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Protein

Lysosomal alpha-glucosidase

Gene

GAA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Essential for the degradation of glygogen to glucose in lysosomes.

Catalytic activityi

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei518NucleophilePROSITE-ProRule annotation1 Publication1
Active sitei521By similarity1

GO - Molecular functioni

GO - Biological processi

  • cardiac muscle contraction Source: BHF-UCL
  • diaphragm contraction Source: BHF-UCL
  • glucose metabolic process Source: BHF-UCL
  • glycogen catabolic process Source: BHF-UCL
  • heart morphogenesis Source: Ensembl
  • locomotory behavior Source: Ensembl
  • lysosome organization Source: BHF-UCL
  • maltose metabolic process Source: BHF-UCL
  • muscle cell cellular homeostasis Source: Ensembl
  • neuromuscular process controlling balance Source: Ensembl
  • neuromuscular process controlling posture Source: Ensembl
  • regulation of the force of heart contraction Source: Ensembl
  • sucrose metabolic process Source: BHF-UCL
  • tissue development Source: Ensembl
  • vacuolar sequestering Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Glycosidase, Hydrolase

Enzyme and pathway databases

BioCyciZFISH:HS10282-MONOMER.
BRENDAi3.2.1.20. 2681.
ReactomeiR-HSA-5357572. Lysosomal glycogen catabolism.
R-HSA-6798695. Neutrophil degranulation.

Protein family/group databases

CAZyiGH31. Glycoside Hydrolase Family 31.

Names & Taxonomyi

Protein namesi
Recommended name:
Lysosomal alpha-glucosidase (EC:3.2.1.20)
Alternative name(s):
Acid maltase
Aglucosidase alfa
Cleaved into the following 2 chains:
Gene namesi
Name:GAA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:4065. GAA.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • lysosomal lumen Source: Reactome
  • lysosomal membrane Source: UniProtKB
  • lysosome Source: BHF-UCL
  • membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Lysosome, Membrane

