LOCUS Y00839 3624 bp mRNA linear HUM 21-OCT-2008
DEFINITION H.sapiens GAA mRNA for lysosomal alpha-glucosidase (acid maltase).
ACCESSION Y00839
VERSION Y00839.1
KEYWORDS alpha-glucosidase; amylase; glycoprotein; lysosomal enzyme.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1
AUTHORS Hoefsloot L.H., Hoogeveen-Westerveld M., Kroos M.A.,
Van Beeumen J., Reuser A.J.J., 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
REMARK (revised by[3])
REFERENCE 2
AUTHORS Reuser A.J.J.
JOURNAL Submitted (24-JUN-1988) to the INSDC.
REMARK (revised by [3])
REFERENCE 3 (bases 1 to 3624)
AUTHORS Reuser A.J.J.
JOURNAL Submitted (08-JUN-1990) to the INSDC. Reuser A.J.J., Department of
Cell Biology and Genetics Erasmus University, P.O. Box 1738, 300 DR
Rotterdam, Netherlands
COMMENT Data kindly reviewed (08-JUN-1990) by Reuser A.
FEATURES Location/Qualifiers
source 1..3624
/db_xref="H-InvDB:HIT000325330"
/organism="Homo sapiens"
/mol_type="mRNA"
/clone_lib="lambda gt11 (testis) and lambda gt11
(VII-75-1;placenta A1)"
/tissue_type="placenta and testis"
/db_xref="taxon:9606"
mRNA <1..3624
/note="alpha-proglucosidase mRNA"
CDS 220..3078
/gene="GAA"
/product="glucan 1, 4-alpha-glucosidase"
/EC_number="3.2.1.3"
/db_xref="GOA:P10253"
/db_xref="H-InvDB:HIT000325330.14"
/db_xref="HGNC:HGNC:4065"
/db_xref="InterPro:IPR000322"
/db_xref="InterPro:IPR000519"
/db_xref="InterPro:IPR011013"
/db_xref="InterPro:IPR013780"
/db_xref="InterPro:IPR017853"
/db_xref="InterPro:IPR017957"
/db_xref="InterPro:IPR025887"
/db_xref="InterPro:IPR030458"
/db_xref="InterPro:IPR030459"
/db_xref="InterPro:IPR031727"
/db_xref="PDB:5KZW"
/db_xref="PDB:5KZX"
/db_xref="PDB:5NN3"
/db_xref="PDB:5NN4"
/db_xref="PDB:5NN5"
/db_xref="PDB:5NN6"
/db_xref="PDB:5NN8"
/db_xref="UniProtKB/Swiss-Prot:P10253"
/protein_id="CAA68763.1"
/translation="MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSG
SSPVLEETHPAHQQGASRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQ
CEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFF
PKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPRVHSRAPSPLYSVEFSEEPF
GVIVHRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRI
TLWNRDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTG
GILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMT
RAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSG
PAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHD
QVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLS
THYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQL
ASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQ
EPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTV
DHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPIEALGSLPPPPAAPREPAI
HSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQPMALAVALTKGGEARGE
LFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVTVLGVATAPQ
QVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC"
sig_peptide 220..426
/gene="GAA"
mat_peptide 427..3075
/product="glucan 1, 4-alpha-glucosidase"
/EC_number="3.2.1.3"
misc_feature 427..828
/note="propiece of 70 kD alpha-glucosidase (AA 1 - 134)"
misc_feature 427..582
/note="propiece of 76 kD alpha-glucosidase (AA 1 - 52)"
misc_feature <583..3075
