COL6A1 and PDK1

		COL6A1	PDK1
Description		collagen type VI alpha 1 chain	pyruvate dehydrogenase kinase 1
Image		No pdb structure
GO Annotations	Cellular Component	Extracellular Region Collagen Trimer Collagen Type VI Trimer Basement Membrane Mitochondrion Lysosome Lysosomal Membrane Endoplasmic Reticulum Endoplasmic Reticulum Lumen Membrane Sarcoplasmic Reticulum Myofibril Extracellular Matrix Protein-containing Complex Sarcolemma Extracellular Exosome Intracellular Vesicle	Mitochondrion Mitochondrial Matrix Pyruvate Dehydrogenase Complex
	Molecular Function	Protein Binding Collagen Binding Extracellular Matrix Structural Constituent Conferring Tensile Strength Platelet-derived Growth Factor Binding	Nucleotide Binding Protein Kinase Activity Pyruvate Dehydrogenase (acetyl-transferring) Kinase Activity Protein Binding ATP Binding Kinase Activity Transferase Activity
	Biological Process	Response To Reactive Oxygen Species Cell Morphogenesis Ossification Osteoblast Differentiation Hair Follicle Development Reduction Of Food Intake In Response To Dietary Excess Muscle System Process Respiratory System Process Glycolytic Process Tricarboxylic Acid Cycle 2-oxoglutarate Metabolic Process Energy Reserve Metabolic Process Autophagy Apoptotic Process Inflammatory Response Mitochondrion Organization Cell Adhesion Single Fertilization Peripheral Nervous System Development Heart Development Muscle Organ Development Skeletal Muscle Tissue Development Circadian Rhythm Insulin Receptor Signaling Pathway Regulation Of Cell Size Response To Xenobiotic Stimulus Response To UV Response To Wounding Response To Mechanical Stimulus Response To Toxic Substance Anatomical Structure Morphogenesis Tissue Development Gene Expression Muscle Cell Apoptotic Process Response To Activity Response To Muscle Activity Transmission Of Nerve Impulse Myelination In Peripheral Nervous System Cell Differentiation Collagen Fibril Organization Apoptotic Nuclear Changes Bone Mineralization Lung Development Response To Lipopolysaccharide Collagen Metabolic Process Response To Lipid Endodermal Cell Differentiation Limb Joint Morphogenesis Response To Decreased Oxygen Levels Skeletal Muscle Tissue Regeneration Phosphatidylinositol 3-kinase/protein Kinase B Signal Transduction Skin Development Insulin-like Growth Factor Receptor Signaling Pathway Response To Pain Lung Alveolus Development Skeletal Muscle Tissue Growth Skeletal Muscle Fiber Development Tissue Remodeling Homeostasis Of Number Of Cells Nervous System Process Sensory Perception Of Mechanical Stimulus Cartilage Development Protein Tetramerization Neuron Apoptotic Process Mitochondrial Depolarization Muscle Cell Development Uterus Development Canonical Wnt Signaling Pathway Bone Development Lung Morphogenesis Lung Epithelial Cell Differentiation Skeletal Muscle Organ Development Adipose Tissue Development Muscle Structure Development Fat Cell Proliferation Caveola Assembly Cellular Response To Amino Acid Stimulus Basement Membrane Organization Multicellular Organismal Locomotion Reactive Oxygen Species Metabolic Process Extracellular Matrix Assembly Energy Homeostasis Skeletal Muscle Fiber Differentiation Response To Peptide Regulation Of Collagen Fibril Organization Response To Polyamine Macromolecule Response To Bleomycin Mitochondrial Transmembrane Transport	Glucose Metabolic Process Cell Population Proliferation Intrinsic Apoptotic Signaling Pathway In Response To Oxidative Stress Regulation Of Pyruvate Decarboxylation To Acetyl-CoA Regulation Of Glucose Metabolic Process Cellular Response To Stress Hypoxia-inducible Factor-1alpha Signaling Pathway
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	Regulation of pyruvate dehydrogenase (PDH) complex Signaling by Retinoic Acid Mitochondrial protein degradation
Drugs			4-[(3-CHLORO-4-{[(2R)-3,3,3-TRIFLUORO-2-HYDROXY-2-METHYLPROPANOYL]AMINO}PHENYL)SULFONYL]-N,N-DIMETHYLBENZAMIDE Dichloroacetic 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 Ossification of the posterior longitudinal ligament of spine (OPLL)
GWAS		Blood protein levels ( 30072576) Bone mineral density (lumbar spine) in inflammatory bowel disease ( 29603369) Corneal hysteresis ( 30894546 32716492) Corneal resistance factor ( 32716492 30894546 31246245) Daytime nap ( 33568662) Diverticular disease ( 30177863) Intraocular pressure ( 29235454 29617998) Keratoconus ( 33649486) Low myopia ( 33830181) Myopia ( 27182965) Pulse pressure ( 30578418 30224653) Refractive error ( 32231278) Spherical equivalent or myopia (age of diagnosis) ( 29808027) Systolic blood pressure ( 28234671) Waist circumference adjusted for body mass index ( 25673412 34021172)	Erectile dysfunction in type 1 diabetes ( 22704111) Fasting plasma glucose ( 25187374)
