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

    Gene ID: 2548, updated on 12-Mar-2017
    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]
    Orthologs
    Location:
    17q25.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 EXP
    Inferred from Experiment
    more info
    PubMed 
    alpha-1,4-glucosidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
     
    maltose alpha-glucosidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    oligo-1,6-glucosidase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ficolin-1-rich granule membrane TAS
    Traceable Author Statement
    more info
     
    lysosomal lumen TAS
    Traceable Author Statement
    more info
     
    lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    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

    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, OTTHUMP00000256906, ENST00000302262, OTTHUMT00000437441
      Conserved Domains (5) summary
      cd06602
      Location:359717
      GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
      cd14752
      Location:246359
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam00088
      Location:82130
      Trefoil; Trefoil (P-type) domain
      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, OTTHUMP00000256905, ENST00000390015, OTTHUMT00000437439
      Conserved Domains (5) summary
      cd06602
      Location:359717
      GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
      cd14752
      Location:246359
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam00088
      Location:82130
      Trefoil; Trefoil (P-type) domain
      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 (5) summary
      cd06602
      Location:359717
      GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
      cd14752
      Location:246359
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam00088
      Location:82130
      Trefoil; Trefoil (P-type) domain
      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

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 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 (5) summary
      cd06602
      Location:359717
      GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
      cd14752
      Location:246359
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam00088
      Location:82130
      Trefoil; Trefoil (P-type) domain
      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 (5) summary
      cd06602
      Location:359717
      GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
      cd14752
      Location:246359
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam00088
      Location:82130
      Trefoil; Trefoil (P-type) domain
      pfam01055
      Location:340824
      Glyco_hydro_31; Glycosyl hydrolases family 31
      pfam16863
      Location:159253
      NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      78161652..78180008
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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