LOCUS       NM_001100502            2937 bp    mRNA    linear   ROD 22-MAR-2023
DEFINITION  Rattus norvegicus 1,4-alpha-glucan branching enzyme 1 (Gbe1), mRNA.
ACCESSION   NM_001100502 XM_001064453 XM_221747
VERSION     NM_001100502.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 2937)
  AUTHORS   Radhakrishnan P, Moirangthem A, Nayak SS, Shukla A, Mathew M and
            Girisha KM.
  TITLE     Novel pathogenic variants in GBE1 causing fetal akinesia
            deformation sequence and severe neuromuscular form of glycogen
            storage disease type IV
  JOURNAL   Clin Dysmorphol 28 (1), 17-21 (2019)
   PUBMED   30303820
REFERENCE   2  (bases 1 to 2937)
  AUTHORS   Hong EP, Go MJ, Kim HL and Park JW.
  TITLE     Risk prediction of pulmonary tuberculosis using genetic and
            conventional risk factors in adult Korean population
  JOURNAL   PLoS One 12 (3), e0174642 (2017)
   PUBMED   28355295
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2937)
  AUTHORS   Froese DS, Michaeli A, McCorvie TJ, Krojer T, Sasi M, Melaev E,
            Goldblum A, Zatsepin M, Lossos A, Alvarez R, Escriba PV, Minassian
            BA, von Delft F, Kakhlon O and Yue WW.
  TITLE     Structural basis of glycogen branching enzyme deficiency and
            pharmacologic rescue by rational peptide design
  JOURNAL   Hum Mol Genet 24 (20), 5667-5676 (2015)
   PUBMED   26199317
REFERENCE   4  (bases 1 to 2937)
  AUTHORS   Kakhlon O, Glickstein H, Feinstein N, Liu Y, Baba O, Terashima T,
            Akman HO, Dimauro S and Lossos A.
  TITLE     Polyglucosan neurotoxicity caused by glycogen branching enzyme
            deficiency can be reversed by inhibition of glycogen synthase
  JOURNAL   J Neurochem 127 (1), 101-113 (2013)
   PUBMED   23607684
REFERENCE   5  (bases 1 to 2937)
  AUTHORS   Murphy RM, Xu H, Latchman H, Larkins NT, Gooley PR and Stapleton
            DI.
  TITLE     Single fiber analyses of glycogen-related proteins reveal their
            differential association with glycogen in rat skeletal muscle
  JOURNAL   Am J Physiol Cell Physiol 303 (11), C1146-C1155 (2012)
   PUBMED   23015546
REFERENCE   6  (bases 1 to 2937)
  AUTHORS   Gonzales PA, Pisitkun T, Hoffert JD, Tchapyjnikov D, Star RA, Kleta
            R, Wang NS and Knepper MA.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   7  (bases 1 to 2937)
  AUTHORS   Hong SJ, Li H, Becker KG, Dawson VL and Dawson TM.
  TITLE     Identification and analysis of plasticity-induced late-response
            genes
  JOURNAL   Proc Natl Acad Sci U S A 101 (7), 2145-2150 (2004)
   PUBMED   14766980
REFERENCE   8  (bases 1 to 2937)
  AUTHORS   Bao Y, Kishnani P, Wu JY and Chen YT.
  TITLE     Hepatic and neuromuscular forms of glycogen storage disease type IV
            caused by mutations in the same glycogen-branching enzyme gene
  JOURNAL   J Clin Invest 97 (4), 941-948 (1996)
   PUBMED   8613547
REFERENCE   9  (bases 1 to 2937)
  AUTHORS   Satoh,K. and Sato,K.
  TITLE     Glycogen-binding protein components of rat tissues
  JOURNAL   Biochem Biophys Res Commun 96 (1), 28-33 (1980)
   PUBMED   6449198
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CB724963.1, CB546687.1, BC090037.1 and BI284270.1.
