LOCUS       NM_000152               3751 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens alpha glucosidase (GAA), transcript variant 1, mRNA.
ACCESSION   NM_000152
VERSION     NM_000152.5
KEYWORDS    RefSeq; MANE Select.
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 3751)
  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 3751)
  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 3751)
  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 3751)
  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 3751)
  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 3751)
  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 3751)
  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 3751)
  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 3751)
  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 3751)
  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 HY101855.1, HY047261.1,
            HY015584.1, Y00839.1, BF206270.1, M34424.1, BQ711289.1, BC040431.1
            and BF344248.1.
            
            On Nov 22, 2018 this sequence version replaced NM_000152.4.
            
            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 (1) represents the longest
            transcript. 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 :: Y00839.1, SRR1660809.207766.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000302262.8/ ENSP00000305692.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-45                HY101855.1         56-100
            46-204              HY047261.1         5-163
            205-588             HY015584.1         154-537
            589-665             Y00839.1           466-542
            666-1053            BF206270.1         243-630
            1054-2679           M34424.1           744-2369
            2680-3294           BQ711289.1         76-690
            3295-3747           BC040431.1         3097-3549
            3748-3751           BF344248.1         383-386
FEATURES             Location/Qualifiers
     source          1..3751
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..3751
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /note="alpha glucosidase"
                     /db_xref="GeneID:2548"
                     /db_xref="HGNC:HGNC:4065"
                     /db_xref="MIM:606800"
     exon            1..310
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            311..888
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     CDS             343..3201
                     /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_000143.2"
                     /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            889..1034
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            1035..1200
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            1201..1297
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            1298..1417
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            1418..1536
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            1537..1668
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            1669..1779
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            1780..1893
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            1894..1978
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            1979..2096
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            2097..2230
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            2231..2382
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            2383..2531
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            2532..2673
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            2674..2823
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            2824..2988
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            2989..3141
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     exon            3142..3751
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3728..3733
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /note="hexamer: AATAAA"
     polyA_site      3751
                     /gene="GAA"
                     /gene_synonym="LYAG"
                     /note="major polyA site"
ORIGIN      
        1 cgaccccgga gtctccgcgg gcggccaggg cgcgcgtgcg cggaggtgag ccgggccggg
       61 gctgcggggc ttccctgagc gcgggccggg tcggtggggc ggtcggctgc ccgcgcggcc
      121 tctcagttgg gaaagctgag gttgtcgccg gggccgcggg tggaggtcgg ggatgaggca
