COL6A1 and PCNT

		COL6A1	PCNT
Description		collagen type VI alpha 1 chain	pericentrin
Image		No pdb structure	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 Centrosome Centriole Microtubule Organizing Center Cytosol Cytoskeleton Microtubule Membrane Centriolar Satellite
	Molecular Function	Protein Binding Collagen Binding Extracellular Matrix Structural Constituent Conferring Tensile Strength Platelet-derived Growth Factor Binding	Protein Binding Calmodulin Binding Molecular Adaptor 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	Microtubule Cytoskeleton Organization Microtubule Nucleation Mitotic Spindle Organization Signal Transduction Cilium Assembly Positive Regulation Of Intracellular Protein Transport
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 PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Anchoring of the basal body to the plasma membrane AURKA Activation by TPX2 Chaperone Mediated Autophagy Late endosomal microautophagy Aggrephagy Aggrephagy
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)	Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) Seckel 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)	Heel bone mineral density ( 30598549) Pre-treatment viral load in HIV-1 infection ( 31219150) S100 calcium-binding protein levels ( 33227023) Treatment resistant depression ( 30468137)
Interacting Genes		15 interacting genes: BGN COL18A1 COL2A1 DCN DNAJB11 FGF7 ITGAV LAMB1 LGALS3BP MAG MTDH PDGFA PDGFB TGM2 THBS1	55 interacting genes: AKAP6 AKAP9 ANKRD24 ARHGAP21 CALM1 CALM2 CCP110 CEP55 CEP85L CYTH1 DISC1 DMXL2 DNM1 DNM2 DNM3 DST EIF4G3 FEZ1 HMOX2 HUWE1 KALRN KIF1A KIF5C MACF1 MADD MAP1LC3A MAP1LC3B MRFAP1 MYT1L NECAB1 NIPBL ODF2L PARVB PCM1 PNISR RPRD1A RRBP1 RTRAF SEPTIN7 SHTN1 SPTAN1 SPTBN1 SPTBN2 SRGAP2 ST18 SYNE1 TP53BP1 TRAF3IP1 TUBG1 TUBGCP2 TUBGCP3 UTRN YWHAH YWHAZ YY1AP1
Entrez ID		1291	5116
HPRD ID		00370	05804
Ensembl ID		ENSG00000142156	ENSG00000160299
Uniprot IDs		A0A384P5H7 P12109	O95613
PDB IDs
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	Cytoskeleton Microtubule Cell Projection Organelle Organization Cytoplasm Centrosome Microtubule Binding Cell Projection Organization Synaptic Vesicle Budding From Presynaptic Endocytic Zone Membrane Microtubule-based Process Actin Binding Centriole Cytoskeleton Organization Plasma Membrane Bounded Cell Projection Organization Spectrin Identical Protein Binding Microtubule Nucleation Gamma-tubulin Complex Cell Projection Assembly Cellular Component Assembly Transmembrane Transporter Binding Negative Regulation Of Ryanodine-sensitive Calcium-release Channel Activity Vesicle Scission Microtubule Minus-end Binding Ciliary Basal Body Microtubule Organizing Center Structural Constituent Of Cytoskeleton Transport Along Microtubule Microtubule Cytoskeleton Cytosol Plasma Membrane Bounded Cell Projection Assembly Organelle Localization Sarcomere Establishment Of Organelle Localization Cell Leading Edge Pericentriolar Material Cytoskeleton-dependent Intracellular Transport Cytoplasmic Microtubule Organization Actin Filament Binding Regulation Of Ryanodine-sensitive Calcium-release Channel Activity Negative Regulation Of Calcium Ion Export Across Plasma Membrane Adenylate Cyclase Activator Activity Calcium Channel Complex Polar Microtubule Actin Filament-based Process Microtubule-based Transport Cadherin Binding Regulation Of Cellular Component Organization Negative Regulation Of Release Of Sequestered Calcium Ion Into Cytosol Transporter Inhibitor Activity
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