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GAA glucosidase alpha, acid [ Homo sapiens (human) ]

Gene ID: 2548, updated on 8-Jul-2018
Official Symbol
GAAprovided by HGNC
Official Full Name
glucosidase alpha, acidprovided by HGNC
Primary source
HGNC:HGNC:4065
See related
Ensembl:ENSG00000171298 MIM:606800; Vega:OTTHUMG00000177537
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LYAG
Summary
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. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Expression
Ubiquitous expression in testis (RPKM 28.0), placenta (RPKM 26.2) and 25 other tissues See more
Orthologs
See GAA in Genome Data Viewer
Location:
17q25.3
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (80101526..80119882)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (78075339..78093680)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene TBC1 domain family member 16 Neighboring gene coiled-coil domain containing 40 Neighboring gene microRNA 1268b Neighboring gene eukaryotic translation initiation factor 4A3 Neighboring gene caspase recruitment domain family member 14 Neighboring gene N-sulfoglucosamine sulfohydrolase

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Specific alterations of the N-linked carbohydrates on HIV-1 gp120 and gp41 by glucosidases and mannosidase inhibitors can enhance mannose-binding lectin (MBL)-mediated neutralization of virus by strengthening the interaction of HIV-1 with MBL PubMed
env The alpha-glucosidase inhibitor N-butyldeoxynojirimycin (NB-DNJ) inhibits HIV-1 entry and this inhibition correlates with impaired HIV-1 gp120 shedding and gp41 exposure and with changes in antibody recognition of gp120 PubMed
env Imino sugar N-butyldeoxynojirimycin (NB-DNJ) inhibits HIV envelope glycoprotein gp120 processing mediated by alpha glucosidase I PubMed
env Glucosidase inhibitors inhibit the syncytium formation between HIV-infected and CD4-expressing cells and interfere with HIV-1 infectivity, indicating processing of HIV-1 gp120 by glucosidase is important for virus replication PubMed
env HIV-1 gp120 is extremely heavily glycosylated (31-36 N-linked glycans per molecule) by glucosidase PubMed
Envelope surface glycoprotein gp160, precursor env Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus PubMed
env Inhibitors of alpha-glucosidase inhibit syncytium formation induced by the envelope glycoprotein of HIV-1 and reduce processing of the HIV-1 envelope precursor protein gp160 by glucosidase PubMed
Envelope transmembrane glycoprotein gp41 env Mannose-containing, N-linked oligosaccharide side-chains of HIV-1 gp41 are involved in the initial stage of infection by HIV-1; glycosylation inhibitors block virus-cell and cell-cell fusion and release of the virions PubMed

Go to the HIV-1, Human Interaction Database

  • Galactose metabolism, organism-specific biosystem (from KEGG)
    Galactose metabolism, organism-specific biosystem
    Galactose metabolism
  • Galactose metabolism, conserved biosystem (from KEGG)
    Galactose metabolism, conserved biosystem
    Galactose metabolism
  • Glucose metabolism, organism-specific biosystem (from REACTOME)
    Glucose metabolism, organism-specific biosystemGlucose is the major form in which dietary sugars are made available to cells of the human body. Its breakdown is a major source of energy for all cells, and is essential for the brain and red blood ...
  • Glycogen breakdown (glycogenolysis), organism-specific biosystem (from REACTOME)
    Glycogen breakdown (glycogenolysis), organism-specific biosystemCytosolic glycogen breakdown occurs via the same chemical steps in all tissues but is separately regulated via tissue specific isozymes and signaling pathways that enable distinct physiological fates...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Lysosomal glycogen catabolism, organism-specific biosystem (from REACTOME)
    Lysosomal glycogen catabolism, organism-specific biosystemWhile most glycogen is cytosolic, glycogen granules are also found in lysosomes, which they are thought to enter by autophagy. Once in lysosomes, the polysaccharide component of the granules is degra...
  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • Notch-mediated HES/HEY network, organism-specific biosystem (from Pathway Interaction Database)
    Notch-mediated HES/HEY network, organism-specific biosystem
    Notch-mediated HES/HEY network
  • Starch and sucrose metabolism, organism-specific biosystem (from KEGG)
    Starch and sucrose metabolism, organism-specific biosystem
    Starch and sucrose metabolism
  • Starch and sucrose metabolism, conserved biosystem (from KEGG)
    Starch and sucrose metabolism, conserved biosystem
    Starch and sucrose metabolism
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alpha-1,4-glucosidase activity IDA
Inferred from Direct Assay
more info
PubMed 
alpha-glucosidase activity EXP
Inferred from Experiment
more info
PubMed 
carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
maltose alpha-glucosidase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cardiac muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
diaphragm contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
glucose metabolic process IC
Inferred by Curator
more info
PubMed 
glycogen catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
glycogen catabolic process TAS
Traceable Author Statement
more info
 