Pathology & Biotechi

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
Natural variantiVAR_06856446S → P in GSD2. 1 PublicationCorresponds to variant rs777215354dbSNPEnsembl.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 rs398123174dbSNPEnsembl.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 rs528367092dbSNPEnsembl.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 rs370950728dbSNPEnsembl.1
Natural variantiVAR_068574224R → P in GSD2. 1 Publication1
Natural variantiVAR_068575224R → Q in GSD2. 1 PublicationCorresponds to variant rs200210219dbSNPEnsembl.1
Natural variantiVAR_029026224R → W in GSD2; infantile; mild partial loss of activity. 3 PublicationsCorresponds to variant rs757700700dbSNPEnsembl.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 rs121907944dbSNPEnsembl.1
Natural variantiVAR_068578251S → L in GSD2. 1 PublicationCorresponds to variant rs200856561dbSNPEnsembl.1
Natural variantiVAR_068579254S → L in GSD2. 1 PublicationCorresponds to variant rs577915581dbSNPEnsembl.1
Natural variantiVAR_029028262E → K in GSD2; infantile; severe. 3 PublicationsCorresponds to variant rs201896815dbSNPEnsembl.1
Natural variantiVAR_068580266P → S in GSD2. 1 Publication1
Natural variantiVAR_018080285P → R in GSD2; juvenile form; mild; partial loss of activity. 1 Publication1
Natural variantiVAR_068582285P → S in GSD2. 1 Publication1
Natural variantiVAR_068584291L → F in GSD2. 1 PublicationCorresponds to variant rs773417785dbSNPEnsembl.1
Natural variantiVAR_068585291L → P in GSD2. 2 Publications1
Natural variantiVAR_018081292Y → C in GSD2; juvenile form; mild; partial loss of activity. 1 Publication1
Natural variantiVAR_018082293G → R in GSD2; infantile form; severe; almost complete loss of activity. 3 PublicationsCorresponds to variant rs121907945dbSNPEnsembl.1
Natural variantiVAR_004288299L → R in GSD2; infantile form. 1 PublicationCorresponds to variant rs121907940dbSNPEnsembl.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 rs543300039dbSNPEnsembl.1
Natural variantiVAR_068586310V → G Found in a patient with GSD2; unknown pathological significance. 1 PublicationCorresponds to variant rs763091901dbSNPEnsembl.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 rs121907936dbSNPEnsembl.1
Natural variantiVAR_029029324P → L in GSD2. 1 PublicationCorresponds to variant rs750030887dbSNPEnsembl.1
Natural variantiVAR_029030330W → G in GSD2; infantile form; severe. 1 Publication1
Natural variantiVAR_068589335G → E in GSD2. 1 PublicationCorresponds to variant rs730880022dbSNPEnsembl.1
Natural variantiVAR_068590335G → R in GSD2. 1 PublicationCorresponds to variant rs202095215dbSNPEnsembl.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 rs766074609dbSNPEnsembl.1
Natural variantiVAR_029031361P → L in GSD2; juvenile form; severe. 3 PublicationsCorresponds to variant rs755253527dbSNPEnsembl.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 rs142752477dbSNPEnsembl.1
Natural variantiVAR_029032377G → R in GSD2; severe. Corresponds to variant rs752002666dbSNPEnsembl.1
Natural variantiVAR_068593391M → V Found in a patient with GSD2; unknown pathological significance. 2 PublicationsCorresponds to variant rs778634337dbSNPEnsembl.1
Natural variantiVAR_068594397P → L in GSD2. 1 PublicationCorresponds to variant rs776008078dbSNPEnsembl.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 rs141533320dbSNPEnsembl.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 rs560575383dbSNPEnsembl.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 rs770610356dbSNPEnsembl.1
Natural variantiVAR_074277437R → H in GSD2; unknown pathological significance. 1 PublicationCorresponds to variant rs150868652dbSNPEnsembl.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 rs778068209dbSNPEnsembl.1
Natural variantiVAR_004292481W → R in GSD2; severe; loss of activity. 2 PublicationsCorresponds to variant rs772883420dbSNPEnsembl.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 rs398123169dbSNPEnsembl.1
Natural variantiVAR_004293519M → T in GSD2; severe; loss of activity. 1 PublicationCorresponds to variant rs786204720dbSNPEnsembl.1
Natural variantiVAR_004294519M → V in GSD2. 1 Publication1
Natural variantiVAR_004295521E → K in GSD2; severe. 1 PublicationCorresponds to variant rs121907937dbSNPEnsembl.1
Natural variantiVAR_068601521E → Q in GSD2. 1 Publication1
Natural variantiVAR_046471522P → A in GSD2; no residual enzymatic activity. 2 Publications1
