GAA alpha glucosidase [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 17q25.3

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (80101581..80119881)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (81002020..81020360)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (78075380..78093680)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).
Title: Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).
Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.
Title: Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.
Phase I study of liver depot gene therapy in late-onset Pompe disease.
Title: Phase I study of liver depot gene therapy in late-onset Pompe disease.
CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease.
Title: CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease.
Variable Genotype-Phenotype Correlation of Pompe's Disease Caused by a c.2015 G > A (p.Arg672Gln) Mutation in the GAA Gene.
Title: Variable Genotype-Phenotype Correlation of Pompe's Disease Caused by a c.2015 G > A (p.Arg672Gln) Mutation in the GAA Gene.
Broad variation in phenotypes for common GAA genotypes in Pompe disease.
Title: Broad variation in phenotypes for common GAA genotypes in Pompe disease.
Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes.
Title: Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes.
Phenotypic implications of pathogenic variant types in Pompe disease.
Title: Phenotypic implications of pathogenic variant types in Pompe disease.
Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants.
Title: Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants.
GAA gene mutation detection following clinical evaluation and enzyme activity analysis in Azeri Turkish patients with Pompe disease.
Title: GAA gene mutation detection following clinical evaluation and enzyme activity analysis in Azeri Turkish patients with Pompe disease.

Submit: New GeneRIF Correction See all GeneRIFs (87)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Glycogen storage disease, type II MedGen: C0017921 OMIM: 232300 GeneReviews: Pompe Disease	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH98689 (e-PCR)
- UniSTS:88075

RH92754 (e-PCR)
- UniSTS:83730

GDB:178578 (e-PCR)
- UniSTS:155030

G07071 (e-PCR)
- UniSTS:59349

GDB:371877 (e-PCR)
- UniSTS:65251

RH79901 (e-PCR)
- UniSTS:89317

GDB:180941 (e-PCR)
- UniSTS:155134

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
enables maltose alpha-glucosidase activity	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

Component	Evidence Code	Pubs
located_in autolysosome lumen	IEA Inferred from Electronic Annotation more info
located_in azurophil granule membrane	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in ficolin-1-rich granule membrane	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in lysosomal lumen	TAS Traceable Author Statement more info
located_in lysosomal membrane	HDA more info	PubMed
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in tertiary granule membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: lysosomal alpha-glucosidase

Names: acid maltase; aglucosidase alfa; glucosidase alpha, acid

NP_000143.2

EC 3.2.1.20

NP_001073271.1

EC 3.2.1.20

NP_001073272.1

EC 3.2.1.20

NP_001393670.1

EC 3.2.1.20

NP_001393671.1

EC 3.2.1.20

XP_047291675.1

EC 3.2.1.20

XP_054189174.1

EC 3.2.1.20

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.

Genomic

NG_009822.1 RefSeqGene

Range

5001..23325

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_673

mRNA and Protein(s)

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
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
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
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
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

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