Tclin GAA Lysosomal alpha-glucosidase

Protein Classes

PANTHER Classes

Protein / Hydrolase / Glucosidase / Lysosomal Alpha-glucosidase

DTO Classes

Protein / Enzyme / Hydrolase / Glucosidase / 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

• P10253
• Q09GN4
• Q14351
• Q16302
• Q8IWE7

Gene Name

• GAA

Ensembl ID

• ENST00000302262
• ENSP00000305692
• ENSG00000171298
• ENST00000390015
• ENSP00000374665

Symbol

• LYAG

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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GENEVA

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.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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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

Approved Drugs (4)

Explore Approved Drugs

1 – 4 of 4

miglustat

GAATclin Enzyme

IC50 : 7

miglitol

GAATclin Enzyme

INHIBITOR IC50 : 6.46

migalastat

GAATclin Enzyme

IC50 : 7.4000001

voglibose

GAATclin Enzyme

INHIBITOR IC50 : 7.15

Active Ligands (9)

Explore Active Ligands

1 – 9 of 9

N-Adamantanemethoxypentyl D-deoxynojirimycin

GAATclin Enzyme

IC50 : 6.4

CHEMBL1088158

GAATclin Enzyme

IC50 : 6.3

1-deoxynojirimycin

GAATclin Enzyme

Ki : 6.82

CHEMBL432221

GAATclin Enzyme

Ki : 6

alpha-Homonojirimycin

GAATclin Enzyme

IC50 : 7

CHEMBL75971

GAATclin Enzyme

Ki : 6.38

CHEMBL86772

GAATclin Enzyme

IC50 : 7.99

5-Amino-1-hydroxymethyl-cyclopentane-1,2,3,4-tetraol

GAATclin Enzyme

IC50 : 6.4

CHEMBL1603014

GAATclin Enzyme

IC50 : 6.12

GWAS Traits (9)

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5

1 – 5 of 9

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
mean reticulocyte volume	EFO_0010701	1	2	2		88.6
reticulocyte measurement	EFO_0010700	3	2	5		87.4
reticulocyte count	EFO_0007986	7	2	9		87.3
mean corpuscular volume	EFO_0004526	1	1	1		73
Moyamoya disease	Orphanet_2573	1	1	0	1.4	68.8

• Explore on Target Illumination GWAS Analytics (TIGA)

Items per page:

5

1 – 5 of 9

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
mean reticulocyte volume	EFO_0010701	2		88.6
reticulocyte measurement	EFO_0010700	5		87.4
reticulocyte count	EFO_0007986	9		87.3
mean corpuscular volume	EFO_0004526	1		73
Moyamoya disease	Orphanet_2573	0	1.4	68.8

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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	glucosidase, alpha, acid	MGI:95609	14387
Rat	glucosidase, alpha, acid	RGD:735227	367562
Dog	glucosidase alpha, acid	VGNC:41044	483352

Species	Name	OMA	EggNOG	Inparanoid
Chimp	glucosidase alpha, acid
Macaque	glucosidase alpha, acid
Mouse	glucosidase, alpha, acid
Rat	glucosidase, alpha, acid
Dog	glucosidase alpha, acid

Protein Structure (7 Structures, 1 AlphaFold Model)

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Representation

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Color Scheme

  target   atomindex   bfactor   chainname   electrostatic   element   hydrophobicity   resname   sstruc

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)

Reactome (12)

KEGG (4)

PathwayCommons (2)

Disease (R-HSA-1643685)

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Find Similar Targets

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1 – 5 of 12

Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Disease	1105 targets	R-HSA-1643685
Reactome	Diseases of carbohydrate metabolism	35 targets	R-HSA-5663084
Reactome	Diseases of metabolism	103 targets	R-HSA-5668914
Reactome	Glycogen breakdown (glycogenolysis)	15 targets	R-HSA-70221
Reactome	Glycogen metabolism	28 targets	R-HSA-8982491

Name	Explore in Pharos	Explore in Source
Disease	1105 targets	R-HSA-1643685
Diseases of carbohydrate metabolism	35 targets	R-HSA-5663084
Diseases of metabolism	103 targets	R-HSA-5668914
Glycogen breakdown (glycogenolysis)	15 targets	R-HSA-70221
Glycogen metabolism	28 targets	R-HSA-8982491

Gene Ontology Terms (29)

Functions (4)

Components (9)

Processes (16)

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Items per page:

10

1 – 4 of 4

GO Term	Evidence	Assigned by
alpha-glucosidase activity	Inferred from Experiment (EXP)	Reactome
alpha-1,4-glucosidase activity	Inferred from Direct Assay (IDA)	UniProtKB
carbohydrate binding	Inferred from Electronic Annotation (IEA)	InterPro
maltose alpha-glucosidase activity	Inferred from Electronic Annotation (IEA)	UniProtKB-EC

Protein-Protein Interactions (240)

Explore Interacting Targets

1 – 10 of 240

• See Interactions on String-DB

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

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PubTator Score  770.75

PubTator score by year

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Amino Acid Sequence

Residue Counts

Protein Sequence

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UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Complete proteome
Direct protein sequencing
Disease mutation
Disulfide bond
Glycogen storage disease
Glycoprotein
Glycosidase
Hydrolase
Lysosome

GWAS Trait Find Similar Targets

No Header	No Header
mean corpuscular hemoglobin concentration
mean corpuscular volume
mean reticulocyte volume
Moyamoya disease
platelet count
platelet crit
psoriasis
reticulocyte count
reticulocyte measurement

MGI Phenotype Find Similar Targets

No Header	No Header
behavior/neurological phenotype
cardiovascular system phenotype
cellular phenotype
growth/size/body region phenotype
homeostasis/metabolism phenotype
muscle phenotype
skeleton phenotype