MGI:Gaa

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Annotations

Qualifier	GO ID	GO term name	Reference	Evidence Code	with/from	Aspect	Notes
	GO:0002026	regulation of the force of heart contraction	MGI:MGI:2136118 PMID:11328962^[1]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2179961	P	From MGI
	GO:0002086	diaphragm contraction	MGI:MGI:3618942 PMID:15169761^[2]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2148550	P	From MGI
	GO:0002086	diaphragm contraction	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:P10253	P	From MGI
	GO:0003007	heart morphogenesis	MGI:MGI:1195358 PMID:9384603^[3]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2179961	P	From MGI
	GO:0003824	catalytic activity	MGI:MGI:2152098	IEA: Inferred from Electronic Annotation	InterPro:IPR011013	F	From MGI
	GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	MGI:MGI:2152098	IEA: Inferred from Electronic Annotation	InterPro:IPR000322	F	From MGI
	GO:0004558	alpha-glucosidase activity	MGI:MGI:1195358 PMID:9384603^[3]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2179961	F	From MGI
	GO:0004558	alpha-glucosidase activity	MGI:MGI:1275872 PMID:9668092^[4]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2148550	F	From MGI
	GO:0004558	alpha-glucosidase activity	MGI:MGI:2136118 PMID:11328962^[1]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2179961	F	From MGI
	GO:0004558	alpha-glucosidase activity	MGI:MGI:2151980 PMID:11590121^[5]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2148550	F	From MGI
	GO:0004558	alpha-glucosidase activity	MGI:MGI:2157196 PMID:11785984^[6]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2148550	F	From MGI
	GO:0004558	alpha-glucosidase activity	MGI:MGI:3618942 PMID:15169761^[2]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2148550	F	From MGI
	GO:0004558	alpha-glucosidase activity	MGI:MGI:4417868	ISO: Inferred from Sequence Orthology	NCBI:NP_954549	F	From MGI
	GO:0004558	alpha-glucosidase activity	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:P10253	F	From MGI
	GO:0004558	alpha-glucosidase activity	MGI:MGI:55148 PMID:7323947^[7]	IDA: Inferred from Direct Assay		F	From MGI
	GO:0005625	soluble fraction	MGI:MGI:4417868	ISO: Inferred from Sequence Orthology	NCBI:NP_954549	C	From MGI
	GO:0005764	lysosome	MGI:MGI:2157196 PMID:11785984^[6]	TAS: Traceable Author Statement		C	From MGI
	GO:0005764	lysosome	MGI:MGI:3706473 PMID:15207257^[8]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2179961	C	From MGI
	GO:0005764	lysosome	MGI:MGI:4417868	ISO: Inferred from Sequence Orthology	NCBI:NP_954549	C	From MGI
	GO:0005764	lysosome	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:P10253	C	From MGI
	GO:0005975	carbohydrate metabolic process	MGI:MGI:2152098	IEA: Inferred from Electronic Annotation	InterPro:IPR011013 InterPro:IPR000322	P	From MGI
	GO:0005977	glycogen metabolic process	MGI:MGI:1195358 PMID:9384603^[3]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2179961	P	From MGI
	GO:0005977	glycogen metabolic process	MGI:MGI:1275872 PMID:9668092^[4]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2148550	P	From MGI
	GO:0005977	glycogen metabolic process	MGI:MGI:1346721 PMID:10547605^[9]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2179961	P	From MGI
	GO:0005977	glycogen metabolic process	MGI:MGI:2151980 PMID:11590121^[5]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2148550	P	From MGI
	GO:0005977	glycogen metabolic process	MGI:MGI:3618942 PMID:15169761^[2]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2148550	P	From MGI
	GO:0005977	glycogen metabolic process	MGI:MGI:3664400 PMID:12115977^[10]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2179961	P	From MGI
	GO:0005977	glycogen metabolic process	MGI:MGI:3706473 PMID:15207257^[8]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2179961	P	From MGI
	GO:0005980	glycogen catabolic process	MGI:MGI:2136118 PMID:11328962^[1]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2179961	P	From MGI
	GO:0005980	glycogen catabolic process	MGI:MGI:2157196 PMID:11785984^[6]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2148550	P	From MGI
	GO:0005980	glycogen catabolic process	MGI:MGI:2179452 PMID:10838256^[11]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2179960 MGI:MGI:2179955	P	From MGI
	GO:0005980	glycogen catabolic process	MGI:MGI:4417868	ISO: Inferred from Sequence Orthology	NCBI:NP_954549	P	From MGI
	GO:0005980	glycogen catabolic process	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:P10253	P	From MGI
	GO:0006941	striated muscle contraction	MGI:MGI:3614245 PMID:15674828^[12]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2179961	P	From MGI
	GO:0006941	striated muscle contraction	MGI:MGI:3664400 PMID:12115977^[10]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2179961	P	From MGI
	GO:0007040	lysosome organization	MGI:MGI:1195358 PMID:9384603^[3]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2179961	P	From MGI
	GO:0007040	lysosome organization	MGI:MGI:1275872 PMID:9668092^[4]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2148550	P	From MGI
	GO:0007040	lysosome organization	MGI:MGI:1346721 PMID:10547605^[9]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2179961	P	From MGI
	GO:0007040	lysosome organization	MGI:MGI:2136118 PMID:11328962^[1]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2179961	P	From MGI