Natural variantiVAR_068602522P → S in GSD2. 1 Publication1
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 rs121907941dbSNPEnsembl.1
Natural variantiVAR_004297545P → L in GSD2; mild; partial loss of activity. 4 PublicationsCorresponds to variant rs121907942dbSNPEnsembl.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 rs779556619dbSNPEnsembl.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 rs772962666dbSNPEnsembl.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 Publication1
Natural variantiVAR_046472585R → M in GSD2. 1 Publication1
Natural variantiVAR_068612594R → H in GSD2. 1 PublicationCorresponds to variant rs775450536dbSNPEnsembl.1
Natural variantiVAR_068613594R → P in GSD2. 2 PublicationsCorresponds to variant rs775450536dbSNPEnsembl.1
Natural variantiVAR_046473599S → Y in GSD2; no residual enzymatic activity. 1 PublicationCorresponds to variant rs753505203dbSNPEnsembl.1
Natural variantiVAR_018095600R → C in GSD2; juvenile form; loss of activity. 2 PublicationsCorresponds to variant rs764670084dbSNPEnsembl.1
Natural variantiVAR_008689600R → H in GSD2; infantile form. Corresponds to variant rs377544304dbSNPEnsembl.1
Natural variantiVAR_068614601S → L in GSD2. 2 Publications1
Natural variantiVAR_068615602T → A in GSD2. 1 PublicationCorresponds to variant rs781484283dbSNPEnsembl.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_068617611G → D Found in a patient with GSD2; unknown pathological significance. 2 Publications1
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 rs369531647dbSNPEnsembl.1
Natural variantiVAR_008690615G → R in GSD2; infantile/adult form. 1 PublicationCorresponds to variant rs549029029dbSNPEnsembl.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 Publication1
Natural variantiVAR_068623638G → V in GSD2. 1 Publication1
Natural variantiVAR_046476638G → W in GSD2. 2 PublicationsCorresponds to variant rs757617999dbSNPEnsembl.1
Natural variantiVAR_074278641L → V in GSD2; unknown pathological significance. 1 Publication1
Natural variantiVAR_004301643G → R in GSD2; infantile form. 5 PublicationsCorresponds to variant rs28937909dbSNPEnsembl.1
Natural variantiVAR_004302645D → E in GSD2; infantile form; most common mutation; deficient in phosphorylation and in proteolytic processing. 3 PublicationsCorresponds to variant rs28940868dbSNPEnsembl.1
Natural variantiVAR_004303645D → H in GSD2; almost complete loss of activity. 1 PublicationCorresponds to variant rs368438393dbSNPEnsembl.1
Natural variantiVAR_004304645D → N in GSD2. 3 PublicationsCorresponds to variant rs368438393dbSNPEnsembl.1
Natural variantiVAR_004305647C → W in GSD2. 3 PublicationsCorresponds to variant rs776948121dbSNPEnsembl.1
Natural variantiVAR_068624648G → D in GSD2. 1 Publication1
Natural variantiVAR_004306648G → S in GSD2. 1 PublicationCorresponds to variant rs536906561dbSNPEnsembl.1
Natural variantiVAR_046477660R → H in GSD2; loss of function of the mutant enzyme. 1 PublicationCorresponds to variant rs374143224dbSNPEnsembl.1
Natural variantiVAR_004307672R → Q in GSD2. 1 PublicationCorresponds to variant rs778418246dbSNPEnsembl.1
Natural variantiVAR_046478672R → T in GSD2. 1 Publication1
Natural variantiVAR_004308672R → W in GSD2. 2 PublicationsCorresponds to variant rs757111744dbSNPEnsembl.1
Natural variantiVAR_008692675Missing in GSD2; infantile form. 1
Natural variantiVAR_068625700 – 701Missing Found in a patient with GSD2; unknown pathological significance. 1 Publication2
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 rs786204645dbSNPEnsembl.1
Natural variantiVAR_068626702R → L in GSD2. 1 PublicationCorresponds to variant rs398123172dbSNPEnsembl.1
Natural variantiVAR_074279705L → P in GSD2; unknown pathological significance. 1 Publication1
Natural variantiVAR_004310725R → W in GSD2; adult form. 1 PublicationCorresponds to variant rs28939100dbSNPEnsembl.1
Natural variantiVAR_068629737T → N in GSD2. 1 Publication1
Natural variantiVAR_068630743Q → K in GSD2. 1 Publication1
Natural variantiVAR_068631746W → G in GSD2. 1 Publication1
Natural variantiVAR_068632746W → S in GSD2. 1 PublicationCorresponds to variant rs752921215dbSNPEnsembl.1
Natural variantiVAR_070019766Y → C in GSD2. 1 PublicationCorresponds to variant rs144016984dbSNPEnsembl.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 Publication1
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. 1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

