MYOT

Description		myotilin
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GO Annotations	Cellular Component	Cytoplasm Cytoskeleton Plasma Membrane Actin Cytoskeleton Membrane Z Disc Axon Sarcolemma Neuronal Cell Body
	Molecular Function	Actin Binding Protein Binding Axon Guidance Receptor Activity Structural Constituent Of Muscle Alpha-actinin Binding
	Biological Process	Muscle Contraction Homophilic Cell Adhesion Via Plasma Membrane Adhesion Molecules Axon Guidance Synapse Organization
Pathways
Drugs
Diseases		Myofibrillar myopathies (MFM), including: Desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Myotilinopathy (MFM3); Zaspopathy (MFM4); Filaminopathy (MFM5); Bag3opathy Limb-girdle muscular dystrophy (LGMD) Distal muscular dystrophies, including: Welander distal myopathy (WDM); Tibial muscular dystrophy (TMD); Nonaka distal myopathy with rimmed vacuoles (DMRV); Miyoshi myopathy (MM); Laing myopathy (MPD1); Distal nebulin myopathy (DNM); Distal desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Distal myotilinopathy (MFM3); Distal zaspopathy (MFM4); Distal myopathy 3 (MPD2, VCPDM)
GWAS		Atrial fibrillation ( 30061737) Heart rate ( 23583979) Severe malaria ( 29381699) Severe malaria (adjusted for sickle cell variant rs334) ( 29381699)
Interacting Genes		17 interacting genes: ACTN1 ACTN2 ACTN3 APP AXIN1 DOCK9 FLNA FLNC GPRASP2 LRP12 NME7 PDLIM3 PFDN5 ST7 TFG TRIM55 TRIM63
Entrez ID		9499
HPRD ID		04981
Ensembl ID		ENSG00000120729
Uniprot IDs		A0A0C4DFM5 B4DT68 Q9UBF9
PDB IDs		2KDG 2KKQ
Enriched GO Terms of Interacting Partners?		Z Disc Integrin Binding Cytoskeletal Protein Binding Pseudopodium Actin Cytoskeleton Organization Actin Filament Binding Actin Binding Actin Filament Actin Filament-based Process Muscle Cell Development Focal Adhesion Assembly Actin Cytoskeleton Cell-substrate Junction Assembly Transmembrane Transporter Binding Cell-substrate Junction Organization Skeletal Muscle Atrophy Structural Constituent Of Muscle Cell Development Cortical Actin Cytoskeleton Cellular Component Assembly Regulation Of Glycolytic Process Skeletal Muscle Adaptation Striated Muscle Atrophy Sarcomere Cytoskeleton Organization Regulation Of Supramolecular Fiber Organization Platelet Alpha Granule Lumen Muscle Atrophy Regulation Of Carbohydrate Catabolic Process Focal Adhesion G Protein-coupled Receptor Binding Regulation Of ATP Metabolic Process Titin Binding Regulation Of Purine Nucleotide Metabolic Process Supramolecular Fiber Organization Identical Protein Binding Regulation Of Amyloid Fibril Formation Cytosol Negative Regulation Of Glycolytic Process Protein Serine/threonine Kinase Binding Organelle Organization Negative Regulation Of ATP Metabolic Process Regulation Of Generation Of Precursor Metabolites And Energy Negative Regulation Of Canonical Wnt Signaling Pathway Positive Regulation Of Potassium Ion Transport Cytoplasm Positive Regulation Of Supramolecular Fiber Organization Negative Regulation Of Wnt Signaling Pathway Sarcomere Organization Dendritic Shaft
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