Entity Details

Primary name DAG1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ14118
EntryNameDAG1_HUMAN
FullNameDystroglycan
TaxID9606
Evidenceevidence at protein level
Length895
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesDAG1

GO terms

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GOName
GO:0001618 virus receptor activity
GO:0001954 positive regulation of cell-matrix adhesion
GO:0002009 morphogenesis of an epithelium
GO:0002011 morphogenesis of an epithelial sheet
GO:0002162 dystroglycan binding
GO:0003779 actin binding
GO:0005509 calcium ion binding
GO:0005576 extracellular region
GO:0005604 basement membrane
GO:0005615 extracellular space
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005788 endoplasmic reticulum lumen
GO:0005796 Golgi lumen
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005912 adherens junction
GO:0005925 focal adhesion
GO:0006509 membrane protein ectodomain proteolysis
GO:0007411 axon guidance
GO:0007568 aging
GO:0008307 structural constituent of muscle
GO:0009897 external side of plasma membrane
GO:0010470 regulation of gastrulation
GO:0010717 regulation of epithelial to mesenchymal transition
GO:0014894 response to denervation involved in regulation of muscle adaptation
GO:0015631 tubulin binding
GO:0016010 dystrophin-associated glycoprotein complex
GO:0016011 dystroglycan complex
GO:0016021 integral component of membrane
GO:0016203 muscle attachment
GO:0016323 basolateral plasma membrane
GO:0016340 calcium-dependent cell-matrix adhesion
GO:0016476 regulation of embryonic cell shape
GO:0017166 vinculin binding
GO:0019048 modulation by virus of host process
GO:0021675 nerve development
GO:0021682 nerve maturation
GO:0022011 myelination in peripheral nervous system
GO:0030027 lamellipodium
GO:0030175 filopodium
GO:0030198 extracellular matrix organization
GO:0030336 negative regulation of cell migration
GO:0031103 axon regeneration
GO:0031643 positive regulation of myelination
GO:0033268 node of Ranvier
GO:0034399 nuclear periphery
GO:0034453 microtubule anchoring
GO:0042169 SH2 domain binding
GO:0042383 sarcolemma
GO:0043034 costamere
GO:0043231 intracellular membrane-bounded organelle
GO:0043236 laminin binding
GO:0043237 laminin-1 binding
GO:0043403 skeletal muscle tissue regeneration
GO:0043409 negative regulation of MAPK cascade
GO:0043434 response to peptide hormone
GO:0044853 plasma membrane raft
GO:0045211 postsynaptic membrane
GO:0045860 positive regulation of protein kinase activity
GO:0048714 positive regulation of oligodendrocyte differentiation
GO:0050807 regulation of synapse organization
GO:0051393 alpha-actinin binding
GO:0051898 negative regulation of protein kinase B signaling
GO:0060055 angiogenesis involved in wound healing
GO:0060441 epithelial tube branching involved in lung morphogenesis
GO:0060445 branching involved in salivary gland morphogenesis
GO:0062023 collagen-containing extracellular matrix
GO:0070062 extracellular exosome
GO:0070938 contractile ring
GO:0071260 cellular response to mechanical stimulus
GO:0071397 cellular response to cholesterol
GO:0071679 commissural neuron axon guidance
GO:0071711 basement membrane organization
GO:0098696 regulation of neurotransmitter receptor localization to postsynaptic specialization membrane
GO:0098942 retrograde trans-synaptic signaling by trans-synaptic protein complex
GO:0098978 glutamatergic synapse
GO:0098982 GABA-ergic synapse
GO:0099524 postsynaptic cytosol
GO:1904261 positive regulation of basement membrane assembly involved in embryonic body morphogenesis

Subcellular Location

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Subcellular Location
Cell junction
Cell membrane
Cytoplasm
Nucleus
Secreted