            
            On or before Dec 18, 2009 this sequence version replaced
            XM_221747.4, XM_001064453.1.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMD00132261,
                              SAMD00132262 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-116               CB724963.1         1-116
            117-625             CB546687.1         9-517
            626-2915            BC090037.1         1-2290
            2916-2937           BI284270.1         1-22                c
FEATURES             Location/Qualifiers
     source          1..2937
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /strain="Sprague-Dawley"
                     /db_xref="taxon:10116"
                     /chromosome="11"
                     /map="11p11"
     gene            1..2937
                     /gene="Gbe1"
                     /note="1,4-alpha-glucan branching enzyme 1"
                     /db_xref="GeneID:288333"
                     /db_xref="RGD:1309968"
     exon            1..270
                     /gene="Gbe1"
                     /inference="alignment:Splign:2.1.0"
     CDS             128..2236
                     /gene="Gbe1"
                     /EC_number="2.4.1.18"
                     /note="glucan (1,4-alpha-), branching enzyme 1"
                     /codon_start=1
                     /product="1,4-alpha-glucan-branching enzyme"
                     /protein_id="NP_001093972.1"
                     /db_xref="GeneID:288333"
                     /db_xref="RGD:1309968"
                     /translation="MAAPAAPAAEEKGSEAQLKAALADVPELGRLLEIDPYLKPYAAD
                     FQRRYKKFNQVLHDIGENEGGIDKFSRGYESFGIHRCSDGGIYCKEWAPGAEGVFLTG
                     EFSGWNPFSHPYKKLEYGKWELYIPPKQNKSPPIPHGSKLKVVITSKSGEILYRISPW
                     AKYVVRENNNVNYDWIHWDPENPYKFRHSRPKKPRSLRIYESHVGISSHEGKIASYKH
                     FTSNVLPRIKDLGYNCIQLMAIMEHAYYASFGYQVTSFFAASSRYGTPEELKELVDTA
                     HLMGIVVLLDVVHSHASKNSEDGLNMFDGTDSCYFHSGPRGTHDLWDSRLFIYSSWEV
                     LRFLLSNIRWWLEEYCFDGFRFDGVTSMLYHHHGMGQGFSGDYSEYFGLQVDEDALVY
                     LMLANHLTHTMYPDSITIAEDVSGMPALCSPTSQGGGGFDYRLAMAIPDKWIQLLKEF
                     KDEDWNMGNIVYTLTNRRHLEKCVAYAESHDQALVGDKTLAFWLMDAEMYTNMSVLAP
                     FTPVIDRGIQLHKMIRLITHGLGGEGYLNFMGNEFGHPEWLDFPRKGNNESYHYARRQ
                     FNLTDDDLLRYKFLNNFDRDMNRLEETCGWLSAPQAYVSEKHEGNKTITFERAGLLFI
                     FNFHPSKSYTDYRVGTAMPGKFKIVLDSDAAEYGGHQRLDHSTDYFAEAFEHNGRPYS
                     LLVYIPSRVALILQNVDLPN"
     exon            271..440
                     /gene="Gbe1"
                     /inference="alignment:Splign:2.1.0"
     exon            441..556
                     /gene="Gbe1"
                     /inference="alignment:Splign:2.1.0"
     exon            557..682
                     /gene="Gbe1"
                     /inference="alignment:Splign:2.1.0"
     exon            683..818
                     /gene="Gbe1"
                     /inference="alignment:Splign:2.1.0"
     exon            819..909
                     /gene="Gbe1"
                     /inference="alignment:Splign:2.1.0"
     exon            910..1119
                     /gene="Gbe1"
                     /inference="alignment:Splign:2.1.0"
     exon            1120..1235
                     /gene="Gbe1"
                     /inference="alignment:Splign:2.1.0"
     exon            1236..1363
                     /gene="Gbe1"
                     /inference="alignment:Splign:2.1.0"
     exon            1364..1462
                     /gene="Gbe1"
                     /inference="alignment:Splign:2.1.0"
     exon            1463..1573
                     /gene="Gbe1"
                     /inference="alignment:Splign:2.1.0"
     exon            1574..1745
                     /gene="Gbe1"
                     /inference="alignment:Splign:2.1.0"
     exon            1746..1930
                     /gene="Gbe1"
                     /inference="alignment:Splign:2.1.0"
     exon            1931..2061