/note="76 kD alpha-glucosidase (AA 54 - <883)"
misc_feature 637..639
/note="pot. N-linked glycosylation site"
CDS <829..3078
/codon_start=1
/product="70 kD alpha-glucosidase"
/note="no start codon"
/db_xref="GOA:P10253"
/db_xref="HGNC:HGNC:4065"
/db_xref="InterPro:IPR000322"
/db_xref="InterPro:IPR000519"
/db_xref="InterPro:IPR011013"
/db_xref="InterPro:IPR013780"
/db_xref="InterPro:IPR017853"
/db_xref="InterPro:IPR017957"
/db_xref="InterPro:IPR025887"
/db_xref="InterPro:IPR030458"
/db_xref="InterPro:IPR030459"
/db_xref="InterPro:IPR031727"
/db_xref="PDB:5KZW"
/db_xref="PDB:5KZX"
/db_xref="PDB:5NN3"
/db_xref="PDB:5NN4"
/db_xref="PDB:5NN5"
/db_xref="PDB:5NN6"
/db_xref="PDB:5NN8"
/db_xref="UniProtKB/Swiss-Prot:P10253"
/protein_id="CAA68764.1"
/translation="APSPLYSVEFSEEPFGVIVHRQLDGRVLLNTTVAPLFFADQFLQ
LSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGANLYGSHPFYLALEDGG
SAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFM
PPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDGF
RDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGK
VWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNE
LENPPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRP
FVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFLGNT
SEELCVRWTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYT
LFHQAHVAGETVARPLFLEFPKDSSTWTVDHQLLWGEALLITPVLQAGKAEVTGYFPL
GTWYDLQTVPIEALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQ
GPGLTTTESRQQPMALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTI
VNELVRVTSEGAGLQLQKVTVLGVATAPQQVLSNGVPVSNFTYSPDTKVLDICVSLLM
GEQFLVSWC"
misc_feature 916..918
/note="pot. N-linked glycosylation site"
misc_feature 1387..1389
/note="pot. N-linked glycosylation site"
misc_feature 1627..1629
/note="pot. N-linked glycosylation site"
misc_feature 2173..2175
/note="pot. N-linked glycosylation site"
misc_feature 2863..2865
/note="pot. N-linked glycosylation site"
misc_feature 2992..2994
/note="pot. N-linked glycosylation site"
misc_feature 3603..3607
/note="polyA signal"
polyA_site 3624
/note="polyA site"
BASE COUNT 643 a 1220 c 1100 g 661 t
ORIGIN
1 cagttgggaa agctgaggtt gtcgccgggg ccgcgggtgg aggtcgggga tgaggcagca
61 ggtaggacag tgacctcggt gacgcgaagg accccggcca cctctaggtt ctcctcgtcc
121 gcccgttgtt cagcgaggga ggctctgggc ctgccgcagc tgacggggaa actgaggcac
181 ggagcgggcc tgtaggagct gtccaggcca tctccaacca tgggagtgag gcacccgccc
241 tgctcccacc ggctcctggc cgtctgcgcc ctcgtgtcct tggcaaccgc tgcactcctg
301 gggcacatcc tactccatga tttcctgctg gttccccgag agctgagtgg ctcctcccca
361 gtcctggagg agactcaccc agctcaccag cagggagcca gcagaccagg gccccgggat
421 gcccaggcac accccggccg tcccagagca gtgcccacac agtgcgacgt cccccccaac
481 agccgcttcg attgcgcccc tgacaaggcc atcacccagg aacagtgcga ggcccgcggc
541 tgctgctaca tccctgcaaa gcaggggctg cagggagccc agatggggca gccctggtgc
601 ttcttcccac ccagctaccc cagctacaag ctggagaacc tgagctcctc tgaaatgggc
661 tacacggcca ccctgacccg taccaccccc accttcttcc ccaaggacat cctgaccctg
721 cggctggacg tgatgatgga gactgagaac cgcctccact tcacgatcaa agatccagct
781 aacaggcgct acgaggtgcc cttggagacc ccgcgtgtcc acagccgggc accgtcccca
841 ctctacagcg tggagttctc cgaggagccc ttcggggtga tcgtgcaccg gcagctggac
901 ggccgcgtgc tgctgaacac gacggtggcg cccctgttct ttgcggacca gttccttcag
