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Protein

Lysosomal alpha-glucosidase

Gene

GAA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

Essential for the degradation of glycogen in lysosomes (PubMed:1856189, PubMed:7717400, PubMed:14695532, PubMed:18429042). Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans (PubMed:29061980).5 Publications

<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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei404Substrate1 Publication1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei518NucleophilePROSITE-ProRule annotation1 Publication1 Publication1
Active sitei521By similarity1
Binding sitei600Substrate1 Publication1
Binding sitei616Substrate1 Publication1
Binding sitei674Substrate1 Publication1

<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

GO - Biological processi

<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

Molecular functionGlycosidase, Hydrolase

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

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BRENDAi
3.2.1.20 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-5357609 Glycogen storage disease type II (GAA)
R-HSA-6798695 Neutrophil degranulation
R-HSA-70221 Glycogen breakdown (glycogenolysis)

Protein family/group databases

Carbohydrate-Active enZymes

More...
CAZyi
GH31 Glycoside Hydrolase Family 31

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Lysosomal alpha-glucosidase (EC:3.2.1.204 Publications)
Alternative name(s):
Acid maltase
Aglucosidase alfa
Cleaved into the following 2 chains:
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GAA
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000171298.12

Human Gene Nomenclature Database

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HGNCi
HGNC:4065 GAA

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606800 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P10253