DisGeNETi2548.
MalaCardsiGAA.
MIMi232300. phenotype.
OpenTargetsiENSG00000171298.
Orphaneti308604. Glycogen storage disease due to acid maltase deficiency, adult onset.
308552. Glycogen storage disease due to acid maltase deficiency, infantile onset.
308573. Glycogen storage disease due to acid maltase deficiency, juvenile onset.
PharmGKBiPA28476.

Protein family/group databases

Allergomei9614. Hom s Glucosidase.

Chemistry databases

ChEMBLiCHEMBL2608.
DrugBankiDB00284. Acarbose.
DB00491. Miglitol.
GuidetoPHARMACOLOGYi2611.

Polymorphism and mutation databases

BioMutaiGAA.
DMDMi317373572.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 27Sequence analysisAdd BLAST27
PropeptideiPRO_000001856528 – 691 PublicationAdd BLAST42
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
Disulfide bondi82 ↔ 109PROSITE-ProRule annotation
Disulfide bondi92 ↔ 108PROSITE-ProRule annotation
Disulfide bondi103 ↔ 127PROSITE-ProRule annotation
Glycosylationi140N-linked (GlcNAc...)2 Publications1
Glycosylationi233N-linked (GlcNAc...)1 Publication1
Glycosylationi390N-linked (GlcNAc...)2 Publications1
Glycosylationi470N-linked (GlcNAc...)3 Publications1
Glycosylationi652N-linked (GlcNAc...)1 Publication1
Glycosylationi882N-linked (GlcNAc...)2 Publications1
Glycosylationi925N-linked (GlcNAc...)2 Publications1

Post-translational modificationi

The different forms of acid glucosidase are obtained by proteolytic processing.
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

EPDiP10253.
MaxQBiP10253.
PaxDbiP10253.
PeptideAtlasiP10253.
PRIDEiP10253.

PTM databases

iPTMnetiP10253.
PhosphoSitePlusiP10253.
UniCarbKBiP10253.

Expressioni

Gene expression databases

BgeeiENSG00000171298.
CleanExiHS_GAA.
ExpressionAtlasiP10253. baseline and differential.
GenevisibleiP10253. HS.

Organism-specific databases

HPAiHPA026970.
HPA029126.

Interactioni

Protein-protein interaction databases

BioGridi108823. 43 interactors.
IntActiP10253. 8 interactors.
STRINGi9606.ENSP00000305692.

Chemistry databases

BindingDBiP10253.

Structurei

3D structure databases

ProteinModelPortaliP10253.
SMRiP10253.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini80 – 131P-typePROSITE-ProRule annotationAdd BLAST52

Sequence similaritiesi

Belongs to the glycosyl hydrolase 31 family.Curated
Contains 1 P-type (trefoil) domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG1065. Eukaryota.
COG1501. LUCA.
GeneTreeiENSGT00760000119229.
HOGENOMiHOG000041175.
HOVERGENiHBG006297.
InParanoidiP10253.
KOiK12316.
OMAiSSEMGYT.
OrthoDBiEOG091G030L.
PhylomeDBiP10253.
TreeFamiTF314577.

