DAG1 (dystroglycan 1)

2007-02-01  

Identity

HGNC
LOCATION
3p21.31
LOCUSID
ALIAS
156DAG,A3a,AGRNR,DAG,LGMDR16,MDDGA9,MDDGC7,MDDGC9
FUSION GENES

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173402ENST00000308775Q14118
ENSG00000173402ENST00000418588C9J6Z6
ENSG00000173402ENST00000421560C9J196
ENSG00000173402ENST00000428779C9JYS1
ENSG00000173402ENST00000430636A0A1D5RMP6
ENSG00000173402ENST00000431960C9JQL4
ENSG00000173402ENST00000435508C9JEH2
ENSG00000173402ENST00000452060C9JEN1
ENSG00000173402ENST00000452317C9JY76
ENSG00000173402ENST00000515359Q14118
ENSG00000173402ENST00000538711Q14118
ENSG00000173402ENST00000539901Q14118
ENSG00000173402ENST00000541308Q14118
ENSG00000173402ENST00000545947Q14118

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
ECM-receptor interactionKEGGko04512
ECM-receptor interactionKEGGhsa04512
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGhsa05412
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
Viral myocarditisKEGGhsa05416
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
DiseaseREACTOMER-HSA-1643685
Diseases of glycosylationREACTOMER-HSA-3781865
Extracellular matrix organizationREACTOMER-HSA-1474244
Non-integrin membrane-ECM interactionsREACTOMER-HSA-3000171
ECM proteoglycansREACTOMER-HSA-3000178
Integrin cell surface interactionsREACTOMER-HSA-216083
Diseases associated with O-glycosylation of proteinsREACTOMER-HSA-3906995
Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1REACTOMER-HSA-5083633
Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2REACTOMER-HSA-5083629
Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3REACTOMER-HSA-5083628

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
121405582002Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies.265
200445762010O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding.149
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
125923732003hAG-2 and hAG-3, human homologues of genes involved in differentiation, are associated with oestrogen receptor-positive breast tumours and interact with metastasis gene C4.4a and dystroglycan.52
192442522009Loss of alpha-dystroglycan laminin binding in epithelium-derived cancers is caused by silencing of LARGE.51
219878222011Like-acetylglucosaminyltransferase (LARGE)-dependent modification of dystroglycan at Thr-317/319 is required for laminin binding and arenavirus infection.46
195872352009Tumor suppressor function of laminin-binding alpha-dystroglycan requires a distinct beta3-N-acetylglucosaminyltransferase.45
186913382009A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.42
271307322016The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition.37
271941012016ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan.37

Citation

Dessen P

DAG1 (dystroglycan 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46013/dag1