• Gene id: 2548

Gene Summary

• Gene Symbol: GAA   Gene   UCSC   Ensembl
• Aliases: LYAG
• Gene name: glucosidase alpha, acid
• Alternate names: lysosomal alpha-glucosidase, acid maltase, aglucosidase alfa,
• Gene location: 17q25.3 (80101525: 80119881)     Exons: 20     NC_000017.11
• Gene summary(Entrez): This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. De
• OMIM: 606800

Protein Summary

• Protein general information: P10253  
  • Name: Lysosomal alpha glucosidase (EC 3.2.1.20) (Acid maltase) (Aglucosidase alfa) [Cleaved into: 76 kDa lysosomal alpha glucosidase; 70 kDa lysosomal alpha glucosidase]
  • Length: 952  
  • Mass: 105,324
• Sequence:

  MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQAHPGRP
  RAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTA
  TLTRTTPTFFPKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQ
  LDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGANLYGSHPFYLA
  LEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCR
  WGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSG
  PAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNF
  IRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISR
  STFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVRWTQLGAFYPFMRNHN
  SLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTVDHQLLWGEAL
  LITPVLQAGKAEVTGYFPLGTWYDLQTVPVEALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIP
  LQGPGLTTTESRQQPMALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQ
  LQKVTVLGVATAPQQVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC

• Structural information:
  • Protein Domains: P-type. (80-131)
  • Interpro: IPR031727  IPR011013  IPR000322  IPR030458  IPR030459   IPR025887  IPR013780  IPR017853  IPR017957  IPR000519  
  • Prosite: PS00129 PS00707 PS00025 PS51448
  • CDD: cd00111
  • PDB: 5KZW 5KZX 5NN3 5NN4 5NN5 5NN6 5NN8
  • PDBsum: 5KZW 5KZX 5NN3 5NN4 5NN5 5NN6 5NN8
  • STRING: ENSP00000305692
• Other Databases: GeneCards:  GAA  Malacards:  GAA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000023	maltose metabolic process	IC	biological process
GO:0002026	regulation of the force of heart contraction	IEA	biological process
GO:0002086	diaphragm contraction	IMP	biological process
GO:0003007	heart morphogenesis	IEA	biological process
GO:0004558	alpha-1,4-glucosidase activity	EXP	molecular function
GO:0004558	alpha-1,4-glucosidase activity	IDA	molecular function
GO:0004574	oligo-1,6-glucosidase activity	EXP	molecular function
GO:0005764	lysosome	IDA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0005980	glycogen catabolic process	IDA	biological process
GO:0005980	glycogen catabolic process	TAS	biological process
GO:0005985	sucrose metabolic process	IC	biological process
GO:0006006	glucose metabolic process	IC	biological process
GO:0007040	lysosome organization	IMP	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0009888	tissue development	IEA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0032450	maltose alpha-glucosidase activity	IEA	molecular function
GO:0043181	vacuolar sequestering	IMP	biological process
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0046716	muscle cell cellular homeostasis	IEA	biological process
GO:0050884	neuromuscular process controlling posture	IEA	biological process
GO:0050885	neuromuscular process controlling balance	IEA	biological process
GO:0060048	cardiac muscle contraction	IMP	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0000023	maltose metabolic process	IC	biological process
GO:0002026	regulation of the force of heart contraction	IEA	biological process
GO:0002086	diaphragm contraction	IEA	biological process
GO:0002086	diaphragm contraction	IMP	biological process
GO:0003007	heart morphogenesis	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	IEA	molecular function
GO:0004558	alpha-1,4-glucosidase activity	IEA	molecular function
GO:0004558	alpha-1,4-glucosidase activity	IEA	molecular function
GO:0004558	alpha-1,4-glucosidase activity	EXP	molecular function
GO:0004558	alpha-1,4-glucosidase activity	IDA	molecular function
GO:0004574	oligo-1,6-glucosidase activity	EXP	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0005977	glycogen metabolic process	IEA	biological process
GO:0005980	glycogen catabolic process	IEA	biological process
GO:0005980	glycogen catabolic process	IDA	biological process
GO:0005980	glycogen catabolic process	TAS	biological process
GO:0005985	sucrose metabolic process	IC	biological process
GO:0006006	glucose metabolic process	IC	biological process
GO:0006941	striated muscle contraction	IEA	biological process
GO:0007040	lysosome organization	IEA	biological process
GO:0007040	lysosome organization	IMP	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0009888	tissue development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0032450	maltose alpha-glucosidase activity	IEA	molecular function
GO:0043181	vacuolar sequestering	IMP	biological process
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0046716	muscle cell cellular homeostasis	IEA	biological process
GO:0050884	neuromuscular process controlling posture	IEA	biological process
GO:0050885	neuromuscular process controlling balance	IEA	biological process
GO:0060048	cardiac muscle contraction	IMP	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0000023	maltose metabolic process	IC	biological process
GO:0002086	diaphragm contraction	IMP	biological process
GO:0004558	alpha-1,4-glucosidase activity	EXP	molecular function
GO:0004558	alpha-1,4-glucosidase activity	IDA	molecular function
GO:0004574	oligo-1,6-glucosidase activity	EXP	molecular function
GO:0005764	lysosome	IDA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0005980	glycogen catabolic process	IDA	biological process
GO:0005980	glycogen catabolic process	TAS	biological process
GO:0005985	sucrose metabolic process	IC	biological process
GO:0006006	glucose metabolic process	IC	biological process
GO:0007040	lysosome organization	IMP	biological process
GO:0016020	membrane	IDA	cellular component
GO:0043181	vacuolar sequestering	IMP	biological process
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0060048	cardiac muscle contraction	IMP	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00010	Glycolysis / Gluconeogenesis
hsa00010	Glycolysis / Gluconeogenesis
hsa01040	Biosynthesis of unsaturated fatty acids
hsa04142	Lysosome

Diseases

Associated diseases	References
Glycogen storage disease	GAD: 15313146
Azoospermia	MIK: 1530367
Oligoasthenozoospermia	MIK: 17212807
Male subfertility	MIK: 7032434
Spermatogenesis defects	MIK: 8579477
Progressive motility	MIK: 11744971
Male factor infertility	MIK: 9572418
Non obstructive azoospermia	MIK: 8579477
Fertilizing defects	INFBASE: 11744971
Cryptorchidism	MIK: 28606200
Male subfertility	MIK: 7032434
Oligoasthenozoospermia	MIK: 17212807
Progressive motility	MIK: 11744971
Fertilization capacity	MIK: 11744971
Spermatogenesis arrest (SA)	MIK: 8579477
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
7032434	Male subfertility				Male infertility	alpha 1-4 glucosidase
11744971	Progressive motility, Fertilization capacity			85 healthy male patients divided into 2 main groups as proven-fertility group and primary infertility group	Male infertility	a-glucosidase
17212807	Oligoasthenozoospermic with and without varicocele			80 (20 fertile normozoospermic men, 30 oligoasthenozoospermia with varicocele, 30 oligoasthenozoospermia without varicocele)	Male infertility	alpha-1 4-Glucosidase
8579477	spermatogenesis arrest (SA)			48 (15 vasectomized males, 7 azoospermics with OBS, 11 azoospermics with Spermatogenesis arrest (SA), 15 fertile males)	Male infertility	alpha-glucosidase (alpha G)
29230837	Male subfertility	Methylation patterns (cg07227024, cg05813498 and cg23081194)		136 (64 proven fertile males "controls" and 72 subfertile males "cases")	Male infertility	GAA UBE2G2 FLACC1
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray