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 Trimer Collagen Type VI Trimer Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix Sarcolemma Extracellular Exosome Extracellular Vesicle	Extracellular Region Extracellular Space Nucleus Lysosome Lysosomal Membrane Endoplasmic Reticulum Golgi Apparatus Cytosol Synaptic Vesicle Membrane Axon Dendrite Synaptic Vesicle Membrane Neuronal Cell Body Lysosomal Lumen Membrane Raft Extracellular Exosome Presynaptic Cytosol
	Molecular Function	Serine-type Endopeptidase Inhibitor Activity Extracellular Matrix Structural Constituent Conferring Tensile Strength Peptidase Inhibitor Activity	Protein Binding Palmitoyl-(protein) Hydrolase Activity Hydrolase Activity Phospholipase A2 Inhibitor Activity Lysophosphatidic Acid Binding Long-chain Fatty Acyl-CoA Hydrolase Activity Palmitoyl Hydrolase Activity Sulfatide Binding
	Biological Process	Cell Adhesion Muscle Organ Development Response To UV Response To Glucose Phosphatidylinositol 3-kinase/protein Kinase B Signal Transduction Neuron Apoptotic Process	Protein Depalmitoylation Endocytosis Receptor-mediated Endocytosis Pinocytosis Lysosome Organization Lysosomal Lumen Acidification Neurotransmitter Secretion Nervous System Development Brain Development Visual Perception Grooming Behavior Associative Learning Adult Locomotory Behavior Macromolecule Catabolic Process Protein Transport Lipid Catabolic Process Sphingolipid Catabolic Process Protein Catabolic Process Negative Regulation Of Cell Growth Membrane Raft Organization Toll-like Receptor 9 Signaling Pathway Negative Regulation Of Toll-like Receptor 9 Signaling Pathway Negative Regulation Of Apoptotic Process Negative Regulation Of Neuron Apoptotic Process Fatty-acyl-CoA Biosynthetic Process Positive Regulation Of Receptor-mediated Endocytosis Positive Regulation Of Pinocytosis Neuron Development Regulation Of Synapse Structure Or Activity
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			Hexadecanesulfonyl 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	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) 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)
GWAS		Abstraction and mental flexibility ( 31596458) Aging (time to event) ( 21782286) Chronic kidney disease ( 30226566) Coronary artery disease ( 33020668 29212778 30402224) Cortex volume ( 31530798) HDL cholesterol ( 26160806) Heel bone mineral density ( 30598549) Height ( 33713608) Hypertension ( 30226566) Intraocular pressure ( 29617998 29235454) Ischemic stroke ( 29930801) LDL cholesterol ( 26160806) Lung cancer ( 28604730) Myocardial infarction ( 30226566) Pulse pressure ( 27841878)	Blood protein levels ( 30072576) Platelet count ( 32888494)
Interacting Genes		12 interacting genes: ALPG CDT1 DYSF GBX2 GFRA3 KCNJ13 MMP2 NGFR PPT1 SEPTIN2 SUDS3 TRIT1	5 interacting genes: COL6A3 EPS15 GNAQ LCOR RLF
Entrez ID		1293	5538
HPRD ID		00371	07203
Ensembl ID		ENSG00000163359	ENSG00000131238
Uniprot IDs		B7ZW00 D9ZGF2 P12111 Q8N4Z1	P50897 Q5T0S4
PDB IDs		1KNT 1KTH 1KUN 2KNT 6SNK	3GRO
Enriched GO Terms of Interacting Partners?
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