Lysosomal alpha-glucosidase

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functionⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityⁱ

• Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-glucose residues with release of alpha-D-glucose.By similarity

  Manual assertion inferred from sequence similarity toⁱ

  • UniProtKB:P10253 (LYAG_HUMAN)

  EC:3.2.1.20

Sites

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• alpha-1,4-glucosidase activity Source: RGD <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ
  • "Rat brain contains high levels of mannose-6-phosphorylated glycoproteins including lysosomal enzymes and palmitoyl-protein thioesterase, an enzyme implicated in infantile neuronal lipofuscinosis."
    Sleat D.E., Sohar I., Lackland H., Majercak J., Lobel P.
    J. Biol. Chem. 271:19191-19198(1996) [PubMed] [Europe PMC] [Abstract]
  • "Glycogen metabolism in the rat visceral yolk sac. 2. Activity of glycogen-degrading enzymes."
    Williams K.E., Hartfield P.J., Cable H., Lloyd J.B.
    Placenta 16:719-726(1995) [PubMed] [Europe PMC] [Abstract]
• carbohydrate binding Source: RGDInferred from direct assayⁱ
  • "Rat brain contains high levels of mannose-6-phosphorylated glycoproteins including lysosomal enzymes and palmitoyl-protein thioesterase, an enzyme implicated in infantile neuronal lipofuscinosis."
    Sleat D.E., Sohar I., Lackland H., Majercak J., Lobel P.
    J. Biol. Chem. 271:19191-19198(1996) [PubMed] [Europe PMC] [Abstract]
• maltose alpha-glucosidase activity Source: UniProtKB-EC