Interacting Genes		15 interacting genes: BGN COL18A1 COL2A1 DCN DNAJB11 FGF7 ITGAV LAMB1 LGALS3BP MAG MTDH PDGFA PDGFB TGM2 THBS1	16 interacting genes: AKT1 BIN1 DLAT FGFR1 ITGB3 KAT2B LAMTOR5 PDHA1 PDK2 PIK3CA RPS6KB1 SGK1 UBE2O USP4 XRCC6 YWHAQ
Entrez ID		1291	5163
HPRD ID		00370	03954
Ensembl ID		ENSG00000142156	ENSG00000152256
Uniprot IDs		A0A384P5H7 P12109	B7Z207 B7Z7N6 Q15118
PDB IDs			2Q8F 2Q8G 2Q8H
Enriched GO Terms of Interacting Partners?		Extracellular Matrix Extracellular Space Endoplasmic Reticulum Lumen Extracellular Matrix Binding Platelet-derived Growth Factor Binding Extracellular Region Platelet-derived Growth Factor Complex Negative Regulation Of Phosphatidylinositol Biosynthetic Process Bone Development Regulation Of Anatomical Structure Morphogenesis Positive Regulation Of Metanephric Mesenchymal Cell Migration Positive Regulation Of Metanephric Mesenchymal Cell Migration By Platelet-derived Growth Factor Receptor-beta Signaling Pathway Golgi Lumen Positive Regulation Of Phosphatidylinositol 3-kinase/protein Kinase B Signal Transduction Negative Regulation Of Phospholipid Biosynthetic Process Extracellular Matrix Structural Constituent Conferring Tensile Strength Extracellular Matrix Structural Constituent Anatomical Structure Formation Involved In Morphogenesis Positive Regulation Of Protein Autophosphorylation Regulation Of Developmental Process Regulation Of Branching Involved In Salivary Gland Morphogenesis Platelet-derived Growth Factor Receptor-beta Signaling Pathway Protein Homodimerization Activity Regulation Of Phosphatidylinositol 3-kinase/protein Kinase B Signal Transduction Angiogenesis Regulation Of Glomerular Mesangial Cell Proliferation Extracellular Matrix Structural Constituent Conferring Compression Resistance Regulation Of Vasculature Development Regulation Of Angiogenesis Positive Regulation Of Angiogenesis Proteoglycan Binding Collagen Binding Positive Regulation Of Signal Transduction Branching Involved In Salivary Gland Morphogenesis Regulation Of Cell Division Platelet Alpha Granule Lumen Regulation Of Protein Autophosphorylation Regulation Of Blood Coagulation Positive Regulation Of Vasculature Development Platelet-derived Growth Factor Receptor Binding Regulation Of Hemostasis Collagen Trimer Positive Regulation Of Cell Migration Extracellular Exosome Positive Regulation Of Cell Motility Regulation Of Plasminogen Activation Response To Wounding Positive Regulation Of Locomotion Regulation Of Phospholipid Biosynthetic Process Negative Regulation Of Platelet Activation	Glucose Metabolic Process Monosaccharide Metabolic Process Hexose Metabolic Process Positive Regulation Of TOR Signaling Insulin Receptor Signaling Pathway Pyruvate Dehydrogenase Complex Carbohydrate Metabolic Process Cell Surface Receptor Protein Tyrosine Kinase Signaling Pathway Regulation Of TOR Signaling Positive Regulation Of TORC1 Signaling TORC1 Signaling Cellular Response To Hormone Stimulus Cellular Response To Peptide Hormone Stimulus TOR Signaling Intracellular Signal Transduction Enzyme-linked Receptor Protein Signaling Pathway Phosphatidylinositol 3-kinase/protein Kinase B Signal Transduction Phosphatidylinositol-mediated Signaling Regulation Of TORC1 Signaling Cellular Response To Insulin Stimulus Protein Serine/threonine/tyrosine Kinase Activity Regulation Of Programmed Cell Death Tricarboxylic Acid Cycle Cellular Response To Nutrient Levels Insulin-like Growth Factor Receptor Signaling Pathway Protein-containing Complex Cellular Response To Nutrient Response To Peptide Hormone Cellular Response To Oxygen-containing Compound Transferase Activity Regulation Of Smooth Muscle Cell Proliferation Positive Regulation Of Translational Initiation Response To Hormone Phosphate-containing Compound Metabolic Process Response To Insulin Kinase Activity Pyruvate Decarboxylation To Acetyl-CoA ATP Binding Regulation Of Apoptotic Process Small Molecule Metabolic Process Negative Regulation Of TORC1 Signaling Regulation Of Intracellular Signal Transduction Pyruvate Metabolic Process Regulation Of Biological Quality Organic Acid Metabolic Process Response To Ketone Anoikis Positive Regulation Of Intracellular Signal Transduction Response To Activity Positive Regulation Of Signal Transduction
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