TRIT1 and COL6A3

		TRIT1	COL6A3
Description		tRNA isopentenyltransferase 1	collagen type VI alpha 3 chain
Image		No pdb structure
GO Annotations	Cellular Component	Cytoplasm Mitochondrion Mitochondrial Matrix	Extracellular Region Collagen Trimer Collagen Type VI Trimer Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix Sarcolemma Extracellular Exosome Extracellular Vesicle
	Molecular Function	Nucleotide Binding Nucleic Acid Binding Protein Binding ATP Binding Zinc Ion Binding Transferase Activity Metal Ion Binding TRNA Dimethylallyltransferase Activity	Serine-type Endopeptidase Inhibitor Activity Extracellular Matrix Structural Constituent Conferring Tensile Strength Peptidase Inhibitor Activity
	Biological Process	TRNA Modification TRNA Processing Mitochondrial TRNA Modification	Cell Adhesion Muscle Organ Development Response To UV Response To Glucose Phosphatidylinositol 3-kinase/protein Kinase B Signal Transduction Neuron Apoptotic Process
Pathways		tRNA modification in the nucleus and cytosol tRNA modification in the mitochondrion	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
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
GWAS		Refractive error ( 32231278)	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)
Interacting Genes		6 interacting genes: AKT1 ANKS1A HGH1 OGT SHE SMYD3	2 interacting genes: DYSF MMP2
Entrez ID		54802	1293
HPRD ID		18226	00371
Ensembl ID		ENSG00000043514	ENSG00000163359
Uniprot IDs		Q3T7C7 Q53F11 Q9H3H1	B7ZW00 D9ZGF2 P12111 Q8N4Z1
PDB IDs			1KNT 1KTH 1KUN 2KNT 6SNK
Enriched GO Terms of Interacting Partners?		Positive Regulation Of Proteolysis Carbohydrate Homeostasis Response To Rapamycin Positive Regulation Of Protein Localization To Endoplasmic Reticulum Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process Nitric-oxide Synthase Regulator Activity Glucose Homeostasis Regulation Of Proteasomal Protein Catabolic Process TOR Signaling Regulation Of Anaphase-promoting Complex-dependent Catabolic Process Negative Regulation Of SREBP Signaling Pathway Negative Regulation Of Protein Ubiquitination Response To Insulin-like Growth Factor Stimulus Cytoplasmic Translation Negative Regulation Of Fatty Acid Beta-oxidation Positive Regulation Of TORC2 Signaling TRNA Stabilization Negative Regulation Of Intrinsic Apoptotic Signaling Pathway In Response To Hydrogen Peroxide Regulation Of Protein Localization To Cell Periphery Potassium Channel Activator Activity Regulation Of Protein Ubiquitination Mammalian Oogenesis Stage RNA (guanine-N7)-methylation Response To UV Negative Regulation Of Translational Initiation Regulation Of Ubiquitin-dependent Protein Catabolic Process Regulation Of TORC1 Signaling Phosphatidylinositol-3,4,5-trisphosphate Binding Negative Regulation Of Fatty Acid Transport Regulation Of Type B Pancreatic Cell Development Negative Regulation Of Long-chain Fatty Acid Import Across Plasma Membrane Cellular Response To Peptide Regulation Of Glucose Metabolic Process Response To Hormone Beta-arrestin-dependent Dopamine Receptor Signaling Pathway Regulation Of TOR Signaling Maintenance Of Protein Location In Mitochondrion Negative Regulation Of Proteolysis Negative Regulation Of Translation TRNA (guanine-N7)-methylation Response To Ketone Activation-induced Cell Death Of T Cells Positive Regulation Of Translational Initiation Regulation Of Long-chain Fatty Acid Import Into Cell TORC2 Complex Binding Regulation Of Protein Localization To Membrane Response To Insulin Cellular Response To Rapamycin Positive Regulation Of Translation Peripheral Nervous System Myelin Maintenance
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