MUSK and SYNE1

Number of citations: 0 (PubMedID 10878022)
Data Source: HPRD (in vivo)

		MUSK	SYNE1
Name		muscle associated receptor tyrosine kinase	spectrin repeat containing nuclear envelope protein 1
Structure
GO Annotations	Cellular Component	Plasma Membrane Membrane Neuromuscular Junction Receptor Complex Synapse Postsynaptic Membrane	P-body Nucleus Nuclear Envelope Nuclear Outer Membrane Nucleoplasm Nucleolus Cytoplasm Golgi Apparatus Cytoskeleton Membrane Sarcomere Nuclear Membrane Meiotic Nuclear Membrane Microtubule Tethering Complex Postsynaptic 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	RNA Binding Actin Binding Protein Binding Lamin Binding Enzyme Binding Identical Protein Binding Protein Homodimerization Activity Actin Filament Binding Cytoskeleton-nuclear Membrane Anchor Activity
	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	Nucleus Organization Golgi Organization Spermatogenesis Cell Differentiation Muscle Cell Differentiation Nuclear Matrix Anchoring At Nuclear Membrane
Pathways		ECM proteoglycans	Meiotic synapsis
Drugs		Fostamatinib	None
Diseases		Congenital myasthenic syndrome	Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3) Emery-Dreifuss muscular dystrophy
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 )	Appendicular lean mass ( 33097823 ) Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) ( 23453885 ) Bipolar disorder ( 20351715 21738484 21926972 34002096 28072414 28115744 31043756 ) Bipolar disorder or major depressive disorder ( 20351715 ) Bipolar I disorder ( 31043756 ) Body mass index ( 26426971 ) Endometriosis ( 28537267 ) Femur bone mineral density x serum urate levels interaction ( 34046847 ) Heel bone mineral density ( 30598549 28869591 ) Hip circumference adjusted for BMI ( 34021172 ) Post bronchodilator FEV1 ( 26634245 ) Tonometry ( 17903302 ) Uterine fibroids ( 30194396 31249589 31649266 )
Interacting Genes		7 interacting genes: COLQ DOK7 ERBIN ILKAP RAPSN STYX SYNE1	28 interacting genes: ACTC1 APC BDKRB2 BTG3 CAPN1 CDC42 CDC5L CEP63 DISC1 DSCAM DSCR9 DTNBP1 ECPAS EMD ITSN1 LINC00839 LMNA MTDH MUSK MYOM1 NDEL1 PCNT SH3BP5 TNIK TP53RK USP21 USP7 XIAP
Entrez ID		4593	23345
HPRD ID		03190	09762
Ensembl ID		ENSG00000030304	ENSG00000131018
Uniprot IDs		A0A087WSY1 O15146	A0A0C4DG40 B4E3R1 B7Z9Y6 F8WAI0 Q8NF91
PDB IDs		8S9P	4DXR 6R15 6XF2
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	Antigen Processing And Presentation Of Endogenous Peptide Antigen Via MHC Class I Via ER Pathway, TAP-independent Antigen Processing And Presentation Of Endogenous Peptide Antigen Via MHC Class Ib Antigen Processing And Presentation Of Endogenous Peptide Antigen Via MHC Class I Antigen Processing And Presentation Of Endogenous Antigen Natural Killer Cell Lectin-like Receptor Binding Positive Regulation Of T Cell Mediated Cytotoxicity Antigen Processing And Presentation Of Peptide Antigen Via MHC Class I Regulation Of T Cell Mediated Cytotoxicity Signal Transduction Antigen Processing And Presentation Of Peptide Antigen Positive Regulation Of Leukocyte Mediated Cytotoxicity Regulation Of Postsynapse Organization Positive Regulation Of Cell Killing Positive Regulation Of T Cell Mediated Immunity Cytoskeleton Organization Regulation Of Synapse Organization Microtubule Organizing Center Molecular Adaptor Activity Regulation Of Leukocyte Mediated Cytotoxicity Radial Glia-guided Pyramidal Neuron Migration Antigen Processing And Presentation Centrosome Regulation Of T Cell Mediated Immunity Intracellular Signal Transduction Natural Killer Cell Mediated Cytotoxicity Negative Regulation Of Cell Cycle Natural Killer Cell Mediated Immunity Positive Regulation Of Plasma Membrane Bounded Cell Projection Assembly Positive Regulation Of Cell Projection Organization Negative Regulation Of Cyclin-dependent Protein Serine/threonine Kinase Activity Positive Regulation Of Adaptive Immune Response Based On Somatic Recombination Of Immune Receptors Built From Immunoglobulin Superfamily Domains Leading Edge Membrane Positive Regulation Of Lymphocyte Mediated Immunity Glutamatergic Synapse Regulation Of Dendritic Spine Development Positive Regulation Of Adaptive Immune Response Negative Regulation Of Cyclin-dependent Protein Kinase Activity Cytoskeleton Neuron Projection Morphogenesis Cytosol Wnt Signaling Pathway Positive Regulation Of Pseudopodium Assembly Cell Projection Morphogenesis Regulation Of Plasma Membrane Bounded Cell Projection Organization Leukocyte Mediated Cytotoxicity Regulation Of Cell Projection Organization Positive Regulation Of Cellular Component Organization Regulation Of Wnt Signaling Pathway Cerebral Cortex Radially Oriented Cell Migration Regulation Of Protein Localization