LOCUS       HUMGAAA                 3441 bp    mRNA    linear   HUM 08-NOV-1994
DEFINITION  Human acid alpha-glucosidase (GAA) mRNA, complete cds.
ACCESSION   M34424
VERSION     M34424.1
KEYWORDS    acid alpha-glucosidase; acid maltase.
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 3441)
  AUTHORS   Martiniuk,F., Mehler,M., Tzall,S., Meredith,G. and Hirschhorn,R.
  TITLE     Sequence of the cDNA and 5'-flanking region for human acid alpha-
            glucosidase, detection of an intron in the 5' untranslated leader
            sequence, definition of 18-bp polymorphisms, and differences with
            previous cDNA and amino acid sequences
  JOURNAL   DNA 9, 85-94 (1990)
COMMENT     Original source text: Human, cDNA to mRNA.
FEATURES             Location/Qualifiers
     source          1..3441
                     /db_xref="H-InvDB:HIT000195585"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /map="17q23"
     gene            1..3441
                     /gene="GAA"
     CDS             33..2891
                     /gene="GAA"
                     /note="acid alpha-glucosidase"
                     /codon_start=1
                     /protein_id="AAA52506.1"
                     /db_xref="GDB:G00-119-965"
                     /translation="MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSG
                     SSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQ
                     CEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFF
                     PKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPF
                     GVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRI
                     TLWNRDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTG
                     GILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMT
                     RAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSG
                     PAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHD
                     QVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLS
                     THYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQL
                     ASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQ
                     EPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTV
                     DHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPIEALGSLPPPPAAPREPAI
                     HSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQPMALAVALTKGGEARGE
                     LFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVTVLGVATAPQ
                     QVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC"
BASE COUNT          612 a         1170 c         1027 g          632 t
ORIGIN      
        1 gcctgtagga gctgtccagg ccatctccaa ccatgggagt gaggcacccg ccctgctccc
       61 accggctcct ggccgtctgc gccctcgtgt ccttggcaac cgctgcactc ctggggcaca
      121 tcctactcca tgatttcctg ctggttcccc gagagctgag tggctcctcc ccagtcctgg
      181 aggagactca cccagctcac cagcagggag ccagcagacc agggccccgg gatgcccagg
      241 cacaccccgg ccgtcccaga gcagtgccca cacagtgcga cgtccccccc aacagccgct
      301 tcgattgcgc ccctgacaag gccatcaccc aggaacagtg cgaggcccgc ggctgctgct
      361 acatccctgc aaagcagggg ctgcagggag cccagatggg gcagccctgg tgcttcttcc
      421 cacccagcta ccccagctac aagctggaga acctgagctc ctctgaaatg ggctacacgg
      481 ccaccctgac ccgtaccacc cccaccttct tccccaagga catcctgacc ctgcggctgg
      541 acgtgatgat ggagactgag aaccgcctcc acttcacgat caaagatcca gctaacaggc
      601 gctacgaggt gcccttggag accccgcatg tccacagccg ggcaccgtcc ccactctaca
