RAPSN and DAG1

Number of citations: 0 (PubMedID 11342559)
Data Source: HPRD (in vitro, in vivo)

		RAPSN	DAG1
Name		receptor associated protein of the synapse	dystroglycan 1
Structure		No pdb structure
GO Annotations	Cellular Component	Cytoplasm Golgi Apparatus Centrosome Cytosol Cytoskeleton Plasma Membrane Membrane Neuromuscular Junction Synapse Postsynaptic Membrane Postsynaptic Specialization Membrane	Golgi Membrane Extracellular Region Basement Membrane Extracellular Space Nucleus Nucleoplasm Cytoplasm Endoplasmic Reticulum Lumen Endoplasmic Reticulum Membrane Golgi Lumen Cytosol Cytoskeleton Plasma Membrane Cell-cell Junction Adherens Junction Focal Adhesion External Side Of Plasma Membrane Cell Surface Dystrophin-associated Glycoprotein Complex Dystroglycan Complex Membrane Basolateral Plasma Membrane Lamellipodium Filopodium Extracellular Matrix Node Of Ranvier Nuclear Periphery Sarcolemma Costamere Plasma Membrane Raft Membrane Raft Synapse Postsynaptic Membrane Extracellular Exosome Contractile Ring Photoreceptor Ribbon Synapse Postsynapse Glutamatergic Synapse GABA-ergic Synapse Postsynaptic Cytosol
	Molecular Function	Protein Binding Zinc Ion Binding Protein-macromolecule Adaptor Activity Acetylcholine Receptor Binding Ionotropic Glutamate Receptor Binding Protein-membrane Adaptor Activity Metal Ion Binding Structural Constituent Of Postsynaptic Specialization	Virus Receptor Activity Dystroglycan Binding Actin Binding Serine-type Endopeptidase Activity Calcium Ion Binding Protein Binding Structural Constituent Of Muscle Tubulin Binding Vinculin Binding SH2 Domain Binding Laminin Binding Laminin-1 Binding Protein-containing Complex Binding Alpha-actinin Binding
	Biological Process	Chemical Synaptic Transmission Synaptic Transmission, Cholinergic Neuromuscular Junction Development Skeletal Muscle Acetylcholine-gated Channel Clustering Motor Neuron Apoptotic Process Maintenance Of Postsynaptic Specialization Structure Neurotransmitter Receptor Localization To Postsynaptic Specialization Membrane Positive Regulation Of Neuromuscular Synaptic Transmission Regulation Of Postsynaptic Membrane Organization Establishment Of Protein Localization To Postsynaptic Membrane Positive Regulation Of Motor Neuron Apoptotic Process	Positive Regulation Of Cell-matrix Adhesion Morphogenesis Of An Epithelium Morphogenesis Of An Epithelial Sheet Heart Morphogenesis Membrane Protein Ectodomain Proteolysis Axon Guidance Heart Development Schwann Cell Differentiation Schwann Cell Development Response To Muscle Activity Response To Denervation Involved In Regulation Of Muscle Adaptation Protein Transport Muscle Attachment Calcium-dependent Cell-matrix Adhesion Nerve Development Nerve Maturation Myelination In Peripheral Nervous System Extracellular Matrix Organization Negative Regulation Of Cell Migration Axon Regeneration Positive Regulation Of Myelination Microtubule Anchoring Skeletal Muscle Tissue Regeneration Negative Regulation Of MAPK Cascade Response To Peptide Hormone Symbiont Entry Into Host Cell Regulation Of Synaptic Plasticity Positive Regulation Of Oligodendrocyte Differentiation Regulation Of Synapse Organization Negative Regulation Of Phosphatidylinositol 3-kinase/protein Kinase B Signal Transduction Angiogenesis Involved In Wound Healing Epithelial Tube Branching Involved In Lung Morphogenesis Branching Involved In Salivary Gland Morphogenesis Cellular Response To Mechanical Stimulus Cellular Response To Cholesterol Commissural Neuron Axon Guidance Basement Membrane Organization Regulation Of Neurotransmitter Receptor Localization To Postsynaptic Specialization Membrane Retrograde Trans-synaptic Signaling By Trans-synaptic Protein Complex
