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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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