	GO:0007040	lysosome organization	MGI:MGI:3618942 PMID:15169761^[2]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2148550	P	From MGI
	GO:0007040	lysosome organization	MGI:MGI:3664400 PMID:12115977^[10]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2179961	P	From MGI
	GO:0007040	lysosome organization	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:P10253	P	From MGI
	GO:0007517	muscle organ development	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:P10253	P	From MGI
	GO:0007626	locomotory behavior	MGI:MGI:1275872 PMID:9668092^[4]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2148550	P	From MGI
	GO:0007626	locomotory behavior	MGI:MGI:1346721 PMID:10547605^[9]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2179961	P	From MGI
	GO:0007626	locomotory behavior	MGI:MGI:2179452 PMID:10838256^[11]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2148550	P	From MGI
	GO:0009888	tissue development	MGI:MGI:1346721 PMID:10547605^[9]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2179961	P	From MGI
	GO:0016020	membrane	MGI:MGI:1354194	IEA: Inferred from Electronic Annotation	UniProtKB-KW:KW-0472	C	From MGI
	GO:0016787	hydrolase activity	MGI:MGI:1354194	IEA: Inferred from Electronic Annotation	UniProtKB-KW:KW-0378	F	From MGI
	GO:0016798	hydrolase activity, acting on glycosyl bonds	MGI:MGI:1354194	IEA: Inferred from Electronic Annotation	UniProtKB-KW:KW-0326	F	From MGI
	GO:0030246	carbohydrate binding	MGI:MGI:4417868	ISO: Inferred from Sequence Orthology	NCBI:NP_954549	F	From MGI
	GO:0032450	maltose alpha-glucosidase activity	MGI:MGI:2152096	IEA: Inferred from Electronic Annotation	EC:3.2.1.20	F	From MGI
	GO:0043181	vacuolar sequestering	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:P10253	P	From MGI
	GO:0043587	tongue morphogenesis	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:P10253	P	From MGI
	GO:0046716	muscle cell homeostasis	MGI:MGI:1275872 PMID:9668092^[4]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2148550	P	From MGI
	GO:0046716	muscle cell homeostasis	MGI:MGI:1346721 PMID:10547605^[9]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2179961	P	From MGI
	GO:0046716	muscle cell homeostasis	MGI:MGI:2179452 PMID:10838256^[11]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2148550	P	From MGI
	GO:0046716	muscle cell homeostasis	MGI:MGI:3614245 PMID:15674828^[12]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2179961	P	From MGI
	GO:0046716	muscle cell homeostasis	MGI:MGI:3664400 PMID:12115977^[10]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2179961	P	From MGI
	GO:0050884	neuromuscular process controlling posture	MGI:MGI:1346721 PMID:10547605^[9]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2179961	P	From MGI
	GO:0050885	neuromuscular process controlling balance	MGI:MGI:2179452 PMID:10838256^[11]	IMP: Inferred from Mutant Phenotype	MGI:MGI:2148550	P	From MGI
	GO:0055010	ventricular cardiac muscle tissue morphogenesis	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:P10253	P	From MGI
	GO:0060048	cardiac muscle contraction	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:P10253	P	From MGI
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 ^1.2 ^1.3 Kamphoven JH et al. (2001) Cardiac remodeling and contractile function in acid alpha-glucosidase knockout mice. Physiol Genomics 5: 171-9 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 ^2.3 Rucker M et al. (2004) Rescue of enzyme deficiency in embryonic diaphragm in a mouse model of metabolic myopathy: Pompe disease. Development 131: 3007-19 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 ^3.3 Bijvoet AG et al. (1998) Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease. Hum Mol Genet 7: 53-62 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 ^4.3 ^4.4 Raben N et al. (1998) 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. J Biol Chem 273: 19086-92 PubMed GONUTS page
↑ ^5.0 ^5.1 Raben N et al. (2001) Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy. Hum Mol Genet 10: 2039-47 PubMed GONUTS page
↑ ^6.0 ^6.1 ^6.2 Schliselfeld LH & Danon MJ (2002) Inverse relationship of skeletal muscle glycogen from wild-type and genetically modified mice to their phosphorylase a activity. Biochem Biophys Res Commun 290: 874-7 PubMed GONUTS page
↑ Stallings RL & Siciliano MJ (1981) Confirmational, provisional, and/or regional assignment of 15 enzyme loci onto Chinese hamster autosomes 1, 2, and 7. Somatic Cell Genet 7: 683-98 PubMed GONUTS page
↑ ^8.0 ^8.1 Kamphoven JH et al. (2004) Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse. Neurobiol Dis 16: 14-20 PubMed GONUTS page
↑ ^9.0 ^9.1 ^9.2 ^9.3 ^9.4 ^9.5 Bijvoet AG et al. (1999) Pathological features of glycogen storage disease type II highlighted in the knockout mouse model. J Pathol 189: 416-24 PubMed GONUTS page
↑ ^10.0 ^10.1 ^10.2 ^10.3 Hesselink RP et al. (2002) Impaired performance of skeletal muscle in alpha-glucosidase knockout mice. Muscle Nerve 25: 873-83 PubMed GONUTS page
↑ ^11.0 ^11.1 ^11.2 ^11.3 Raben N et al. (2000) Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase gene. Neuromuscul Disord 10: 283-91 PubMed GONUTS page
↑ ^12.0 ^12.1 Hesselink RP et al. (2005) Age-related decline in muscle strength and power output in acid 1-4 alpha-glucosidase knockout mice. Muscle Nerve 31: 374-81 PubMed GONUTS page

