LOCUS       NM_028803               2988 bp    mRNA    linear   ROD 06-DEC-2024
DEFINITION  Mus musculus 1,4-alpha-glucan branching enzyme 1 (Gbe1), mRNA.
ACCESSION   NM_028803
VERSION     NM_028803.4
KEYWORDS    RefSeq; RefSeq Select.
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 2988)
  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 2988)
  AUTHORS   Mitra,S., Chen,B., Wang,P., Chown,E.E., Dear,M., Guisso,D.R.,
            Mariam,U., Wu,J., Gumusgoz,E. and Minassian,B.A.
  TITLE     Laforin targets malin to glycogen in Lafora progressive myoclonus
            epilepsy
  JOURNAL   Dis Model Mech 16 (1) (2023)
   PUBMED   36511140
REFERENCE   3  (bases 1 to 2988)
  AUTHORS   Malinska,D., Testoni,G., Bejtka,M., Duran,J., Guinovart,J.J. and
            Duszynski,J.
  TITLE     Alteration of mitochondrial function in the livers of mice with
            glycogen branching enzyme deficiency
  JOURNAL   Biochimie 186, 28-32 (2021)
   PUBMED   33857563
  REMARK    GeneRIF: Alteration of mitochondrial function in the livers of mice
            with glycogen branching enzyme deficiency.
REFERENCE   4  (bases 1 to 2988)
  AUTHORS   Malinska,D., Testoni,G., Duran,J., Brudnicka,A., Guinovart,J.J. and
            Duszynski,J.
  TITLE     Hallmarks of oxidative stress in the livers of aged mice with mild
            glycogen branching enzyme deficiency
  JOURNAL   Arch Biochem Biophys 695, 108626 (2020)
   PUBMED   33049291
  REMARK    GeneRIF: Hallmarks of oxidative stress in the livers of aged mice
            with mild glycogen branching enzyme deficiency.
REFERENCE   5  (bases 1 to 2988)
  AUTHORS   Roberts,G.A.G. and Tunster,S.J.
  TITLE     Characterising the dynamics of placental glycogen stores in the
            mouse
  JOURNAL   Placenta 99, 131-140 (2020)
   PUBMED   32798765
REFERENCE   6  (bases 1 to 2988)
  AUTHORS   Lee,Y.C., Chang,C.J., Bali,D., Chen,Y.T. and Yan,Y.T.
  TITLE     Glycogen-branching enzyme deficiency leads to abnormal cardiac
            development: novel insights into glycogen storage disease IV
  JOURNAL   Hum Mol Genet 20 (3), 455-465 (2011)
   PUBMED   21075835
  REMARK    GeneRIF: results reveal that early molecular events associated with
            Gbe1 deficiency contribute to abnormal cardiac development and
            fetal hydrops in the fetal form of glycogen storage disease type IV
REFERENCE   7  (bases 1 to 2988)
  AUTHORS   Pescador,N., Villar,D., Cifuentes,D., Garcia-Rocha,M.,
            Ortiz-Barahona,A., Vazquez,S., Ordonez,A., Cuevas,Y.,
            Saez-Morales,D., Garcia-Bermejo,M.L., Landazuri,M.O., Guinovart,J.
            and del Peso,L.
  TITLE     Hypoxia promotes glycogen accumulation through hypoxia inducible
            factor (HIF)-mediated induction of glycogen synthase 1
  JOURNAL   PLoS One 5 (3), e9644 (2010)
   PUBMED   20300197
  REMARK    GeneRIF: GYS1 regulation by HIF plays a central role in the hypoxic
            accumulation of glycogen, and hypoxia also upregulates the
            expression of UTP:glucose-1-phosphate urydylyltransferase (UGP2)
            and 1,4-alpha glucan branching enzyme (GBE1)
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 2988)
  AUTHORS   Tunster,S.J., Tycko,B. and John,R.M.
  TITLE     The imprinted Phlda2 gene regulates extraembryonic energy stores
  JOURNAL   Mol Cell Biol 30 (1), 295-306 (2010)
   PUBMED   19884348
REFERENCE   9  (bases 1 to 2988)
  AUTHORS   Liu,S.P., Li,Y.S., Chen,Y.J., Chiang,E.P., Li,A.F., Lee,Y.H.,
            Tsai,T.F., Hsiao,M., Huang,S.F. and Chen,Y.M.
