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 //