COL6A1

Description		collagen type VI alpha 1 chain
Image		No pdb structure
GO Annotations	Cellular Component	Extracellular Region Collagen Type VI Trimer Extracellular Space Lysosomal Membrane Endoplasmic Reticulum Lumen Membrane Extracellular Matrix Protein-containing Complex Sarcolemma Collagen-containing Extracellular Matrix Extracellular Exosome
	Molecular Function	Collagen Binding Extracellular Matrix Structural Constituent Conferring Tensile Strength Platelet-derived Growth Factor Binding
	Biological Process	Osteoblast Differentiation Growth Plate Cartilage Chondrocyte Morphogenesis Cell Adhesion Extracellular Matrix Organization Endodermal Cell Differentiation Cellular Response To Amino Acid Stimulus
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
Drugs
Diseases		Ossification of the posterior longitudinal ligament of spine (OPLL) 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) Bone mineral density (lumbar spine) in inflammatory bowel disease ( 29603369) Corneal hysteresis ( 30894546) Corneal resistance factor ( 31246245 30894546) Diverticular disease ( 30177863) Intraocular pressure ( 29617998 29235454) Myopia ( 27182965) Pulse pressure ( 30224653 30578418) Spherical equivalent or myopia (age of diagnosis) ( 29808027) Systolic blood pressure ( 28234671) Waist circumference adjusted for body mass index ( 25673412)
Interacting Genes		24 interacting genes: ALDH3A2 CFAP410 COL2A1 COL6A2 CSTB DCN DNAJB11 FAM3B FGF7 HCFC2 LAMB1 LCMT2 LGALS3BP MAG MLLT3 MPRIP MTDH PCNT PDGFA PDGFB PDK1 PEX26 PIGS RUNX1
Entrez ID		1291
HPRD ID		00370
Ensembl ID		ENSG00000142156
Uniprot IDs		A0A384P5H7 P12109
PDB IDs
Enriched GO Terms of Interacting Partners?
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