabe,R., Inoue,N., Westfall,B., Taron,C.H., Orlean,P.,
            Takeda,J. and Kinoshita,T.
  TITLE     The first step of glycosylphosphatidylinositol biosynthesis is
            mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1
  JOURNAL   EMBO J 17 (4), 877-885 (1998)
   PUBMED   9463366
REFERENCE   7  (bases 1 to 1456)
  AUTHORS   Hong,Y., Ohishi,K., Inoue,N., Endo,Y., Fujita,T., Takeda,J. and
            Kinoshita,T.
  TITLE     Structures and chromosomal localizations of the
            glycosylphosphatidylinositol synthesis gene PIGC and its pseudogene
            PIGCP1
  JOURNAL   Genomics 44 (3), 347-349 (1997)
   PUBMED   9325057
REFERENCE   8  (bases 1 to 1456)
  AUTHORS   Watanabe,R., Kinoshita,T., Masaki,R., Yamamoto,A., Takeda,J. and
            Inoue,N.
  TITLE     PIG-A and PIG-H, which participate in glycosylphosphatidylinositol
            anchor biosynthesis, form a protein complex in the endoplasmic
            reticulum
  JOURNAL   J Biol Chem 271 (43), 26868-26875 (1996)
   PUBMED   8900170
REFERENCE   9  (bases 1 to 1456)
  AUTHORS   Inoue,N., Watanabe,R., Takeda,J. and Kinoshita,T.
  TITLE     PIG-C, one of the three human genes involved in the first step of
            glycosylphosphatidylinositol biosynthesis is a homologue of
            Saccharomyces cerevisiae GPI2
  JOURNAL   Biochem Biophys Res Commun 226 (1), 193-199 (1996)
   PUBMED   8806613
REFERENCE   10 (bases 1 to 1456)
  AUTHORS   Adams,M.D., Kerlavage,A.R., Fleischmann,R.D., Fuldner,R.A.,
            Bult,C.J., Lee,N.H., Kirkness,E.F., Weinstock,K.G., Gocayne,J.D.,
            White,O. et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AA372370.1 and BC006539.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_153747.1.
            
            Summary: This gene encodes an endoplasmic reticulum associated
            protein that is involved in glycosylphosphatidylinositol (GPI)
            lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid
            found on many blood cells and serves to anchor proteins to the cell
            surface. The encoded protein is one subunit of the GPI
            N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to
            phosphatidylinositol (PI) on the cytoplasmic side of the
            endoplasmic reticulum. Two alternatively spliced transcripts that
            encode the same protein have been found for this gene. A pseudogene
            on chromosome 11 has also been characterized. [provided by RefSeq,
            Jul 2008].
            
            Transcript Variant: This variant (1) is the predominant transcript.
            Variants 1 and 2 encode the same protein.
            
