LOCUS       NM_153682                707 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens phosphatidylinositol glycan anchor biosynthesis class
            P (PIGP), transcript variant 2, mRNA.
ACCESSION   NM_153682
VERSION     NM_153682.3
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 707)
  AUTHORS   Martin-Grau,C., Orellana Alonso,C., Rosello Piera,M., Pedrola
            Vidal,L., Llorens-Salvador,R., Quiroga,R., Marin Reina,P., Rubio
            Moll,J.S., Gomez Portero,R. and Martinez-Castellano,F.
  TITLE     Expanding the phenotype of PIGP deficiency to multiple congenital
            anomalies-hypotonia-seizures syndrome
  JOURNAL   Clin Genet 104 (2), 245-250 (2023)
   PUBMED   37125481
  REMARK    GeneRIF: Expanding the phenotype of PIGP deficiency to multiple
            congenital anomalies-hypotonia-seizures syndrome.
REFERENCE   2  (bases 1 to 707)
  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 707)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 707)
  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 707)
  AUTHORS   Ferrando-Miguel,R., Cheon,M.S. and Lubec,G.
  TITLE     Protein levels of genes encoded on chromosome 21 in fetal Down
            Syndrome brain (Part V): overexpression of
            phosphatidyl-inositol-glycan class P protein (DSCR5)
  JOURNAL   Amino Acids 26 (3), 255-261 (2004)
   PUBMED   15221505
REFERENCE   6  (bases 1 to 707)
  AUTHORS   Choi,D.K., Suzuki,Y., Yoshimura,S., Togashi,T., Hida,M.,
            Taylor,T.D., Wang,Y., Sugano,S., Hattori,M. and Sakaki,Y.
  TITLE     Molecular cloning and characterization of a gene expressed in mouse
            developing tongue, mDscr5 gene, a homolog of human DSCR5 (Down
            syndrome Critical Region gene 5)
  JOURNAL   Mamm Genome 12 (5), 347-351 (2001)
   PUBMED   11331941
  REMARK    GeneRIF: Results in mouse suggest that this is the only gene from
            the Down Syndrome Critical Region expressed in the developing
            tongue and that the encoded protein may be involved in
            pathophysiology of tongue malformation seen in Down syndrome.
REFERENCE   7  (bases 1 to 707)
  AUTHORS   Kinoshita,T. and Inoue,N.
  TITLE     Dissecting and manipulating the pathway for
            glycosylphos-phatidylinositol-anchor biosynthesis
  JOURNAL   Curr Opin Chem Biol 4 (6), 632-638 (2000)
   PUBMED   11102867
  REMARK    Review article
REFERENCE   8  (bases 1 to 707)
  AUTHORS   Watanabe,R., Murakami,Y., Marmor,M.D., Inoue,N., Maeda,Y., Hino,J.,
            Kangawa,K., Julius,M. and Kinoshita,T.
  TITLE     Initial enzyme for glycosylphosphatidylinositol biosynthesis
            requires PIG-P and is regulated by DPM2
  JOURNAL   EMBO J 19 (16), 4402-4411 (2000)
   PUBMED   10944123
REFERENCE   9  (bases 1 to 707)
  AUTHORS   Togashi,T., Choi,D.K., Taylor,T.D., Suzuki,Y., Sugano,S.,
            Hattori,M. and Sakaki,Y.
  TITLE     A novel gene, DSCR5, from the distal Down syndrome critical region
            on chromosome 21q22.2
  JOURNAL   DNA Res 7 (3), 207-212 (2000)
   PUBMED   10907851
REFERENCE   10 (bases 1 to 707)
  AUTHORS   Shibuya,K., Kudoh,J., Minoshima,S., Kawasaki,K., Asakawa,S. and
            Shimizu,N.
  TITLE     Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome
            critical region on human chromosome 21q22.2
  JOURNAL   Biochem Biophys Res Commun 271 (3), 693-698 (2000)
   PUBMED   10814524
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BE275469.1, AB037162.1 and
            AI127387.1.
            
            On May 20, 2020 this sequence version replaced NM_153682.2.
            
            Summary: This gene encodes an enzyme involved in the first step of
            glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The
            GPI-anchor is a glycolipid found on many blood cells that serves to
            anchor proteins to the cell surface. The encoded protein is a
            component of the GPI-N-acetylglucosaminyltransferase complex that
            catalyzes the transfer of N-acetylglucosamine (GlcNAc) from
            UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in
            the Down Syndrome critical region on chromosome 21 and is a
            candidate for the pathogenesis of Down syndrome. This gene has
            multiple pseudogenes and is a member of the phosphatidylinositol
            glycan anchor biosynthesis gene family. Alternatively spliced
            transcript variants encoding different isoforms have been
            described. [provided by RefSeq, Feb 2016].
            
            Transcript Variant: This variant (2) contains a distinct 5' UTR and
            initiates translation from a downstream start codon, compared to
            variant 1. The encoded protein (isoform 2) has a shorter N-terminus
            compared to isoform 1. Variants 2 and 5 encode the same protein
            (isoform 2).
            
