LOCUS       NM_001079804            3486 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens alpha glucosidase (GAA), transcript variant 3, mRNA.
ACCESSION   NM_001079804
VERSION     NM_001079804.3
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3486)
  AUTHORS   Ruiz-Saavedra,S., Salazar,N., Suarez,A., Diaz,Y., Gonzalez Del
            Rey,C., Gonzalez,S. and de Los Reyes-Gavilan,C.G.
  TITLE     Human fecal alpha-glucosidase activity and its relationship with
            gut microbiota profiles and early stages of intestinal mucosa
            damage
  JOURNAL   Anaerobe 87, 102853 (2024)
   PUBMED   38614290
  REMARK    GeneRIF: Human fecal alpha-glucosidase activity and its
            relationship with gut microbiota profiles and early stages of
            intestinal mucosa damage.
REFERENCE   2  (bases 1 to 3486)
  AUTHORS   Wirth,T., Clement,G., Delvallee,C., Bonnet,C., Bogdan,T., Iosif,A.,
            Schalk,A., Chanson,J.B., Pellerin,D., Brais,B., Roth,V.,
            Wandzel,M., Fleury,M.C., Piton,A., Calmels,N., Namer,I.J.,
            Kremer,S., Tranchant,C., Renaud,M. and Anheim,M.
  TITLE     Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic
            Late-Onset Cerebellar Ataxia (SCA27B)
  JOURNAL   Mov Disord 38 (10), 1950-1956 (2023)
   PUBMED   37470282
  REMARK    GeneRIF: Natural History and Phenotypic Spectrum of GAA-FGF14
            Sporadic Late-Onset Cerebellar Ataxia (SCA27B).
REFERENCE   3  (bases 1 to 3486)
  AUTHORS   Chan,M.Y., Jalil,J.A., Yakob,Y., Wahab,S.A.A., Ali,E.Z.,
            Khalid,M.K.N.M., Leong,H.Y., Chew,H.B., Sivabalakrishnan,J.B. and
            Ngu,L.H.
  TITLE     Genotype, phenotype and treatment outcomes of 17 Malaysian patients
            with infantile-onset Pompe disease and the identification of 3
            novel GAA variants
  JOURNAL   Orphanet J Rare Dis 18 (1), 231 (2023)
   PUBMED   37542277
  REMARK    GeneRIF: Genotype, phenotype and treatment outcomes of 17 Malaysian
            patients with infantile-onset Pompe disease and the identification
            of 3 novel GAA variants.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3486)
  AUTHORS   Lim,J.A., Li,L. and Raben,N.
  TITLE     Pompe disease: from pathophysiology to therapy and back again
  JOURNAL   Front Aging Neurosci 6, 177 (2014)
   PUBMED   25183957
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3486)
  AUTHORS   Moreland,R.J., Jin,X., Zhang,X.K., Decker,R.W., Albee,K.L.,
            Lee,K.L., Cauthron,R.D., Brewer,K., Edmunds,T. and Canfield,W.M.
  TITLE     Lysosomal acid alpha-glucosidase consists of four different
            peptides processed from a single chain precursor
  JOURNAL   J Biol Chem 280 (8), 6780-6791 (2005)
   PUBMED   15520017
  REMARK    GeneRIF: data show that the mature forms of GAA characterized by
            polypeptides of 76 or 70 kDa are in fact larger molecular mass
            multicomponent enzyme complexes; peptides released during
            proteolytic processing remained tightly associated with the major
            species
REFERENCE   6  (bases 1 to 3486)
  AUTHORS   Leslie,N. and Bailey,L.
  TITLE     Pompe Disease
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301438
REFERENCE   7  (bases 1 to 3486)
  AUTHORS   Martiniuk,F., Mehler,M., Bodkin,M., Tzall,S., Hirschhorn,K.,
            Zhong,N. and Hirschhorn,R.
  TITLE     Identification of a missense mutation in an adult-onset patient
            with glycogenosis type II expressing only one allele
  JOURNAL   DNA Cell Biol 10 (9), 681-687 (1991)
   PUBMED   1684505
REFERENCE   8  (bases 1 to 3486)
  AUTHORS   Zhong,N., Martiniuk,F., Tzall,S. and Hirschhorn,R.
  TITLE     Identification of a missense mutation in one allele of a patient
            with Pompe disease, and use of endonuclease digestion of
            PCR-amplified RNA to demonstrate lack of mRNA expression from the
            second allele
  JOURNAL   Am J Hum Genet 49 (3), 635-645 (1991)
   PUBMED   1652892
REFERENCE   9  (bases 1 to 3486)
  AUTHORS   Hermans,M.M., Kroos,M.A., van Beeumen,J., Oostra,B.A. and
            Reuser,A.J.
  TITLE     Human lysosomal alpha-glucosidase. Characterization of the
            catalytic site
  JOURNAL   J Biol Chem 266 (21), 13507-13512 (1991)
   PUBMED   1856189
REFERENCE   10 (bases 1 to 3486)
  AUTHORS   Hoefsloot,L.H., Hoogeveen-Westerveld,M., Kroos,M.A., van
            Beeumen,J., Reuser,A.J. and Oostra,B.A.
