LOCUS       NM_008064               3579 bp    mRNA    linear   ROD 06-OCT-2024
DEFINITION  Mus musculus glucosidase, alpha, acid (Gaa), transcript variant 1,
            mRNA.
ACCESSION   NM_008064
VERSION     NM_008064.4
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 3579)
  AUTHORS   Rohm,M., Russo,G., Helluy,X., Froeling,M., Umathum,V., Sudkamp,N.,
            Manahan-Vaughan,D., Rehmann,R., Forsting,J., Jacobsen,F., Roos,A.,
            Shin,Y., Schanzer,A., Vorgerd,M. and Schlaffke,L.
  TITLE     Muscle diffusion MRI reveals autophagic buildup in a mouse model
            for Pompe disease
  JOURNAL   Sci Rep 13 (1), 22822 (2023)
   PUBMED   38129558
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3579)
  AUTHORS   El Haddad,L., Lai,E., Murthy,P.K.L., Biswas,D.D., Soufny,R.,
            Roger,A.L., Tata,P.R. and ElMallah,M.K.
  TITLE     GAA deficiency disrupts distal airway cells in Pompe disease
  JOURNAL   Am J Physiol Lung Cell Mol Physiol 325 (3), L288-L298 (2023)
   PUBMED   37366541
  REMARK    GeneRIF: GAA deficiency disrupts distal airway cells in Pompe
            disease.
REFERENCE   3  (bases 1 to 3579)
  AUTHORS   Rohm,M., Volke,L., Schlaffke,L., Rehmann,R., Sudkamp,N., Roos,A.,
            Schanzer,A., Hentschel,A. and Vorgerd,M.
  TITLE     Dysregulation of Metabolism and Proteostasis in Skeletal Muscle of
            a Presymptomatic Pompe Mouse Model
  JOURNAL   Cells 12 (12), 1602 (2023)
   PUBMED   37371072
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3579)
  AUTHORS   Watkins,B., Schultheiss,J., Rafuna,A., Hintze,S., Meinke,P.,
            Schoser,B. and Kroger,S.
  TITLE     Degeneration of muscle spindles in a murine model of Pompe disease
  JOURNAL   Sci Rep 13 (1), 6555 (2023)
   PUBMED   37085544
  REMARK    Erratum:[Sci Rep. 2024 Jun 11;14(1):13394. doi:
            10.1038/s41598-024-63491-0. PMID: 38862583]
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3579)
  AUTHORS   Kan,S.H., Huang,J.Y., Harb,J., Rha,A., Dalton,N.D., Christensen,C.,
            Chan,Y., Davis-Turak,J., Neumann,J. and Wang,R.Y.
  TITLE     CRISPR-mediated generation and characterization of a Gaa homozygous
            c.1935C>A (p.D645E) Pompe disease knock-in mouse model
            recapitulating human infantile onset-Pompe disease
  JOURNAL   Sci Rep 12 (1), 21576 (2022)
   PUBMED   36517654
  REMARK    GeneRIF: CRISPR-mediated generation and characterization of a Gaa
            homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model
            recapitulating human infantile onset-Pompe disease.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3579)
  AUTHORS   Morris,D.J., Adler,I.D. and Robinson,T.J.
  TITLE     Somatic cell hybrid mapping on mouse chromosome 11 (MMU11):
            assignment of markers relative to two breakpoints in band D
  JOURNAL   Genomics 15 (2), 323-331 (1993)
   PUBMED   8449498
REFERENCE   7  (bases 1 to 3579)
  AUTHORS   Martiniuk,F., Hirschhorn,R. and D'Eustachio,P.
  TITLE     Linkage of acid alpha-glucosidase (Gaa) and thymidine kinase (Tk-1)
            to esterase-3 (Es-3) on mouse chromosome 11
  JOURNAL   Mamm Genome 1 (4), 267-269 (1991)
   PUBMED   1794057
REFERENCE   8  (bases 1 to 3579)
  AUTHORS   Martiniuk,F., Mehler,M., Pellicer,A., Tzall,S., La Badie,G.,
            Hobart,C., Ellenbogen,A. and Hirschhorn,R.
  TITLE     Isolation of a cDNA for human acid alpha-glucosidase and detection
            of genetic heterogeneity for mRNA in three
            alpha-glucosidase-deficient patients
  JOURNAL   Proc Natl Acad Sci U S A 83 (24), 9641-9644 (1986)
   PUBMED   3540946
REFERENCE   9  (bases 1 to 3579)
  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 3579)
  AUTHORS   Murray,A.K., Brown,B.I. and Brown,D.H.
  TITLE     The molecular heterogeneity of purified human liver lysosomal
            alpha-glucosidase (acid alpha-glucosidase)
  JOURNAL   Arch Biochem Biophys 185 (2), 511-524 (1978)
   PUBMED   24417
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BB839328.1, AL672140.7,
            AK146538.1, AK052211.1 and BP767732.1.
            
            On Dec 1, 2015 this sequence version replaced NM_008064.3.
