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GAA alpha glucosidase [ Canis lupus familiaris (dog) ]

Gene ID: 483352, updated on 17-Aug-2024

Summary

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Official Symbol
GAAprovided by VGNC
Official Full Name
alpha glucosidaseprovided by VGNC
Primary source
VGNC:VGNC:41044
See related
Ensembl:ENSCAFG00845013429
Gene type
protein coding
RefSeq status
MODEL
Organism
Canis lupus familiaris (sub-species: familiaris)
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
Orthologs
human mouse all
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Genomic context

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See GAA in Genome Data Viewer
Location:
chromosome: 9
Exon count:
23
Annotation release Status Assembly Chr Location
106 current ROS_Cfam_1.0 (GCF_014441545.1) 9 NC_051813.1 (2233266..2247757, complement)
106 current Dog10K_Boxer_Tasha (GCF_000002285.5) 9 NC_006591.4 (2240939..2255430, complement)
106 current UU_Cfam_GSD_1.0 (GCF_011100685.1) 9 NC_049230.1 (2463363..2477882, complement)
106 current UMICH_Zoey_3.1 (GCF_005444595.1) 9 NC_049269.1 (2256768..2271257, complement)
106 current UNSW_CanFamBas_1.0 (GCF_013276365.1) 9 NC_049750.1 (2382084..2396575, complement)

Chromosome 9 - NC_051813.1Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 4A3 Neighboring gene dual specificity protein phosphatase 5-like Neighboring gene coiled-coil domain 40 molecular ruler complex subunit Neighboring gene TBC1 domain family member 16 Neighboring gene uncharacterized LOC119873401

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds. Seppälä EH, et al. PLoS One, 2013. PMID 23457621, Free PMC Article
  2. 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
  3. 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 genetic defect in canine Pompe disease and show that three related breeds from Scandinavia carry the same mutation
    Title: A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds.
Submit: New GeneRIF Correction

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; LOW QUALITY PROTEIN: lysosomal alpha-glucosidase
Names
glucosidase alpha, acid
glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)
XP_005624079.1
XP_022278351.1
XP_038340655.1
XP_038402302.1
XP_038402303.1
XP_038402304.1
XP_038466309.1
XP_038466310.1
XP_038466311.1
XP_038531425.1
XP_038531426.1
XP_038531427.1
XP_850649.1

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: Canis lupus familiaris Annotation Release 106 details...Open this link in a new tab

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

Reference ROS_Cfam_1.0

Genomic

  1. NC_051813.1 Reference ROS_Cfam_1.0

    Range
    2233266..2247757 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_038675499.1 → XP_038531427.1  lysosomal alpha-glucosidase isoform X2

    UniProtKB/TrEMBL
    A0A8C0K798, A0A8C0PVH5, A0A8I3S046, A0A8P0TEX6
    Related
    ENSCAFP00845018863.1, ENSCAFT00845024017.1
    Conserved Domains (4) summary
    smart00018
    Location:81 → 132
    PD; P or trefoil or TFF domain
    cd06602
    Location:359 → 717
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:246 → 359
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam16863
    Location:147 → 253
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

  2. XM_038675498.1 → XP_038531426.1  lysosomal alpha-glucosidase isoform X1

    UniProtKB/TrEMBL
    A0A8C0M7Y5
    Conserved Domains (4) summary
    smart00018
    Location:109 → 160
    PD; P or trefoil or TFF domain
    cd06602
    Location:387 → 745
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:274 → 387
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam16863
    Location:175 → 281
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

  3. XM_038675497.1 → XP_038531425.1  lysosomal alpha-glucosidase isoform X1

    UniProtKB/TrEMBL
    A0A8C0M7Y5
    Conserved Domains (4) summary
    smart00018
    Location:109 → 160
    PD; P or trefoil or TFF domain
    cd06602
    Location:387 → 745
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:274 → 387
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam16863
    Location:175 → 281
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

