LOCUS       NM_004204               2958 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens phosphatidylinositol glycan anchor biosynthesis class
            Q (PIGQ), transcript variant 2, mRNA.
ACCESSION   NM_004204
VERSION     NM_004204.5
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 2958)
  AUTHORS   Shekhar,B.R., Rupani,K., Parkar,S.R., Nayak,A.S., Kumbhar,B.V.,
            Khare,S.P., Menon,S., Gawde,H. and Das,D.K.
  TITLE     Identifying novel risk conferring genes involved in glycosylation
            processes with familial schizophrenia in an Indian cohort:
            Prediction of ADAMTS9 gene variant for structural stability
  JOURNAL   Gene 872, 147443 (2023)
   PUBMED   37105505
  REMARK    GeneRIF: Identifying novel risk conferring genes involved in
            glycosylation processes with familial schizophrenia in an Indian
            cohort: Prediction of ADAMTS9 gene variant for structural
            stability.
REFERENCE   2  (bases 1 to 2958)
  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 2958)
  AUTHORS   Johnstone,D.L., Nguyen,T.T.M., Zambonin,J., Kernohan,K.D.,
            St-Denis,A., Baratang,N.V., Hartley,T., Geraghty,M.T., Richer,J.,
            Majewski,J., Bareke,E., Guerin,A., Pendziwiat,M., Pena,L.D.M.,
            Braakman,H.M.H., Gripp,K.W., Edmondson,A.C., He,M., Spillmann,R.C.,
            Eklund,E.A., Bayat,A., McMillan,H.J., Boycott,K.M. and Campeau,P.M.
  TITLE     Early infantile epileptic encephalopathy due to biallelic
            pathogenic variants in PIGQ: Report of seven new subjects and
            review of the literature
  JOURNAL   J Inherit Metab Dis 43 (6), 1321-1332 (2020)
   PUBMED   32588908
  REMARK    Review article
            Erratum:[J Inherit Metab Dis. 2023 Jan;46(1):156. doi:
            10.1002/jimd.12362.. PMID: 36646502]
REFERENCE   4  (bases 1 to 2958)
  AUTHORS   Wang,X., Lopez,O.L., Sweet,R.A., Becker,J.T., DeKosky,S.T.,
            Barmada,M.M., Demirci,F.Y. and Kamboh,M.I.
  TITLE     Genetic determinants of disease progression in Alzheimer's disease
  JOURNAL   J Alzheimers Dis 43 (2), 649-655 (2015)
   PUBMED   25114068
  REMARK    GeneRIF: Genome-wide association analyses identified four
            suggestive loci (PAX3, CCRN4L, PIGQ, and ADAM19)determinants of
            disease progression in Alzheimer's disease
REFERENCE   5  (bases 1 to 2958)
  AUTHORS   Martin,H.C., Kim,G.E., Pagnamenta,A.T., Murakami,Y., Carvill,G.L.,
            Meyer,E., Copley,R.R., Rimmer,A., Barcia,G., Fleming,M.R.,
            Kronengold,J., Brown,M.R., Hudspith,K.A., Broxholme,J., Kanapin,A.,
            Cazier,J.B., Kinoshita,T., Nabbout,R., Bentley,D., McVean,G.,
            Heavin,S., Zaiwalla,Z., McShane,T., Mefford,H.C., Shears,D.,
            Stewart,H., Kurian,M.A., Scheffer,I.E., Blair,E., Donnelly,P.,
            Kaczmarek,L.K. and Taylor,J.C.
  CONSRTM   WGS500 Consortium
  TITLE     Clinical whole-genome sequencing in severe early-onset epilepsy
            reveals new genes and improves molecular diagnosis
  JOURNAL   Hum Mol Genet 23 (12), 3200-3211 (2014)
   PUBMED   24463883
  REMARK    GeneRIF: Genetic studies reveal two novel genes for Ohtahara
            Syndrome: KCNT1 and PIGQ.
REFERENCE   6  (bases 1 to 2958)
  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   7  (bases 1 to 2958)
  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   8  (bases 1 to 2958)
  AUTHORS   Hong,Y., Ohishi,K., Watanabe,R., Endo,Y., Maeda,Y. and Kinoshita,T.