      181 gcaggtagga cagtgacctc ggtgacgcga aggaccccgg ccacctctag gttctcctcg
      241 tccgcccgtt gttcagcgag ggaggctctg cgcgtgccgc agctgacggg gaaactgagg
      301 cacggagcgg gcctgtagga gctgtccagg ccatctccaa ccatgggagt gaggcacccg
      361 ccctgctccc accggctcct ggccgtctgc gccctcgtgt ccttggcaac cgctgcactc
      421 ctggggcaca tcctactcca tgatttcctg ctggttcccc gagagctgag tggctcctcc
      481 ccagtcctgg aggagactca cccagctcac cagcagggag ccagcagacc agggccccgg
      541 gatgcccagg cacaccccgg ccgtcccaga gcagtgccca cacagtgcga cgtccccccc
      601 aacagccgct tcgattgcgc ccctgacaag gccatcaccc aggaacagtg cgaggcccgc
      661 ggctgttgct acatccctgc aaagcagggg ctgcagggag cccagatggg gcagccctgg
      721 tgcttcttcc cacccagcta ccccagctac aagctggaga acctgagctc ctctgaaatg
      781 ggctacacgg ccaccctgac ccgtaccacc cccaccttct tccccaagga catcctgacc
      841 ctgcggctgg acgtgatgat ggagactgag aaccgcctcc acttcacgat caaagatcca
      901 gctaacaggc gctacgaggt gcccttggag accccgcatg tccacagccg ggcaccgtcc
      961 ccactctaca gcgtggagtt ctccgaggag cccttcgggg tgatcgtgcg ccggcagctg
     1021 gacggccgcg tgctgctgaa cacgacggtg gcgcccctgt tctttgcgga ccagttcctt
     1081 cagctgtcca cctcgctgcc ctcgcagtat atcacaggcc tcgccgagca cctcagtccc
     1141 ctgatgctca gcaccagctg gaccaggatc accctgtgga accgggacct tgcgcccacg
     1201 cccggtgcga acctctacgg gtctcaccct ttctacctgg cgctggagga cggcgggtcg
     1261 gcacacgggg tgttcctgct aaacagcaat gccatggatg tggtcctgca gccgagccct
     1321 gcccttagct ggaggtcgac aggtgggatc ctggatgtct acatcttcct gggcccagag
     1381 cccaagagcg tggtgcagca gtacctggac gttgtgggat acccgttcat gccgccatac
     1441 tggggcctgg gcttccacct gtgccgctgg ggctactcct ccaccgctat cacccgccag
     1501 gtggtggaga acatgaccag ggcccacttc cccctggacg tccagtggaa cgacctggac
     1561 tacatggact cccggaggga cttcacgttc aacaaggatg gcttccggga cttcccggcc
     1621 atggtgcagg agctgcacca gggcggccgg cgctacatga tgatcgtgga tcctgccatc
     1681 agcagctcgg gccctgccgg gagctacagg ccctacgacg agggtctgcg gaggggggtt
     1741 ttcatcacca acgagaccgg ccagccgctg attgggaagg tatggcccgg gtccactgcc
     1801 ttccccgact tcaccaaccc cacagccctg gcctggtggg aggacatggt ggctgagttc
     1861 catgaccagg tgcccttcga cggcatgtgg attgacatga acgagccttc caacttcatc
     1921 aggggctctg aggacggctg ccccaacaat gagctggaga acccacccta cgtgcctggg
     1981 gtggttgggg ggaccctcca ggcggccacc atctgtgcct ccagccacca gtttctctcc
     2041 acacactaca acctgcacaa cctctacggc ctgaccgaag ccatcgcctc ccacagggcg
     2101 ctggtgaagg ctcgggggac acgcccattt gtgatctccc gctcgacctt tgctggccac
     2161 ggccgatacg ccggccactg gacgggggac gtgtggagct cctgggagca gctcgcctcc
     2221 tccgtgccag aaatcctgca gtttaacctg ctgggggtgc ctctggtcgg ggccgacgtc
     2281 tgcggcttcc tgggcaacac ctcagaggag ctgtgtgtgc gctggaccca gctgggggcc
     2341 ttctacccct tcatgcggaa ccacaacagc ctgctcagtc tgccccagga gccgtacagc
     2401 ttcagcgagc cggcccagca ggccatgagg aaggccctca ccctgcgcta cgcactcctc
     2461 ccccacctct acacactgtt ccaccaggcc cacgtcgcgg gggagaccgt ggcccggccc
     2521 ctcttcctgg agttccccaa ggactctagc acctggactg tggaccacca gctcctgtgg
     2581 ggggaggccc tgctcatcac cccagtgctc caggccggga aggccgaagt gactggctac
     2641 ttccccttgg gcacatggta cgacctgcag acggtgccag tagaggccct tggcagcctc
     2701 ccacccccac ctgcagctcc ccgtgagcca gccatccaca gcgaggggca gtgggtgacg
     2761 ctgccggccc ccctggacac catcaacgtc cacctccggg ctgggtacat catccccctg
     2821 cagggccctg gcctcacaac cacagagtcc cgccagcagc ccatggccct ggctgtggcc
     2881 ctgaccaagg gtggggaggc ccgaggggag ctgttctggg acgatggaga gagcctggaa
     2941 gtgctggagc gaggggccta cacacaggtc atcttcctgg ccaggaataa cacgatcgtg
     3001 aatgagctgg tacgtgtgac cagtgaggga gctggcctgc agctgcagaa ggtgactgtc
     3061 ctgggcgtgg ccacggcgcc ccagcaggtc ctctccaacg gtgtccctgt ctccaacttc
     3121 acctacagcc ccgacaccaa ggtcctggac atctgtgtct cgctgttgat gggagagcag
     3181 tttctcgtca gctggtgtta gccgggcgga gtgtgttagt ctctccagag ggaggctggt
     3241 tccccaggga agcagagcct gtgtgcgggc agcagctgtg tgcgggcctg ggggttgcat
     3301 gtgtcacctg gagctgggca ctaaccattc caagccgccg catcgcttgt ttccacctcc
     3361 tgggccgggg ctctggcccc caacgtgtct aggagagctt tctccctaga tcgcactgtg
     3421 ggccggggcc ctggagggct gctctgtgtt aataagattg taaggtttgc cctcctcacc
     3481 tgttgccggc atgcgggtag tattagccac ccccctccat ctgttcccag caccggagaa
     3541 gggggtgctc aggtggaggt gtggggtatg cacctgagct cctgcttcgc gcctgctgct
     3601 ctgccccaac gcgaccgctg cccggctgcc cagagggctg gatgcctgcc ggtccccgag
     3661 caagcctggg aactcaggaa aattcacagg acttgggaga ttctaaatct taagtgcaat
     3721 tatttttaat aaaaggggca tttggaatca g
//
