LOCUS       NM_199118               3408 bp    mRNA    linear   ROD 06-DEC-2024
DEFINITION  Rattus norvegicus alpha glucosidase (Gaa), mRNA.
ACCESSION   NM_199118 XM_346213
VERSION     NM_199118.1
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 3408)
  AUTHORS   Roig-Zamboni,V., Cobucci-Ponzano,B., Iacono,R., Ferrara,M.C.,
            Germany,S., Bourne,Y., Parenti,G., Moracci,M. and Sulzenbacher,G.
  TITLE     Structure of human lysosomal acid alpha-glucosidase-a guide for the
            treatment of Pompe disease
  JOURNAL   Nat Commun 8 (1), 1111 (2017)
   PUBMED   29061980
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3408)
  AUTHORS   Yi,H., Gao,F., Austin,S., Kishnani,P.S. and Sun,B.
  TITLE     Alglucosidase alfa treatment alleviates liver disease in a mouse
            model of glycogen storage disease type IV
  JOURNAL   Mol Genet Metab Rep 9, 31-33 (2016)
   PUBMED   27747161
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3408)
  AUTHORS   Mortensen,M., Ferguson,D.J., Edelmann,M., Kessler,B., Morten,K.J.,
            Komatsu,M. and Simon,A.K.
  TITLE     Loss of autophagy in erythroid cells leads to defective removal of
            mitochondria and severe anemia in vivo
  JOURNAL   Proc Natl Acad Sci U S A 107 (2), 832-837 (2010)
   PUBMED   20080761
REFERENCE   4  (bases 1 to 3408)
  AUTHORS   Ghosh,D., Lippert,D., Krokhin,O., Cortens,J.P. and Wilkins,J.A.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   5  (bases 1 to 3408)
  AUTHORS   Gonzales,P.A., Pisitkun,T., Hoffert,J.D., Tchapyjnikov,D.,
            Star,R.A., Kleta,R., Wang,N.S. and Knepper,M.A.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   6  (bases 1 to 3408)
  AUTHORS   Sleat,D.E., Sohar,I., Lackland,H., Majercak,J. and Lobel,P.
  TITLE     Rat brain contains high levels of mannose-6-phosphorylated
            glycoproteins including lysosomal enzymes and palmitoyl-protein
            thioesterase, an enzyme implicated in infantile neuronal
            lipofuscinosis
  JOURNAL   J Biol Chem 271 (32), 19191-19198 (1996)
   PUBMED   8702598
REFERENCE   7  (bases 1 to 3408)
  AUTHORS   Boerkoel,C.F., Exelbert,R., Nicastri,C., Nichols,R.C., Miller,F.W.,
            Plotz,P.H. and Raben,N.
  TITLE     Leaky splicing mutation in the acid maltase gene is associated with
            delayed onset of glycogenosis type II
  JOURNAL   Am J Hum Genet 56 (4), 887-897 (1995)
   PUBMED   7717400
REFERENCE   8  (bases 1 to 3408)
  AUTHORS   Konishi,Y., Okawa,Y., Hosokawa,S., Fujimori,K. and Fuwa,H.
  TITLE     Lysosomal glycogen accumulation in rat liver and its in vivo
            kinetics after a single intraperitoneal injection of acarbose, an
            alpha-glucosidase inhibitor
  JOURNAL   J Biochem 107 (2), 197-201 (1990)
   PUBMED   2193931
REFERENCE   9  (bases 1 to 3408)
  AUTHORS   Stallings,R.L. and Siciliano,M.J.
  TITLE     Confirmational, provisional, and/or regional assignment of 15
            enzyme loci onto Chinese hamster autosomes 1, 2, and 7
  JOURNAL   Somatic Cell Genet 7 (6), 683-698 (1981)
   PUBMED   7323947
REFERENCE   10 (bases 1 to 3408)
  AUTHORS   Brown,B.I., Brown,D.H. and Jeffrey,P.L.
