COL6A1 and MLLT3

		COL6A1	MLLT3
Description		collagen type VI alpha 1 chain	MLLT3 super elongation complex subunit
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	Nucleus Nucleoplasm Chromosome Cytosol Transcription Elongation Factor Complex Extracellular Exosome
	Molecular Function	Protein Binding Collagen Binding Extracellular Matrix Structural Constituent Conferring Tensile Strength Platelet-derived Growth Factor Binding	DNA Binding Chromatin Binding Protein Binding Histone Binding Molecular Adaptor Activity Modification-dependent Protein Binding Histone H3K18ac Reader Activity Histone H3K9ac Reader Activity Histone H3K27ac Reader 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	Chromatin Organization Segment Specification Anterior/posterior Pattern Specification Gene Expression Positive Regulation Of DNA-templated Transcription Hematopoietic Stem Cell Differentiation Negative Regulation Of Canonical Wnt Signaling Pathway Regulation Of Chromatin Organization Regulation Of Stem Cell Division Positive Regulation Of Wnt Signaling Pathway, Planar Cell Polarity 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	Formation of RNA Pol II elongation complex RNA Polymerase II Pre-transcription Events RNA Polymerase II Transcription Elongation
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		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)	Atrial fibrillation ( 29892015) Dietary fat liking ( 32516399) Estimated glomerular filtration rate ( 31152163) Glutathione peroxidase in non-alcoholic fatty liver disease x mastiha supplementation interaction ( 34025683) Hematocrit ( 32888494) Hemoglobin ( 32888494) Mean reticulocyte volume ( 32888494) Platelet distribution width ( 32888494) Response to montelukast in asthma (change in FEV1) ( 26083242) Systolic blood pressure ( 30578418)
Interacting Genes		15 interacting genes: BGN COL18A1 COL2A1 DCN DNAJB11 FGF7 ITGAV LAMB1 LGALS3BP MAG MTDH PDGFA PDGFB TGM2 THBS1	18 interacting genes: AFF1 ALKBH4 APP APPBP2 BCOR CBX8 CDK6 EEF1A1 H3C1 LRIF1 LRRK2 MCM6 NRIP1 PTN RBM48 SGK1 VAX1 ZNF572
Entrez ID		1291	4300
HPRD ID		00370	01163
Ensembl ID		ENSG00000142156	ENSG00000171843
Uniprot IDs		A0A384P5H7 P12109	A0A0S2Z448 P42568
PDB IDs			2LM0 2MV7 2N4Q 2NDF 2NDG 4TMP 5HJB 5HJD 5YYF 6B7G 6L5Z 6LS6 6MIL 6MIM 7EIC 7EID 7VKG 7VKH 8PJ7 8TLV 8TLW 8TLX 9ARO 9ARR
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	Cell Projection Morphogenesis Golgi-associated Vesicle Chromatin Organization Epigenetic Regulation Of Gene Expression Negative Regulation Of Transcription By RNA Polymerase II Regulation Of Macromolecule Metabolic Process Neuron Projection Morphogenesis Regulation Of Gene Expression Negative Regulation Of Long-term Synaptic Potentiation Response To Auditory Stimulus Cellular Response To Catecholamine Stimulus Regulation Of Metabolic Process Cellular Response To Manganese Ion Response To Catecholamine Response To Manganese Ion Nucleoplasm Regulation Of Neuroblast Proliferation Neuron Projection Arborization Regulation Of Neural Precursor Cell Proliferation Negative Regulation Of Neuroblast Proliferation Nuclear Retinoic Acid Receptor Binding Negative Regulation Of Macromolecule Biosynthetic Process Nucleus Regulation Of Macromolecule Biosynthetic Process Negative Regulation Of RNA Biosynthetic Process Negative Regulation Of DNA-templated Transcription Negative Regulation Of Biosynthetic Process Memory Molecular Function Activator Activity Negative Regulation Of Neural Precursor Cell Proliferation Negative Regulation Of RNA Metabolic Process Chromatin Remodeling Amyloid-beta Complex Regulation Of Endoplasmic Reticulum Stress-induced Intrinsic Apoptotic Signaling Pathway Growth Cone Lamellipodium Regulation Of Response To Calcium Ion Positive Regulation Of G Protein-coupled Receptor Signaling Pathway Amylin Binding Positive Regulation Of Toll Signaling Pathway Negative Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of Long-term Synaptic Potentiation Negative Regulation Of Macromolecule Metabolic Process Dendrite Development Cyclin D2-CDK6 Complex Response To Polyamine Macromolecule Response To Reactive Oxygen Species Ovarian Follicle Rupture DNA N6-methyladenine Demethylase Activity Negative Regulation Of Tooth Mineralization BCOR Complex
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