            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 :: DN995522.1, AB037162.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA2142586 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000360525.9/ ENSP00000353719.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-119               BE275469.1         88-206
            120-704             AB037162.1         143-727
            705-707             AI127387.1         11-13               c
FEATURES             Location/Qualifiers
     source          1..707
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.13"
     gene            1..707
                     /gene="PIGP"
                     /gene_synonym="DCRC; DCRC-S; DEE55; DSCR5; DSRC; EIEE55;
                     PIG-P"
                     /note="phosphatidylinositol glycan anchor biosynthesis
                     class P"
                     /db_xref="GeneID:51227"
                     /db_xref="HGNC:HGNC:3046"
                     /db_xref="MIM:605938"
     exon            1..72
                     /gene="PIGP"
                     /gene_synonym="DCRC; DCRC-S; DEE55; DSCR5; DSRC; EIEE55;
                     PIG-P"
                     /inference="alignment:Splign:2.1.0"
     exon            73..176
                     /gene="PIGP"
                     /gene_synonym="DCRC; DCRC-S; DEE55; DSCR5; DSRC; EIEE55;
                     PIG-P"
                     /inference="alignment:Splign:2.1.0"
     CDS             95..499
                     /gene="PIGP"
                     /gene_synonym="DCRC; DCRC-S; DEE55; DSCR5; DSRC; EIEE55;
                     PIG-P"
                     /EC_number="2.4.1.198"
                     /note="isoform 2 is encoded by transcript variant 2;
                     phosphatidylinositol glycan, class P; Down syndrome
                     critical region gene 5;
                     phosphatidylinositol-n-acetylglucosaminyltranferase
                     subunit; Down syndrome critical region protein 5; Down
                     syndrome critical region protein C; phosphatidylinositol
                     N-acetylglucosaminyltransferase subunit P;
                     phosphatidylinositol-glycan biosynthesis class P protein;
                     phosphatidylinositol-n-acetylglucosaminyltranferase
                     subunit P"
                     /codon_start=1
                     /product="phosphatidylinositol
                     N-acetylglucosaminyltransferase subunit P isoform 2"
                     /protein_id="NP_710149.1"
                     /db_xref="CCDS:CCDS13650.1"
                     /db_xref="GeneID:51227"
                     /db_xref="HGNC:HGNC:3046"
                     /db_xref="MIM:605938"
                     /translation="MVENSPSPLPERAIYGFVLFLSSQFGFILYLVWAFIPESWLNSL
                     GLTYWPQKYWAVALPVYLLIAIVIGYVLLFGINMMSTSPLDSIHTITDNYAKNQQQKK
                     YQEEAIPALRDISISEVNQMFFLAAKELYTKN"
     exon            177..249
                     /gene="PIGP"
                     /gene_synonym="DCRC; DCRC-S; DEE55; DSCR5; DSRC; EIEE55;
                     PIG-P"
                     /inference="alignment:Splign:2.1.0"
     exon            250..368
                     /gene="PIGP"
                     /gene_synonym="DCRC; DCRC-S; DEE55; DSCR5; DSRC; EIEE55;
                     PIG-P"
                     /inference="alignment:Splign:2.1.0"
     exon            369..707
                     /gene="PIGP"
                     /gene_synonym="DCRC; DCRC-S; DEE55; DSCR5; DSRC; EIEE55;
                     PIG-P"
                     /inference="alignment:Splign:2.1.0"
     regulatory      682..687
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIGP"
                     /gene_synonym="DCRC; DCRC-S; DEE55; DSCR5; DSRC; EIEE55;
                     PIG-P"
                     /note="hexamer: AATAAA"
     polyA_site      707
                     /gene="PIGP"
                     /gene_synonym="DCRC; DCRC-S; DEE55; DSCR5; DSRC; EIEE55;
                     PIG-P"
                     /note="major polyA site"
ORIGIN      
        1 ctttccctca ggttttcctc ttccccactg cggctcccca gtcggcgctt gcgcggagaa
       61 ctcagcgctg agattgtcta aagccccagg aaaaatggtg gaaaattcac cgtcgccatt
      121 gccagaaaga gcgatttatg gctttgttct tttcttaagc tcccaatttg gcttcatact
      181 ttacctcgtg tgggccttta ttcctgaatc ttggctaaac tctttaggtt taacctattg
      241 gcctcaaaaa tattgggcag ttgcattacc tgtctacctc cttattgcta tagtaattgg
      301 ctacgtgctc ttgtttggga ttaacatgat gagtacctct ccactcgact ccatccatac
      361 aatcacagat aactatgcaa aaaatcaaca gcagaagaaa taccaagagg aggccattcc
      421 agccttaaga gatatttcta ttagtgaagt aaaccaaatg ttctttcttg cagccaaaga
      481 actttacacc aaaaactgaa ctgtgtgtaa ccatagtaac accaagcacg tatttattta
      541 taagtttttg ccattataat tttgaccata aattaatttg accatctctc ttattaatag
      601 agaagtaaaa aatgtaagtt gaccttctct tagattatgt tcaatgaata ttgtaaatgt
      661 tcaagtattg ttaatgaata gaataaatac aatattgcat tcccata
//