      661 gcgtggagtt ctccgaggag cccttcgggg tgatcgtgcg ccggcagctg gacggccgcg
      721 tgctgctgaa cacgacggtg gcgcccctgt tctttgcgga ccagttcctt cagctgtcca
      781 cctcgctgcc ctcgcagtat atcacaggcc tcgccgagca cctcagtccc ctgatgctca
      841 gcaccagctg gaccaggatc accctgtgga accgggacct tgcgcccacg cccggtgcga
      901 acctctacgg gtctcaccct ttctacctgg cgctggagga cggcgggtcg gcacacgggg
      961 tgttcctgct aaacagcaat gccatggatg tggtcctgca gccgagccct gcccttagct
     1021 ggaggtcgac aggtgggatc ctggatgtct acatcttcct gggcccagag cccaagagcg
     1081 tggtgcagca gtacctggac gttgtgggat acccgttcat gccgccatac tggggcctgg
     1141 gcttccacct gtgccgctgg ggctactcct ccaccgctat cacccgccag gtggtggaga
     1201 acatgaccag ggcccacttc cccctggacg tccagtggaa cgacctggac tacatggact
     1261 cccggaggga cttcacgttc aacaaggatg gcttccggga cttcccggcc atggtgcagg
     1321 agctgcacca gggcggccgg cgctacatga tgatcgtgga tcctgccatc agcagctcgg
     1381 gccctgccgg gagctacagg ccctacgacg agggtctgcg gaggggggtt ttcatcacca
     1441 acgagaccgg ccagccgctg attgggaagg tatggcccgg gtccactgcc ttccccgact
     1501 tcaccaaccc cacagccctg gcctggtggg aggacatggt ggctgagttc catgaccagg
     1561 tgcccttcga cggcatgtgg attgacatga acgagccttc caacttcatc aggggctctg
     1621 aggacggctg ccccaacaat gagctggaga acccacccta cgtgcctggg gtggttgggg
     1681 ggaccctcca ggcggccacc atctgtgcct ccagccacca gtttctctcc acacactaca
     1741 acctgcacaa cctctacggc ctgaccgaag ccatcgcctc ccacagggcg ctggtgaagg
     1801 ctcgggggac acgcccattt gtgatctccc gctcgacctt tgctggccac ggccgatacg
     1861 ccggccactg gacgggggac gtgtggagct cctgggagca gctcgcctcc tccgtgccag
     1921 aaatcctgca gtttaacctg ctgggggtgc ctctggtcgg ggccgacgtc tgcggcttcc
     1981 tgggcaacac ctcagaggag ctgtgtgtgc gctggaccca gctgggggcc ttctacccct
     2041 tcatgcggaa ccacaacagc ctgctcagtc tgccccagga gccgtacagc ttcagcgagc
     2101 cggcccagca ggccatgagg aaggccctca ccctgcgcta cgcactcctc ccccacctct
     2161 acacactgtt ccaccaggcc cacgtcgcgg gggagaccgt ggcccggccc ctcttcctgg
     2221 agttccccaa ggactctagc acctggactg tggaccacca gctcctgtgg ggggaggccc
     2281 tgctcatcac cccagtgctc caggccggga aggccgaagt gactggctac ttccccttgg
     2341 gcacatggta cgacctgcag acggtgccaa tagaggccct tggcagcctc ccacccccac
     2401 ctgcagctcc ccgtgagcca gccatccaca gcgaggggca gtgggtgacg ctgccggccc
     2461 ccctggacac catcaacgtc cacctccggg ctgggtacat catccccctg cagggccctg
     2521 gcctcacaac cacagagtcc cgccagcagc ccatggccct ggctgtggcc ctgaccaagg
     2581 gtggggaggc ccgaggggag ctgttctggg acgatggaga gagcctggaa gtgctggagc
     2641 gaggggccta cacacaggtc atcttcctgg ccaggaataa cacgatcgtg aatgagctgg
     2701 tacgtgtgac cagtgaggga gctggcctgc agctgcagaa ggtgactgtc ctgggcgtgg
     2761 ccacggcgcc ccagcaggtc ctctccaacg gtgtccctgt ctccaacttc acctacagcc
     2821 ccgacaccaa ggtcctggac atctgtgtct cgctgttgat gggagagcag tttctcgtca
     2881 gctggtgtta gccgggcgga gtgtgttagt ctctccagag ggaggctggt tccccaggga
     2941 agcagagcct gtgtgcgggc agcagctgtg tgcgggcctg ggggttgcat gtgtcacctg
     3001 gagctgggca ctaaccattc caagccgccg catcgcttgt ttccacctcc tgggccgggg
     3061 ctctggcccc caacgtgtct aggagagctt tctccctaga tcgcactgtg ggccggggcc
     3121 tggagggctg ctctgtgtta ataagattgt aaggtttgcc ctcctcacct gttgccggca
     3181 tgcgggtagt attagccacc cccctccatc tgttcccagc accggagaag ggggtgctca
     3241 ggtggaggtg tggggtatgc acctgagctc ctgcttcgcg cctgctgctc tgccccaacg
     3301 cgaccgctgc ccggctgccc agagggctgg atgcctgccg gtccccgagc aagcctggga
     3361 actcaggaaa attcacagga cttgggagat tctaaatctt aagtgcaatt atttttaata
     3421 aaaggggcat ttggaatcaa a
//