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GAA glucosidase alpha, acid [ Homo sapiens (human) ]

Gene ID: 2548, updated on 15-May-2016
Official Symbol
GAAprovided by HGNC
Official Full Name
glucosidase alpha, acidprovided by HGNC
Primary source
HGNC:HGNC:4065
See related
Ensembl:ENSG00000171298 HPRD:06006; MIM:606800; Vega:OTTHUMG00000177537
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]
Orthologs
Location:
17q25.2-q25.3
Exon count:
21
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 17 NC_000017.11 (80101531..80119881)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (78075339..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 uncharacterized LOC105371920

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alpha-1,4-glucosidase activity EXP
Inferred from Experiment
more info
PubMed 
alpha-1,4-glucosidase activity IDA
Inferred from Direct Assay
more info
PubMed 
carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
maltose alpha-glucosidase activity IEA
Inferred from Electronic Annotation
more info
 
oligo-1,6-glucosidase activity EXP
Inferred from Experiment
more info
PubMed 
Process Evidence Code Pubs
cardiac muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
diaphragm contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
glucose metabolic process IC
Inferred by Curator
more info
PubMed 
glycogen catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
glycogen catabolic process TAS
Traceable Author Statement
more info
 
heart morphogenesis IEA
Inferred from Electronic Annotation
more info
 
locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
lysosome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
maltose metabolic process IC
Inferred by Curator
more info
PubMed 
muscle cell cellular homeostasis IEA
Inferred from Electronic Annotation
more info
 
neuromuscular process controlling balance IEA
Inferred from Electronic Annotation
more info
 
neuromuscular process controlling posture IEA
Inferred from Electronic Annotation
more info
 
regulation of the force of heart contraction IEA
Inferred from Electronic Annotation
more info
 
sucrose metabolic process IC
Inferred by Curator
more info
PubMed 
tissue development IEA
Inferred from Electronic Annotation
more info
 
vacuolar sequestering IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal lumen TAS
Traceable Author Statement
more info
 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
lysosomal alpha-glucosidase
Names
acid maltase
aglucosidase alfa
NP_000143.2
NP_001073271.1
NP_001073272.1

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_000152.4NP_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, OTTHUMP00000256906, ENST00000302262, OTTHUMT00000437441
    Conserved Domains (4) summary
    cd00111
    Location:81130
    Trefoil; P or trefoil or TFF domain; Trefoil factor family domain peptides are mucin-associated molecules, largely found in epithelia of gastrointestinal tissues. Function is not known but it was originally identified from mucosal tissues, where it may have a ...
    pfam01055
    Location:340824
    Glyco_hydro_31; Glycosyl hydrolases family 31
    cd06602
    Location:359717
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:246359
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
  2. NM_001079803.2NP_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, OTTHUMP00000256905, ENST00000390015, OTTHUMT00000437439
    Conserved Domains (4) summary
    cd00111
    Location:81130
    Trefoil; P or trefoil or TFF domain; Trefoil factor family domain peptides are mucin-associated molecules, largely found in epithelia of gastrointestinal tissues. Function is not known but it was originally identified from mucosal tissues, where it may have a ...
    pfam01055
    Location:340824
    Glyco_hydro_31; Glycosyl hydrolases family 31
    cd06602
    Location:359717
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:246359
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
  3. NM_001079804.2NP_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, HY101855, M34424
    Consensus CDS
    CCDS32760.1
    UniProtKB/Swiss-Prot
    P10253
    Conserved Domains (4) summary
    cd00111
    Location:81130
    Trefoil; P or trefoil or TFF domain; Trefoil factor family domain peptides are mucin-associated molecules, largely found in epithelia of gastrointestinal tissues. Function is not known but it was originally identified from mucosal tissues, where it may have a ...
    pfam01055
    Location:340824
    Glyco_hydro_31; Glycosyl hydrolases family 31
    cd06602
    Location:359717
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:246359
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)

RNA

  1. NR_134848.1 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, BU630327, HY101855

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

    Range
    80101531..80119881
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257194.3XP_005257251.1  

    See identical proteins and their annotated locations for XP_005257251.1

    UniProtKB/Swiss-Prot
    P10253
    Conserved Domains (4) summary
    cd00111
    Location:81130
    Trefoil; P or trefoil or TFF domain; Trefoil factor family domain peptides are mucin-associated molecules, largely found in epithelia of gastrointestinal tissues. Function is not known but it was originally identified from mucosal tissues, where it may have a ...
    pfam01055
    Location:340824
    Glyco_hydro_31; Glycosyl hydrolases family 31
    cd06602
    Location:359717
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:246359
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)
  2. XM_005257193.1XP_005257250.1  

    See identical proteins and their annotated locations for XP_005257250.1

    UniProtKB/Swiss-Prot
    P10253
    Conserved Domains (4) summary
    cd00111
    Location:81130
    Trefoil; P or trefoil or TFF domain; Trefoil factor family domain peptides are mucin-associated molecules, largely found in epithelia of gastrointestinal tissues. Function is not known but it was originally identified from mucosal tissues, where it may have a ...
    pfam01055
    Location:340824
    Glyco_hydro_31; Glycosyl hydrolases family 31
    cd06602
    Location:359717
    GH31_MGAM_SI_GAA; maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase
    cd14752
    Location:246359
    GH31_N; N-terminal domain of glycosyl hydrolase family 31 (GH31)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    78161682..78180006
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)