COL6A1 and ALDH3A2

		COL6A1	ALDH3A2
Description		collagen type VI alpha 1 chain	aldehyde dehydrogenase 3 family member A2
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	Cytoplasm Peroxisome Peroxisomal Membrane Endoplasmic Reticulum Endoplasmic Reticulum Membrane Cytosol Membrane Intracellular Membrane-bounded Organelle
	Molecular Function	Protein Binding Collagen Binding Extracellular Matrix Structural Constituent Conferring Tensile Strength Platelet-derived Growth Factor Binding	3-chloroallyl Aldehyde Dehydrogenase Activity Aldehyde Dehydrogenase (NAD+) Activity Protein Binding Oxidoreductase Activity Oxidoreductase Activity, Acting On The Aldehyde Or Oxo Group Of Donors, NAD Or NADP As Acceptor Protein Homodimerization Activity Long-chain-alcohol Oxidase Activity Long-chain Fatty Aldehyde Dehydrogenase (NAD+) Activity Medium-chain Fatty Aldehyde Dehydrogenase (NAD+) Activity Fatty Aldehyde Dehydrogenase (NAD+) 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	Aldehyde Metabolic Process Lipid Metabolic Process Fatty Acid Metabolic Process Sesquiterpenoid Metabolic Process Central Nervous System Development Peripheral Nervous System Development Epidermis Development Phytol Metabolic Process Hexadecanal 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	RND2 GTPase cycle RND1 GTPase cycle
Drugs			NADH
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)	Sjogren-Larsson syndrome
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)
Interacting Genes		15 interacting genes: BGN COL18A1 COL2A1 DCN DNAJB11 FGF7 ITGAV LAMB1 LGALS3BP MAG MTDH PDGFA PDGFB TGM2 THBS1
Entrez ID		1291	224
HPRD ID		00370	07188
Ensembl ID		ENSG00000142156	ENSG00000072210
Uniprot IDs		A0A384P5H7 P12109	P51648
PDB IDs			4QGK
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	Canonical Wnt Signaling Pathway Response To Bleomycin Wnt Signaling Pathway Collagen Type VI Trimer Apoptotic Nuclear Changes Skeletal Muscle Tissue Growth Limb Joint Morphogenesis Mitochondrial Depolarization Multicellular Organismal Locomotion Skeletal Muscle Fiber Differentiation Response To Polyamine Macromolecule Reduction Of Food Intake In Response To Dietary Excess Cellular Component Disassembly Involved In Execution Phase Of Apoptosis Fat Cell Proliferation Radial Glia-guided Pyramidal Neuron Migration Pyramidal Neuron Migration To Cerebral Cortex Cerebral Cortex Radial Glia-guided Migration Central Region Of Growth Cone Regulation Of Collagen Fibril Organization Caveola Assembly Plasma Membrane Raft Assembly Platelet-derived Growth Factor Binding Skeletal Muscle Fiber Development Lung Epithelial Cell Differentiation Membrane Raft Organization Transmission Of Nerve Impulse Response To Pain Intracellular Vesicle Eating Behavior Peripheral Nervous System Development Skeletal Muscle Organ Development Skeletal Muscle Tissue Regeneration Membrane Raft Assembly Plasma Membrane Raft Organization Tricarboxylic Acid Cycle Myotube Differentiation Respiratory System Process Uterus Development System Development Lung Cell Differentiation 2-oxoglutarate Metabolic Process Cell Population Proliferation Muscle Cell Apoptotic Process Mitochondrial Transmembrane Transport Response To Muscle Activity Lung Morphogenesis Myelination In Peripheral Nervous System Extracellular Matrix Assembly Positive Regulation Of Neuroblast Proliferation Detection Of Temperature Stimulus
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