Pathways		None	Non-integrin membrane-ECM interactions ECM proteoglycans ECM proteoglycans Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3 Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2 Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1 DAG1 core M2 glycosylations DAG1 core M3 glycosylations DAG1 core M1 glycosylations Regulation of expression of SLITs and ROBOs EGR2 and SOX10-mediated initiation of Schwann cell myelination Formation of the dystrophin-glycoprotein complex (DGC) Formation of the dystrophin-glycoprotein complex (DGC) Matriglycan biosynthesis on DAG1
Diseases		Congenital myasthenic syndrome Fetal akinesia deformation sequence (FADS); Pena-Shokeir syndrome, type 1	Limb-girdle muscular dystrophy (LGMD)
GWAS		Alcohol consumption (drinks per week) ( 30679032 30643258 ) Alcohol use disorder (total score) ( 30336701 ) Alzheimer's disease or fasting glucose levels (pleiotropy) ( 30805717 ) Body fat distribution (arm fat ratio) ( 30664634 ) Body fat distribution (leg fat ratio) ( 30664634 ) Body fat distribution (trunk fat ratio) ( 30664634 ) Brain morphology (MOSTest) ( 32665545 ) Central corneal thickness ( 32528159 ) Diastolic blood pressure ( 27618452 28739976 ) Eosinophil count ( 32888494 ) Eosinophil percentage of white cells ( 32888494 ) Fruit consumption ( 32066663 ) General factor of neuroticism ( 30867560 ) Glaucoma (primary open-angle) ( 33627673 ) Global electrical heterogeneity phenotypes ( 29622589 ) Height ( 28552196 ) Intraocular pressure ( 29235454 29617998 25173106 ) Lacunar stroke ( 33773637 ) Loneliness ( 29970889 ) Loneliness (MTAG) ( 29970889 ) Mean corpuscular hemoglobin ( 32888494 27863252 ) Mean corpuscular volume ( 32888494 ) Mood instability ( 31168069 ) Neuroticism ( 29255261 ) Red cell distribution width ( 32888494 ) Refractive error ( 32231278 ) Sleep duration (short sleep) ( 30846698 ) Systolic blood pressure ( 27618452 28739976 ) Type 2 diabetes or prostate cancer (pleiotropy) ( 33290408 ) Waist circumference adjusted for body mass index ( 34021172 ) Waist-hip index ( 34021172 ) Waist-to-hip ratio adjusted for BMI ( 34021172 ) White blood cell count ( 29403010 )	A body shape index ( 34021172 ) Body mass index ( 26426971 ) Brain morphology (min-P) ( 32665545 ) Brain morphology (MOSTest) ( 32665545 ) Cortical surface area (MOSTest) ( 32665545 ) Crohn's disease ( 28067908 ) Estimated glomerular filtration rate ( 31152163 ) Extremely high intelligence ( 29520040 ) Gut microbiota (functional units) ( 27694959 ) Inflammatory bowel disease ( 28067908 ) Intelligence (MTAG) ( 29326435 ) Mood instability ( 31168069 ) Pediatric autoimmune diseases ( 26301688 ) Plateletcrit ( 32888494 ) Refractive error ( 32231278 ) Regular attendance at a religious group ( 29970889 ) Resting heart rate ( 27798624 ) Sleep duration (short sleep) ( 30846698 ) Subcortical volume (min-P) ( 32665545 ) Subcortical volume (MOSTest) ( 32665545 ) Ulcerative colitis ( 28067908 ) Waist circumference adjusted for body mass index ( 34021172 )
Interacting Genes		9 interacting genes: CHRNA4 CHRNB1 DAG1 GRB2 KHDRBS1 KLHL8 MUSK TRIM54 UBE2Z	26 interacting genes: AGR2 AGR3 AGRN BGN CAV1 CAV3 DMD DRP2 FYN GRB2 HMGB1 ITGB1 LAMA1 LAMA2 LAMA5 MAGI1 MAP2 NCK1 RAPSN SHC1 SRC TLN1 TUBA1A UTRN WWP1 WWP2