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Lysosome, Membrane

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Glycogen storage disease 2 (GSD2)41 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA metabolic disorder with a broad clinical spectrum. The severe infantile form, or Pompe disease, presents at birth with massive accumulation of glycogen in muscle, heart and liver. Cardiomyopathy and muscular hypotonia are the cardinal features of this form whose life expectancy is less than two years. The juvenile and adult forms present as limb-girdle muscular dystrophy beginning in the lower limbs. Final outcome depends on respiratory muscle failure. Patients with the adult form can be free of clinical symptoms for most of their life but finally develop a slowly progressive myopathy.
See also OMIM:232300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06856446S → P in GSD2. 1 PublicationCorresponds to variant dbSNP:rs777215354Ensembl.1
Natural variantiVAR_018078103C → G in GSD2; infantile form; severe; loss of activity; shows enzyme localization primarily in the ER-Golgi compartment suggesting that mutation could affect the normal processing and stability of the enzyme. 3 PublicationsCorresponds to variant dbSNP:rs398123174EnsemblClinVar.1
Natural variantiVAR_068567103C → R in GSD2. 1 Publication1
Natural variantiVAR_068568108C → G in GSD2. 1 Publication1
Natural variantiVAR_068569127C → F in GSD2. 1 Publication1
Natural variantiVAR_068570190R → H in GSD2. 1 PublicationCorresponds to variant dbSNP:rs528367092EnsemblClinVar.1
Natural variantiVAR_046467191Y → C in GSD2; extremely low residual enzymatic activity. 1 Publication1
Natural variantiVAR_029025208L → P in GSD2. 1 Publication1
Natural variantiVAR_068571217P → L in GSD2. 1 Publication1
Natural variantiVAR_018079219G → R in GSD2; infantile form; severe; loss of activity. 3 PublicationsCorresponds to variant dbSNP:rs370950728EnsemblClinVar.1
Natural variantiVAR_068574224R → P in GSD2. 1 Publication1
Natural variantiVAR_068575224R → Q in GSD2. 1 PublicationCorresponds to variant dbSNP:rs200210219Ensembl.1
Natural variantiVAR_029026224R → W in GSD2; infantile; mild partial loss of activity. 3 PublicationsCorresponds to variant dbSNP:rs757700700EnsemblClinVar.1
Natural variantiVAR_068576234T → K in GSD2. 2 Publications1
Natural variantiVAR_068577234T → R in GSD2. 1 Publication1
Natural variantiVAR_029027237A → V in GSD2. 1 PublicationCorresponds to variant dbSNP:rs121907944EnsemblClinVar.1
Natural variantiVAR_068578251S → L in GSD2. 1 PublicationCorresponds to variant dbSNP:rs200856561EnsemblClinVar.1
Natural variantiVAR_068579254S → L in GSD2. 1 PublicationCorresponds to variant dbSNP:rs577915581EnsemblClinVar.1
Natural variantiVAR_029028262E → K in GSD2; infantile; severe. 3 PublicationsCorresponds to variant dbSNP:rs201896815EnsemblClinVar.1
Natural variantiVAR_068580266P → S in GSD2. 1 Publication1
Natural variantiVAR_018080285P → R in GSD2; juvenile form; mild; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs764622267EnsemblClinVar.1
Natural variantiVAR_068582285P → S in GSD2. 1 PublicationCorresponds to variant dbSNP:rs886042086EnsemblClinVar.1
Natural variantiVAR_068584291L → F in GSD2. 1 PublicationCorresponds to variant dbSNP:rs773417785Ensembl.1
Natural variantiVAR_068585291L → P in GSD2. 2 Publications1
Natural variantiVAR_018081292Y → C in GSD2; juvenile form; mild; partial loss of activity. 1 PublicationCorresponds to variant dbSNP:rs1057516600Ensembl.1
Natural variantiVAR_018082293G → R in GSD2; infantile form; severe; almost complete loss of activity. 3 PublicationsCorresponds to variant dbSNP:rs121907945EnsemblClinVar.1
Natural variantiVAR_004288299L → R in GSD2; infantile form. 1 PublicationCorresponds to variant dbSNP:rs121907940EnsemblClinVar.1
Natural variantiVAR_046468308H → L in GSD2. 1 Publication1
Natural variantiVAR_018083308H → P in GSD2; infantile form; severe; complete loss of activity. 1 Publication1
Natural variantiVAR_018084309G → R in GSD2; severe. 2 PublicationsCorresponds to variant dbSNP:rs543300039EnsemblClinVar.1
Natural variantiVAR_018085312L → R in GSD2; infantile form; severe; loss of activity. 1 Publication1
Natural variantiVAR_068587316N → I in GSD2. 1 Publication1
Natural variantiVAR_068588318M → K in GSD2. 1 Publication1
Natural variantiVAR_004289318M → T in GSD2; severe. 1 PublicationCorresponds to variant dbSNP:rs121907936EnsemblClinVar.1
Natural variantiVAR_029029324P → L in GSD2. 1 PublicationCorresponds to variant dbSNP:rs750030887EnsemblClinVar.1
Natural variantiVAR_029030330W → G in GSD2; infantile form; severe. 1 Publication1
Natural variantiVAR_068589335G → E in GSD2. 1 PublicationCorresponds to variant dbSNP:rs730880022EnsemblClinVar.1
Natural variantiVAR_068590335G → R in GSD2. 1 PublicationCorresponds to variant dbSNP:rs202095215Ensembl.1
Natural variantiVAR_068591347P → R in GSD2. 1 Publication1
Natural variantiVAR_018086355L → P in GSD2; infantile form; severe; loss of activity. 5 PublicationsCorresponds to variant dbSNP:rs766074609EnsemblClinVar.1
