full name
dystroglycan 1

synonyms
156DAG, A3a, AGRNR, DAG, MDDGC7, MDDGC9, DAG1, ENSG00000173402

HGNC
HGNC:2666

Entrez Gene
Gene:1605

ENSEMBL
ENSG00000173402

location
chr: 3
start: 49506136
stop: 49573051
strand: +

OMIM
OMIM:128239: DAG1
OMIM:616538: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
OMIM:613818: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9

transcripts
ENST00000515359.2
ENST00000539901.1
ENST00000545947.1
ENST00000538711.1
ENST00000541308.1
ENST00000308775.2

pathways
Arrhythmogenic right ventricular cardiomyopathy (ARVC) [NCBI:117293] [KEGG:hsa05412] [PUBMED:16823481] [PUBMED:19205777] [PUBMED:11716909] [PUBMED:12270949] [PUBMED:18382419] [PUBMED:16101641] [PUBMED:16124859] [PUBMED:17413274]
Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3 [NCBI:1383057] [REACTOME:R-HSA-5083628] [PUBMED:23329833] [PUBMED:22172424]
Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1 [NCBI:1383055] [REACTOME:R-HSA-5083633] [PUBMED:22172424] [PUBMED:23329833]
Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2 [NCBI:1383056] [REACTOME:R-HSA-5083629] [PUBMED:22172424] [PUBMED:23329833]
Dilated cardiomyopathy [NCBI:121494] [KEGG:hsa05414] [PUBMED:11524405] [PUBMED:11805847] [PUBMED:12270949] [PUBMED:14522402] [PUBMED:19017683] [PUBMED:15146239] [PUBMED:18672201] [PUBMED:19273156] [PUBMED:19246813] [PUBMED:11716909] [PUBMED:16817756]
Disease [NCBI:1268854] [REACTOME:R-HSA-1643685]
Diseases associated with O-glycosylation of proteins [NCBI:1383049] [REACTOME:R-HSA-3906995] [PUBMED:24051442] [PUBMED:24507773]
Diseases of glycosylation [NCBI:1269010] [REACTOME:R-HSA-3781865] [PUBMED:22983739] [PUBMED:12756558] [PUBMED:22343051] [PUBMED:6543331] [PUBMED:16755287] [PUBMED:19765534] [PUBMED:12409504] [PUBMED:22838182] [PUBMED:2301971] [PUBMED:21384229]
ECM proteoglycans [NCBI:1270256] [REACTOME:R-HSA-3000178] [PUBMED:20301236] [PUBMED:21307119]
ECM-receptor interaction [NCBI:83068] [KEGG:hsa04512] [PUBMED:7698997] [PUBMED:15381249] [PUBMED:12796473] [PUBMED:11331578] [PUBMED:15036264] [PUBMED:12125070] [PUBMED:12736199] [PUBMED:15229478] [PUBMED:11572082] [PUBMED:10617638] [PUBMED:12845610] [PUBMED:12921709]
Extracellular matrix organization [NCBI:1270244] [REACTOME:R-HSA-1474244] [PUBMED:21123617] [PUBMED:21917992] [PUBMED:12845610]
Hypertrophic cardiomyopathy (HCM) [NCBI:114229] [KEGG:hsa05410] [PUBMED:11805847] [PUBMED:18572189] [PUBMED:14711353] [PUBMED:19136482] [PUBMED:18056765] [PUBMED:11225594] [PUBMED:12844200] [PUBMED:10615904] [PUBMED:11716909] [PUBMED:11371514] [PUBMED:12270949]
Integrin cell surface interactions [NCBI:1270260] [REACTOME:R-HSA-216083] [PUBMED:10215583] [PUBMED:15147720] [PUBMED:12231361] [PUBMED:8866399] [PUBMED:19273203]
Metabolism of proteins [NCBI:1268677] [REACTOME:R-HSA-392499]
Non-integrin membrane-ECM interactions [NCBI:1270254] [REACTOME:R-HSA-3000171] [PUBMED:15039999] [PUBMED:20565253]
O-linked glycosylation [NCBI:1268734] [REACTOME:R-HSA-5173105] [PUBMED:9673446] [PUBMED:22722607]
Post-translational protein modification [NCBI:1268701] [REACTOME:R-HSA-597592]
Viral myocarditis [NCBI:125138] [KEGG:hsa05416] [PUBMED:19357408] [PUBMED:18545064] [PUBMED:18357777] [PUBMED:11524405] [PUBMED:12920582] [PUBMED:14522402] [PUBMED:17200452] [PUBMED:18039131] [PUBMED:16413486] [PUBMED:12439638] [PUBMED:16817756] [PUBMED:16845885] [PUBMED:10051305] [PUBMED:10904843]