heart morphogenesis IEA
Inferred from Electronic Annotation
more info
 
locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
lysosome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
maltose metabolic process IC
Inferred by Curator
more info
PubMed 
muscle cell cellular homeostasis IEA
Inferred from Electronic Annotation
more info
 
neuromuscular process controlling balance IEA
Inferred from Electronic Annotation
more info
 
neuromuscular process controlling posture IEA
Inferred from Electronic Annotation
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
regulation of the force of heart contraction IEA
Inferred from Electronic Annotation
more info
 
sucrose metabolic process IC
Inferred by Curator
more info
PubMed 
tissue development IEA
Inferred from Electronic Annotation
more info
 
vacuolar sequestering IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
azurophil granule membrane TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
ficolin-1-rich granule membrane TAS
Traceable Author Statement
more info
 
lysosomal lumen TAS
Traceable Author Statement
more info
 
lysosomal membrane HDA PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
tertiary granule membrane TAS
Traceable Author Statement
more info
 
Preferred Names
lysosomal alpha-glucosidase
Names
acid maltase
aglucosidase alfa
NP_000143.2
NP_001073271.1
NP_001073272.1
XP_005257250.1
XP_005257251.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009822.1 RefSeqGene

    Range
    5001..23325
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_673

mRNA and Protein(s)

  1. NM_000152.4NP_000143.2  lysosomal alpha-glucosidase preproprotein

    See identical proteins and their annotated locations for NP_000143.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 all encode the same protein.
    Source sequence(s)
    BC040431, BF206270, BF344248, BQ711289, HY015584, HY047261, HY101855, M34424, Y00839
    Consensus CDS
    CCDS32760.1
    UniProtKB/Swiss-Prot
    P10253
    Related
    ENSP00000305692.3, OTTHUMP00000256906, ENST00000302262.7, OTTHUMT00000437441
    Conserved Domains (4) summary
    smart00018
    Location:81132
    PD; P or trefoil or TFF domain
    cd14752
    Location:246359
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam01055
    Location:340824
    Glyco_hydro_31; Glycosyl hydrolases family 31
    pfam16863
    Location:159253
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase
  2. NM_001079803.2NP_001073271.1  lysosomal alpha-glucosidase preproprotein

    See identical proteins and their annotated locations for NP_001073271.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same protein.
    Source sequence(s)
    BC040431, BF206270, BF344248, BQ711289, HY101855, M34424
    Consensus CDS
    CCDS32760.1
    UniProtKB/Swiss-Prot
    P10253
    Related
    ENSP00000374665.3, OTTHUMP00000256905, ENST00000390015.7, OTTHUMT00000437439
    Conserved Domains (4) summary
    smart00018
    Location:81132
    PD; P or trefoil or TFF domain
    cd14752
    Location:246359
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam01055
    Location:340824
    Glyco_hydro_31; Glycosyl hydrolases family 31
    pfam16863
    Location:159253
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase
  3. NM_001079804.2NP_001073272.1  lysosomal alpha-glucosidase preproprotein

    See identical proteins and their annotated locations for NP_001073272.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same protein.
    Source sequence(s)
    BC040431, BF206270, BF344248, BQ711289, DC392486, HY101855, M34424
    Consensus CDS
    CCDS32760.1
    UniProtKB/Swiss-Prot
    P10253
    Conserved Domains (4) summary
    smart00018
    Location:81132
    PD; P or trefoil or TFF domain
    cd14752
    Location:246359
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam01055
    Location:340824
    Glyco_hydro_31; Glycosyl hydrolases family 31
    pfam16863
    Location:159253
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

RNA

  1. NR_134848.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks several exons and uses alternate splice sites compared to variant 1. This variant (4) is represented as non-coding because it lacks the entire coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    BC065262, BU630327, HY101855
    Related
    ENST00000574376.1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    80101526..80119882
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257194.4XP_005257251.1  lysosomal alpha-glucosidase isoform X1

    See identical proteins and their annotated locations for XP_005257251.1

    UniProtKB/Swiss-Prot
    P10253
    Conserved Domains (4) summary
    smart00018
    Location:81132
    PD; P or trefoil or TFF domain
    cd14752
    Location:246359
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam01055
    Location:340824
    Glyco_hydro_31; Glycosyl hydrolases family 31
    pfam16863
    Location:159253
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase
  2. XM_005257193.2XP_005257250.1  lysosomal alpha-glucosidase isoform X1

    See identical proteins and their annotated locations for XP_005257250.1

    UniProtKB/Swiss-Prot
    P10253
    Conserved Domains (4) summary
    smart00018
    Location:81132
    PD; P or trefoil or TFF domain
    cd14752
    Location:246359
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam01055
    Location:340824
    Glyco_hydro_31; Glycosyl hydrolases family 31
    pfam16863
    Location:159253
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase
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