DYSF and NPHP3

Data Source:
BioGRID (two hybrid)

		DYSF	NPHP3
Description		dysferlin	nephrocystin 3
Image
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 Cytosol Cilium
	Molecular Function	Calcium Ion Binding Protein Binding Phospholipid Binding Calcium-dependent Phospholipid Binding	Protein Binding
	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	Kidney Development Heart Looping Atrial Septum Development Determination Of Left/right Symmetry Wnt Signaling Pathway Lung Development Determination Of Pancreatic Left/right Asymmetry Photoreceptor Cell Maintenance Maintenance Of Animal Organ Identity Convergent Extension Involved In Gastrulation Cilium Assembly Epithelial Cilium Movement Involved In Determination Of Left/right Asymmetry Kidney Morphogenesis Determination Of Intestine Left/right Asymmetry Determination Of Stomach Left/right Asymmetry Determination Of Liver Left/right Asymmetry Ureter Development Negative Regulation Of Canonical Wnt Signaling Pathway Regulation Of Wnt Signaling Pathway, Planar Cell Polarity Pathway Regulation Of Planar Cell Polarity Pathway Involved In Neural Tube Closure
Pathways		Smooth Muscle Contraction Smooth Muscle Contraction	Trafficking of myristoylated proteins to the cilium
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)	Senior-Loken syndrome Renal-hepatic-pancreatic dysplasia Nephronophthisis-medullary cystic kidney disease, including; Nephronophthisis (NPH) ; Nephronophthisis-like nephropathy 1; Medullary cystic kidney disease 1; Medullary cystic kidney disease 2 (MSKD2) Meckel syndrome (MKS); Meckel-Gruber syndrome
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)	Blood protein levels ( 28240269) Brain morphology (min-P) ( 32665545) Brain morphology (MOSTest) ( 32665545) Cortical surface area (MOSTest) ( 32665545) Mean corpuscular hemoglobin ( 27863252) Mean corpuscular volume ( 27863252) Menarche (age at onset) ( 27182965 21102462) Subcortical volume (MOSTest) ( 32665545)
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	3 interacting genes: ATXN1 DYSF NPHP1
Entrez ID		8291	27031
HPRD ID		04307	06417
Ensembl ID		ENSG00000135636	ENSG00000113971
Uniprot IDs		O75923	Q7Z494
PDB IDs		4CAH 4CAI 4IHB 4IQH	5L7K
Enriched GO Terms of Interacting Partners?
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