COL6A3 and PPT1

		COL6A3	PPT1
Description		collagen type VI alpha 3 chain	palmitoyl-protein thioesterase 1
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GO Annotations	Cellular Component	Extracellular Region Collagen Type VI Trimer Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix Sarcolemma Collagen-containing Extracellular Matrix Extracellular Exosome Extracellular Vesicle	Extracellular Region Cell Nucleus Lysosome Golgi Apparatus Cytosol Synaptic Vesicle Membrane Axon Dendrite Neuronal Cell Body Lysosomal Lumen Intracellular Membrane-bounded Organelle Membrane Raft Extracellular Exosome
	Molecular Function	Serine-type Endopeptidase Inhibitor Activity Extracellular Matrix Structural Constituent Conferring Tensile Strength	Protein Binding Palmitoyl-(protein) Hydrolase Activity Palmitoyl-CoA Hydrolase Activity Thiolester Hydrolase Activity Lysophosphatidic Acid Binding Sulfatide Binding
	Biological Process	Growth Plate Cartilage Chondrocyte Morphogenesis Cell Adhesion Muscle Organ Development Negative Regulation Of Endopeptidase Activity Extracellular Matrix Organization	Protein Depalmitoylation Receptor-mediated Endocytosis Pinocytosis Lysosomal Lumen Acidification Neurotransmitter Secretion Nervous System Development Brain Development Visual Perception Grooming Behavior Associative Learning Adult Locomotory Behavior Protein Transport Lipid Catabolic Process Sphingolipid Catabolic Process Protein Catabolic Process Negative Regulation Of Cell Growth Membrane Raft Organization Regulation Of Phospholipase A2 Activity Negative Regulation Of Apoptotic Process Negative Regulation Of Neuron Apoptotic Process Cellular Protein Catabolic Process Fatty-acyl-CoA Biosynthetic Process Positive Regulation Of Receptor-mediated Endocytosis Positive Regulation Of Pinocytosis Neuron Development Regulation Of Synapse Structure Or Activity Response To Stimulus Cofactor Transport Cofactor Metabolic Process
Pathways		Collagen degradation Collagen biosynthesis and modifying enzymes Signaling by PDGF Assembly of collagen fibrils and other multimeric structures Integrin cell surface interactions ECM proteoglycans ECM proteoglycans NCAM1 interactions Collagen chain trimerization	Fatty acyl-CoA biosynthesis
Drugs			1-Hexadecylsulfonyl Fluoride Palmitic Acid
Diseases		Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy	Neuronal ceroid lipofuscinosis, including: Infantile Neuronal Ceroid Lipofuscinosis (INCL)/ Santavuori-Haltia Disease (CLN1); Late-Infantile Neuronal Ceroid Lipofuscinosis (LINCL)/ Jansky-Bielschowsky Disease (CLN2); Juvenile Neuronal Ceroid Lipofuscinosis (JNCL)/Batten Disease/ Spielmeyer-Vogt Disease (CLN3); Adult Neuronal Ceroid Lipofuscinosis (ANCL)/ Kufs Disease (CLN4); LINCL variant (CLN5, CLN6, CLN7, CLN8); Batten Disease variant (CLN9); Congenital NCL (CLN10) Progressive myoclonic epilepsy (PME), including: Lafora disease (LBD); Unverricht-Lundborg disease (ULD); Neuronal ceroid lipofuscinoses (NCL); Type I sialidosis; Action myoclonus-renal failure syndrome (AMRF); Type III Gaucher disease (GD)
GWAS		Abstraction and mental flexibility ( 31596458) Aging (time to event) ( 21782286) Coronary artery disease ( 29212778) Cortex volume ( 31530798) HDL cholesterol ( 26160806) Heel bone mineral density ( 30598549) Intraocular pressure ( 29617998 29235454) LDL cholesterol ( 26160806) Lung cancer ( 28604730) Pulse pressure ( 27841878)	Blood protein levels ( 30072576 29875488)
Interacting Genes		2 interacting genes: MMP2 PPT1	4 interacting genes: COL6A3 EPS15 GNAQ RLF
Entrez ID		1293	5538
HPRD ID		00371	07203
Ensembl ID		ENSG00000163359	ENSG00000131238
Uniprot IDs		B7ZW00 D9ZGF2 P12111 Q63HQ4 Q8N4Z1	P50897
PDB IDs		1KNT 1KTH 1KUN 2KNT	3GRO
Enriched GO Terms of Interacting Partners?
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