961 ctgtccacct cgctgccctc gcagtatatc acaggcctcg ccgagcacct cagtcccctg
1021 atgctcagca ccagctggac caggatcacc ctgtggaacc gggaccttgc gcccacgccc
1081 ggtgcgaacc tctacgggtc tcaccctttc tacctggcgc tggaggacgg cgggtcggca
1141 cacggggtgt tcctgctaaa cagcaatgcc atggatgtgg tcctgcagcc gagccctgcc
1201 cttagctgga ggtcgacagg tgggatcctg gatgtctaca tcttcctggg cccagagccc
1261 aagagcgtgg tgcagcagta cctggacgtt gtgggatacc cgttcatgcc gccatactgg
1321 ggcctgggct tccacctgtg ccgctggggc tactcctcca ccgctatcac ccgccaggtg
1381 gtggagaaca tgaccagggc ccacttcccc ctggacgtcc aatggaacga cctggactac
1441 atggactccc ggagggactt cacgttcaac aaggatggct tccgggactt cccggccatg
1501 gtgcaggagc tgcaccaggg cggccggcgc tacatgatga tcgtggatcc tgccatcagc
1561 agctcgggcc ctgccgggag ctacaggccc tacgacgagg gtctgcggag gggggttttc
1621 atcaccaacg agaccggcca gccgctgatt gggaaggtat ggcccgggtc cactgccttc
1681 cccgacttca ccaaccccac agccctggcc tggtgggagg acatggtggc tgagttccat
1741 gaccaggtgc ccttcgacgg catgtggatt gacatgaacg agccttccaa cttcatcaga
1801 ggctctgagg acggctgccc caacaatgag ctggagaacc caccctacgt gcctggggtg
1861 gttgggggga ccctccaggc ggccaccatc tgtgcctcca gccaccagtt tctctccaca
1921 cactacaacc tgcacaacct ctacggcctg accgaagcca tcgcctccca cagggcgctg
1981 gtgaaggctc gggggacacg cccatttgtg atctcccgct cgacctttgc tggccacggc
2041 cgatacgccg gccactggac gggggacgtg tggagctcct gggagcagct cgcctcctcc
2101 gtgccagaaa tcctgcagtt taacctgctg ggggtgcctc tggtcggggc cgacgtctgc
2161 ggcttcctgg gcaacacctc agaggagctg tgtgtgcgct ggacccagct gggggccttc
2221 taccccttca tgcggaacca caacagcctg ctcagtctgc cccaggagcc gtacagcttc
2281 agcgagccgg cccagcaggc catgaggaag gccctcaccc tgcgctacgc actcctcccc
2341 cacctctaca cactgttcca ccaggcccac gtcgcggggg agaccgtggc ccggcccctc
2401 ttcctggagt tccccaagga ctctagcacc tggactgtgg accaccagct cctgtggggg
2461 gaggccctgc tcatcacccc agtgctccag gccgggaagg ccgaagtgac tggctacttc
2521 cccttgggca catggtacga cctgcagacg gtgccaatag aggcccttgg cagcctccca
2581 cccccacctg cagctccccg tgagccagcc atccacagcg aggggcagtg ggtgacgctg
2641 ccggcccccc tggacaccat caacgtccac ctccgggctg ggtacatcat ccccctgcag
2701 ggccctggcc tcacaaccac agagtcccgc cagcagccca tggccctggc tgtggccctg
2761 accaagggtg gagaggcccg aggggagctg ttctgggacg atggagagag cctggaagtg
2821 ctggagcgag gggcctacac acaggtcatc ttcctggcca ggaataacac gatcgtgaat
2881 gagctggtac gtgtgaccag tgagggagct ggcctgcagc tgcagaaggt gactgtcctg
2941 ggcgtggcca cggcgcccca gcaggtcctc tccaacggtg tccctgtctc caacttcacc
3001 tacagccccg acaccaaggt cctggacatc tgtgtctcgc tgttgatggg agagcagttt
3061 ctcgtcagct ggtgttagcc gggcggagtg tgttagtctc tccagaggga ggctggttcc
3121 ccagggaagc agagcctgtg tgcgggcagc agctgtgtgc gggcctgggg gttgcatgtg
3181 tcacctggag ctgggcacta accattccaa gccgccgcat cgcttgtttc cacctcctgg
3241 gccggggctc tggcccccaa cgtgtctagg agagctttct ccctagatcg cactgtgggc
3301 cggggcctgg agggctgctc tgtgttaata agattgtaag gtttgccctc ctcacctgtt
3361 gccggcatgc gggtagtatt agccaccccc ctccatctgt tcccagcacc ggagaagggg
3421 gtgctcaggt ggaggtgtgg ggtatgcacc tgagctcctg cttcgcgcct gctgctctgc
3481 cccaacgcga ccgcttcccg gctgcccaga gggctggatg cctgccggtc cccgagcaag
3541 cctgggaact caggaaaatt cacaggactt gggagattct aaatcttaag tgcaattatt
3601 ttaataaaag gggcatttgg aatc
//