LOCUS       NM_001411175            1495 bp    mRNA    linear   ROD 24-DEC-2024
DEFINITION  Mus musculus glycogenin 1 (Gyg1), transcript variant 6, mRNA.
ACCESSION   NM_001411175
VERSION     NM_001411175.1
KEYWORDS    RefSeq.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1495)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 1495)
  AUTHORS   Bedogni,F. and Hevner,R.F.
  TITLE     Cell-Type-Specific Gene Expression in Developing Mouse Neocortex:
            Intermediate Progenitors Implicated in Axon Development
  JOURNAL   Front Mol Neurosci 14, 686034 (2021)
   PUBMED   34321999
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1495)
  AUTHORS   Testoni,G., Olmeda,B., Duran,J., Lopez-Rodriguez,E., Aguilera,M.,
            Hernandez-Alvarez,M.I., Prats,N., Perez-Gil,J. and Guinovart,J.J.
  TITLE     Pulmonary glycogen deficiency as a new potential cause of
            respiratory distress syndrome
  JOURNAL   Hum Mol Genet 29 (21), 3554-3565 (2021)
   PUBMED   33219378
  REMARK    GeneRIF: Pulmonary glycogen deficiency as a new potential cause of
            respiratory distress syndrome.
REFERENCE   4  (bases 1 to 1495)
  AUTHORS   Zeqiraj,E. and Sicheri,F.
  TITLE     Getting a handle on glycogen synthase - Its interaction with
            glycogenin
  JOURNAL   Mol Aspects Med 46, 63-69 (2015)
   PUBMED   26278983
  REMARK    Review article
REFERENCE   5  (bases 1 to 1495)
  AUTHORS   Boj,S.F., van Es,J.H., Huch,M., Li,V.S., Jose,A., Hatzis,P.,
            Mokry,M., Haegebarth,A., van den Born,M., Chambon,P., Voshol,P.,
            Dor,Y., Cuppen,E., Fillat,C. and Clevers,H.
  TITLE     Diabetes risk gene and Wnt effector Tcf7l2/TCF4 controls hepatic
            response to perinatal and adult metabolic demand
  JOURNAL   Cell 151 (7), 1595-1607 (2012)
   PUBMED   23260145
REFERENCE   6  (bases 1 to 1495)
  AUTHORS   Douillard-Guilloux,G., Raben,N., Takikita,S., Batista,L.,
            Caillaud,C. and Richard,E.
  TITLE     Modulation of glycogen synthesis by RNA interference: towards a new
            therapeutic approach for glycogenosis type II
  JOURNAL   Hum Mol Genet 17 (24), 3876-3886 (2008)
   PUBMED   18782850
  REMARK    GeneRIF: Injection of recombinant adeno-associated virus-1 vector
            expressing glycogen synthase short hairpin ribonucleic acids into
            mice with type II glycogen storage disease leads to significant
            reduction in impaired glycogen accumulation.
REFERENCE   7  (bases 1 to 1495)
  AUTHORS   Katz,A.
  TITLE     Glycogenin, proglycogen, and glycogen biogenesis: what's the story?
  JOURNAL   Am J Physiol Endocrinol Metab 290 (4), E757-8;authorreplyE758-9
            (2006)
   PUBMED   16533952
REFERENCE   8  (bases 1 to 1495)
  AUTHORS   Suzuki,T., Li,W., Zhang,Q., Novak,E.K., Sviderskaya,E.V.,
            Wilson,A., Bennett,D.C., Roe,B.A., Swank,R.T. and Spritz,R.A.
  TITLE     The gene mutated in cocoa mice, carrying a defect of organelle
            biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3
            gene
  JOURNAL   Genomics 78 (1-2), 30-37 (2001)
   PUBMED   11707070
REFERENCE   9  (bases 1 to 1495)
  AUTHORS   van Maanen,M., Fournier,P.A., Palmer,T.N. and Abraham,L.J.
  TITLE     Characterization of mouse glycogenin-1 cDNA and promoter region
  JOURNAL   Biochim Biophys Acta 1447 (2-3), 284-290 (1999)
   PUBMED   10542328
REFERENCE   10 (bases 1 to 1495)
  AUTHORS   Burns,R.P. Jr., Natarajan,K., LoCascio,N.J., O'Brien,D.P.,
            Kobori,J.A., Shastri,N. and Barth,R.K.
  TITLE     Molecular analysis of skewed Tcra-V gene use in T-cell receptor
            beta-chain transgenic mice
  JOURNAL   Immunogenetics 47 (2), 107-114 (1998)
   PUBMED   9396856
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC158937.5.
            
            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 :: SRR17253014.4461494.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMN00849374,
                                           SAMN00849375 [ECO:0000350]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-67                AC158937.5         134652-134718
            68-203              AC158937.5         136851-136986
            204-378             AC158937.5         138589-138763
            379-494             AC158937.5         151584-151699
            495-714             AC158937.5         164239-164458
            715-1495            AC158937.5         166852-167632
FEATURES             Location/Qualifiers
     source          1..1495
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="3"
                     /map="3 6.19 cM"
     gene            1..1495
                     /gene="Gyg1"
                     /gene_synonym="GN1; Gyg"
                     /note="glycogenin 1"
                     /db_xref="GeneID:27357"
                     /db_xref="MGI:MGI:1351614"
     exon            1..67
                     /gene="Gyg1"
                     /gene_synonym="GN1; Gyg"
                     /inference="alignment:Splign:2.1.0"
     CDS             61..888
                     /gene="Gyg1"
                     /gene_synonym="GN1; Gyg"
                     /EC_number="2.4.1.186"
                     /note="isoform 6 is encoded by transcript variant 6;
                     glycogenin"
                     /codon_start=1
                     /product="glycogenin-1 isoform 6"
                     /protein_id="NP_001398104.1"
                     /db_xref="GeneID:27357"
                     /db_xref="MGI:MGI:1351614"
                     /translation="