  TITLE     Glycine N-methyltransferase-/- mice develop chronic hepatitis and
            glycogen storage disease in the liver
  JOURNAL   Hepatology 46 (5), 1413-1425 (2007)
   PUBMED   17937387
  REMARK    Erratum:[Hepatology. 2008 Feb;47(2):769. Hwang, Shiu-Feng
            [corrected to Huang, Shiu-Feng]]
REFERENCE   10 (bases 1 to 2988)
  AUTHORS   Augustin,M., Sedlmeier,R., Peters,T., Huffstadt,U., Kochmann,E.,
            Simon,D., Schoniger,M., Garke-Mayerthaler,S., Laufs,J., Mayhaus,M.,
            Franke,S., Klose,M., Graupner,A., Kurzmann,M., Zinser,C., Wolf,A.,
            Voelkel,M., Kellner,M., Kilian,M., Seelig,S., Koppius,A.,
            Teubner,A., Korthaus,D., Nehls,M. and Wattler,S.
  TITLE     Efficient and fast targeted production of murine models based on
            ENU mutagenesis
  JOURNAL   Mamm Genome 16 (6), 405-413 (2005)
   PUBMED   16075367
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC167563.3, AK050365.1, AI182082.1 and AC154304.1.
            
            On Feb 12, 2013 this sequence version replaced NM_028803.3.
            
            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 :: AK050365.1, BC017541.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849375, SAMN00849380
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-114               AC167563.3         126400-126513       c
            115-2635            AK050365.1         2-2522
            2636-2984           AI182082.1         16-364              c
            2985-2988           AC154304.1         6413-6416           c
FEATURES             Location/Qualifiers
     source          1..2988
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="16"
                     /map="16 40.19 cM"
     gene            1..2988
                     /gene="Gbe1"
                     /gene_synonym="2310045H19Rik; 2810426P10Rik; D16Ertd536e"
                     /note="1,4-alpha-glucan branching enzyme 1"
                     /db_xref="GeneID:74185"
                     /db_xref="MGI:MGI:1921435"
     exon            1..347
                     /gene="Gbe1"
                     /gene_synonym="2310045H19Rik; 2810426P10Rik; D16Ertd536e"
                     /inference="alignment:Splign:2.1.0"
     CDS             205..2313
                     /gene="Gbe1"
                     /gene_synonym="2310045H19Rik; 2810426P10Rik; D16Ertd536e"
                     /EC_number="2.4.1.18"
                     /note="brancher enzyme; glycogen-branching enzyme; glucan
                     (1,4-alpha-), branching enzyme 1"
                     /codon_start=1
                     /product="1,4-alpha-glucan-branching enzyme"
                     /protein_id="NP_083079.1"
                     /db_xref="GeneID:74185"
                     /db_xref="MGI:MGI:1921435"
                     /translation="MAAPAAPAAGETGPDARLEAALADVPELARLLEIDPYLKPFAAD
                     FQRRYKKFSQVLHDIGENEGGIDKFSRGYESFGIHRCSDGGIYCKEWAPGAEGVFLTG
                     EFSGWNPFSHPYKKLEYGKWELYIPPKQNKSPLIPHGSKLKVVITSKSGEILYRISPW
                     AKYVVRENNNVNYDWIHWAPEDPYKFKHSRPKKPRSLRIYESHVGISSHEGKIASYKH
                     FTSNVLPRIKDLGYNCIQLMAIMEHAYYASFGYQITSFFAASSRYGTPEELKELVDTA
                     HSMGIVVLLDVVHSHASKNSEDGLNMFDGTDSCYFHSGPRGTHDLWDSRLFIYSSWEV
                     LRFLLSNIRWWLEEYCFDGFRFDGVTSMLYHHHGMGQGFSGDYNEYFGLQVDEDALIY
                     LMLANHLAHTLYPDSITIAEDVSGMPALCSPTSQGGGGFDYRLAMAIPDKWIQLLKEF
                     KDEDWNMGNIVYTLTNRRYLEKCVAYAESHDQALVGDKTLAFWLMDAEMYTNMSVLAP
                     FTPVIDRGIQLHKMIRLITHGLGGEGYLNFMGNEFGHPEWLDFPRKGNNESYHYARRQ
                     FNLTDDDLLRYKFLNNFDRDMNRLEERCGWLSAPQAYVSEKHEANKTITFERAGLLFI
