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GAA alpha glucosidase [ Homo sapiens (human) ]

Gene ID: 2548, updated on 18-Sep-2024

Summary

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

See GAA in Genome Data Viewer
Location:
17q25.3
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (80101581..80119881)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (81002020..81020360)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (78075380..78093680)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene coiled-coil domain 40 molecular ruler complex subunit Neighboring gene uncharacterized LOC124904074 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:78039691-78040515 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78056255-78056756 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:78064021-78064580 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9099 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12928 Neighboring gene microRNA 1268b Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78083610-78084585 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:78086615-78087127 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78091523-78092024 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:78097302-78097924 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:78107357-78107522 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:78120154-78120868 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:78120869-78121581 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:78121582-78122295 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78122296-78123008 Neighboring gene eukaryotic translation initiation factor 4A3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:78126203-78126704 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:78126705-78127204 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:78129355-78129892 Neighboring gene Sharpr-MPRA regulatory region 5287 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:78151904-78153103 Neighboring gene caspase recruitment domain family member 14 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:78163065-78163581 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:78178385-78179584 Neighboring gene N-sulfoglucosamine sulfohydrolase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables alpha-1,4-glucosidase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
Process Evidence Code Pubs
involved_in aorta development IEA
Inferred from Electronic Annotation
more info
 
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
 
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 glycophagy IEA
Inferred from Electronic Annotation
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
 
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
NP_001393670.1
NP_001393671.1
XP_047291675.1
XP_054189174.1

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_000152.5 → NP_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, Q09GN4, Q14351, Q16302, Q8IWE7
    Related
    ENSP00000305692.3, ENST00000302262.8
    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:159 → 253
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase
  2. NM_001079803.3 → NP_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, Q09GN4, Q14351, Q16302, Q8IWE7
    Related
    ENSP00000374665.3, ENST00000390015.7
    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:159 → 253
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase
  3. NM_001079804.3 → NP_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, Q09GN4, Q14351, Q16302, Q8IWE7
    Related
    ENSP00000460543.2, ENST00000570803.6
    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:159 → 253
    NtCtMGAM_N; N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase
  4. NM_001406741.1 → NP_001393670.1  lysosomal alpha-glucosidase preproprotein

    Status: REVIEWED

    Source sequence(s)
    AC087741
    Consensus CDS
    CCDS32760.1
    UniProtKB/Swiss-Prot
    P10253, Q09GN4, Q14351, Q16302, Q8IWE7
    Related
    ENSP00000519348.1, ENST00000714058.1
  5. NM_001406742.1 → NP_001393671.1  lysosomal alpha-glucosidase preproprotein

    Status: REVIEWED

    Source sequence(s)
    AC087741
    Consensus CDS
    CCDS32760.1
    UniProtKB/Swiss-Prot
    P10253, Q09GN4, Q14351, Q16302, Q8IWE7
    Related
    ENSP00000458306.2, ENST00000577106.6

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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    80101581..80119881
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047435719.1 → XP_047291675.1  lysosomal alpha-glucosidase isoform X1

    UniProtKB/Swiss-Prot
    P10253, Q09GN4, Q14351, Q16302, Q8IWE7

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791802.1 Reference GRCh38.p14 PATCHES

    Range
    126287..144587
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333199.1 → XP_054189174.1  lysosomal alpha-glucosidase isoform X1

    UniProtKB/Swiss-Prot
    P10253, Q09GN4, Q14351, Q16302, Q8IWE7

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    81002020..81020360
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)