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Tclin
GAA
Lysosomal alpha-glucosidase

Protein Summary
Description
Essential for the degradation of glycogen in lysosomes (PubMed:1856189, PubMed:7717400, PubMed:14695532, PubMed:18429042). Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans (PubMed:29061980). 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000302262
  • ENSP00000305692
  • ENSG00000171298
  • ENST00000390015
  • ENSP00000374665

Symbol
  • LYAG
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
histone modification site profile
0.89
transcription factor perturbation
0.88
protein domain
0.85
disease perturbation
0.83
cellular component
0.8


Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
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GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 141.7   (req: < 5)
Gene RIFs: 63   (req: <= 3)
Antibodies: 296   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 141.7   (req: >= 5)
Gene RIFs: 63   (req: > 3)
Antibodies: 296   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 20
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 9
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drugs: 4
GWAS Traits (9)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean reticulocyte volume
1
2
2
88.6
reticulocyte measurement
3
2
5
87.4
reticulocyte count
7
2
9
87.3
mean corpuscular volume
1
1
1
73
Moyamoya disease
1
1
0
1.4
68.8
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean reticulocyte volume
2
88.6
reticulocyte measurement
5
87.4
reticulocyte count
9
87.3
mean corpuscular volume
1
73
Moyamoya disease
0
1.4
68.8
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
glucosidase alpha, acid
VGNC:9298
454940
Macaque
glucosidase alpha, acid
712054
Mouse
MGI:95609
14387
Rat
RGD:735227
367562
Dog
glucosidase alpha, acid
VGNC:41044
483352
Species
Name
OMA
EggNOG
Inparanoid
Chimp
glucosidase alpha, acid
Macaque
glucosidase alpha, acid
Mouse
Rat
Dog
glucosidase alpha, acid
Protein Structure (7 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-P10253-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 5 of 7
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (18)
Disease (R-HSA-1643685)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 12
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Disease
Reactome
Diseases of carbohydrate metabolism
Reactome
Diseases of metabolism
Reactome
Glycogen breakdown (glycogenolysis)
Reactome
Glycogen metabolism
Name
Explore in Pharos
Explore in Source
Disease
Diseases of carbohydrate metabolism
Diseases of metabolism
Glycogen breakdown (glycogenolysis)
Glycogen metabolism
Protein-Protein Interactions (240)
1 – 10 of 240
LRRC24
Tdark
Novelty:  2.61911627
p_int:  0.999281612
p_ni:  0.000245372
p_wrong:  0.000473016
Score:  0.223
Data Source:  BioPlex,STRINGDB
DHFR2
Tbio
Family:  Enzyme
Novelty:  0.02374466
p_int:  0.999277871
p_ni:  0.000722129
Data Source:  BioPlex
B4GALNT3
Tbio
Family:  Enzyme
Novelty:  0.1822928
p_int:  0.997127455
p_ni:  0.002717307
p_wrong:  0.000155237
Score:  0.287
Data Source:  BioPlex,STRINGDB
MANEAL
Tdark
Family:  Enzyme
Novelty:  0.71535497
p_int:  0.992965125
p_ni:  0.007034253
p_wrong:  6.22e-7
Data Source:  BioPlex
TMEM132A
Tdark
Novelty:  0.26489093
p_int:  0.99143224
p_ni:  0.00856776
Data Source:  BioPlex
B4GALT7
Tbio
Family:  Enzyme
Novelty:  0.02175499
p_int:  0.984664989
p_ni:  0.01533501
p_wrong:  1e-9
Score:  0.211
Data Source:  BioPlex,STRINGDB
CNTNAP3B
Tdark
Novelty:  0.25889644
p_int:  0.92602386
p_ni:  0.073976137
p_wrong:  2e-9
Data Source:  BioPlex
EXT1
Tbio
Family:  Enzyme
Novelty:  0.00355951
p_int:  0.906060044
p_ni:  0.093939956
Score:  0.159
Data Source:  BioPlex,STRINGDB
GALNT7
Tbio
Family:  Enzyme
Novelty:  0.05328171
p_int:  0.899355676
p_ni:  0.100644324
Score:  0.321
Data Source:  BioPlex,STRINGDB
POGLUT1
Tbio
Family:  Enzyme
Novelty:  0.03821516
p_int:  0.897200515
p_ni:  0.102799485
Data Source:  BioPlex
Publication Statistics
PubMed Score  141.70

PubMed score by year
PubTator Score  770.75

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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