                     FNFHPSKSYTDYRVGTATPGKFKIVLDSDAAEYGGHQRLDHNTNYFAEAFEHNGRPYS
                     LLVYIPSRVALILQNVDLQN"
     exon            348..517
                     /gene="Gbe1"
                     /gene_synonym="2310045H19Rik; 2810426P10Rik; D16Ertd536e"
                     /inference="alignment:Splign:2.1.0"
     exon            518..633
                     /gene="Gbe1"
                     /gene_synonym="2310045H19Rik; 2810426P10Rik; D16Ertd536e"
                     /inference="alignment:Splign:2.1.0"
     exon            634..759
                     /gene="Gbe1"
                     /gene_synonym="2310045H19Rik; 2810426P10Rik; D16Ertd536e"
                     /inference="alignment:Splign:2.1.0"
     exon            760..895
                     /gene="Gbe1"
                     /gene_synonym="2310045H19Rik; 2810426P10Rik; D16Ertd536e"
                     /inference="alignment:Splign:2.1.0"
     exon            896..986
                     /gene="Gbe1"
                     /gene_synonym="2310045H19Rik; 2810426P10Rik; D16Ertd536e"
                     /inference="alignment:Splign:2.1.0"
     exon            987..1196
                     /gene="Gbe1"
                     /gene_synonym="2310045H19Rik; 2810426P10Rik; D16Ertd536e"
                     /inference="alignment:Splign:2.1.0"
     exon            1197..1312
                     /gene="Gbe1"
                     /gene_synonym="2310045H19Rik; 2810426P10Rik; D16Ertd536e"
                     /inference="alignment:Splign:2.1.0"
     exon            1313..1440
                     /gene="Gbe1"
                     /gene_synonym="2310045H19Rik; 2810426P10Rik; D16Ertd536e"
                     /inference="alignment:Splign:2.1.0"
     exon            1441..1539
                     /gene="Gbe1"
                     /gene_synonym="2310045H19Rik; 2810426P10Rik; D16Ertd536e"
                     /inference="alignment:Splign:2.1.0"
     exon            1540..1650
                     /gene="Gbe1"
                     /gene_synonym="2310045H19Rik; 2810426P10Rik; D16Ertd536e"
                     /inference="alignment:Splign:2.1.0"
     exon            1651..1822
                     /gene="Gbe1"
                     /gene_synonym="2310045H19Rik; 2810426P10Rik; D16Ertd536e"
                     /inference="alignment:Splign:2.1.0"
     exon            1823..2007
                     /gene="Gbe1"
                     /gene_synonym="2310045H19Rik; 2810426P10Rik; D16Ertd536e"
                     /inference="alignment:Splign:2.1.0"
     exon            2008..2138
                     /gene="Gbe1"
                     /gene_synonym="2310045H19Rik; 2810426P10Rik; D16Ertd536e"
                     /inference="alignment:Splign:2.1.0"
     exon            2139..2256
                     /gene="Gbe1"
                     /gene_synonym="2310045H19Rik; 2810426P10Rik; D16Ertd536e"
                     /inference="alignment:Splign:2.1.0"
     exon            2257..2988
                     /gene="Gbe1"
                     /gene_synonym="2310045H19Rik; 2810426P10Rik; D16Ertd536e"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2959..2964
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Gbe1"
                     /gene_synonym="2310045H19Rik; 2810426P10Rik; D16Ertd536e"
                     /note="hexamer: AATAAA"
     polyA_site      2979
                     /gene="Gbe1"
                     /gene_synonym="2310045H19Rik; 2810426P10Rik; D16Ertd536e"
                     /note="major polyA site"
ORIGIN      
        1 agggctccag gggccggccc cgtgagtggg cgggggcccg cgctgaggac gtgtgtcccg
       61 ggctcaccct ggcccgctcc gccgctataa agggcaagtc cccggcggct cgcctaggct
