SYNE1 and MUSK

Data Source:
HPRD (in vivo)

		SYNE1	MUSK
Description		spectrin repeat containing nuclear envelope protein 1	muscle associated receptor tyrosine kinase
Image			No pdb structure
GO Annotations	Cellular Component	P-body Nucleus Nuclear Envelope Nuclear Outer Membrane Nucleoplasm Nucleolus Cytoplasm Golgi Apparatus Cytoskeleton Integral Component Of Membrane Sarcomere Nuclear Membrane Meiotic Nuclear Membrane Microtubule Tethering Complex Postsynaptic Membrane	Integral Component Of Plasma Membrane Neuromuscular Junction Receptor Complex Postsynaptic Membrane
	Molecular Function	RNA Binding Actin Binding Protein Binding Lamin Binding Enzyme Binding Protein Homodimerization Activity Actin Filament Binding Cytoskeleton-nuclear Membrane Anchor Activity	Protein Tyrosine Kinase Activity Transmembrane Receptor Protein Tyrosine Kinase Activity Protein Binding Collagen Binding ATP Binding Protein Tyrosine Kinase Collagen Receptor Activity Metal Ion Binding
	Biological Process	Nucleus Organization Golgi Organization Spermatogenesis Muscle Cell Differentiation Nuclear Matrix Anchoring At Nuclear Membrane	Positive Regulation Of Protein Phosphorylation Transmembrane Receptor Protein Tyrosine Kinase Signaling Pathway Multicellular Organism Development Neuromuscular Junction Development Memory Regulation Of Synaptic Growth At Neuromuscular Junction Positive Regulation Of Gene Expression Peptidyl-tyrosine Phosphorylation Cell Differentiation Positive Regulation Of Kinase Activity Collagen-activated Tyrosine Kinase Receptor Signaling Pathway Protein Autophosphorylation Skeletal Muscle Acetylcholine-gated Channel Clustering Positive Regulation Of Protein Geranylgeranylation
Pathways		Meiotic synapsis	ECM proteoglycans
Drugs			Fostamatinib
Diseases		Emery-Dreifuss muscular dystrophy Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)	Congenital myasthenic syndrome
GWAS		Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) ( 23453885) Bipolar disorder ( 28115744 21926972 31043756 28072414 20351715 21738484) Bipolar disorder or major depressive disorder ( 20351715) Bipolar I disorder ( 31043756) Body mass index ( 26426971) Endometriosis ( 28537267) Heel bone mineral density ( 30598549 28869591) Post bronchodilator FEV1 ( 26634245) Tonometry ( 17903302) Uterine fibroids ( 31249589 30194396 31649266)	Body mass index ( 28552196) Heel bone mineral density ( 30598549) Metabolite levels ( 23823483) Plasma factor V levels in venous thrombosis (conditioned on rs6027) ( 31271701) Pulmonary function decline ( 22424883) Type 2 diabetes (dietary heme iron intake interaction) ( 23386860)
Interacting Genes		21 interacting genes: ACTC1 APC BDKRB2 CAPN1 CDC42 CDC5L CEP63 DISC1 DTNBP1 ECPAS EMD LINC00839 LMNA MTDH MUSK MYOM1 NDEL1 SH3BP5 TNIK TP53RK USP21	7 interacting genes: COLQ DOK7 ERBIN ILKAP RAPSN STYX SYNE1
Entrez ID		23345	4593
HPRD ID		09762	03190
Ensembl ID		ENSG00000131018	ENSG00000030304
Uniprot IDs		A0A0C4DG40 B4E3R1 B7Z9Y6 F8WAI0 Q8NF91	A0A087WSY1 O15146
PDB IDs		4DXR 6R15
Enriched GO Terms of Interacting Partners?
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