            
            Summary: This gene encodes a lysosomal acid glucosidase that is
            involved in the degradation of glycogen. The encoded preproprotein
            undergoes proteolytic processing to generate a mature enzyme that
            cleaves alpha-1-4 and alpha-1-6 glycosidic bonds of glycogen,
            maltose and intermediate oligosaccharides within the lysosome. Mice
            lacking the encoded protein exhibit symptoms similar to human Pompe
            syndrome such as accumulation of glycogen in cardiac and skeletal
            muscle lysosomes resulting in reduced mobility and strength.
            Alternative splicing of this gene results in multiple transcript
            variants. [provided by RefSeq, Nov 2015].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 encode the same protein.
            
            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 :: AK052211.1, AK088481.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [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
            1-7                 BB839328.1         3-9
            8-8                 AL672140.7         108299-108299
            9-11                BB839328.1         11-13
            12-65               AK146538.1         2-55
            66-3557             AK052211.1         2-3493
            3558-3579           BP767732.1         30-51               c
FEATURES             Location/Qualifiers
     source          1..3579
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="11"
                     /map="11 83.35 cM"
     gene            1..3579
                     /gene="Gaa"
                     /gene_synonym="E430018M07Rik"
                     /note="glucosidase, alpha, acid"
                     /db_xref="GeneID:14387"
                     /db_xref="MGI:MGI:95609"
     exon            1..260
                     /gene="Gaa"
                     /gene_synonym="E430018M07Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            261..851
                     /gene="Gaa"
                     /gene_synonym="E430018M07Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            852..997
                     /gene="Gaa"
                     /gene_synonym="E430018M07Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            998..1163
                     /gene="Gaa"
                     /gene_synonym="E430018M07Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1164..1260
                     /gene="Gaa"
                     /gene_synonym="E430018M07Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1261..1380
                     /gene="Gaa"
                     /gene_synonym="E430018M07Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1381..1499
                     /gene="Gaa"
                     /gene_synonym="E430018M07Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1500..1631
                     /gene="Gaa"
                     /gene_synonym="E430018M07Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1632..1742
                     /gene="Gaa"
                     /gene_synonym="E430018M07Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1743..1856
                     /gene="Gaa"
                     /gene_synonym="E430018M07Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1857..1941
                     /gene="Gaa"
                     /gene_synonym="E430018M07Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1942..2059
                     /gene="Gaa"
                     /gene_synonym="E430018M07Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            2060..2193
                     /gene="Gaa"
                     /gene_synonym="E430018M07Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            2194..2345
                     /gene="Gaa"
                     /gene_synonym="E430018M07Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            2346..2494
                     /gene="Gaa"
                     /gene_synonym="E430018M07Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            2495..2636
                     /gene="Gaa"
                     /gene_synonym="E430018M07Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            2637..2789
                     /gene="Gaa"
                     /gene_synonym="E430018M07Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            2790..2954
                     /gene="Gaa"
                     /gene_synonym="E430018M07Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            2955..3107
                     /gene="Gaa"
                     /gene_synonym="E430018M07Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            3108..3561
                     /gene="Gaa"
                     /gene_synonym="E430018M07Rik"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3533..3538