GO - Biological processⁱ

• cardiac muscle contraction Source: RGDInferred from sequence orthologyⁱ
  • "Identification of two subtypes of infantile acid maltase deficiency."
    Slonim A.E., Bulone L., Ritz S., Goldberg T., Chen A., Martiniuk F.
    J. Pediatr. 137:283-285(2000) [PubMed] [Europe PMC] [Abstract]
• diaphragm contraction Source: RGDInferred from sequence orthologyⁱ
  • "Rescue of enzyme deficiency in embryonic diaphragm in a mouse model of metabolic myopathy: Pompe disease."
    Rucker M., Fraites T.J. Jr., Porvasnik S.L., Lewis M.A., Zolotukhin I., Cloutier D.A., Byrne B.J.
    Development 131:3007-3019(2004) [PubMed] [Europe PMC] [Abstract]
  • "Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II."
    Montalvo A.L., Bembi B., Donnarumma M., Filocamo M., Parenti G., Rossi M., Merlini L., Buratti E., De Filippi P., Dardis A., Stroppiano M., Ciana G., Pittis M.G.
    Hum. Mutat. 27:999-1006(2006) [PubMed] [Europe PMC] [Abstract]
• glycogen catabolic process Source: RGDInferred from direct assayⁱ
  • "Glycogen metabolism in the rat visceral yolk sac. 2. Activity of glycogen-degrading enzymes."
    Williams K.E., Hartfield P.J., Cable H., Lloyd J.B.
    Placenta 16:719-726(1995) [PubMed] [Europe PMC] [Abstract]
• glycogen metabolic process Source: RGDInferred from sequence orthologyⁱ
  • "Pathological features of glycogen storage disease type II highlighted in the knockout mouse model."
    Bijvoet A.G., Van Hirtum H., Vermey M., Van Leenen D., Van Der Ploeg A.T., Mooi W.J., Reuser A.J.
    J. Pathol. 189:416-424(1999) [PubMed] [Europe PMC] [Abstract]
  • "Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy."
    Raben N., Lu N., Nagaraju K., Rivera Y., Lee A., Yan B., Byrne B., Meikle P.J., Umapathysivam K., Hopwood J.J., Plotz P.H.
    Hum. Mol. Genet. 10:2039-2047(2001) [PubMed] [Europe PMC] [Abstract]
  • "Impaired performance of skeletal muscle in alpha-glucosidase knockout mice."
    Hesselink R.P., Gorselink M., Schaart G., Wagenmakers A.J., Kamphoven J., Reuser A.J., Van Der Vusse G.J., Drost M.R.
    Muscle Nerve 25:873-883(2002) [PubMed] [Europe PMC] [Abstract]
  • "Rescue of enzyme deficiency in embryonic diaphragm in a mouse model of metabolic myopathy: Pompe disease."
    Rucker M., Fraites T.J. Jr., Porvasnik S.L., Lewis M.A., Zolotukhin I., Cloutier D.A., Byrne B.J.
    Development 131:3007-3019(2004) [PubMed] [Europe PMC] [Abstract]
  • "Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse."
    Kamphoven J.H., de Ruiter M.M., Winkel L.P., Van den Hout H.M., Bijman J., De Zeeuw C.I., Hoeve H.L., Van Zanten B.A., Van der Ploeg A.T., Reuser A.J.
    Neurobiol. Dis. 16:14-20(2004) [PubMed] [Europe PMC] [Abstract]
  • "Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease."
    Bijvoet A.G., van de Kamp E.H., Kroos M.A., Ding J.H., Yang B.Z., Visser P., Bakker C.E., Verbeet M.P., Oostra B.A., Reuser A.J., van der Ploeg A.T.
    Hum. Mol. Genet. 7:53-62(1998) [PubMed] [Europe PMC] [Abstract]
  • "Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II."
    Raben N., Nagaraju K., Lee E., Kessler P., Byrne B., Lee L., LaMarca M., King C., Ward J., Sauer B., Plotz P.
    J. Biol. Chem. 273:19086-19092(1998) [PubMed] [Europe PMC] [Abstract]
• heart morphogenesis Source: RGDInferred from sequence orthologyⁱ
  • "Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease."
    Bijvoet A.G., van de Kamp E.H., Kroos M.A., Ding J.H., Yang B.Z., Visser P., Bakker C.E., Verbeet M.P., Oostra B.A., Reuser A.J., van der Ploeg A.T.
    Hum. Mol. Genet. 7:53-62(1998) [PubMed] [Europe PMC] [Abstract]
• locomotory behavior Source: RGDInferred from sequence orthologyⁱ
  • "Pathological features of glycogen storage disease type II highlighted in the knockout mouse model."
    Bijvoet A.G., Van Hirtum H., Vermey M., Van Leenen D., Van Der Ploeg A.T., Mooi W.J., Reuser A.J.
    J. Pathol. 189:416-424(1999) [PubMed] [Europe PMC] [Abstract]
  • "Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase gene."
    Raben N., Nagaraju K., Lee E., Plotz P.
    Neuromuscul. Disord. 10:283-291(2000) [PubMed] [Europe PMC] [Abstract]
  • "Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II."
    Raben N., Nagaraju K., Lee E., Kessler P., Byrne B., Lee L., LaMarca M., King C., Ward J., Sauer B., Plotz P.
    J. Biol. Chem. 273:19086-19092(1998) [PubMed] [Europe PMC] [Abstract]
• lysosome organization Source: RGDInferred from sequence orthologyⁱ
  • "Pathological features of glycogen storage disease type II highlighted in the knockout mouse model."
    Bijvoet A.G., Van Hirtum H., Vermey M., Van Leenen D., Van Der Ploeg A.T., Mooi W.J., Reuser A.J.
    J. Pathol. 189:416-424(1999) [PubMed] [Europe PMC] [Abstract]
  • "Cardiac remodeling and contractile function in acid alpha-glucosidase knockout mice."
    Kamphoven J.H., Stubenitsky R., Reuser A.J., Van Der Ploeg A.T., Verdouw P.D., Duncker D.J.