            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 :: BC006539.2, AK308201.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000344529.5/ ENSP00000356701.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 AA372370.1         22-30
            10-1456             BC006539.2         1-1447
FEATURES             Location/Qualifiers
     source          1..1456
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q24.3"
     gene            1..1456
                     /gene="PIGC"
                     /gene_synonym="GPI2; GPIBD16; MRT62"
                     /note="phosphatidylinositol glycan anchor biosynthesis
                     class C"
                     /db_xref="GeneID:5279"
                     /db_xref="HGNC:HGNC:8960"
                     /db_xref="MIM:601730"
     exon            1..82
                     /gene="PIGC"
                     /gene_synonym="GPI2; GPIBD16; MRT62"
                     /inference="alignment:Splign:2.1.0"
     exon            83..1456
                     /gene="PIGC"
                     /gene_synonym="GPI2; GPIBD16; MRT62"
                     /inference="alignment:Splign:2.1.0"
     CDS             291..1184
                     /gene="PIGC"
                     /gene_synonym="GPI2; GPIBD16; MRT62"
                     /EC_number="2.4.1.198"
                     /note="phosphatidylinositol-glycan biosynthesis, class C
                     protein; PIG-C"
                     /codon_start=1
                     /product="phosphatidylinositol
                     N-acetylglucosaminyltransferase subunit C"
                     /protein_id="NP_714969.1"
                     /db_xref="CCDS:CCDS1302.1"
                     /db_xref="GeneID:5279"
                     /db_xref="HGNC:HGNC:8960"
                     /db_xref="MIM:601730"
                     /translation="MYAQPVTNTKEVKWQKVLYERQPFPDNYVDRRFLEELRKNIHAR
                     KYQYWAVVFESSVVIQQLCSVCVFVVIWWYMDEGLLAPHWLLGTGLASSLIGYVLFDL
                     IDGGEGRKKSGQTRWADLKSALVFITFTYGFSPVLKTLTESVSTDTIYAMSVFMLLGH
                     LIFFDYGANAAIVSSTLSLNMAIFASVCLASRLPRSLHAFIMVTFAIQIFALWPMLQK
                     KLKACTPRSYVGVTLLFAFSAVGGLLSISAVGAVLFALLLMSISCLCPFYLIRLQLFK
                     ENIHGPWDEAEIKEDLSRFLS"
     regulatory      1436..1441
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIGC"
                     /gene_synonym="GPI2; GPIBD16; MRT62"
                     /note="hexamer: ATTAAA"
     polyA_site      1456
                     /gene="PIGC"
                     /gene_synonym="GPI2; GPIBD16; MRT62"
                     /note="major polyA site"
ORIGIN      
        1 acagtcgcag ccccggcgcc ccgaagcggg aaaaaggctg ggtgccgccg tcccccagct
       61 gcgcaaccct aggaactctc gggaacttgg ctgtgttgtc ctgcctcaga gacaaattca
      121 tctattgtag gcctagcccc tgcctttgaa aacaaggaaa ggttggtaga acatcaacac
      181 agcatggaat ttccagggag gtctcatttc aaaacttcat aaagaacaag aaccacctgg
      241 acttctgtga gggcgatgat taaactggcc tgagtttgaa tgaaaggata atgtatgctc
      301 aacctgtgac taacaccaag gaggtcaagt ggcagaaggt cttgtatgag cgacagccct
      361 ttcctgataa ctatgtggac cggcgattcc tggaagagct ccggaaaaac atccatgctc
      421 ggaaatacca atattgggct gtggtatttg agtccagtgt ggtgatccag cagctgtgca
      481 gtgtttgtgt ttttgtggtt atctggtggt atatggatga gggtcttctg gccccccatt
      541 ggcttttagg gactggtctg gcttcttcac tgattgggta tgttttgttt gatctcattg
      601 atggaggtga agggcggaag aagagtgggc agacccggtg ggctgacctg aagagtgccc
      661 tagtcttcat tactttcact tatgggtttt caccagtgct gaagaccctt acagagtctg
      721 tcagcactga caccatctat gccatgtcag tcttcatgct gttaggccat ctcatctttt
      781 ttgactatgg tgccaatgct gccattgtat ccagcacact atccttgaac atggccatct
      841 ttgcttctgt atgcttggca tcacgtcttc cccggtccct gcatgccttc atcatggtga
      901 catttgccat tcagattttt gccctgtggc ccatgttgca gaagaaacta aaggcatgta
      961 ctccccggag ctatgtgggg gtcacactgc tttttgcatt ttcagccgtg ggaggcctac
     1021 tgtccattag tgctgtggga gccgtactct ttgcccttct gctgatgtct atctcatgtc
     1081 tgtgtccatt ctacctcatt cgcttgcagc tttttaaaga aaacattcat gggccttggg
     1141 atgaagctga aatcaaggaa gacttgtcca ggttcctcag ttaaattagg acatccatta
     1201 cattattaaa gcaagctgat agattagcct cctaactagt atagaactta aagacagagt
     1261 tccattctgg aagcagcatg tcattgtggt aagagaatag agatcaaaac caaaaaaaat
     1321 gaaccaaagg cttgggtggt gagggtgctt atcctttctg ttattttgta gatgaaaaaa
     1381 ctttctgggg acctcttgaa ttacatgctg taacatatga agtgatgtgg tttctattaa
     1441 aaaaataaca catcca
//