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Gaa"
                     /gene_synonym="E430018M07Rik"
                     /note="hexamer: AATAAA"
     polyA_site      3558
                     /gene="Gaa"
                     /gene_synonym="E430018M07Rik"
                     /note="major polyA site"
ORIGIN      
        1 acacggactc cgccgcctac gcaggaggtc gtgtgacgag gtccgcgcgg acgagccccg
       61 cccacagacc acgtgaccca cgctgcccgc tgagcctggg ggtcttcggc ctggagggtg
      121 attgcgcagg tgagctgggc gagctggtga aggctgtctc cggccccaga gcctccggag
      181 gagcggcctc ctccaggcag gcagggccga ctgtcagcga gttcctgctt tggagaatcg
      241 agcagagaca cgcggcatag gccttcagaa gtattcatgc tgccccgaac caacaggctt
      301 tcaccatgaa tatacggaag cccctctgtt cgaactccgt ggttggggcc tgcaccctta
      361 tctctctgac tacagcggtc atcctgggtc atctcatgct tcgggagtta atgctgcttc
      421 cccaagacct tcatgagtcc tcttcaggac tgtggaagac gtaccgacct caccaccagg
      481 aaggttacaa gccagggcct ctgcacatcc aggagcagac tgaacagccc aaagaagcac
      541 ccacacagtg tgatgtgccc cccagcagcc gctttgactg tgcccccgac aaaggcatct
      601 cacaggagca atgcgaggcc cgcggctgct gctatgtccc agcagggcag gtgctgaagg
      661 agccgcagat agggcagccc tggtgtttct tccctcccag ctacccaagc taccgtctag
      721 agaacctgag ctctacagag tcggggtaca cagccaccct gacccgtacc agcccgacct
      781 tcttcccaaa ggatgtgctg accttacagc tggaggtgct gatggagaca gacagccgcc
      841 tccacttcaa gatcaaagat cctgctagta agcgctacga agtgcccctg gagaccccac
      901 gtgtgctgag ccaggcacca tccccacttt acagcgtgga attctcagag gaaccctttg
      961 gagtgatcgt tcgtaggaag cttggtggcc gagtgttgct gaacacaacc gtggcccccc
     1021 tgttcttcgc tgaccagttc ctgcagctgt ccacttccct gccctcccag cacatcacag
     1081 gcctggggga acacctcagc ccactcatgc tcagcaccga ctgggctcgt atcaccctct
     1141 ggaaccggga cacaccaccc tcgcaaggta ccaacctcta cgggtcacat cctttctacc
     1201 tggcactgga ggacggtggc ttggctcacg gtgtcttctt gctaaacagc aatgccatgg
     1261 atgtcatcct gcaacccagc ccagccctaa cctggaggtc aacgggcggg atcctggatg
     1321 tgtatgtgtt cctaggccca gagcccaaga gcgttgtgca acaatacctg gatgttgtgg
     1381 gatacccctt catgcctcca tactggggcc tcggcttcca cctctgccgc tggggctact
     1441 cctcgaccgc cattgtccgc caggtagtgg agaacatgac caggacacac ttcccgctgg
     1501 acgtgcaatg gaatgacctg gactacatgg acgcccgaag agacttcacc ttcaaccagg
     1561 acagctttgc cgacttccca gacatggtgc gggagctgca ccaggatggc cggcgctaca
     1621 tgatgatcgt ggaccctgcc atcagcagcg caggccctgc tgggagttac aggccctacg
     1681 acgagggtct gcggaggggc gtgttcatca ccaacgagac tgggcagccg ctgattggga
     1741 aggtttggcc tggaaccacc gccttccctg atttcaccaa ccctgagacc cttgactggt
     1801 ggcaggacat ggtgtctgag ttccacgccc aggtgccctt cgatggcatg tggctcgaca
     1861 tgaacgaacc gtccaacttc gttagaggct ctcagcaggg ctgccccaac aatgaactgg
     1921 agaacccccc ctatgtgccc ggggtggttg gcgggatctt gcaggcagcc accatctgtg
     1981 cctccagcca ccaattcctc tccacacact acaacctcca caacctgtac ggcctcactg
     2041 aagctatcgc ctccagcagg gccctggtca agactcgggg aacacgaccc tttgtgatct
     2101 cccgctcaac cttctcgggc cacggccggt acgctggtca ctggacaggg gatgtgcgga
     2161 gctcttggga gcatcttgca tactctgtgc cagacatcct gcagttcaac ctgctgggcg
     2221 tgcccctggt cggggcggac atctgcggct tcataggaga cacgtcagaa gagctgtgtg
     2281 tgcgctggac ccagttgggg gccttctacc ccttcatgcg gaaccacaat gacctgaata
     2341 gcgtgcctca ggagccgtac aggttcagcg agacggcgca gcaggccatg aggaaggcct
     2401 tcgccttacg ctatgccctt ctgccctacc tgtacactct cttccaccgc gcccacgtca
     2461 gaggagacac ggtggcccgg cccctcttcc tggagttccc tgaggatccc agcacctggt
     2521 ctgtggaccg ccagctcttg tgggggccgg ccctgctcat cacacctgtg cttgagcctg
     2581 ggaaaactga agtgacgggc tacttcccca agggcacgtg gtacaacatg cagatggtgt
     2641 cagtggattc cctcggtact ctcccttctc catcatcggc ttcatccttc agatctgctg
     2701 tccagagcaa ggggcagtgg ctgacactgg aagccccact ggataccatc aacgtgcacc
     2761 tgagggaggg gtacatcata ccgctgcagg gtcccagcct cacaaccacg gagtcccgaa
     2821 agcagcccat ggctctggct gtggcattaa cagcaagcgg cgaggccgat ggggagctgt
     2881 tctgggacga cggggagagc ctcgcggttc tggagcgtgg ggcctacaca ctggtcacct
     2941 tctcagccaa gaacaatacc attgtgaaca agttagtgcg tgtgaccaag gagggagctg
     3001 agctacaact gagggaggtg accgtcttgg gagtggccac agctcctacc caggtccttt
     3061 ccaacggcat ccctgtctcc aatttcacct acagccctga caacaagagc ctggccatcc
     3121 ctgtctcact gctgatggga gagctgtttc aaatcagctg gtcctaggag agtccgtcgt
     3181 ttacagaggc ctccagggag gcagagggag cttgagctgg ctctggctgg tggctcctgt
     3241 aaggacctgc gtcctgctct cctgacacat ctttgagctt ttcccaccgt gttactgcat
     3301 gcgcccctga agctctgtgt tcttaggaga gtgaggctcg cctcacctgc cccaccccag
     3361 ctgtctgtcc ctcacctggc actagagaat gtggagctcg gcgtggggac atcgtgtctg
     3421 caccaacatc aggctgtgca gccactgcag ccgcaaccct gcagagacag agctggtgcc
     3481 ttcaccaggt tcccaagact cgagaaactt actgtgaagt gtacttactt ttaataaaaa
     3541 ggatattgtt tggaagcagt taaaaaaaaa aaaaaaaaa
//