    Physiol. Genomics 5:171-179(2001) [PubMed] [Europe PMC] [Abstract]
  • "Impaired performance of skeletal muscle in alpha-glucosidase knockout mice."
    Hesselink R.P., Gorselink M., Schaart G., Wagenmakers A.J., Kamphoven J., Reuser A.J., Van Der Vusse G.J., Drost M.R.
    Muscle Nerve 25:873-883(2002) [PubMed] [Europe PMC] [Abstract]
  • "Rescue of enzyme deficiency in embryonic diaphragm in a mouse model of metabolic myopathy: Pompe disease."
    Rucker M., Fraites T.J. Jr., Porvasnik S.L., Lewis M.A., Zolotukhin I., Cloutier D.A., Byrne B.J.
    Development 131:3007-3019(2004) [PubMed] [Europe PMC] [Abstract]
  • "Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II."
    Boerkoel C.F., Exelbert R., Nicastri C., Nichols R.C., Miller F.W., Plotz P.H., Raben N.
    Am. J. Hum. Genet. 56:887-897(1995) [PubMed] [Europe PMC] [Abstract]
  • "Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease."
    Bijvoet A.G., van de Kamp E.H., Kroos M.A., Ding J.H., Yang B.Z., Visser P., Bakker C.E., Verbeet M.P., Oostra B.A., Reuser A.J., van der Ploeg A.T.
    Hum. Mol. Genet. 7:53-62(1998) [PubMed] [Europe PMC] [Abstract]
  • "Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II."
    Raben N., Nagaraju K., Lee E., Kessler P., Byrne B., Lee L., LaMarca M., King C., Ward J., Sauer B., Plotz P.
    J. Biol. Chem. 273:19086-19092(1998) [PubMed] [Europe PMC] [Abstract]
• muscle cell cellular homeostasis Source: RGDInferred from sequence orthologyⁱ
  • "Pathological features of glycogen storage disease type II highlighted in the knockout mouse model."
    Bijvoet A.G., Van Hirtum H., Vermey M., Van Leenen D., Van Der Ploeg A.T., Mooi W.J., Reuser A.J.
    J. Pathol. 189:416-424(1999) [PubMed] [Europe PMC] [Abstract]
  • "Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase gene."
    Raben N., Nagaraju K., Lee E., Plotz P.
    Neuromuscul. Disord. 10:283-291(2000) [PubMed] [Europe PMC] [Abstract]
  • "Impaired performance of skeletal muscle in alpha-glucosidase knockout mice."
    Hesselink R.P., Gorselink M., Schaart G., Wagenmakers A.J., Kamphoven J., Reuser A.J., Van Der Vusse G.J., Drost M.R.
    Muscle Nerve 25:873-883(2002) [PubMed] [Europe PMC] [Abstract]
  • "Age-related decline in muscle strength and power output in acid 1-4 alpha-glucosidase knockout mice."
    Hesselink R.P., Van Kranenburg G., Wagenmakers A.J., Van der Vusse G.J., Drost M.R.
    Muscle Nerve 31:374-381(2005) [PubMed] [Europe PMC] [Abstract]
  • "Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II."
    Raben N., Nagaraju K., Lee E., Kessler P., Byrne B., Lee L., LaMarca M., King C., Ward J., Sauer B., Plotz P.
    J. Biol. Chem. 273:19086-19092(1998) [PubMed] [Europe PMC] [Abstract]
• neuromuscular process controlling balance Source: RGDInferred from sequence orthologyⁱ
  • "Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase gene."
    Raben N., Nagaraju K., Lee E., Plotz P.
    Neuromuscul. Disord. 10:283-291(2000) [PubMed] [Europe PMC] [Abstract]
• neuromuscular process controlling posture Source: RGDInferred from sequence orthologyⁱ
  • "Pathological features of glycogen storage disease type II highlighted in the knockout mouse model."
    Bijvoet A.G., Van Hirtum H., Vermey M., Van Leenen D., Van Der Ploeg A.T., Mooi W.J., Reuser A.J.
    J. Pathol. 189:416-424(1999) [PubMed] [Europe PMC] [Abstract]
• regulation of the force of heart contraction Source: RGDInferred from sequence orthologyⁱ
  • "Cardiac remodeling and contractile function in acid alpha-glucosidase knockout mice."
    Kamphoven J.H., Stubenitsky R., Reuser A.J., Van Der Ploeg A.T., Verdouw P.D., Duncker D.J.
    Physiol. Genomics 5:171-179(2001) [PubMed] [Europe PMC] [Abstract]
• striated muscle contraction Source: RGDInferred from sequence orthologyⁱ
  • "Impaired performance of skeletal muscle in alpha-glucosidase knockout mice."
    Hesselink R.P., Gorselink M., Schaart G., Wagenmakers A.J., Kamphoven J., Reuser A.J., Van Der Vusse G.J., Drost M.R.
    Muscle Nerve 25:873-883(2002) [PubMed] [Europe PMC] [Abstract]
  • "Age-related decline in muscle strength and power output in acid 1-4 alpha-glucosidase knockout mice."
    Hesselink R.P., Van Kranenburg G., Wagenmakers A.J., Van der Vusse G.J., Drost M.R.
    Muscle Nerve 31:374-381(2005) [PubMed] [Europe PMC] [Abstract]
• tissue development Source: RGDInferred from sequence orthologyⁱ
  • "Pathological features of glycogen storage disease type II highlighted in the knockout mouse model."
    Bijvoet A.G., Van Hirtum H., Vermey M., Van Leenen D., Van Der Ploeg A.T., Mooi W.J., Reuser A.J.
    J. Pathol. 189:416-424(1999) [PubMed] [Europe PMC] [Abstract]
• vacuolar sequestering Source: RGDInferred from sequence orthologyⁱ
  • "Identification of two subtypes of infantile acid maltase deficiency."
    Slonim A.E., Bulone L., Ritz S., Goldberg T., Chen A., Martiniuk F.
    J. Pediatr. 137:283-285(2000) [PubMed] [Europe PMC] [Abstract]