  TITLE     GPI1 stabilizes an enzyme essential in the first step of
            glycosylphosphatidylinositol biosynthesis
  JOURNAL   J Biol Chem 274 (26), 18582-18588 (1999)
   PUBMED   10373468
REFERENCE   9  (bases 1 to 2958)
  AUTHORS   Tiede,A., Schubert,J., Nischan,C., Jensen,I., Westfall,B.,
            Taron,C.H., Orlean,P. and Schmidt,R.E.
  TITLE     Human and mouse Gpi1p homologues restore
            glycosylphosphatidylinositol membrane anchor biosynthesis in yeast
            mutants
  JOURNAL   Biochem J 334 (Pt 3) (Pt 3), 609-616 (1998)
   PUBMED   9729469
REFERENCE   10 (bases 1 to 2958)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA206420.1, BC006377.2,
            AB003723.1 and AK314361.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 30, 2019 this sequence version replaced NM_004204.4.
            
            Summary: This gene is involved in the first step 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 gene encodes a
            N-acetylglucosaminyl transferase component that is part of the
            complex that catalyzes transfer of N-acetylglucosamine (GlcNAc)
            from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jun 2012].
            
            Transcript Variant: This variant (2) has an additional exon in the
            3' coding region, which results in a frameshift and an early stop
            codon, compared to variant 1. The encoded isoform (2) is shorter
            and has a distinct C-terminus compared to 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 :: SRR18074969.3645385.1, AB003723.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000321878.10/ ENSP00000326674.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-50                DA206420.1         1-50
            51-576              BC006377.2         1-526
            577-776             AB003723.1         541-740
            777-1669            BC006377.2         727-1619
            1670-1884           AK314361.1         1699-1913
            1885-2958           BC006377.2         1773-2846
FEATURES             Location/Qualifiers
     source          1..2958
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..2958
                     /gene="PIGQ"
                     /gene_synonym="c407A10.1; DEE77; EIEE77; GPI1; GPIBD19;
                     MCAHS4"
                     /note="phosphatidylinositol glycan anchor biosynthesis
                     class Q"
                     /db_xref="GeneID:9091"
                     /db_xref="HGNC:HGNC:14135"
                     /db_xref="MIM:605754"
     exon            1..129
                     /gene="PIGQ"
                     /gene_synonym="c407A10.1; DEE77; EIEE77; GPI1; GPIBD19;
                     MCAHS4"
                     /inference="alignment:Splign:2.1.0"
     exon            130..827
                     /gene="PIGQ"
                     /gene_synonym="c407A10.1; DEE77; EIEE77; GPI1; GPIBD19;
                     MCAHS4"
                     /inference="alignment:Splign:2.1.0"
     CDS             139..1884
                     /gene="PIGQ"
                     /gene_synonym="c407A10.1; DEE77; EIEE77; GPI1; GPIBD19;
                     MCAHS4"
                     /EC_number="2.4.1.198"
                     /note="isoform 2 is encoded by transcript variant 2;
                     N-acetylglucosaminyl transferase component Gpi1;
                     phosphatidylinositol glycan, class Q; phosphatidylinositol
                     N-acetylglucosaminyltransferase subunit Q;
                     N-acetylglucosamyl transferase component GPI1; c407A10.1
                     (GPI1 (N-acetylglucosaminyl transferase component));
                     PIG-Q; phosphatidylinositol-glycan biosynthesis class Q
