MUSK and RAPSN

Number of citations: 63 (PubMedID 10477765)
Data Source: HPRD (in vivo)

		MUSK	RAPSN
Name		muscle associated receptor tyrosine kinase	receptor associated protein of the synapse
Structure			No pdb structure
GO Annotations	Cellular Component	Plasma Membrane Membrane Neuromuscular Junction Receptor Complex Synapse Postsynaptic Membrane	Cytoplasm Golgi Apparatus Centrosome Cytosol Cytoskeleton Plasma Membrane Membrane Neuromuscular Junction Synapse Postsynaptic Membrane Postsynaptic Specialization Membrane
	Molecular Function	Nucleotide Binding Protein Kinase Activity Protein Tyrosine Kinase Activity Transmembrane Receptor Protein Tyrosine Kinase Activity Protein Binding ATP Binding Kinase Activity Transferase Activity Wnt-protein Binding Metal Ion Binding	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
	Biological Process	Positive Regulation Of Protein Phosphorylation Cell Surface Receptor Protein Tyrosine Kinase Signaling Pathway Neuromuscular Junction Development Memory Regulation Of Synaptic Assembly At Neuromuscular Junction Positive Regulation Of Macromolecule Metabolic Process Positive Regulation Of Gene Expression Cell Differentiation Skeletal Muscle Acetylcholine-gated Channel Clustering Positive Regulation Of Protein Geranylgeranylation	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
Pathways		ECM proteoglycans	None
Drugs		Fostamatinib	None
Diseases		Congenital myasthenic syndrome	Congenital myasthenic syndrome Fetal akinesia deformation sequence (FADS); Pena-Shokeir syndrome, type 1
GWAS		Body mass index ( 28552196 ) Heel bone mineral density ( 30598549 ) Metabolite levels ( 23823483 ) Orofacial cleft x maternal periconceptional smoking interaction (1df) ( 33937227 ) Plasma factor V levels in venous thrombosis (conditioned on rs6027) ( 31271701 ) Pulmonary function decline ( 22424883 ) Type 2 diabetes (dietary heme iron intake interaction) ( 23386860 )	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 )
Interacting Genes		7 interacting genes: COLQ DOK7 ERBIN ILKAP RAPSN STYX SYNE1	9 interacting genes: CHRNA4 CHRNB1 DAG1 GRB2 KHDRBS1 KLHL8 MUSK TRIM54 UBE2Z
Entrez ID		4593	5913
HPRD ID		03190	03353
Ensembl ID		ENSG00000030304	ENSG00000165917
Uniprot IDs		A0A087WSY1 O15146	A0A0S2Z4A2 A0A0S2Z4A6 A0A0S2Z4F8 A0A0S2Z4M9 Q13702
PDB IDs		8S9P	Not available
GO Terms Enriched among Interactors		Neuromuscular Junction Receptor Clustering Skeletal Muscle Acetylcholine-gated Channel Clustering Neuromuscular Junction Development Postsynaptic Membrane Protein Localization To Membrane Regulation Of Postsynaptic Membrane Neurotransmitter Receptor Levels Negative Regulation Of SCF-dependent Proteasomal Ubiquitin-dependent Catabolic Process Structural Constituent Of Postsynaptic Specialization Positive Regulation Of Motor Neuron Apoptotic Process Pseudophosphatase Activity Acetylcholine Catabolic Process In Synaptic Cleft Basement Membrane Basal Protein Localization Localization Within Membrane Positive Regulation Of Neuromuscular Synaptic Transmission F-box Domain Binding Acetylcholine Catabolic Process Nuclear Matrix Anchoring At Nuclear Membrane ErbB-2 Class Receptor Binding Regulation Of Postsynaptic Membrane Organization Nuclear Matrix Organization Negative Regulation Of Nucleotide-binding Oligomerization Domain Containing 2 Signaling Pathway Cytoskeleton-nuclear Membrane Anchor Activity Negative Regulation Of Monocyte Chemotactic Protein-1 Production Cell Junction Establishment Of Protein Localization To Membrane Intracellular Protein Localization Hemidesmosome Positive Regulation Of Skeletal Muscle Acetylcholine-gated Channel Clustering Regulation Of Skeletal Muscle Acetylcholine-gated Channel Clustering Positive Regulation Of Protein Tyrosine Kinase Activity Maintenance Of Postsynaptic Specialization Structure Regulation Of Synaptic Assembly At Neuromuscular Junction Meiotic Nuclear Membrane Microtubule Tethering Complex Establishment Of Protein Localization To Postsynaptic Membrane Synapse Organization Postsynaptic Specialization Synapse Nuclear Membrane Positive Regulation Of Receptor Clustering Acetylcholine Receptor Binding Regulation Of Motor Neuron Apoptotic Process Motor Neuron Apoptotic Process Regulation Of Nucleotide-binding Domain, Leucine Rich Repeat Containing Receptor Signaling Pathway Cation Binding Lamin Binding Regulation Of Receptor Clustering Positive Regulation Of Rac Protein Signal Transduction Neurotransmitter Receptor Localization To Postsynaptic Specialization Membrane	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