Natural variantiVAR_029031361P → L in GSD2; juvenile form; severe. 3 PublicationsCorresponds to variant dbSNP:rs755253527EnsemblClinVar.1
Natural variantiVAR_018087374C → R in GSD2; infantile form; severe; loss of activity. 1 Publication1
Natural variantiVAR_046469375R → L in GSD2; extremely low residual enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs142752477EnsemblClinVar.1
Natural variantiVAR_029032377G → R in GSD2; severe. Corresponds to variant dbSNP:rs752002666EnsemblClinVar.1
Natural variantiVAR_068594397P → L in GSD2. 1 PublicationCorresponds to variant dbSNP:rs776008078EnsemblClinVar.1
Natural variantiVAR_046470401Q → R in GSD2; extremely low residual enzymatic activity. 1 Publication1
Natural variantiVAR_004290402W → R in GSD2; severe. 1
Natural variantiVAR_029033404D → N in GSD2; severe. Corresponds to variant dbSNP:rs141533320Ensembl.1
Natural variantiVAR_018088405L → P in GSD2; infantile form; severe; loss of activity. 1 Publication1
Natural variantiVAR_029034408M → V in GSD2; juvenile form; severe. 2 PublicationsCorresponds to variant dbSNP:rs560575383EnsemblClinVar.1
Natural variantiVAR_068595419D → V in GSD2. 1 Publication1
Natural variantiVAR_070017431 – 433Missing in GSD2. 1 Publication3
Natural variantiVAR_029035437R → C in GSD2; juvenile form; severe. 1 PublicationCorresponds to variant dbSNP:rs770610356EnsemblClinVar.1
Natural variantiVAR_074277437R → H in GSD2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs150868652EnsemblClinVar.1
Natural variantiVAR_029036445A → P in GSD2. 1 Publication1
Natural variantiVAR_018089455Y → F in GSD2; juvenile form; almost complete loss of activity. 1 Publication1
Natural variantiVAR_068596457P → H in GSD2. 1 Publication1
Natural variantiVAR_029040457P → L in GSD2; juvenile form. 1 Publication1
Natural variantiVAR_018090459Missing in GSD2; infantile form; severe. 1 Publication1
Natural variantiVAR_004291478G → R in GSD2; severe; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs778068209EnsemblClinVar.1
Natural variantiVAR_004292481W → R in GSD2; severe; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs772883420EnsemblClinVar.1
Natural variantiVAR_068598482P → R in GSD2. 1 Publication1
Natural variantiVAR_068599483G → V in GSD2. 1 Publication1
Natural variantiVAR_068600486A → P in GSD2. 1 Publication1
Natural variantiVAR_029037489D → N in GSD2; severe. 2 PublicationsCorresponds to variant dbSNP:rs398123169EnsemblClinVar.1
Natural variantiVAR_004293519M → T in GSD2; severe; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs786204720EnsemblClinVar.1
Natural variantiVAR_004294519M → V in GSD2. 1 Publication1
Natural variantiVAR_004295521E → K in GSD2; severe. 1 PublicationCorresponds to variant dbSNP:rs121907937EnsemblClinVar.1
Natural variantiVAR_068601521E → Q in GSD2. 1 Publication1
Natural variantiVAR_046471522P → A in GSD2; no residual enzymatic activity. 2 PublicationsCorresponds to variant dbSNP:rs1057517146Ensembl.1
Natural variantiVAR_068602522P → S in GSD2. 1 PublicationCorresponds to variant dbSNP:rs892129065Ensembl.1
Natural variantiVAR_068603523S → Y in GSD2. 1 Publication1
Natural variantiVAR_068604525F → Y in GSD2. 1 Publication1
Natural variantiVAR_004296529S → V in GSD2; mild; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant dbSNP:rs121907941EnsemblClinVar.1
Natural variantiVAR_004297545P → L in GSD2; mild; partial loss of activity. 4 PublicationsCorresponds to variant dbSNP:rs121907942EnsemblClinVar.1
Natural variantiVAR_018091549G → R in GSD2; juvenile form; mild; partial loss of activity. 2 Publications1
Natural variantiVAR_018092552L → P in GSD2; infantile/juvenile form; severe; loss of activity. 3 PublicationsCorresponds to variant dbSNP:rs779556619EnsemblClinVar.1
Natural variantiVAR_068605557I → F in GSD2. 1 Publication1
Natural variantiVAR_068606558C → S in GSD2. 2 Publications1
Natural variantiVAR_004298566S → P in GSD2; infantile form. 1 Publication1
Natural variantiVAR_070018568H → L in GSD2. 1 Publication1
Natural variantiVAR_068607570N → K in GSD2. 1 Publication1
Natural variantiVAR_068608572H → Q in GSD2. 1 PublicationCorresponds to variant dbSNP:rs772962666Ensembl.1
Natural variantiVAR_068609575Y → C in GSD2. 1 Publication1
Natural variantiVAR_018093575Y → S in GSD2; juvenile form. 1 Publication1
Natural variantiVAR_068610576G → R in GSD2. 1 Publication1
Natural variantiVAR_018094579E → K in GSD2; infantile form; severe; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs991082382EnsemblClinVar.1
Natural variantiVAR_046472585R → M in GSD2. 1 Publication1
Natural variantiVAR_068612594R → H in GSD2. 1 PublicationCorresponds to variant dbSNP:rs775450536EnsemblClinVar.1
Natural variantiVAR_068613594R → P in GSD2. 2 PublicationsCorresponds to variant dbSNP:rs775450536EnsemblClinVar.1
Natural variantiVAR_046473599S → Y in GSD2; no residual enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs753505203EnsemblClinVar.1
Natural variantiVAR_018095600R → C in GSD2; juvenile form; loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs764670084Ensembl.1