MTDQAFVTLTTNDAYAKGALVLGSSLKQHRTTRRMVVLTSPQVSDSMRKVLETVFDDVIMVDVLDSGDSAHLTLMKRPELGITLTKLHCWSLTQYSKCVFMDADTLGLLNTYFSGWATTDITKHLPFVYNLSSISIYSYLPAFKAFGKNAKVVHFLGRTKPWNYTYNPQTKSVNCDSQDPTVSHPEFLNLWWDTFTTNVLPLLQHHGLVKDASSYLMMEHVSGALSDLSFGEAPAAPQPSMSSEERKERWEQGQADYMGADSFDNIKRKLDTYLQ"

     misc_feature    64..66
                     /gene="Gyg1"
                     /gene_synonym="GN1; Gyg"
                     /note="N-acetylthreonine.
                     /evidence=ECO:0000250|UniProtKB:P46976; propagated from
                     UniProtKB/Swiss-Prot (Q9R062.3); acetylation site"
     misc_feature    70..648
                     /gene="Gyg1"
                     /gene_synonym="GN1; Gyg"
                     /note="Glycogenin belongs the GT 8 family and initiates
                     the biosynthesis of glycogen; Region: GT8_Glycogenin;
                     cd02537"
                     /db_xref="CDD:133018"
     misc_feature    190..192
                     /gene="Gyg1"
                     /gene_synonym="GN1; Gyg"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P13280; propagated from
                     UniProtKB/Swiss-Prot (Q9R062.3); phosphorylation site"
     misc_feature    316..318
                     /gene="Gyg1"
                     /gene_synonym="GN1; Gyg"
                     /note="Important for catalytic activity.
                     /evidence=ECO:0000250|UniProtKB:P13280; propagated from
                     UniProtKB/Swiss-Prot (Q9R062.3); other site"
     misc_feature    order(364..366,370..372,520..522)
                     /gene="Gyg1"
                     /gene_synonym="GN1; Gyg"
                     /note="Manganese binding site [active]"
                     /db_xref="CDD:133018"
     exon            68..203
                     /gene="Gyg1"
                     /gene_synonym="GN1; Gyg"
                     /inference="alignment:Splign:2.1.0"
     exon            204..378
                     /gene="Gyg1"
                     /gene_synonym="GN1; Gyg"
                     /inference="alignment:Splign:2.1.0"
     exon            379..494
                     /gene="Gyg1"
                     /gene_synonym="GN1; Gyg"
                     /inference="alignment:Splign:2.1.0"
     exon            495..714
                     /gene="Gyg1"
                     /gene_synonym="GN1; Gyg"
                     /inference="alignment:Splign:2.1.0"
     exon            715..1495
                     /gene="Gyg1"
                     /gene_synonym="GN1; Gyg"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1476..1481
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Gyg1"
                     /gene_synonym="GN1; Gyg"
                     /note="hexamer: AATAAA"
     polyA_site      1495
                     /gene="Gyg1"
                     /gene_synonym="GN1; Gyg"
                     /note="major polyA site"
ORIGIN      

ctccctgctggccgcggtcacctaccggcgcccggctcctccgacccacccggccacactatgacagatcaggcttttgtgacgctgaccacaaacgatgcctatgccaaaggtgcgctggtcctgggctcatctttgaaacagcacaggactactaggaggatggttgtactcaccagcccacaggtttcagactccatgagaaaagttttagagactgtctttgatgacgtcatcatggtagatgtcttggacagtggtgattctgctcatctaaccttaatgaagagacctgagttgggcatcacattgactaaactccactgctggtcacttactcagtattccaaatgtgtgttcatggatgcagatactctgggcctactgaatacatattttagtggctgggcaacgacagatatcacaaaacacctgccatttgtgtataacctaagcagcatttcaatatactcctacctcccggcatttaaagcgtttggtaaaaatgccaaagttgtgcacttcctgggacgaaccaagccatggaattacacttataacccccaaacaaaaagtgtcaactgtgactcccaggacccaaccgtgagtcacccagagtttctgaacctgtggtgggacaccttcaccaccaacgtcttacccctgctccaacaccatggccttgtcaaagatgccagctcctatctaatgatggaacatgtctcaggagccttgtcagacctgtcctttggggaggccccagctgcaccacaaccttctatgtcctcagaagaaaggaaggaacggtgggaacagggccaggccgattacatgggagcagattcttttgataacatcaagagaaaacttgacacttacctgcaatagaagcactgccattttcctgtggacacacccatgtcttaggcacgtttccatacatagtatgtgaagtctgttacagttgttagaggctttcactaaacctcatcagatgaggggtttgggcaggacaacaggtgagaactgggcaaatgttattaggtcgtaattccatcatgtggacaagtgttctgtttaaccctagactttttttttttaattctcaattcttaaattgccaatgtgtgataaaagaaagccaacattaagctactaagatggctctctcaagtggtgcataacttgactctccatcttcaaaacaaggtgtgacattttccaatcttcacttgttgcatccttcacaagacctgcaatgtagaactgctcaaagcctgtcagagaagtagccttccagactaaagtggcctttattaacactgcggagtgattcctaagcctaccagctagtgttagttcaccagttttctatgcaccgtgaaggcagcatgcagacttgttctttctcagttgtctacttgaaaattgcagtgtgctctctgatggtagctgtggtagcactgtgtataacaaataaacacttattgacata

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