  TITLE     Simultaneous absence of alpha-1,4-glucosidase and
            alpha-1,6-glucosidase activities (pH 4) in tissues of children with
            type II glycogen storage disease
  JOURNAL   Biochemistry 9 (6), 1423-1428 (1970)
   PUBMED   5264799
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC061753.1.
            
            On Jan 1, 2004 this sequence version replaced XM_346213.1.
            
            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 :: BC061753.1, SRR8487230.87675.1
                                           [ECO:0000332]
            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##
FEATURES             Location/Qualifiers
     source          1..3408
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10116"
                     /chromosome="10"
                     /map="10q32.3"
     gene            1..3408
                     /gene="Gaa"
                     /note="alpha glucosidase"
                     /db_xref="GeneID:367562"
                     /db_xref="RGD:735227"
     exon            1..128
                     /gene="Gaa"
                     /inference="alignment:Splign:2.1.0"
     exon            129..716
                     /gene="Gaa"
                     /inference="alignment:Splign:2.1.0"
     CDS             171..3032
                     /gene="Gaa"
                     /EC_number="3.2.1.20"
                     /note="lysosomal alpha-glucosidase; glucosidase, alpha,
                     acid; acid maltase; acid alpha-glucosidase; acid (Pompe
                     disease, glycogen storage disease type II); glucosidase,
                     alpha; acid (Pompe disease, glycogen storage disease type
                     II)"
                     /codon_start=1
                     /product="lysosomal alpha-glucosidase precursor"
                     /protein_id="NP_954549.1"
                     /db_xref="GeneID:367562"
                     /db_xref="RGD:735227"
                     /translation="MNIRKPLCSNSVVGACTLVSLTTAVILGHLMLRELMLLPQDLHE
                     SSSGLWKTYRPHHQESYEPAPLHIQEHAEQLRAVPTQCDVTPNSRFDCAPDKGITQEQ
                     CEARGCCWVPAGQVLNGPVMGQPWCFFPPSYPSYRLENLSSTESGYTATLTRTSPTFF
                     PKDVLTLQLEVLMETDSRLHFMIKDPTSKRYEVPLETPRVLSQAPSPLYSVEFSEEPF
                     GVIVRRKLGGRVLLNTTVAPLFFADQFLQLSTSLPSQHIAGLGEHLSPLMLSTEWTRI
                     TLWNRDVAPSQGVNLYGSHPFYLALEDGGLAHGVFLLNSNAMDVVLQPSPALTWRSTG
                     GILDVYVFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAIVRQVVENMT
                     RTHFPLDVQWNDLDYMDARRDFTFNQDGFADFPDMVHELHQGGRRYMMIVDPAISSSG
                     PAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPETLDWWQDMVSEFHA
                     QVPFDGMWIDMNEPSNFIRGSQQGCPDNELENPPYVPGVVGGALQAATICASSHQFLS
                     THYNLHNLYGLTEAIASSRALVKTRGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEHL
                     AYSVPEILQFNLLGVPLVGADICGFQGNTTEELCVRWTQLGAFYPFMRNHNDLNSLPQ
                     EPYRFSETAQQAMRKAFTLRYALLPYLYTLFHGAHVKGDTVARPLFLEFPEDPSTWSV
                     DRQLLWGPALLITPVLEPGKTDVTGYFPKGMWYNLQMVPVETLGSLPSSSPASSFRSI
                     VHSKGQWLTLEAPLDTINVHLRAGYIIPLQGPSLTTTESRKQPMALAVALTESGEASG
                     ELFWDDGESLGVLERGAYTLVTFSAKNNTIVNKLVHVTKEGGELQLREVTILGVTTAP