  TITLE     Primary structure and processing of lysosomal alpha-glucosidase;
            homology with the intestinal sucrase-isomaltase complex
  JOURNAL   EMBO J 7 (6), 1697-1704 (1988)
   PUBMED   3049072
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC392486.1, BF206270.1,
            M34424.1, BQ711289.1, BC040431.1 and BF344248.1.
            
            On May 31, 2019 this sequence version replaced NM_001079804.2.
            
            Summary: This gene encodes lysosomal alpha-glucosidase, which is
            essential for the degradation of glycogen to glucose in lysosomes.
            The encoded preproprotein is proteolytically processed to generate
            multiple intermediate forms and the mature form of the enzyme.
            Defects in this gene are the cause of glycogen storage disease II,
            also known as Pompe's disease, which is an autosomal recessive
            disorder with a broad clinical spectrum. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Jan
            2016].
            
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 1. Variants 1, 2, and 3 all 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 :: SRR7346977.1771713.1,
                                           SRR1803613.175893.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-400               DC392486.1         31-430
            401-788             BF206270.1         243-630
            789-2414            M34424.1           744-2369
            2415-3029           BQ711289.1         76-690
            3030-3482           BC040431.1         3097-3549
            3483-3486           BF344248.1         383-386
FEATURES             Location/Qualifiers
     source          1..3486
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..3486
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /note="alpha glucosidase"
                     /db_xref="GeneID:2548"
                     /db_xref="HGNC:HGNC:4065"
                     /db_xref="MIM:606800"
     exon            1..45
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            46..623
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     CDS             78..2936
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /EC_number="3.2.1.20"
                     /note="lysosomal alpha-glucosidase; acid maltase;
                     aglucosidase alfa; glucosidase alpha, acid"
                     /codon_start=1
                     /product="lysosomal alpha-glucosidase preproprotein"
                     /protein_id="NP_001073272.1"
                     /db_xref="CCDS:CCDS32760.1"
                     /db_xref="GeneID:2548"
                     /db_xref="HGNC:HGNC:4065"
                     /db_xref="MIM:606800"
                     /translation="MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSG
                     SSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQ
                     CEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFF
                     PKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPF
                     GVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRI
                     TLWNRDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTG
                     GILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMT
                     RAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSG
                     PAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHD
                     QVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLS
                     THYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQL
                     ASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQ
                     EPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTV
                     DHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPVEALGSLPPPPAAPREPAI
                     HSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQPMALAVALTKGGEARGE
                     LFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVTVLGVATAPQ
                     QVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC"
     exon            624..769
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            770..935
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            936..1032
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            1033..1152
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            1153..1271
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            1272..1403
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            1404..1514
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            1515..1628
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            1629..1713
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            1714..1831
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            1832..1965
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            1966..2117
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            2118..2266
