DAG1 (dystroglycan 1)

2007-02-01 Affiliation

Identity

HGNC

DAG1

LOCATION

3p21.31

LOCUSID

1605

ALIAS

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

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 1605
MIM: 128239
HGNC: 2666
Ensembl: ENSG00000173402

Variants:

dbSNP: 1605
ClinVar: 1605
TCGA: ENSG00000173402
COSMIC: DAG1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000173402	ENST00000308775	Q14118
ENSG00000173402	ENST00000418588	C9J6Z6
ENSG00000173402	ENST00000421560	C9J196
ENSG00000173402	ENST00000428779	C9JYS1
ENSG00000173402	ENST00000430636	A0A1D5RMP6
ENSG00000173402	ENST00000431960	C9JQL4
ENSG00000173402	ENST00000435508	C9JEH2
ENSG00000173402	ENST00000452060	C9JEN1
ENSG00000173402	ENST00000452317	C9JY76
ENSG00000173402	ENST00000515359	Q14118
ENSG00000173402	ENST00000538711	Q14118
ENSG00000173402	ENST00000539901	Q14118
ENSG00000173402	ENST00000541308	Q14118
ENSG00000173402	ENST00000545947	Q14118

Expression (GTEx)

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
ECM-receptor interaction	KEGG	ko04512
ECM-receptor interaction	KEGG	hsa04512
Hypertrophic cardiomyopathy (HCM)	KEGG	ko05410
Hypertrophic cardiomyopathy (HCM)	KEGG	hsa05410
Arrhythmogenic right ventricular cardiomyopathy (ARVC)	KEGG	ko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)	KEGG	hsa05412
Dilated cardiomyopathy	KEGG	ko05414
Dilated cardiomyopathy	KEGG	hsa05414
Viral myocarditis	KEGG	hsa05416
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
O-linked glycosylation	REACTOME	R-HSA-5173105
Disease	REACTOME	R-HSA-1643685
Diseases of glycosylation	REACTOME	R-HSA-3781865
Extracellular matrix organization	REACTOME	R-HSA-1474244
Non-integrin membrane-ECM interactions	REACTOME	R-HSA-3000171
ECM proteoglycans	REACTOME	R-HSA-3000178
Integrin cell surface interactions	REACTOME	R-HSA-216083
Diseases associated with O-glycosylation of proteins	REACTOME	R-HSA-3906995
Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1	REACTOME	R-HSA-5083633
Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2	REACTOME	R-HSA-5083629
Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3	REACTOME	R-HSA-5083628

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
38177406	2024	DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.	1
38177406	2024	DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.	1
33513091	2021	NAD+ enhances ribitol and ribose rescue of α-dystroglycan functional glycosylation in human FKRP-mutant myotubes.	8
33566255	2021	The Association Between β-Dystroglycan in Airway Smooth Muscle and Eosinophils in Allergic Asthma.	0
33513091	2021	NAD+ enhances ribitol and ribose rescue of α-dystroglycan functional glycosylation in human FKRP-mutant myotubes.	8
33566255	2021	The Association Between β-Dystroglycan in Airway Smooth Muscle and Eosinophils in Allergic Asthma.	0
32824881	2020	The Molecular Basis and Biologic Significance of the β-Dystroglycan-Emerin Interaction.	4
32824881	2020	The Molecular Basis and Biologic Significance of the β-Dystroglycan-Emerin Interaction.	4
30450679	2019	Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy.	45
30736907	2019	Non-integrin laminin receptors in epithelia.	13
31054580	2019	Exogenous expression of the glycosyltransferase LARGE1 restores α-dystroglycan matriglycan and laminin binding in rhabdomyosarcoma.	7
30450679	2019	Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy.	45
30736907	2019	Non-integrin laminin receptors in epithelia.	13
31054580	2019	Exogenous expression of the glycosyltransferase LARGE1 restores α-dystroglycan matriglycan and laminin binding in rhabdomyosarcoma.	7
29635000	2018	β-dystroglycan is regulated by a balance between WWP1-mediated degradation and protection from WWP1 by dystrophin and utrophin.	7

Citation

Dessen P

DAG1 (dystroglycan 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46013