Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1605
Gene name Gene Name - the full gene name approved by the HGNC.
Dystroglycan 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DAG1
Synonyms (NCBI Gene) Gene synonyms aliases
156DAG, A3a, AGRNR, DAG, LGMDR16, MDDGA9, MDDGC7, MDDGC9
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.31
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs2229010 C>G,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, synonymous variant
rs41290704 C>G Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, missense variant
rs139781017 G>A,C Conflicting-interpretations-of-pathogenicity, likely-benign Synonymous variant, coding sequence variant
rs140204495 G>A,C Conflicting-interpretations-of-pathogenicity, uncertain-significance Synonymous variant, coding sequence variant
rs143763229 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Synonymous variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005906 hsa-miR-29a-3p qRT-PCR 21169019
MIRT020649 hsa-miR-155-5p Proteomics 18668040
MIRT028523 hsa-miR-30a-5p Proteomics 18668040
MIRT046717 hsa-miR-222-3p CLASH 23622248
MIRT040760 hsa-miR-18a-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0001618 Function Virus receptor activity IDA 22156524
GO:0001618 Function Virus receptor activity IEA
GO:0001954 Process Positive regulation of cell-matrix adhesion IEA
GO:0002009 Process Morphogenesis of an epithelium IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
128239 2666 ENSG00000173402
Protein
UniProt ID Q14118
Protein name Dystroglycan 1 (Dystroglycan) (Dystrophin-associated glycoprotein 1) [Cleaved into: Alpha-dystroglycan (Alpha-DG); Beta-dystroglycan (Beta-DG)]
Protein function 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.; FU
PDB 1EG4 , 2MK7 , 5GGP , 5LLK , 6JJY , 7E9K , 7E9L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05345 He_PIG 61 156 Domain
PF18424 a_DG1_N2 182 304 Alpha-Dystroglycan N-terminal domain 2 Domain
PF05454 DAG1 606 895 Dystroglycan (Dystrophin-associated glycoprotein 1) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in a variety of fetal and adult tissues. In epidermal tissue, located to the basement membrane. Also expressed in keratinocytes and fibroblasts. {ECO:0000269|PubMed:15175026, ECO:0000269|PubMed:8268918}.
Sequence
MRMSVGLSLLLPLSGRTFLLLLSVVMAQSHWPSEPSEAVRDWENQLEASMHSVLSDLHEA
VPTVVGIPDGTAVVGRSFRVTIPTDLIASSGDIIKVSAAGKEALPSWLHWDSQSHTLEGL
PLDTDKGVHYISVSATRLGANGSHIPQTSSVFSIEV
YPEDHSELQSVRTASPDPGEVVSS
ACAADEPVTVLTVILDADLTKMTPKQRIDLLHRMRSFSEVELHNMKLVPVVNNRLFDMSA
FMAGPGNAKKVVENGALLSWKLGCSLNQNSVPDIHGVEAPAREGAMSAQLGYPVVGWHIA
NKKP
PLPKRVRRQIHATPTPVTAIGPPTTAIQEPPSRIVPTPTSPAIAPPTETMAPPVRD
PVPGKPTVTIRTRGAIIQTPTLGPIQPTRVSEAGTTVPGQIRPTMTIPGYVEPTAVATPP
TTTTKKPRVSTPKPATPSTDSTTTTTRRPTKKPRTPRPVPRVTTKVSITRLETASPPTRI
RTTTSGVPRGGEPNQRPELKNHIDRVDAWVGTYFEVKIPSDTFYDHEDTTTDKLKLTLKL
REQQLVGEKSWVQFNSNSQLMYGLPDSSHVGKHEYFMHATDKGGLSAVDAFEIHVHRRPQ
GDRAPARFKAKFVGDPALVLNDIHKKIALVKKLAFAFGDRNCSTITLQNITRGSIVVEWT
NNTLPLEPCPKEQIAGLSRRIAEDDGKPRPAFSNALEPDFKATSITVTGSGSCRHLQFIP
VVPPRRVPSEAPPTEVPDRDPEKSSEDDVYLHTVIPAVVVAAILLIAGIIAMICYRKKRK
GKLTLEDQATFIKKGVPIIFADELDDSKPPPSSSMPLILQEEKAPLPPPEYPNQSVPETT
PLNQDTMGEYTPLRDEDPNAPPYQPPPPFTAPMEGKGSRPKNMTPYRSPPPYVPP
Sequence length 895
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Virion - Lassa virus and SFTS virus
ECM-receptor interaction
Cytoskeleton in muscle cells
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Viral myocarditis
  ECM proteoglycans
Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3
Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2
Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1
O-linked glycosylation
Regulation of expression of SLITs and ROBOs
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 rs869320680 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Isolated Asymptomatic Elevation Of Creatine Phosphokinase isolated asymptomatic elevation of creatine phosphokinase N/A N/A GenCC
Limb-girdle muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2P N/A N/A ClinVar
Myopathy myopathy N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 24077328
Apraxias Associate 20234391
Breast Neoplasms Inhibit 12598319
Breast Neoplasms Associate 17640712, 33500458
Carcinoma Ovarian Epithelial Associate 26637171
Carcinoma Renal Cell Associate 18087214, 20626751, 26220087
Cardiomyopathy Dilated Associate 22242004
Colorectal Neoplasms Associate 22964035
Dementia Associate 30120299
Esophageal Squamous Cell Carcinoma Associate 37014625