Entrez ID		5913	1605
HPRD ID		03353	00546
Ensembl ID		ENSG00000165917	ENSG00000173402
Uniprot IDs		A0A0S2Z4A2 A0A0S2Z4A6 A0A0S2Z4F8 A0A0S2Z4M9 Q13702	Q14118
PDB IDs		Not available	1EG4 2MK7 5GGP 5LLK 6JJY 7E9K 7E9L
GO Terms Enriched among Interactors		Acetylcholine Binding Behavioral Response To Nicotine Postsynaptic Membrane Acetylcholine Receptor Activity Acetylcholine-gated Monoatomic Cation-selective Channel Activity Acetylcholine-gated Channel Complex Schwann Cell Development Synaptic Transmission, Cholinergic Ligand-gated Monoatomic Ion Channel Activity Neuromuscular Synaptic Transmission Extracellular Ligand-gated Monoatomic Ion Channel Activity SH2 Domain Binding Acetylcholine Receptor Signaling Pathway Postsynaptic Signal Transduction Membrane Depolarization Excitatory Postsynaptic Potential Muscle Attachment Glial Cell Development Guanyl-nucleotide Exchange Factor Adaptor Activity Positive Regulation Of Protein Geranylgeranylation Grb2-Sos Complex Trans-synaptic Signaling Synaptic Signaling Neuromuscular Junction Synapse Calcium-dependent Cell-matrix Adhesion Myelination Axon Ensheathment Grb2-EGFR Complex Regulation Of Postsynaptic Membrane Potential SH3 Domain Binding Retrograde Trans-synaptic Signaling By Trans-synaptic Protein Complex Nerve Maturation Cell-cell Signaling Monoatomic Ion Channel Activity Signaling Adult Behavior Response To Denervation Involved In Regulation Of Muscle Adaptation Morphogenesis Of A Branching Structure Trans-synaptic Signaling By Trans-synaptic Complex Morphogenesis Of A Branching Epithelium Laminin-1 Binding Schwann Cell Differentiation Photoreceptor Ribbon Synapse Dystroglycan Complex Contractile Ring Antigen Receptor-mediated Signaling Pathway Neurotrophin TRKA Receptor Binding Positive Regulation Of RNA Export From Nucleus Cell Communication	Dystroglycan Binding Neuromuscular Junction Regulation Of Cell Adhesion Positive Regulation Of Cell Adhesion Ephrin Receptor Binding Sarcolemma Muscle Organ Development Muscle Structure Development Regulation Of Cellular Component Organization Integrin Binding Developmental Process Plasma Membrane Regulation Of Developmental Process Regulation Of Multicellular Organismal Development Membrane Raft Nitric-oxide Synthase Binding T Cell Costimulation Regulation Of Metal Ion Transport Positive Regulation Of Cell-cell Adhesion Vinculin Binding Extracellular Matrix Structural Constituent Regulation Of Cell Migration Symbiont Entry Into Host Cell Regulation Of Multicellular Organismal Process Cytoskeleton Organization Regulation Of Cell Motility Dystrophin-associated Glycoprotein Complex Signaling Receptor Binding Transmembrane Transporter Binding Regulation Of Monoatomic Ion Transport Regulation Of Locomotion Cell Surface Receptor Signaling Pathway Positive Regulation Of T Cell Activation Regulation Of Monoatomic Cation Transmembrane Transport Negative Regulation Of Anoikis Cell Projection Organization Animal Organ Development Positive Regulation Of Leukocyte Cell-cell Adhesion Cell Adhesion Biological Process Involved In Interaction With Host Receptor Internalization Plasma Membrane Bounded Cell Projection Organization Regulation Of Monoatomic Ion Transmembrane Transport Negative Regulation Of Potassium Ion Transmembrane Transport Regulation Of MAPK Cascade Signal Transduction Positive Regulation Of Cell Communication Positive Regulation Of Signaling Organelle Organization Regulation Of Anoikis