      121 cgcccggctc cgccctgccg ctcgcactcc actcggccca ctcgaccctc tcgggcctcg
      181 gctactcggg ctgctgcggc gaagatggcg gcgccggcgg ctcctgcggc aggggaaacg
      241 ggccccgatg ctcgtctgga ggccgccttg gccgacgtgc cggagctggc ccgactcctg
      301 gagattgacc cgtacctgaa gcccttcgcc gcggacttcc agcgcaggta taagaagttt
      361 agccaggttt tgcatgacat tggagagaat gaaggtggga tcgataagtt ctccagaggc
      421 tatgagtcat ttggcatcca cagatgttct gatggtggca tctactgcaa agaatgggcc
      481 ccaggagcag aaggagtttt tcttactgga gaattcagtg gttggaatcc attttctcac
      541 ccatataaaa agctggaata cggaaaatgg gagctgtata tcccacccaa gcagaacaaa
      601 tcccccctga tacctcatgg gtccaagctg aaggtagtta ttactagtaa gagtggcgag
      661 atactgtatc gcatttcccc atgggcaaag tatgtggttc gtgagaacaa caacgtgaac
      721 tatgattgga tacactgggc tccagaagac ccctataaat tcaagcattc cagacctaag
      781 aaaccaagaa gcctaagaat ttatgaatct catgtgggaa tttcttccca cgaaggaaaa
      841 atagcttctt acaaacattt taccagcaat gtactaccaa gaatcaaaga ccttgggtat
      901 aactgcattc agttgatggc gatcatggaa catgcttact atgccagttt tgggtaccaa
      961 atcacgagct tttttgcagc ttcaagtcgt tatggaactc ctgaagagct gaaagaactt
     1021 gttgacacag cacattcgat gggcattgta gtcctcctag atgtggttca tagccatgct
     1081 tcaaaaaatt cagaagatgg gttaaacatg tttgatggga ccgattcctg ttattttcac
     1141 tctggacccc gagggaccca tgatctttgg gacagtagat tatttatcta ttccagctgg
     1201 gaagttttaa gattccttct gtcgaacata agatggtggt tggaggagta ctgctttgat
     1261 ggcttccgtt ttgatggtgt cacctctatg ctctatcatc accacggaat gggtcaaggt
     1321 ttttcgggtg actataatga atattttgga ctacaagtag atgaagatgc tttgatttat
     1381 ctcatgttgg caaatcattt ggctcacacg ttgtacccag actcgataac aatagcagag
     1441 gatgtatcag ggatgccggc tctctgttct ccaacttccc agggaggcgg tggttttgac
     1501 tacagattag caatggctat tccagataaa tggatccaat tacttaagga atttaaagat
     1561 gaagactgga atatgggcaa tatagtgtat actctcacca atcgacgcta ccttgaaaaa
     1621 tgtgtggctt atgcagagag tcatgatcag gcattggttg gtgacaagac actggcgttt
     1681 tggttgatgg acgctgagat gtacacgaac atgagcgttc tggccccttt cactccagta
     1741 attgatcgag gaatacagct tcataagatg attcgtctca tcactcacgg gctcggtgga
     1801 gaaggctatc tcaatttcat gggtaatgag tttgggcatc ctgaatggtt ggacttccca
     1861 aggaaaggaa ataatgagag ttaccattat gccagaaggc agtttaattt aaccgacgat
     1921 gaccttcttc gctataagtt cctaaataac tttgacagag atatgaatag actggaagaa
     1981 agatgtggtt ggctttcagc tccacaggcc tacgtgagtg aaaaacatga agccaataag
     2041 acaatcacct ttgagagagc aggacttctc tttattttca acttccaccc aagcaagagc
     2101 tatacggact accgagtcgg gacagcaaca ccagggaagt tcaaaattgt actagattct
     2161 gacgcagcgg agtatggagg tcatcagaga ctggaccaca acaccaacta ctttgctgag
     2221 gcttttgaac ataatgggcg cccctattct cttctggtgt acattccaag ccgagtggct
     2281 ctcatccttc agaatgtgga tctgcaaaac tgaagagacc tacactcagc ccatctcacg
     2341 ccgacgtgtt gccgctgatc cccctcacag tgttgatagc gtgtaagctt tgcaaaacac
     2401 tgctgtctag ccaaaacatc aggctggaac tcagcgttgg aatacgcaaa catataagtt
     2461 gcttatgaag gatgtgctta aaatattagc aacgtctatt tcaaagccat ccaagaaatt
     2521 aggatttgca aatgaagtgt agcacatgat aatttttaaa tattactttt ctggcaaagc
     2581 attcgattct ttcattttaa atttgaatta ttcatcaggc atgattattt tggctgtagt
     2641 aaaaatattt tttgagatag atatttggtg gccttatttg ttctatatct acttgtctta
     2701 atgatgaggt actgagtttg tttctttgct gtgtttttta attgtgttta gaaatactgt
     2761 attaaacaca tagcactaat ataaaatgag aatcttataa aagatgatat aaaaattcgt
     2821 atctgtgcct cactttgcat taagttctat cttgtactct cctgtccgta tactgtttca
     2881 gtagacgctg atatttcact cttctgaaga cttgaagtgg tcattgtagc atttctgata
     2941 atgtctttca ctttcatcaa taaaaagaaa aatgccaaat tgcattga
//