Natural variantiVAR_008689600R → H in GSD2; infantile form. Corresponds to variant dbSNP:rs377544304EnsemblClinVar.1
Natural variantiVAR_068614601S → L in GSD2. 2 PublicationsCorresponds to variant dbSNP:rs374470794EnsemblClinVar.1
Natural variantiVAR_068615602T → A in GSD2. 1 PublicationCorresponds to variant dbSNP:rs781484283Ensembl.1
Natural variantiVAR_046474607 – 612Missing in GSD2. 1 Publication6
Natural variantiVAR_018096607G → D in GSD2; infantile form; severe; loss of activity. 1 Publication1
Natural variantiVAR_068616610A → V in GSD2. 1 Publication1
Natural variantiVAR_029038612H → Q in GSD2. 1 Publication1
Natural variantiVAR_068618612H → Y in GSD2. 1 Publication1
Natural variantiVAR_068619614T → K in GSD2. 1 PublicationCorresponds to variant dbSNP:rs369531647EnsemblClinVar.1
Natural variantiVAR_008690615G → R in GSD2; infantile/adult form. 1 PublicationCorresponds to variant dbSNP:rs549029029EnsemblClinVar.1
Natural variantiVAR_046475619S → R in GSD2; loss of function of the mutant enzyme. 1 Publication1
Natural variantiVAR_068620627S → P in GSD2. 1 Publication1
Natural variantiVAR_068622635N → K in GSD2. 1 PublicationCorresponds to variant dbSNP:rs1414146587Ensembl.1
Natural variantiVAR_068623638G → V in GSD2. 1 Publication1
Natural variantiVAR_046476638G → W in GSD2. 2 PublicationsCorresponds to variant dbSNP:rs757617999EnsemblClinVar.1
Natural variantiVAR_074278641L → V in GSD2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1420043899Ensembl.1
Natural variantiVAR_004301643G → R in GSD2; infantile form. 5 PublicationsCorresponds to variant dbSNP:rs28937909EnsemblClinVar.1
Natural variantiVAR_004302645D → E in GSD2; infantile form; most common mutation; deficient in phosphorylation and in proteolytic processing. 3 PublicationsCorresponds to variant dbSNP:rs28940868EnsemblClinVar.1
Natural variantiVAR_004303645D → H in GSD2; almost complete loss of activity. 1 PublicationCorresponds to variant dbSNP:rs368438393EnsemblClinVar.1
Natural variantiVAR_004304645D → N in GSD2. 3 PublicationsCorresponds to variant dbSNP:rs368438393EnsemblClinVar.1
Natural variantiVAR_004305647C → W in GSD2. 3 PublicationsCorresponds to variant dbSNP:rs776948121EnsemblClinVar.1
Natural variantiVAR_068624648G → D in GSD2. 1 PublicationCorresponds to variant dbSNP:rs1448515860Ensembl.1
Natural variantiVAR_004306648G → S in GSD2. 1 PublicationCorresponds to variant dbSNP:rs536906561EnsemblClinVar.1
Natural variantiVAR_046477660R → H in GSD2; loss of function of the mutant enzyme. 1 PublicationCorresponds to variant dbSNP:rs374143224EnsemblClinVar.1
Natural variantiVAR_004307672R → Q in GSD2. 1 PublicationCorresponds to variant dbSNP:rs778418246EnsemblClinVar.1
Natural variantiVAR_046478672R → T in GSD2. 1 Publication1
Natural variantiVAR_004308672R → W in GSD2. 2 PublicationsCorresponds to variant dbSNP:rs757111744EnsemblClinVar.1
Natural variantiVAR_008692675Missing in GSD2; infantile form. 1
Natural variantiVAR_046479702R → C in GSD2; no enzymatic activity; shows enzyme localization primarily in the ER-Golgi compartment suggesting that mutation could affect the normal processing and stability of the enzyme. 1 PublicationCorresponds to variant dbSNP:rs786204645EnsemblClinVar.1
Natural variantiVAR_068626702R → L in GSD2. 1 PublicationCorresponds to variant dbSNP:rs398123172EnsemblClinVar.1
Natural variantiVAR_074279705L → P in GSD2; unknown pathological significance. 1 Publication1
Natural variantiVAR_004310725R → W in GSD2; adult form. 1 PublicationCorresponds to variant dbSNP:rs121907938EnsemblClinVar.1
Natural variantiVAR_068629737T → N in GSD2. 1 PublicationCorresponds to variant dbSNP:rs1381005435Ensembl.1
Natural variantiVAR_068630743Q → K in GSD2. 1 Publication1
Natural variantiVAR_068631746W → G in GSD2. 1 PublicationCorresponds to variant dbSNP:rs1479740763Ensembl.1
Natural variantiVAR_068632746W → S in GSD2. 1 PublicationCorresponds to variant dbSNP:rs752921215EnsemblClinVar.1
Natural variantiVAR_070019766Y → C in GSD2. 1 PublicationCorresponds to variant dbSNP:rs144016984EnsemblClinVar.1
Natural variantiVAR_004312768P → R in GSD2; infantile form. 1 Publication1
Natural variantiVAR_068633819R → P in GSD2. 1 Publication1
Natural variantiVAR_018097880A → D in GSD2; infantile form; severe; loss of activity. 1 Publication1
Natural variantiVAR_029039901L → Q in GSD2; infantile form; severe. 1 Publication1
Natural variantiVAR_004315903Missing in GSD2; infantile form; severe; loss of activity. 1 Publication1
Natural variantiVAR_070020913P → R in GSD2. 1 PublicationCorresponds to variant dbSNP:rs1480070037Ensembl.1
Natural variantiVAR_068634916V → F in GSD2. 1 Publication1
Natural variantiVAR_004316925N → NGVPVSN in GSD2. 1 Publication1
Natural variantiVAR_068635935L → P in GSD2. 1 Publication1
Natural variantiVAR_004318949V → D in GSD2. Corresponds to variant dbSNP:rs1245412108Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi516W → R: Loss of activity. 1 Publication1
Mutagenesisi518D → G, N or E: Loss of activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Glycogen storage disease