                     protein"
                     /codon_start=1
                     /product="phosphatidylinositol
                     N-acetylglucosaminyltransferase subunit Q isoform 2"
                     /protein_id="NP_004195.2"
                     /db_xref="CCDS:CCDS10412.1"
                     /db_xref="GeneID:9091"
                     /db_xref="HGNC:HGNC:14135"
                     /db_xref="MIM:605754"
                     /translation="MVLKAFFPTCCVSTDSGLLVGRWVPEQSSAVVLAVLHFPFIPIQ
                     VKQLLAQVRQASQVGVAVLGTWCHCRQEPEESLGRFLESLGAVFPHEPWLRLCRERGG
                     TFWSCEATHRQAPTAPGAPGEDQVMLIFYDQRQVLLSQLHLPTVLPDRQAGATTASTG
                     GLAAVFDTVARSEVLFRSDRFDEGPVRLSHWQSEGVEASILAELARRASGPICLLLAS
                     LLSLVSAVSACRVFKLWPLSFLGSKLSTCEQLRHRLEHLTLIFSTRKAENPAQLMRKA
                     NTVASVLLDVALGLMLLSWLHGRSRIGHLADALVPVADHVAEELQHLLQWLMGAPAGL
                     KMNRALDQVLGRFFLYHIHLWISYIHLMSPFVEHILWHVGLSACLGLTVALSLLSDII
                     ALLTFHIYCFYVYGARLYCLKIHGLSSLWRLFRGKKWNVLRQRVDSCSYDLDQLFIGT
                     LLFTILLFLLPTTALYYLVFTLLRLLVVAVQGLIHLLVDLINSLPLYSLGLRLCRPYR
                     LAAGVKFRVLRHEAGRPLRLLMQINPLPYSRVVHTYRLPSCGCHPKHSWGALCRKLFL
                     GELIYPWRQRGDKQD"
     exon            828..959
                     /gene="PIGQ"
                     /gene_synonym="c407A10.1; DEE77; EIEE77; GPI1; GPIBD19;
                     MCAHS4"
                     /inference="alignment:Splign:2.1.0"
     exon            960..1080
                     /gene="PIGQ"
                     /gene_synonym="c407A10.1; DEE77; EIEE77; GPI1; GPIBD19;
                     MCAHS4"
                     /inference="alignment:Splign:2.1.0"
     exon            1081..1207
                     /gene="PIGQ"
                     /gene_synonym="c407A10.1; DEE77; EIEE77; GPI1; GPIBD19;
                     MCAHS4"
                     /inference="alignment:Splign:2.1.0"
     exon            1208..1361
                     /gene="PIGQ"
                     /gene_synonym="c407A10.1; DEE77; EIEE77; GPI1; GPIBD19;
                     MCAHS4"
                     /inference="alignment:Splign:2.1.0"
     exon            1362..1473
                     /gene="PIGQ"
                     /gene_synonym="c407A10.1; DEE77; EIEE77; GPI1; GPIBD19;
                     MCAHS4"
                     /inference="alignment:Splign:2.1.0"
     exon            1474..1554
                     /gene="PIGQ"
                     /gene_synonym="c407A10.1; DEE77; EIEE77; GPI1; GPIBD19;
                     MCAHS4"
                     /inference="alignment:Splign:2.1.0"
     exon            1555..1669
                     /gene="PIGQ"
                     /gene_synonym="c407A10.1; DEE77; EIEE77; GPI1; GPIBD19;
                     MCAHS4"
                     /inference="alignment:Splign:2.1.0"
     exon            1670..1731
                     /gene="PIGQ"
                     /gene_synonym="c407A10.1; DEE77; EIEE77; GPI1; GPIBD19;
                     MCAHS4"
                     /inference="alignment:Splign:2.1.0"
     exon            1732..2958
                     /gene="PIGQ"
                     /gene_synonym="c407A10.1; DEE77; EIEE77; GPI1; GPIBD19;
                     MCAHS4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2935..2940
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PIGQ"
                     /gene_synonym="c407A10.1; DEE77; EIEE77; GPI1; GPIBD19;
                     MCAHS4"
                     /note="hexamer: AATAAA"
     polyA_site      2958
                     /gene="PIGQ"
                     /gene_synonym="c407A10.1; DEE77; EIEE77; GPI1; GPIBD19;
                     MCAHS4"
                     /note="major polyA site"
ORIGIN      
