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    GAA alpha glucosidase [ Homo sapiens (human) ]

    Gene ID: 2548, updated on 8-Jul-2021

    Summary

    Official Symbol
    GAAprovided by HGNC
    Official Full Name
    alpha glucosidaseprovided by HGNC
    Primary source
    HGNC:HGNC:4065
    See related
    Ensembl:ENSG00000171298 MIM:606800
    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
    NEW
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    Genomic context

    See GAA in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (80101535..80119881)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (78075380..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

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-1,4-glucosidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables alpha-1,4-glucosidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables alpha-glucosidase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables alpha-glucosidase activity TAS
    Traceable Author Statement
    more info
     
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables hydrolase activity, hydrolyzing O-glycosyl compounds IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables maltose alpha-glucosidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in cardiac muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in diaphragm contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glucose metabolic process IC
    Inferred by Curator
    more info
    PubMed 
    involved_in glycogen catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in glycogen catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in glycogen catabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in heart morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lysosome organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in lysosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in maltose metabolic process IC
    Inferred by Curator
    more info
    PubMed 
    involved_in muscle cell cellular homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuromuscular process controlling balance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuromuscular process controlling posture IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of the force of heart contraction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sucrose metabolic process IC
    Inferred by Curator
    more info
    PubMed 
    involved_in tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vacuolar sequestering IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    lysosomal alpha-glucosidase
    Names
    acid maltase
    aglucosidase alfa
    glucosidase alpha, acid
    NP_000143.2
    NP_001073271.1
    NP_001073272.1
    XP_005257250.1
    XP_005257251.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000152.5NP_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, ENST00000302262.8
      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_001079803.3NP_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, ENST00000390015.7
      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_001079804.3NP_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, 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_134848.2 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, HY101855
      Related
      ENST00000574376.1

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      80101535..80119881
      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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