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsⁱ

Enzyme and pathway databases

Protein family/group databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

Keywords - Cellular componentⁱ

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechⁱ

Chemistry databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

Amino acid modifications

Keywords - PTMⁱ

Proteomic databases

PTM databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactionⁱ

Protein-protein interaction databases

Chemistry databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structureⁱ

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

Domains and Repeats

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesⁱ

Keywords - Domainⁱ

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)ⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingⁱ: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

        10         20         30         40         50
MNIRKPLCSN SVVGACTLVS LTTAVILGHL MLRELMLLPQ DLHESSSGLW 
        60         70         80         90        100
KTYRPHHQES YEPAPLHIQE HAEQLRAVPT QCDVTPNSRF DCAPDKGITQ 
       110        120        130        140        150
EQCEARGCCW VPAGQVLNGP VMGQPWCFFP PSYPSYRLEN LSSTESGYTA 
       160        170        180        190        200
TLTRTSPTFF PKDVLTLQLE VLMETDSRLH FMIKDPTSKR YEVPLETPRV 
       210        220        230        240        250
LSQAPSPLYS VEFSEEPFGV IVRRKLGGRV LLNTTVAPLF FADQFLQLST 
       260        270        280        290        300
SLPSQHIAGL GEHLSPLMLS TEWTRITLWN RDVAPSQGVN LYGSHPFYLA 
       310        320        330        340        350
LEDGGLAHGV FLLNSNAMDV VLQPSPALTW RSTGGILDVY VFLGPEPKSV 
       360        370        380        390        400
VQQYLDVVGY PFMPPYWGLG FHLCRWGYSS TAIVRQVVEN MTRTHFPLDV 
       410        420        430        440        450
QWNDLDYMDA RRDFTFNQDG FADFPDMVHE LHQGGRRYMM IVDPAISSSG 
       460        470        480        490        500
PAGSYRPYDE GLRRGVFITN ETGQPLIGKV WPGSTAFPDF TNPETLDWWQ 
       510        520        530        540        550
DMVSEFHAQV PFDGMWIDMN EPSNFIRGSQ QGCPDNELEN PPYVPGVVGG 
       560        570        580        590        600
ALQAATICAS SHQFLSTHYN LHNLYGLTEA IASSRALVKT RGTRPFVISR 
       610        620        630        640        650
STFAGHGRYA GHWTGDVWSS WEHLAYSVPE ILQFNLLGVP LVGADICGFQ 
       660        670        680        690        700
GNTTEELCVR WTQLGAFYPF MRNHNDLNSL PQEPYRFSET AQQAMRKAFT 
       710        720        730        740        750
LRYALLPYLY TLFHGAHVKG DTVARPLFLE FPEDPSTWSV DRQLLWGPAL 
       760        770        780        790        800
LITPVLEPGK TDVTGYFPKG MWYNLQMVPV ETLGSLPSSS PASSFRSIVH 
       810        820        830        840        850
SKGQWLTLEA PLDTINVHLR AGYIIPLQGP SLTTTESRKQ PMALAVALTE 
       860        870        880        890        900
SGEASGELFW DDGESLGVLE RGAYTLVTFS AKNNTIVNKL VHVTKEGGEL 
       910        920        930        940        950
QLREVTILGV TTAPTQVLSN GISVSNFTYS PDDKSLSIPV SLLMGERFQI 

DWS                                                    

Sequence databases

Genome annotation databases

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ

• 90% Identity
• 50% Identity

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

Protein family/group databases

PTM databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

Keywords - Technical termⁱ

Documents

1. SIMILARITY comments
   Index of protein domains and families
2. Glycosyl hydrolases
   Classification of glycosyl hydrolase families and list of entries