RNA

  1. XR_005431858.1 RNA Sequence

Alternate UMICH_Zoey_3.1

Genomic

  1. NC_049269.1 Alternate UMICH_Zoey_3.1

    Range
    2256768..2271257 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_038484727.1 → XP_038340655.1  LOW QUALITY PROTEIN: lysosomal alpha-glucosidase isoform X2

Alternate UNSW_CanFamBas_1.0

Genomic

  1. NC_049750.1 Alternate UNSW_CanFamBas_1.0

    Range
    2382084..2396575 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_038610383.1 → XP_038466311.1  lysosomal alpha-glucosidase isoform X2

    Conserved Domains (4) summary
    smart00018
    Location:81 → 132
    PD; P or trefoil or TFF domain
    cd06602
    Location:359 → 717
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:246 → 359
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam16863
    Location:147 → 253
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

  2. XM_038610382.1 → XP_038466310.1  lysosomal alpha-glucosidase isoform X1

    Conserved Domains (4) summary
    smart00018
    Location:109 → 160
    PD; P or trefoil or TFF domain
    cd06602
    Location:387 → 745
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:274 → 387
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam16863
    Location:175 → 281
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

  3. XM_038610381.1 → XP_038466309.1  lysosomal alpha-glucosidase isoform X1

    Conserved Domains (4) summary
    smart00018
    Location:109 → 160
    PD; P or trefoil or TFF domain
    cd06602
    Location:387 → 745
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:274 → 387
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam16863
    Location:175 → 281
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

RNA

  1. XR_005398563.1 RNA Sequence

Alternate UU_Cfam_GSD_1.0

Genomic

  1. NC_049230.1 Alternate UU_Cfam_GSD_1.0

    Range
    2463363..2477882 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_038546376.1 → XP_038402304.1  lysosomal alpha-glucosidase isoform X2

    UniProtKB/TrEMBL
    A0A8C0PVH5

  2. XM_038546375.1 → XP_038402303.1  lysosomal alpha-glucosidase isoform X1

    UniProtKB/TrEMBL
    A0A8C0M7Y5

  3. XM_038546374.1 → XP_038402302.1  lysosomal alpha-glucosidase isoform X1

    UniProtKB/TrEMBL
    A0A8C0M7Y5

RNA

  1. XR_005364133.1 RNA Sequence

Alternate Dog10K_Boxer_Tasha Primary Assembly

Genomic

  1. NC_006591.4 Alternate Dog10K_Boxer_Tasha Primary Assembly

    Range
    2240939..2255430 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_845556.6 → XP_850649.1  lysosomal alpha-glucosidase isoform X2

    See identical proteins and their annotated locations for XP_850649.1

    UniProtKB/TrEMBL
    A0A8C0K798, A0A8C0PVH5, A0A8I3S046, A0A8P0TEX6
    Conserved Domains (4) summary
    smart00018
    Location:81 → 132
    PD; P or trefoil or TFF domain
    cd06602
    Location:359 → 717
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:246 → 359
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam16863
    Location:147 → 253
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

  2. XM_022422643.2 → XP_022278351.1  lysosomal alpha-glucosidase isoform X1

    UniProtKB/TrEMBL
    A0A8C0M7Y5
    Conserved Domains (4) summary
    smart00018
    Location:109 → 160
    PD; P or trefoil or TFF domain
    cd06602
    Location:387 → 745
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:274 → 387
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam16863
    Location:175 → 281
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

  3. XM_005624022.4 → XP_005624079.1  lysosomal alpha-glucosidase isoform X1

    UniProtKB/TrEMBL
    A0A8C0M7Y5
    Conserved Domains (4) summary
    smart00018
    Location:109 → 160
    PD; P or trefoil or TFF domain
    cd06602
    Location:387 → 745
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:274 → 387
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
    pfam16863
    Location:175 → 281
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase

RNA

  1. XR_005405459.1 RNA Sequence

Nucleotide Protein
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