HCFC2 and COL6A1

		HCFC2	COL6A1
Description		host cell factor C2	collagen type VI alpha 1 chain
Image		No pdb structure	No pdb structure
GO Annotations	Cellular Component	Nucleus Nucleoplasm Cytoplasm Cytosol Plasma Membrane Histone Methyltransferase Complex MLL1/2 Complex Set1C/COMPASS Complex MLL1 Complex	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
	Molecular Function	Transcription Coregulator Activity Transcription Coactivator Activity Protein Binding	Protein Binding Collagen Binding Extracellular Matrix Structural Constituent Conferring Tensile Strength Platelet-derived Growth Factor Binding
	Biological Process	Negative Regulation Of Transcription By RNA Polymerase II Chromatin Remodeling Regulation Of DNA-templated Transcription Regulation Of Transcription By RNA Polymerase II Viral Process Regulation Of Toll-like Receptor 3 Signaling Pathway Positive Regulation Of DNA-templated Transcription Antiviral Innate Immune Response Immune Response Involved In Response To Exogenous DsRNA	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
Pathways		Formation of WDR5-containing histone-modifying complexes	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 Ossification of the posterior longitudinal ligament of spine (OPLL)
GWAS		PR interval ( 32439900)	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		4 interacting genes: CKAP4 COL6A1 GRSF1 KMT2A	29 interacting genes: ALDH3A2 BGN CFAP410 COL18A1 COL2A1 COL6A2 CSTB DCN DNAJB11 FAM3B FGF7 HCFC2 ITGAV LAMB1 LCMT2 LGALS3BP MAG MLLT3 MPRIP MTDH PCNT PDGFA PDGFB PDK1 PEX26 PIGS RUNX1 TGM2 THBS1
Entrez ID		29915	1291
HPRD ID		06393	00370
Ensembl ID		ENSG00000111727	ENSG00000142156
Uniprot IDs		Q9Y5Z7	A0A384P5H7 P12109
PDB IDs
Enriched GO Terms of Interacting Partners?		Membrane Depolarization Response To Bleomycin Collagen Type VI Trimer Apoptotic Nuclear Changes Rhythmic Process Regulation Of Collagen Fibril Organization 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 Caveola Assembly Response To Light Stimulus Circadian Rhythm Homeostasis Of Number Of Cells Endoplasmic Reticulum Lumen Fat Cell Proliferation G-quadruplex RNA Binding Anterior/posterior Pattern Specification Mitochondrial RNA Catabolic Process Positive Regulation Of Mitochondrial RNA Catabolic Process Regionalization T-helper 2 Cell Differentiation Unmethylated CpG Binding Negative Regulation Of DNA Methylation-dependent Heterochromatin Formation Protein-cysteine Methyltransferase Activity MLL1/2 Complex Negative Regulation Of Heterochromatin Formation Histone H3K4 Monomethyltransferase Activity Histone H3K4 Trimethyltransferase Activity Minor Groove Of Adenine-thymine-rich DNA Binding Regulation Of Heterochromatin Formation Lamellar Body Plasma Membrane Raft Assembly Nucleobase-containing Compound Catabolic Process Platelet-derived Growth Factor Binding Mitochondrion Membrane Raft Assembly Plasma Membrane Raft Organization Pattern Specification Process Regulation Of Short-term Neuronal Synaptic Plasticity Ribonucleoprotein Granule Histone H3K4 Methyltransferase Activity Regulation Of Membrane Potential Response To Radiation 2-oxoglutarate Metabolic Process Definitive Hemopoiesis	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
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