Homo sapiens Protein: DAG1 | |||||||||||||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||||||||||||
InnateDB Protein | IDBP-589146.3 | ||||||||||||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||||||||||
Gene Symbol | DAG1 | ||||||||||||||||||||||||||||||||||
Protein Name | dystroglycan 1 (dystrophin-associated glycoprotein 1) | ||||||||||||||||||||||||||||||||||
Synonyms | 156DAG; A3a; AGRNR; DAG; MDDGC7; MDDGC9; | ||||||||||||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||||||||||||
Ensembl Protein | ENSP00000439334 | ||||||||||||||||||||||||||||||||||
InnateDB Gene | IDBG-34876 (DAG1) | ||||||||||||||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||||||||||||||
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.Alpha-dystroglycan is an extracellular peripheral glycoprotein that acts as a receptor for both extracellular matrix proteins containing laminin-G domains, and for certain adenoviruses. Receptor for laminin-2 (LAMA2) and agrin in peripheral nerve Schwann cells. Also acts as a receptor for M.leprae in peripheral nerve Schwann cells but only in the presence of the G-domain of LAMA2, and for lymphocytic choriomeningitis virus, Old World Lassa fever virus, and clade C New World arenaviruses.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. | ||||||||||||||||||||||||||||||||||
Subcellular Localization | Alpha-dystroglycan: Secreted, extracellular space.Beta-dystroglycan: Cell membrane; Single- pass type I membrane protein. Cytoplasm, cytoskeleton. Nucleus, nucleoplasm. Cell membrane, sarcolemma {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}. Note=The monomeric form translocates to the nucleus via the action of importins and depends on RAN. Nuclear transport is inhibited by Tyr-892 phosphorylation. In skeletal muscle, this phosphorylated form locates to a vesicular internal membrane compartment. In muscle cells, sarcolemma localization requires the presence of ANK2, while localization to costameres requires the presence of ANK3. Localizes to neuromuscular junctions (NMJs) in the presence of ANK2 (By similarity). In peripheral nerves, localizes to the Schwann cell membrane. Colocalizes with ERM proteins in Schwann- cell microvilli. {ECO:0000250}. | ||||||||||||||||||||||||||||||||||
Disease Associations | Muscular dystrophy-dystroglycanopathy limb-girdle C9 (MDDGC9) [MIM:613818]: An autosomal recessive muscular dystrophy showing onset in early childhood, and associated with mental retardation without structural brain anomalies. {ECO:0000269PubMed:21388311}. Note=The disease is caused by mutations affecting the gene represented in this entry. MDDGC7 is caused by DAG1 mutations that interfere with normal post- translational processing, resulting in defective DAG1 glycosylation and impaired interactions with extracellular-matrix components. Other muscular dystrophy-dystroglycanopathies are caused by defects in enzymes involved in protein O-glycosylation. | ||||||||||||||||||||||||||||||||||
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:0000269PubMed:15175026, ECO:0000269PubMed:8268918}. | ||||||||||||||||||||||||||||||||||
Comments | |||||||||||||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 50 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||||||||||||||
InterPro |
IPR006644
Dystroglycan-type cadherin-like IPR008465 Dystroglycan IPR015919 Cadherin-like IPR027468 Alpha-dystroglycan domain 2 |
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PFAM |
PF05454
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PRINTS | |||||||||||||||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||||||||||||||
SMART |
SM00736
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TIGRFAMs | |||||||||||||||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||||||||||||||
Modification | |||||||||||||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||||||||||||
SwissProt | Q14118 | ||||||||||||||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q14118 | ||||||||||||||||||||||||||||||||||
TrEMBL | C9JYS1 | ||||||||||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||||||||||
Entrez Gene | 1605 | ||||||||||||||||||||||||||||||||||
UniGene | Hs.76111 | ||||||||||||||||||||||||||||||||||
RefSeq | NP_001171115 | ||||||||||||||||||||||||||||||||||
HUGO | HGNC:2666 | ||||||||||||||||||||||||||||||||||
OMIM | 128239 | ||||||||||||||||||||||||||||||||||
CCDS | CCDS2799 | ||||||||||||||||||||||||||||||||||
HPRD | 00546 | ||||||||||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||||||||||
EMBL | AC104452 AK291692 BC012740 BC014616 CH471055 L19711 | ||||||||||||||||||||||||||||||||||
GenPept | AAA81779 AAH12740 AAH14616 BAF84381 EAW64989 | ||||||||||||||||||||||||||||||||||