DYSF and COL12A1

Data Source:
BioGRID (two hybrid)

		DYSF	COL12A1
Description		dysferlin	collagen type XII alpha 1 chain
Image			No pdb structure
GO Annotations	Cellular Component	Endosome Early Endosome Late Endosome Plasma Membrane Integral Component Of Membrane Endocytic Vesicle T-tubule Cytoplasmic Vesicle Membrane Cytoplasmic Vesicle Centriolar Satellite Sarcolemma Extracellular Exosome	Extracellular Region Collagen Type XII Trimer Extracellular Space Endoplasmic Reticulum Lumen Collagen-containing Extracellular Matrix Extracellular Exosome Extracellular Vesicle
	Molecular Function	Calcium Ion Binding Protein Binding Phospholipid Binding Calcium-dependent Phospholipid Binding	Extracellular Matrix Structural Constituent Conferring Tensile Strength
	Biological Process	Plasma Membrane Repair Monocyte Activation Involved In Immune Response Macrophage Activation Involved In Immune Response Vesicle Fusion Muscle Contraction Plasma Membrane Organization T-tubule Organization Negative Regulation Of Phagocytosis Membrane Fusion	Cell Adhesion Collagen Fibril Organization Endodermal Cell Differentiation
Pathways		Smooth Muscle Contraction Smooth Muscle Contraction	Collagen degradation Collagen biosynthesis and modifying enzymes Assembly of collagen fibrils and other multimeric structures Collagen chain trimerization
Drugs
Diseases		Distal muscular dystrophies, including: Welander distal myopathy (WDM); Tibial muscular dystrophy (TMD); Nonaka distal myopathy with rimmed vacuoles (DMRV); Miyoshi myopathy (MM); Laing myopathy (MPD1); Distal nebulin myopathy (DNM); Distal desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Distal myotilinopathy (MFM3); Distal zaspopathy (MFM4); Distal myopathy 3 (MPD2, VCPDM) Dysferlinopathies, including: Miyoshi myopathy (MM); Limb-girdle muscular dystrophy (LGMD) 2B; Distal myopathy with anterior tibial onset (DMAT) Limb-girdle muscular dystrophy (LGMD)
GWAS		Asthma ( 32296059) Extremely high intelligence ( 29520040) General cognitive ability ( 29844566) Hip circumference adjusted for BMI ( 28552196) Nonalcoholic steatohepatitis-derived hepatocellular carcinoma ( 29385134) PR interval in Tripanosoma cruzi seropositivity ( 24324551) Protein quantitative trait loci ( 18464913) Urate levels in overweight individuals ( 25811787)	Central corneal thickness ( 32528159 29760442) Joint mobility (Beighton score) ( 27182965) Systemic juvenile idiopathic arthritis ( 27927641)
Interacting Genes		40 interacting genes: AKAP1 ANKRD1 ANXA1 ANXA2 APPL1 CAPN3 CAV3 CMYA5 COL12A1 COL6A3 DGKD DHX15 DNAJB6 EEF1A1 EEF1G FAM120A GNL3 KARS1 KIF1B MORF4L1 MYBPC1 MYBPC2 MYH3 MYOM1 MYOM2 NPHP3 OPTN OS9 PHF1 PLP1 RNF10 RNF2 SAMHD1 SGCG SLC12A6 SNAPIN TAF1 XIRP2 XRCC6 ZNF23	2 interacting genes: DYSF MYBPC2
Entrez ID		8291	1303
HPRD ID		04307	00377
Ensembl ID		ENSG00000135636	ENSG00000111799
Uniprot IDs		O75923	Q99715
PDB IDs		4CAH 4CAI 4IHB 4IQH
Enriched GO Terms of Interacting Partners?
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