        1 ggaagtgggg ctcgggtccc gcggcggggc tggaggcagc gagcgccgtc gtctgcccgg
       61 gcccgcccat cggggtcccc aaccccatcc ggaccccgcc gcccgagcgc gcggccccgg
      121 aagcacccgc ctcccggcat ggtgctcaag gccttcttcc ccacgtgctg cgtctcgacg
      181 gacagcgggc tgctggtggg acggtgggtg ccggagcaga gcagcgccgt ggtcctggcg
      241 gtcctgcact ttcccttcat ccccatccag gtcaagcagc tcctggccca ggtgcggcag
      301 gccagccagg tgggcgtggc cgtgctgggc acctggtgcc actgccggca ggagcccgag
      361 gagagcctgg gccgcttcct ggagagcctg ggtgctgtct tcccccatga gccctggctg
      421 cggctgtgcc gggagagagg cggcacgttc tggagctgcg aggccaccca ccggcaagcg
      481 cccactgccc ccggtgcccc tggtgaggac caggtcatgc tcatcttcta tgaccagcgc
      541 caggtgttgc tgtcacagct acacctgccc accgtcctgc ccgaccgcca ggctggagcc
      601 accactgcca gcacgggggg cctggctgcc gtcttcgaca cggtagcacg cagtgaggtg
      661 ctcttccgca gtgaccgctt tgatgagggc cccgtgcggc tgagccactg gcagtcggag
      721 ggcgtggagg ccagcatcct cgcggagctg gccaggcgag cctcgggacc catttgcctg
      781 ctgttggcca gcctgctgtc gctggtctca gctgtcagtg cctgccgagt gttcaagctc
      841 tggcccctgt ccttcctcgg gagcaaactc tccacgtgcg aacagctccg gcaccggctg
      901 gagcacctca cgctaatctt cagtacacgg aaggcggaga accctgccca gctgatgagg
      961 aaggccaaca cggtggcctc tgtgctgctg gacgtggccc tgggcctcat gctgctgtcc
     1021 tggctccacg ggagaagccg catcgggcat ctggccgacg ccctcgttcc tgtggctgac
     1081 cacgtggccg aggagctcca gcatctgctg cagtggctga tgggtgctcc cgccgggctc
     1141 aagatgaacc gtgcactgga ccaggtgctg ggccgcttct tcctctacca catccacctg
     1201 tggatcagct acatccacct catgtccccc ttcgtggagc acatcctttg gcacgtgggc
     1261 ctctcggcct gcctgggcct gacggtggcc ctgtccctcc tctcggacat tatcgccctc
     1321 ctcaccttcc acatctactg cttttacgtc tatggagcca ggctgtactg cctgaagatc
     1381 catggcctgt cctcactgtg gcgtctgttc cgggggaaga agtggaacgt tctgcgccag
     1441 cgcgtggact cctgttccta tgacctggac cagctgttca tcgggactct gctcttcacc
     1501 atcctgctct tcctcctgcc taccacagcc ctgtactacc tggtgttcac cctgctccgg
     1561 ctcctggtgg tcgccgtgca gggcctgatc catctgctcg tggacctcat caactccctg
     1621 ccgctgtact cactgggtct tcggctctgc cggccctaca ggctggcggc tggcgtgaag
     1681 ttccgtgtcc tccggcacga ggccggcagg cccctccgcc tcctgatgca gataaaccca
     1741 ctgccctaca gccgcgtggt gcacacctac cgcctcccca gctgtggctg ccaccccaag
     1801 cactcctggg gcgccctgtg ccgcaagctg ttccttgggg agctcatcta cccctggagg
     1861 cagagagggg acaagcagga ctgagggaac tgctggctcg cctggcacca ccacacggcc
     1921 acagccagcc atctgctctg ccagggtggc accagctcag ctggcgcatg tcctgtgctt
     1981 tgtggacgct gctgtgtgct cctgaacacg gcaggccctg ctatcacacc ttgggcttgg
     2041 aggtcattgg gagtgagcag atgtgggggt ggccagccag gctggccgca ctccatcact
     2101 ggcactgcct gccttgggac ccgcttccca cctgctgcgg tcaccatggt ggcgagcaca
     2161 gcaaccccag gtgtccagag cactgcccca tgcccaccct gtgtacccag gtccagaggg
     2221 tccgtccacc acagcagccc caggtggagg gctggtctcc ctgggggctc cccagtggct
     2281 ctgccctggc tgtgggggtg gagggacctt gccaggatga accccccagt cccaggcacc
     2341 ctctagctcc ctcagccgaa cagcaccctg catctggggg attgaagcag tcgctgaccc
     2401 ccgtccccag cgggcccggg ccctcactcc ctgaaccaca cggggtttat ttgcggatgt
     2461 tccctggaga ggtcgctttg tgaagaaacc atcagcaggc tgtgagcatc gccaggctgc
     2521 tgtgggggcg ggagcagcct cagtgtcaag ggcccgccca ctgacccagc cgtacctatt
     2581 cgtccacggt gccccgtagc agcaggtcct gcggccaaat ctgtctccct tcatgggcct
     2641 cccagggaag gaggaagccc tgctgtgcag acacctctgt ggccccccag gagtgtgagt
     2701 ggcctgggga gggggccgtg gcactgaggc cgaaagtgcc tgccagacgg cacggtctgg
     2761 gtgcgggtgt tccctgtgag cccgagtccg cttcaggagg ggagcctgca ggtgccggct
     2821 ggtgagggga tgacgcgctg tgggtgggag gaggcagcgc ccatctcagc agcaccagga
     2881 ctgcctggga ctccctggca acccagcacc ggggaagccg tcagctgctg tgacaataaa
     2941 acctgccccg tgtctgga
//
