Tbio DAG1 Dystroglycan

Protein Classes

PANTHER Classes

Protein / Receptor / Dystroglycan

DTO Classes

Protein / Receptor / Dystroglycan

Protein Summary

Description

The dystroglycan complex is involved in a number of processes including laminin and basement membrane assembly, sarcolemmal stability, cell survival, peripheral nerve myelination, nodal structure, cell migration, and epithelial polarization. Alpha-dystroglycan is an extracellular peripheral glycoprotein that acts as a receptor for both extracellular matrix proteins containing laminin-G domains. Receptor for laminin-2 (LAMA2) and agrin in peripheral nerve Schwann cells. Beta-dystroglycan is a transmembrane protein that plays important roles in connecting the extracellular matrix to the cytoskeleton. Acts as a cell adhesion receptor in both muscle and non-muscle tissues. Receptor for both DMD and UTRN and, through these interactions, scaffolds axin to the cytoskeleton. Also functions in cell adhesion-mediated signaling and implicated in cell polarity. (Microbial infection) Alpha-dystroglycan acts as a receptor for lassa virus and lymphocytic choriomeningitis virus glycoprotein and class C new-world arenaviruses (PubMed:16254364, PubMed:19324387, PubMed:17360738). Alpha-dystroglycan acts as a Schwann cell receptor for Mycobacterium leprae, the causative organism of leprosy, but only in the presence of the G-domain of LAMA2 (PubMed:9851927). This gene encodes dystroglycan, a central component of dystrophin-glycoprotein complex that links the extracellular matrix and the cytoskeleton in the skeletal muscle. The encoded preproprotein undergoes O- and N-glycosylation, and proteolytic processing to generate alpha and beta subunits. Certain mutations in this gene are known to cause distinct forms of muscular dystrophy. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Nov 2015]

Uniprot Accession IDs

• Q14118
• A8K6M7
• Q969J9

Gene Name

• DAG1

Ensembl ID

• ENST00000308775
• ENSP00000312435
• ENSG00000173402
• ENST00000515359
• ENSP00000440705
• ENST00000538711
• ENSP00000438421
• ENST00000539901
• ENSP00000439334
• ENST00000541308
• ENSP00000440590
• ENST00000545947
• ENSP00000442600

Symbol

• A3a
• DAG
• AGRNR
• 156DAG
• MDDGA9
• MDDGC7
• MDDGC9
• LGMDR16

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
disease perturbation	1
transcription factor perturbation	0.98
biological process	0.93
molecular function	0.9
kinase perturbation	0.88

Related Tools

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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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: 600.46   (req: < 5)

Gene RIFs: 67   (req: <= 3)

Antibodies: 337   (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: 600.46   (req: >= 5)

Gene RIFs: 67   (req: > 3)

Antibodies: 337   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 45

Tchem

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

Active Ligand: 0

Tclin

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

Active Drug: 0

GWAS Traits (38)

• Explore on Target Illumination GWAS Analytics (TIGA)

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GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
self reported educational attainment	EFO_0004784	4	5	4	1	98.6
mathematical ability	EFO_0004875	4	3	4		97.2
intelligence	EFO_0004337	3	11	5	6.6	95.1
cognitive function measurement	EFO_0008354	2	2	3		93.4
reticulocyte count	EFO_0007986	3	2	3		92.9

• Explore on Target Illumination GWAS Analytics (TIGA)

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
self reported educational attainment	EFO_0004784	4	1	98.6
mathematical ability	EFO_0004875	4		97.2
intelligence	EFO_0004337	5	6.6	95.1
cognitive function measurement	EFO_0008354	3		93.4
reticulocyte count	EFO_0007986	3		92.9

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Orthologs (13)

1 – 5 of 13

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	dystroglycan 1	VGNC:6148	460372
Macaque	dystroglycan 1		706179
Mouse	dystroglycan 1	MGI:101864	13138
Rat	dystroglycan 1	RGD:621890	114489
Dog	dystroglycan 1	VGNC:39763	476623

Species	Name	OMA	EggNOG	Inparanoid
Chimp	dystroglycan 1
Macaque	dystroglycan 1
Mouse	dystroglycan 1
Rat	dystroglycan 1
Dog	dystroglycan 1

Protein Structure (4 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-Q14118-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 4 of 4

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 (27)

Reactome (16)

KEGG (5)

PathwayCommons (1)