[PMID:11328962-0] 1.0 ^1.1 ^1.2 ^1.3 Kamphoven JH et al. (2001) Cardiac remodeling and contractile function in acid alpha-glucosidase knockout mice. Physiol Genomics 5: 171-9 PubMed GONUTS page

[PMID:15169761-1] 2.0 ^2.1 ^2.2 ^2.3 Rucker M et al. (2004) Rescue of enzyme deficiency in embryonic diaphragm in a mouse model of metabolic myopathy: Pompe disease. Development 131: 3007-19 PubMed GONUTS page

[PMID:9384603-2] 3.0 ^3.1 ^3.2 ^3.3 Bijvoet AG et al. (1998) Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease. Hum Mol Genet 7: 53-62 PubMed GONUTS page

[PMID:9668092-3] 4.0 ^4.1 ^4.2 ^4.3 ^4.4 Raben N et al. (1998) 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. J Biol Chem 273: 19086-92 PubMed GONUTS page

[PMID:11590121-4] 5.0 ^5.1 Raben N et al. (2001) Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy. Hum Mol Genet 10: 2039-47 PubMed GONUTS page

[PMID:11785984-5] 6.0 ^6.1 ^6.2 Schliselfeld LH & Danon MJ (2002) Inverse relationship of skeletal muscle glycogen from wild-type and genetically modified mice to their phosphorylase a activity. Biochem Biophys Res Commun 290: 874-7 PubMed GONUTS page

[PMID:7323947-6] Stallings RL & Siciliano MJ (1981) Confirmational, provisional, and/or regional assignment of 15 enzyme loci onto Chinese hamster autosomes 1, 2, and 7. Somatic Cell Genet 7: 683-98 PubMed GONUTS page

[PMID:15207257-7] 8.0 ^8.1 Kamphoven JH et al. (2004) Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse. Neurobiol Dis 16: 14-20 PubMed GONUTS page

[PMID:10547605-8] 9.0 ^9.1 ^9.2 ^9.3 ^9.4 ^9.5 Bijvoet AG et al. (1999) Pathological features of glycogen storage disease type II highlighted in the knockout mouse model. J Pathol 189: 416-24 PubMed GONUTS page

[PMID:12115977-9] 10.0 ^10.1 ^10.2 ^10.3 Hesselink RP et al. (2002) Impaired performance of skeletal muscle in alpha-glucosidase knockout mice. Muscle Nerve 25: 873-83 PubMed GONUTS page

[PMID:10838256-10] 11.0 ^11.1 ^11.2 ^11.3 Raben N et al. (2000) Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase gene. Neuromuscul Disord 10: 283-91 PubMed GONUTS page

[PMID:15674828-11] 12.0 ^12.1 Hesselink RP et al. (2005) Age-related decline in muscle strength and power output in acid 1-4 alpha-glucosidase knockout mice. Muscle Nerve 31: 374-81 PubMed GONUTS page

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Species (Taxon ID)	Mus musculus (house mouse) (taxon:10090)
Gene Name(s)	Gaa
Protein Name(s)	glucosidase, alpha, acid,
External Links
MGI	MGI:95609

MGI:Gaa

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