PPT1 and COL6A3

Data Source:
BioGRID (genetic interference)

		PPT1	COL6A3
Description		palmitoyl-protein thioesterase 1	collagen type VI alpha 3 chain
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GO Annotations	Cellular Component	Extracellular Region Nucleus Lysosome Golgi Apparatus Cytosol Synaptic Vesicle Membrane Axon Lysosomal Lumen Intracellular Membrane-bounded Organelle Membrane Raft Extracellular Exosome	Extracellular Region Collagen Type VI Trimer Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix Sarcolemma Collagen-containing Extracellular Matrix Extracellular Exosome Extracellular Vesicle
	Molecular Function	Protein Binding Palmitoyl-(protein) Hydrolase Activity Palmitoyl-CoA Hydrolase Activity Thiolester Hydrolase Activity Lysophosphatidic Acid Binding Sulfatide Binding	Serine-type Endopeptidase Inhibitor Activity Extracellular Matrix Structural Constituent Conferring Tensile Strength
	Biological Process	Protein Depalmitoylation Receptor-mediated Endocytosis Pinocytosis Lysosomal Lumen Acidification Nervous System Development Brain Development Visual Perception Protein Transport Lipid Catabolic Process Protein Phosphopantetheinylation Sphingolipid Catabolic Process Protein Catabolic Process Negative Regulation Of Cell Growth Membrane Raft Organization 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 Response To Stimulus	Cell Adhesion Muscle Organ Development Negative Regulation Of Endopeptidase Activity Extracellular Matrix Organization
Pathways		Fatty acyl-CoA biosynthesis	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
Drugs		Hexadecanesulfonyl fluoride Palmitic Acid
Diseases		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)	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
GWAS		Blood protein levels ( 30072576 29875488) Platelet count ( 32888494)	Abstraction and mental flexibility ( 31596458) Aging (time to event) ( 21782286) Chronic kidney disease ( 30226566) Coronary artery disease ( 29212778 30402224 33020668) Cortex volume ( 31530798) HDL cholesterol ( 26160806) Heel bone mineral density ( 30598549) Hypertension ( 30226566) Intraocular pressure ( 29617998 29235454) Ischemic stroke ( 29930801) LDL cholesterol ( 26160806) Lung cancer ( 28604730) Myocardial infarction ( 30226566) Pulse pressure ( 27841878)
Interacting Genes		1 interacting genes: GNAQ	2 interacting genes: DYSF MMP2
Entrez ID		5538	1293
HPRD ID		07203	00371
Ensembl ID		ENSG00000131238	ENSG00000163359
Uniprot IDs		P50897	B7ZW00 D9ZGF2 P12111 Q63HQ4 Q8N4Z1
PDB IDs		3GRO	1KNT 1KTH 1KUN 2KNT 6SNK
Enriched GO Terms of Interacting Partners?
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