Organism-specific databases

DisGeNET

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DisGeNETi
2548

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
GAA

MalaCards human disease database

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MalaCardsi
GAA
MIMi232300 phenotype

Open Targets

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OpenTargetsi
ENSG00000171298

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
308552 Glycogen storage disease due to acid maltase deficiency, infantile onset
420429 Glycogen storage disease due to acid maltase deficiency, late-onset

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA28476

Protein family/group databases

Allergome; a platform for allergen knowledge

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Allergomei
9614 Hom s Glucosidase

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL2608

Drug and drug target database

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DrugBanki
DB00284 Acarbose
DB05200 AT2220
DB00491 Miglitol

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
2611

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
GAA

Domain mapping of disease mutations (DMDM)

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DMDMi
317373572

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 27Sequence analysisAdd BLAST27
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000001856528 – 691 PublicationAdd BLAST42
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001856670 – 952Lysosomal alpha-glucosidaseAdd BLAST883
ChainiPRO_0000018567123 – 95276 kDa lysosomal alpha-glucosidaseAdd BLAST830
ChainiPRO_0000018568204 – 95270 kDa lysosomal alpha-glucosidaseAdd BLAST749

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi82 ↔ 109PROSITE-ProRule annotationCombined sources2 Publications
Disulfide bondi92 ↔ 108PROSITE-ProRule annotationCombined sources2 Publications
Disulfide bondi103 ↔ 127PROSITE-ProRule annotationCombined sources2 Publications
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi140N-linked (GlcNAc...) asparagineCombined sources4 Publications1
Glycosylationi233N-linked (GlcNAc...) asparagineCombined sources3 Publications1
Glycosylationi390N-linked (GlcNAc...) asparagineCombined sources4 Publications1
Glycosylationi470N-linked (GlcNAc...) asparagineCombined sources5 Publications1
Disulfide bondi533 ↔ 558Combined sources2 Publications
Disulfide bondi647 ↔ 658Combined sources2 Publications
Glycosylationi652N-linked (GlcNAc...) asparagineCombined sources3 Publications1
Glycosylationi882N-linked (GlcNAc...) asparagineCombined sources4 Publications1
Glycosylationi925N-linked (GlcNAc...) asparagine2 Publications1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

The different forms of acid glucosidase are obtained by proteolytic processing.1 Publication
Phosphorylation of mannose residues ensures efficient transport of the enzyme to the lysosomes via the mannose 6-phosphate receptor.

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P10253

MaxQB - The MaxQuant DataBase

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MaxQBi
P10253

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P10253

PeptideAtlas

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PeptideAtlasi
P10253

PRoteomics IDEntifications database

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PRIDEi
P10253

ProteomicsDB human proteome resource

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ProteomicsDBi
52587

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
723

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P10253

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P10253

UniCarbKB; an annotated and curated database of glycan structures

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UniCarbKBi
P10253

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000171298 Expressed in 207 organ(s), highest expression level in right testis

CleanEx database of gene expression profiles

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CleanExi
HS_GAA

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P10253 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P10253 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA026970
HPA029126

<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

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108823, 47 interactors

Protein interaction database and analysis system

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IntActi
P10253, 8 interactors

Molecular INTeraction database

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MINTi
P10253

STRING: functional protein association networks

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STRINGi
9606.ENSP00000305692

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P10253

<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

Secondary structure

1952
Legend: HelixTurnBeta strandPDB Structure known for this area
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