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    GAA alpha glucosidase [ Bos taurus (domestic cattle) ]

    Gene ID: 280798, updated on 10-Oct-2024

    Summary

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    Official Symbol
    GAAprovided by VGNC
    Official Full Name
    alpha glucosidaseprovided by VGNC
    Primary source
    VGNC:VGNC:29182
    See related
    BGD:BT10606; Ensembl:ENSBTAG00000016021
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Bos taurus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
    Orthologs
    human mouse all
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    Genomic context

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    See GAA in Genome Data Viewer
    Location:
    chromosome: 19
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_09 current ARS-UCD2.0 (GCF_002263795.3) 19 NC_037346.1 (52482893..52499084, complement)

    Chromosome 19 - NC_037346.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112442698 Neighboring gene eukaryotic translation initiation factor 4A3 Neighboring gene ATP synthase membrane subunit K, mitochondrial Neighboring gene coiled-coil domain containing 40 Neighboring gene TBC1 domain family member 16 Neighboring gene uncharacterized LOC101907247

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_037346.1 Chromosome 19 Reference ARS-UCD2.0 Primary Assembly

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. E7 (1057ΔTA) mutation of the acidic α-glucosidase gene causes Pompe's disease in Droughtmaster cattle. Lyons RE, et al. Aust Vet J, 2017 May. PMID 28444756
    2. The bovine alpha-glucosidase gene: coding region, genomic structure, and mutations that cause bovine generalized glycogenosis. Dennis JA, et al. Mamm Genome, 2000 Mar. PMID 10723725
    3. A whole-genome assembly of the domestic cow, Bos taurus. Zimin AV, et al. Genome Biol, 2009. PMID 19393038, Free PMC Article
    4. Manual GO annotation of predictive protein signatures: the InterPro approach to GO curation. Burge S, et al. Database (Oxford), 2012. PMID 22301074, Free PMC Article
    5. TreeGrafter: phylogenetic tree-based annotation of proteins with Gene Ontology terms and other annotations. Tang H, et al. Bioinformatics, 2019 Feb 1. PMID 30032202, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The lethal mutation 1057DeltaTA of GAA is present in the Droughtmaster breed, with pathology identical to that reported in pure Brahman animals.
      Title: E7 (1057ΔTA) mutation of the acidic α-glucosidase gene causes Pompe's disease in Droughtmaster cattle.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    General gene information

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    Homology

    Gene Ontology Provided by RefSeq

    Function Evidence Code Pubs
    enables alpha-1,4-glucosidase activity IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in glycogen catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in lysosome organization IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    lysosomal alpha-glucosidase
    Names
    acid maltase
    glucosidase alpha, acid
    glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)
    NP_776338.1
    XP_005221193.1
    XP_010814808.1
    XP_024835302.1
    XP_059733678.1
    XP_059733679.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_173913.2 → NP_776338.1  lysosomal alpha-glucosidase precursor

      See identical proteins and their annotated locations for NP_776338.1

      Status: PROVISIONAL

      Source sequence(s)
      AF171665
      UniProtKB/Swiss-Prot
      Q9MYM4
      UniProtKB/TrEMBL
      A0AAA9SPK2
      Conserved Domains (4) summary
      smart00018
      Location:69 → 119
      PD; P or trefoil or TFF domain
      cd14752
      Location:233 → 346
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam01055
      Location:327 → 809
      Glyco_hydro_31; Glycosyl hydrolases family 31
      pfam16863
      Location:139 → 240
      NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

    RefSeqs of Annotated Genomes: GCF_002263795.3-RS_2023_09

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

    Reference ARS-UCD2.0 Primary Assembly

    Genomic

    1. NC_037346.1 Reference ARS-UCD2.0 Primary Assembly

      Range
      52482893..52499084 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005221136.5 → XP_005221193.1  lysosomal alpha-glucosidase isoform X2

      See identical proteins and their annotated locations for XP_005221193.1

      UniProtKB/Swiss-Prot
      Q9MYM4
      UniProtKB/TrEMBL
      A0AAA9SPK2
      Related
      ENSBTAP00000021325.6, ENSBTAT00000021325.7
      Conserved Domains (4) summary
      smart00018
      Location:69 → 119
      PD; P or trefoil or TFF domain
      cd14752
      Location:233 → 346
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam01055
      Location:327 → 809
      Glyco_hydro_31; Glycosyl hydrolases family 31
      pfam16863
      Location:139 → 240
      NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

    2. XM_024979534.2 → XP_024835302.1  lysosomal alpha-glucosidase isoform X2

      UniProtKB/Swiss-Prot
      Q9MYM4
      UniProtKB/TrEMBL
      A0AAA9SPK2
      Related
      ENSBTAP00000085860.1, ENSBTAT00000097626.1
      Conserved Domains (4) summary
      smart00018
      Location:69 → 119
      PD; P or trefoil or TFF domain
      cd14752
      Location:233 → 346
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam01055
      Location:327 → 809
      Glyco_hydro_31; Glycosyl hydrolases family 31
      pfam16863
      Location:139 → 240
      NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

    3. XM_059877695.1 → XP_059733678.1  lysosomal alpha-glucosidase isoform X1

    4. XM_010816506.4 → XP_010814808.1  lysosomal alpha-glucosidase isoform X1

      See identical proteins and their annotated locations for XP_010814808.1

      UniProtKB/TrEMBL
      A0AAA9SPK2
      Conserved Domains (5) summary
      cd06602
      Location:346 → 704
      GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
      cd14752
      Location:233 → 346
      GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
      pfam00088
      Location:70 → 117
      Trefoil; Trefoil (P-type) domain
      pfam01055
      Location:327 → 809
      Glyco_hydro_31; Glycosyl hydrolases family 31
      pfam16863
      Location:139 → 240
      NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

    5. XM_059877696.1 → XP_059733679.1  lysosomal alpha-glucosidase isoform X1

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9MYM4.1 GenPept UniProtKB/Swiss-Prot:Q9MYM4

    Gene LinkOut

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