Family and domain databases

CDDicd00111. Trefoil. 1 hit.
Gene3Di4.10.110.10. 1 hit.
InterProiIPR031727. Gal_mutarotase_N.
IPR011013. Gal_mutarotase_SF_dom.
IPR000322. Glyco_hydro_31.
IPR030458. Glyco_hydro_31_AS.
IPR030459. Glyco_hydro_31_CS.
IPR025887. Glyco_hydro_31_N_dom.
IPR017853. Glycoside_hydrolase_SF.
IPR017957. P_trefoil_CS.
IPR000519. P_trefoil_dom.
[Graphical view]
PfamiPF13802. Gal_mutarotas_2. 1 hit.
PF01055. Glyco_hydro_31. 1 hit.
PF16863. NtCtMGAM_N. 1 hit.
PF00088. Trefoil. 1 hit.
[Graphical view]
SMARTiSM00018. PD. 1 hit.
[Graphical view]
SUPFAMiSSF51445. SSF51445. 2 hits.
SSF57492. SSF57492. 1 hit.
SSF74650. SSF74650. 1 hit.
PROSITEiPS00129. GLYCOSYL_HYDROL_F31_1. 1 hit.
PS00707. GLYCOSYL_HYDROL_F31_2. 1 hit.
PS00025. P_TREFOIL_1. 1 hit.
PS51448. P_TREFOIL_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P10253-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGVRHPPCSH RLLAVCALVS LATAALLGHI LLHDFLLVPR ELSGSSPVLE
60 70 80 90 100
ETHPAHQQGA SRPGPRDAQA HPGRPRAVPT QCDVPPNSRF DCAPDKAITQ
110 120 130 140 150
EQCEARGCCY IPAKQGLQGA QMGQPWCFFP PSYPSYKLEN LSSSEMGYTA
160 170 180 190 200
TLTRTTPTFF PKDILTLRLD VMMETENRLH FTIKDPANRR YEVPLETPHV
210 220 230 240 250
HSRAPSPLYS VEFSEEPFGV IVRRQLDGRV LLNTTVAPLF FADQFLQLST
260 270 280 290 300
SLPSQYITGL AEHLSPLMLS TSWTRITLWN RDLAPTPGAN LYGSHPFYLA
310 320 330 340 350
LEDGGSAHGV FLLNSNAMDV VLQPSPALSW RSTGGILDVY IFLGPEPKSV
360 370 380 390 400
VQQYLDVVGY PFMPPYWGLG FHLCRWGYSS TAITRQVVEN MTRAHFPLDV
410 420 430 440 450
QWNDLDYMDS RRDFTFNKDG FRDFPAMVQE LHQGGRRYMM IVDPAISSSG
460 470 480 490 500
PAGSYRPYDE GLRRGVFITN ETGQPLIGKV WPGSTAFPDF TNPTALAWWE
510 520 530 540 550
DMVAEFHDQV PFDGMWIDMN EPSNFIRGSE DGCPNNELEN PPYVPGVVGG
560 570 580 590 600
TLQAATICAS SHQFLSTHYN LHNLYGLTEA IASHRALVKA RGTRPFVISR
610 620 630 640 650
STFAGHGRYA GHWTGDVWSS WEQLASSVPE ILQFNLLGVP LVGADVCGFL
660 670 680 690 700
GNTSEELCVR WTQLGAFYPF MRNHNSLLSL PQEPYSFSEP AQQAMRKALT
710 720 730 740 750
LRYALLPHLY TLFHQAHVAG ETVARPLFLE FPKDSSTWTV DHQLLWGEAL
760 770 780 790 800
LITPVLQAGK AEVTGYFPLG TWYDLQTVPV EALGSLPPPP AAPREPAIHS
810 820 830 840 850
EGQWVTLPAP LDTINVHLRA GYIIPLQGPG LTTTESRQQP MALAVALTKG
860 870 880 890 900
GEARGELFWD DGESLEVLER GAYTQVIFLA RNNTIVNELV RVTSEGAGLQ
910 920 930 940 950
LQKVTVLGVA TAPQQVLSNG VPVSNFTYSP DTKVLDICVS LLMGEQFLVS

WC
Length:952
Mass (Da):105,324
Last modified:January 11, 2011 - v4
Checksum:i6E2717BF7201F469
GO

Polymorphismi

There are three common alleles of GAA: GAA*1, GAA*2 and GAA*4. The sequence shown is that of allele GAA*1, which is the most common. Alleles GAA*2 and GAA*4 are much rarer.5 Publications

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06856446S → P in GSD2. 1 PublicationCorresponds to variant rs777215354dbSNPEnsembl.1
Natural variantiVAR_06856574R → H.1 PublicationCorresponds to variant rs764797280dbSNPEnsembl.1
Natural variantiVAR_06856689R → H.1 PublicationCorresponds to variant rs200586324dbSNPEnsembl.1
Natural variantiVAR_00428591D → N in allele GAA*2; lower affinity for glycogen and starch but not for lower-molecular weight substrates. 4 PublicationsCorresponds to variant rs1800299dbSNPEnsembl.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 rs398123174dbSNPEnsembl.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 rs528367092dbSNPEnsembl.1
Natural variantiVAR_046467191Y → C in GSD2; extremely low residual enzymatic activity. 1 Publication1
Natural variantiVAR_004286199H → R.5 PublicationsCorresponds to variant rs1042393dbSNPEnsembl.1
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 rs370950728dbSNPEnsembl.1
Natural variantiVAR_068572220V → L.1 PublicationCorresponds to variant rs530478036dbSNPEnsembl.1
Natural variantiVAR_068573222V → M.1 Publication