WikiPathways (5)

Axon guidance (R-HSA-422475)

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Find Similar Targets

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Axon guidance	533 targets	R-HSA-422475
Reactome	Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3	2 targets	R-HSA-5083628
Reactome	Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1	3 targets	R-HSA-5083633
Reactome	Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2	3 targets	R-HSA-5083629
Reactome	Developmental Biology	1055 targets	R-HSA-1266738

Name	Explore in Pharos	Explore in Source
Axon guidance	533 targets	R-HSA-422475
Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3	2 targets	R-HSA-5083628
Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1	3 targets	R-HSA-5083633
Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2	3 targets	R-HSA-5083629
Developmental Biology	1055 targets	R-HSA-1266738

Gene Ontology Terms (76)

Functions (10)

Components (31)

Processes (35)

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1 – 10 of 10

GO Term	Evidence	Assigned by
actin binding	Inferred from Direct Assay (IDA)	UniProtKB
alpha-actinin binding	Inferred from Direct Assay (IDA)	UniProtKB
SH2 domain binding	Inferred from Direct Assay (IDA)	UniProtKB
tubulin binding	Inferred from Direct Assay (IDA)	UniProtKB
vinculin binding	Inferred from Physical Interaction (IPI)	UniProtKB
structural constituent of muscle	Inferred from Mutant Phenotype (IMP)	UniProtKB
laminin-1 binding	Inferred from Sequence or structural Similarity (ISS)	UniProtKB
calcium ion binding	Inferred from Electronic Annotation (IEA)	InterPro
dystroglycan binding	Inferred from Electronic Annotation (IEA)	Ensembl
virus receptor activity	Inferred from Electronic Annotation (IEA)	UniProtKB-KW

Protein-Protein Interactions (165)

Explore Interacting Targets

1 – 10 of 165

• See Interactions on String-DB

LGALS9

Tchem

Novelty:  0.00381766

p_int:  0.999999289

p_ni:  7.11e-7

Data Source:  BioPlex

PCDHGA5

Tdark

Novelty:  2.13631603

p_int:  0.999756494

p_ni:  0.000243506

Data Source:  BioPlex

PCDHGB4

Tdark

Novelty:  0.25018904

p_int:  0.999233509

p_ni:  0.000766491

Data Source:  BioPlex

LGALS8

Tchem

Novelty:  0.00623836

p_int:  0.99909176

p_ni:  0.00090824

Data Source:  BioPlex

GINM1

Tdark

Novelty:  1.0701107

p_int:  0.998779617

p_ni:  0.001220382

Data Source:  BioPlex

CEACAM21

Tdark

Novelty:  0.46116153

p_int:  0.998312301

p_ni:  0.001686187

p_wrong:  0.000001512

Data Source:  BioPlex

TNF

Tclin

Novelty:  0.00001457

p_int:  0.997018043

p_ni:  0.002981832

p_wrong:  1.25e-7

Score:  0.205

Data Source:  BioPlex,STRINGDB

TCTN2

Tbio

Novelty:  0.11617528

p_int:  0.995277091

p_ni:  0.004716987

p_wrong:  0.000005922

Data Source:  BioPlex

PCDHB11

Tdark

Novelty:  0.80480462

p_int:  0.990503171

p_ni:  0.009496828

Data Source:  BioPlex

TMEM106A

Tbio

Novelty:  0.32470607

p_int:  0.990205169

p_ni:  0.009794792

p_wrong:  3.9e-8

Data Source:  BioPlex

Publication Statistics

PubMed Score  600.46

PubMed score by year

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PubTator Score  282.15

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
Autocatalytic cleavage
Cell junction
Cell membrane
Complete proteome
Congenital muscular dystrophy
Cytoplasm
Cytoskeleton
Disease mutation
Disulfide bond

GWAS Trait Find Similar Targets

No Header	No Header
age at first sexual intercourse measurement
age at menarche
BMI-adjusted waist circumference
C-reactive protein measurement
chronotype measurement
cognitive function measurement
coronary artery disease
creatinine measurement
depressive symptom measurement
endometriosis

MGI Phenotype Find Similar Targets

No Header	No Header
behavior/neurological phenotype
cardiovascular system phenotype
cellular phenotype
embryo phenotype
growth/size/body region phenotype
homeostasis/metabolism phenotype
mortality/aging
muscle phenotype
nervous system phenotype
vision/eye phenotype