                     /gene="Gbe1"
                     /inference="alignment:Splign:2.1.0"
     exon            2062..2179
                     /gene="Gbe1"
                     /inference="alignment:Splign:2.1.0"
     exon            2180..2920
                     /gene="Gbe1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 cgctctgcgg ctataaaggg caagtcccca gcggctcgcc taggctcgcc cggctccgcc
       61 ctgccgctcg cacaccacac gggccactcg accttctcgg gcctcggcta cttgggcggc
      121 ggcgaagatg gcggcgccgg cggctcctgc ggcagaggag aagggctccg aagctcaact
      181 gaaggccgcc ttggccgatg tgccggagct gggccgactt ctggagattg acccgtacct
      241 gaagccctac gccgcagact tccagcgcag gtataagaag tttaaccagg ttttgcatga
      301 cattggagag aatgaaggtg gtattgataa gttctccaga ggctatgagt catttggcat
      361 ccacagatgt tccgatggtg gcatatactg taaagaatgg gccccaggag cagaaggagt
      421 ttttcttact ggagaattca gtggttggaa tccattttct catccatata aaaagctgga
      481 atatgggaaa tgggagctgt acatcccacc caagcagaat aaatctcccc caatacctca
      541 tgggtccaaa ctgaaggtag ttattaccag taagagtggt gagattctgt accgcatctc
      601 cccgtgggca aagtatgtgg ttcgcgagaa caacaacgtg aactacgatt ggatacactg
      661 ggatccagaa aacccctaca aattcaggca ttccagacct aagaaaccca gaagcctaag
      721 aatttatgaa tctcatgtgg gaatttcttc ccatgaagga aagatagctt cttataaaca
      781 ttttactagc aatgtactac caagaatcaa agaccttggg tacaactgca ttcagttgat
      841 ggcgatcatg gaacacgcct actatgccag ctttgggtac caagtcacca gcttttttgc
      901 agcttcaagc cgttatggaa ctcctgaaga gctgaaagaa cttgtcgaca cagcacattt
      961 gatgggcatt gtcgtcctct tggacgtggt acacagccat gcttctaaaa actcagaaga
     1021 cgggttaaac atgtttgatg ggaccgattc ctgttacttt cattctggac ccagaggaac
     1081 ccatgatctt tgggacagta gattatttat ctattccagc tgggaagtct taaggttcct
     1141 tctgtcgaac ataagatggt ggttggagga atactgcttt gacggcttcc gttttgacgg
     1201 tgtcacctcc atgctgtatc atcaccatgg catgggtcaa ggtttttcag gcgactacag
     1261 tgaatatttt ggactccaag tagatgaaga cgctctggtt tacctcatgt tggcaaatca
     1321 tttgacgcac acgatgtacc cagactcgat aactatagca gaggatgtat cagggatgcc
     1381 ggccctctgt tctccaacgt cccagggagg aggtggtttt gattacagat tagcaatggc
     1441 cattccggat aaatggatcc aattacttaa ggaattcaaa gatgaagact ggaacatggg
     1501 caatatagtg tatacgctca ccaatcgacg ccaccttgaa aaatgcgtgg cttatgcaga
     1561 gagccatgat caggcactgg ttggtgacaa gacactggca ttttggttga tggacgccga
     1621 gatgtacacg aacatgagcg ttctggcgcc tttcacccca gtaattgatc gaggaataca
     1681 gcttcacaag atgattcgac tcatcactca cgggcttggt ggagaaggct atctcaattt
     1741 tatggggaat gagtttgggc atcctgaatg gttggacttc ccaaggaagg gaaataatga
     1801 gagttaccat tatgccagaa ggcagtttaa cttaaccgat gacgaccttc ttcgttataa
     1861 gttcctgaat aactttgaca gagatatgaa cagactggaa gaaacatgtg gttggctctc
     1921 ggctccgcag gcctacgtga gtgaaaagca cgaaggcaat aagacaatca cctttgagag
     1981 agcaggactt ctttttattt tcaacttcca cccaagcaag agctatacgg actaccgagt
     2041 cgggacagcc atgccaggga agttcaaaat tgtattagat tcagatgcag cagaatatgg
     2101 aggacatcag agactggacc acagcaccga ctactttgcc gaggcttttg aacataatgg
     2161 gcgcccctat tcccttttgg tgtacattcc aagccgagtg gctctcatcc ttcagaacgt
     2221 ggatctgcca aactgaagag acctgaagtc agcccatctc tcccggacga gttgaagctg
     2281 agcctcatca cagtgttgat aatgtgcgat ctttgcaaaa cacggctgtc tagccaaaac
     2341 atcaggctgg aattcaacat tggaatatgt aaacatataa gttgcttatg aagtagaagg
     2401 ggggatgtgc tttaaatatt aacaacgtct atttcagagc catttgagaa attaggattt
     2461 gcaaatgaag tgtaacatat gataattttt aaatattact ttactggcaa agtatttgat
     2521 tctttaattt taaatttgaa ttattcatga ggcatgataa tttgggctgt agtaaaaacg
     2581 gtttttttga ggtagatatt tggtggcctt atttgttcta atatctactg gtatgaacaa
     2641 tgtggtactg agcttgtttc tctgctgtac cttttgtaat tgtgtttaga aatgctatat
     2701 taaatatgtg gctttaatat gaaaataaga atctcataaa agagaatata aatttcttat
     2761 ctgtgcctca ttttacatta agttttatct tgtaatctcc tgttcataaa cggttccagt
     2821 agacgctgat atttcaatct tctgaaggct tgaagtggtc gttgtagcat ttctgaaaat
     2881 gtctttcatt tcagtcaata aaaaaaaatg ccaaattgca aaaaaaaaaa aaaaaaa
//