Domains

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DomainNameCategoryType
IPR006644 Dystroglycan-type cadherin-likeDomainDomain
IPR008465 Dystroglycan, C-terminalDomainDomain
IPR013783 Immunoglobulin-like foldFamilyHomologous superfamily
IPR015919 Cadherin-like superfamilyFamilyHomologous superfamily
IPR027468 Alpha-dystroglycan domain 2FamilyHomologous superfamily
IPR030398 DG-type SEA domainDomainDomain
IPR041631 Alpha-dystroglycan N-terminal domain 2DomainDomain

Diseases

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Disease IDSourceNameDescription
613818 OMIMMuscular dystrophy-dystroglycanopathy limb-girdle C9 (MDDGC9)An autosomal recessive muscular dystrophy showing onset in early childhood, and associated with mental retardation without structural brain anomalies. The disease is caused by variants 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.
616538 OMIMMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A9 (MDDGA9)An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. The disease is caused by variants affecting the gene represented in this entry.

Interactions

36 interactions

InteractorPartnerSourcesPublicationsLink
DAG1_HUMANUTRN_HUMANBioGRID, HPRD, IntAct, MINT10767429 10769203 30914516 details
DAG1_HUMANDAG1_HUMANHPRD, MINT11423118 11502221 8205617 details
DAG1_HUMANSRC_HUMANBioGRID, HPRD, IntAct11724572 12795607 17474147 details
DAG1_HUMANFYN_HUMANBioGRID, IntAct11724572 17474147 details
DAG1_HUMANGRB2_HUMANBioGRID, HPRD, IntAct10903901 17474147 7744812 details
DAG1_HUMANNCK1_HUMANBioGRID, IntAct11724572 17474147 details
DAG1_HUMANP85A_HUMANIntAct17474147 details
DAG1_HUMANDMD_HUMANBioGRID, HPRD, IntAct10355629 10932245 19109891 7592992 details
DAG1_HUMANAGRIN_HUMANBioGRID, IntAct30914516 8205617 details
DAG1_HUMANLAMA5_HUMANBioGRID, HPRD, IntAct10207021 30914516 details
DAG1_HUMANHMGB1_HUMANUniProt32867128 details
DAG1_HUMANCAV3_HUMANBioGRID, HPRD10988290 details
DAG1_HUMANDRP2_HUMANBioGRID, HPRD11430802 details
DAG1_HUMANCSK_HUMANBioGRID11724572 details
DAG1_HUMANSHC1_HUMANBioGRID, HPRD11724572 details
DAG1_HUMANCAV1_HUMANBioGRID11724572 34079125 details
DAG1_HUMANLAMA2_HUMANBioGRID, HPRD16709410 7925941 details
DAG1_HUMANTBA1A_HUMANBioGRID18341635 details
DAG1_HUMANACTN1_HUMANBioGRID18341635 details
DAG1_HUMANMTAP2_HUMANBioGRID18341635 details
DAG1_HUMANITB1_HUMANBioGRID18341635 details
DAG1_HUMANTLN1_HUMANBioGRID18341635 details
DAG1_HUMANVINC_HUMANBioGRID18341635 details
DAG1_HUMANAGR2_HUMANBioGRID12592373 20888340 details
DAG1_HUMANAGR3_HUMANBioGRID, HPRD12592373 details
DAG1_HUMANRAPSN_HUMANBioGRID, HPRD11342559 7619516 details
DAG1_HUMANPRAX_HUMANBioGRID11430802 details
DAG1_HUMANFAK1_HUMANBioGRID18341635 details
DAG1_HUMANSH3K1_HUMANBioGRID19531213 details
DAG1_HUMANWWP1_HUMANBioGRID, HPRD29635000 9169421 details
DAG1_HUMANAPRIO_HUMANBioGRID11032878 details
DAG1_HUMANPRIO_HUMANBioGRID11032878 details
DAG1_HUMANLAMA1_HUMANHPRD11798066 16709410 7925941 details
DAG1_HUMANWWP2_HUMANHPRD9169421 details
DAG1_HUMANMAGI1_HUMANHPRD9169421 details
DAG1_HUMANPGS1_HUMANHPRD10684260 details