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            2267..2408
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            2409..2558
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            2559..2723
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            2724..2876
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            2877..3486
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3463..3468
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /note="hexamer: AATAAA"
     polyA_site      3486
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /note="major polyA site"
ORIGIN      
        1 cgaccccgga gtctccgcgg gcggccaggg cgcgcgtgcg cggaggcctg taggagctgt
       61 ccaggccatc tccaaccatg ggagtgaggc acccgccctg ctcccaccgg ctcctggccg
      121 tctgcgccct cgtgtccttg gcaaccgctg cactcctggg gcacatccta ctccatgatt
      181 tcctgctggt tccccgagag ctgagtggct cctccccagt cctggaggag actcacccag
      241 ctcaccagca gggagccagc agaccagggc cccgggatgc ccaggcacac cccggccgtc
      301 ccagagcagt gcccacacag tgcgacgtcc cccccaacag ccgcttcgat tgcgcccctg
      361 acaaggccat cacccaggaa cagtgcgagg cccgcggctg ttgctacatc cctgcaaagc
      421 aggggctgca gggagcccag atggggcagc cctggtgctt cttcccaccc agctacccca
      481 gctacaagct ggagaacctg agctcctctg aaatgggcta cacggccacc ctgacccgta
      541 ccacccccac cttcttcccc aaggacatcc tgaccctgcg gctggacgtg atgatggaga
      601 ctgagaaccg cctccacttc acgatcaaag atccagctaa caggcgctac gaggtgccct
      661 tggagacccc gcatgtccac agccgggcac cgtccccact ctacagcgtg gagttctccg
      721 aggagccctt cggggtgatc gtgcgccggc agctggacgg ccgcgtgctg ctgaacacga
      781 cggtggcgcc cctgttcttt gcggaccagt tccttcagct gtccacctcg ctgccctcgc
      841 agtatatcac aggcctcgcc gagcacctca gtcccctgat gctcagcacc agctggacca
      901 ggatcaccct gtggaaccgg gaccttgcgc ccacgcccgg tgcgaacctc tacgggtctc
      961 accctttcta cctggcgctg gaggacggcg ggtcggcaca cggggtgttc ctgctaaaca
     1021 gcaatgccat ggatgtggtc ctgcagccga gccctgccct tagctggagg tcgacaggtg
     1081 ggatcctgga tgtctacatc ttcctgggcc cagagcccaa gagcgtggtg cagcagtacc
     1141 tggacgttgt gggatacccg ttcatgccgc catactgggg cctgggcttc cacctgtgcc
     1201 gctggggcta ctcctccacc gctatcaccc gccaggtggt ggagaacatg accagggccc
     1261 acttccccct ggacgtccag tggaacgacc tggactacat ggactcccgg agggacttca
     1321 cgttcaacaa ggatggcttc cgggacttcc cggccatggt gcaggagctg caccagggcg
     1381 gccggcgcta catgatgatc gtggatcctg ccatcagcag ctcgggccct gccgggagct
     1441 acaggcccta cgacgagggt ctgcggaggg gggttttcat caccaacgag accggccagc
     1501 cgctgattgg gaaggtatgg cccgggtcca ctgccttccc cgacttcacc aaccccacag
     1561 ccctggcctg gtgggaggac atggtggctg agttccatga ccaggtgccc ttcgacggca
     1621 tgtggattga catgaacgag ccttccaact tcatcagggg ctctgaggac ggctgcccca
     1681 acaatgagct ggagaaccca ccctacgtgc ctggggtggt tggggggacc ctccaggcgg
     1741 ccaccatctg tgcctccagc caccagtttc tctccacaca ctacaacctg cacaacctct
     1801 acggcctgac cgaagccatc gcctcccaca gggcgctggt gaaggctcgg gggacacgcc
     1861 catttgtgat ctcccgctcg acctttgctg gccacggccg atacgccggc cactggacgg
     1921 gggacgtgtg gagctcctgg gagcagctcg cctcctccgt gccagaaatc ctgcagttta
     1981 acctgctggg ggtgcctctg gtcggggccg acgtctgcgg cttcctgggc aacacctcag
     2041 aggagctgtg tgtgcgctgg acccagctgg gggccttcta ccccttcatg cggaaccaca
     2101 acagcctgct cagtctgccc caggagccgt acagcttcag cgagccggcc cagcaggcca
     2161 tgaggaaggc cctcaccctg cgctacgcac tcctccccca cctctacaca ctgttccacc
     2221 aggcccacgt cgcgggggag accgtggccc ggcccctctt cctggagttc cccaaggact
     2281 ctagcacctg gactgtggac caccagctcc tgtgggggga ggccctgctc atcaccccag
     2341 tgctccaggc cgggaaggcc gaagtgactg gctacttccc cttgggcaca tggtacgacc
     2401 tgcagacggt gccagtagag gcccttggca gcctcccacc cccacctgca gctccccgtg
     2461 agccagccat ccacagcgag gggcagtggg tgacgctgcc ggcccccctg gacaccatca
     2521 acgtccacct ccgggctggg tacatcatcc ccctgcaggg ccctggcctc acaaccacag
     2581 agtcccgcca gcagcccatg gccctggctg tggccctgac caagggtggg gaggcccgag
     2641 gggagctgtt ctgggacgat ggagagagcc tggaagtgct ggagcgaggg gcctacacac
     2701 aggtcatctt cctggccagg aataacacga tcgtgaatga gctggtacgt gtgaccagtg
     2761 agggagctgg cctgcagctg cagaaggtga ctgtcctggg cgtggccacg gcgccccagc
     2821 aggtcctctc caacggtgtc cctgtctcca acttcaccta cagccccgac accaaggtcc
     2881 tggacatctg tgtctcgctg ttgatgggag agcagtttct cgtcagctgg tgttagccgg
     2941 gcggagtgtg ttagtctctc cagagggagg ctggttcccc agggaagcag agcctgtgtg
     3001 cgggcagcag ctgtgtgcgg gcctgggggt tgcatgtgtc acctggagct gggcactaac
     3061 cattccaagc cgccgcatcg cttgtttcca cctcctgggc cggggctctg gcccccaacg
     3121 tgtctaggag agctttctcc ctagatcgca ctgtgggccg gggccctgga gggctgctct
     3181 gtgttaataa gattgtaagg tttgccctcc tcacctgttg ccggcatgcg ggtagtatta
     3241 gccacccccc tccatctgtt cccagcaccg gagaaggggg tgctcaggtg gaggtgtggg
     3301 gtatgcacct gagctcctgc ttcgcgcctg ctgctctgcc ccaacgcgac cgctgcccgg
     3361 ctgcccagag ggctggatgc ctgccggtcc ccgagcaagc ctgggaactc aggaaaattc
     3421 acaggacttg ggagattcta aatcttaagt gcaattattt ttaataaaag gggcatttgg
     3481 aatcag
//