                     TQVLSNGISVSNFTYSPDDKSLSIPVSLLMGERFQIDWS"
     exon            717..862
                     /gene="Gaa"
                     /inference="alignment:Splign:2.1.0"
     exon            863..1028
                     /gene="Gaa"
                     /inference="alignment:Splign:2.1.0"
     exon            1029..1125
                     /gene="Gaa"
                     /inference="alignment:Splign:2.1.0"
     exon            1126..1245
                     /gene="Gaa"
                     /inference="alignment:Splign:2.1.0"
     exon            1246..1364
                     /gene="Gaa"
                     /inference="alignment:Splign:2.1.0"
     exon            1365..1496
                     /gene="Gaa"
                     /inference="alignment:Splign:2.1.0"
     exon            1497..1607
                     /gene="Gaa"
                     /inference="alignment:Splign:2.1.0"
     exon            1608..1721
                     /gene="Gaa"
                     /inference="alignment:Splign:2.1.0"
     exon            1722..1806
                     /gene="Gaa"
                     /inference="alignment:Splign:2.1.0"
     exon            1807..1924
                     /gene="Gaa"
                     /inference="alignment:Splign:2.1.0"
     exon            1925..2058
                     /gene="Gaa"
                     /inference="alignment:Splign:2.1.0"
     exon            2059..2210
                     /gene="Gaa"
                     /inference="alignment:Splign:2.1.0"
     exon            2211..2359
                     /gene="Gaa"
                     /inference="alignment:Splign:2.1.0"
     exon            2360..2501
                     /gene="Gaa"
                     /inference="alignment:Splign:2.1.0"
     exon            2502..2654
                     /gene="Gaa"
                     /inference="alignment:Splign:2.1.0"
     exon            2655..2819
                     /gene="Gaa"
                     /inference="alignment:Splign:2.1.0"
     exon            2820..2972
                     /gene="Gaa"
                     /inference="alignment:Splign:2.1.0"
     exon            2973..3366
                     /gene="Gaa"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gagcgagctg ttgaaggctg tttcaggccc cagagcctcc ggaggaacgg cctcctcccg
       61 gcaggcgggg ccggccgact atcggcgagt tcctgctggg gagaatcgag cagagacacc
      121 cggcataggc cttcagaact attcatgctg ccctgggctt ggctttcatc atgaatatac
      181 ggaagcccct ctgttccaac tccgtggttg gggcctgcac cctcgtctcc ttgactacgg
      241 ctgtcatcct gggtcacctc atgctccggg agctaatgct actcccccag gatcttcatg
      301 agtcctcctc gggactgtgg aagacttacc gacctcacca tcaggaaagt tacgagccag
      361 cgcccctgca catccaggag cacgccgaac agctaagagc agtacccaca cagtgtgatg
      421 taacccccaa cagccgcttt gactgtgccc ccgacaaagg catcacccag gagcagtgcg
      481 aggcccgagg ctgctgctgg gtcccagcag ggcaggtgct gaatgggcca gtgatggggc
      541 agccctggtg tttcttccct cccagctacc caagctaccg gctagagaac ctgagctcta
      601 cagagtcagg gtacacagcc accctgaccc ggaccagtcc gaccttcttt ccaaaggatg
      661 tgctgacctt acagctggag gtgctgatgg agactgacag ccgcctccac tttatgatca
      721 aagatcccac tagtaagcgc tacgaagtgc ccctggagac cccgcgtgtc ctgagccagg
      781 cgccatcccc actttacagt gtggagttct cagaggagcc cttcggcgtg atcgttcgca
      841 ggaagcttgg tggccgagtg ctgctgaaca caaccgtggc ccccctgttc ttcgctgacc
      901 agttcctgca gctgtccacc tcactgccct cccagcacat cgcaggcctg ggtgagcacc
      961 tcagtccact catgctcagc accgaatgga ctcgcatcac cctctggaac cgggatgtgg
     1021 caccctcgca aggtgtcaac ctctatgggt cacacccttt ctacctggca ctggaggacg
     1081 gtggcttggc tcacggtgtc ttcttgctaa atagcaatgc catggatgtg gtcctgcagc
     1141 ccagcccggc cctaacttgg aggtcaacag gcggaatcct ggatgtttat gtgttcctag
     1201 gcccagagcc caagagtgtt gtccaacaat acctggatgt cgtgggatac cccttcatgc
     1261 ctccgtactg gggcctgggc ttccacctct gccgctgggg ctactcctcc accgccatcg
     1321 tccgacaggt ggtggagaac atgaccagga cgcacttccc cctggacgtg cagtggaatg
     1381 acctggacta catggacgcc cggagagact tcactttcaa ccaggacggc tttgcagact
     1441 tcccagacat ggtgcacgag ctccaccagg gtggccggcg gtacatgatg attgtggacc
     1501 ctgccatcag cagttcaggc cctgctggga gttacaggcc ctatgatgag ggtcttcgga
     1561 ggggcgtgtt catcaccaat gagactgggc agccattgat tgggaaggtt tggcctggat
     1621 ccaccgcctt ccctgatttc accaaccctg agaccctcga ctggtggcag gacatggtgt
     1681 ctgagttcca tgcccaggtg cccttcgatg gcatgtggat cgacatgaac gaaccgtcca
     1741 acttcatcag aggctctcag cagggctgcc ctgacaatga actagagaac cccccctatg
     1801 tgcccggggt ggttggcggg gccttgcagg ccgccaccat ctgtgcctcc agccaccagt
     1861 tcctctctac acactacaac ctccacaacc tatacggcct cactgaagca attgcctcca
     1921 gcagggccct agtcaagact cggggaacac gaccctttgt gatctcccgc tcaacctttg
     1981 cgggccacgg ccggtatgcc ggtcactgga caggggacgt gtggagctct tgggagcatc
     2041 ttgcgtactc tgtgccagaa atcctgcagt ttaacctgct gggcgtgccc ctggtcgggg
     2101 cagacatctg cggcttccag ggaaacacga cagaagagct gtgtgtgcgc tggacccagt
     2161 tgggggcctt ctaccccttc atgcggaacc acaatgacct gaatagcttg cctcaggagc
     2221 cgtacaggtt cagcgagacg gcacagcagg ccatgaggaa ggccttcacc ttgcgctatg
     2281 cccttctacc ctacctgtat acactcttcc acggcgccca cgtcaaaggg gacacggtgg
     2341 cccggcccct cttcctggag ttccctgagg atcccagcac ctggtctgtg gaccgccagc
     2401 tcttgtgggg gccggccctg cttatcacac ctgtgcttga acctgggaaa actgacgtga
     2461 caggctactt ccccaagggc atgtggtaca acctgcagat ggtacctgtg gagacccttg
     2521 gtagcctccc ttcttcgtca ccagcctcgt ctttcagatc tattgtccac agcaagggtc
     2581 agtggctgac actggaagcc cccctggata ccatcaacgt gcacctcagg gcggggtaca
     2641 tcataccact gcagggtccc agcctcacaa ccacagagtc ccgaaagcag cccatggccc
     2701 tggctgtggc gttaactgaa agcggcgagg cctctgggga gctgttttgg gacgacgggg
     2761 agagcctcgg ggttctggag cgtggggcct acacactggt caccttctca gccaagaata
     2821 ataccattgt aaacaagtta gtgcacgtga ccaaggaggg aggtgaactg caactgaggg
     2881 aggtgaccat cttgggagtg accacagctc ccacccaggt cctttccaat ggcatctctg
     2941 tctccaattt cacctacagc ccggacgaca agagcctgtc catccctgtc tcactgctga
     3001 tgggagagcg gtttcaaatc gattggtcct aggagacttt acagaggccc ccctagaggc
     3061 catgcgagtt tgagctcgct ctggctggtg gctcctgtga ggacctgcgt cctgctctcc
     3121 tgacacacct ttgagctttc ccattgtgtt gctgcatgcg cccctgaagc tctgtgtggt
     3181 taggaggaga gtgaggcttg cctcgcctgc cctaccccag ctgtctgtcc ctcgcctccc
     3241 actagagaat gtggagctcg gcgtggggac gtcgtgtctg caccaacatc aggctgcaca
     3301 gccactgaga cttgagaaac ttactgtgaa gtgtacttaa ttttaataaa aaattgtttg
     3361 gaagcaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaa
//
