NPHP3 - New-wiki

Novel	Interactant Symbol	Name	Associated Pathways Hide	Associated Diseases Hide
Novel	ANAPC13	anaphase promoting complex subunit 13	Antigen processing: Ubiquitination & Proteasome degradation
Novel	ASTE1	asteroid structure-specific endonuclease 1
Novel	CCDC50	coiled-coil domain containing 50
Novel	CDV3	CDV3 homolog
Novel	COL7A1	collagen type VII alpha 1 chain	Collagen degradation Collagen degradation Fibronectin matrix formation Collagen biosynthesis and modifying enzymes Assembly of collagen fibrils and other multimeric structures COPII-mediated vesicle transport Integrin cell surface interactions Anchoring fibril formation Laminin interactions Laminin interactions Cargo concentration in the ER Collagen chain trimerization	Epidermolysis bullosa, dysprophic, including: ; Epidermolysis bullosa dystrophica, AD; Epidermolysis bullosa dystrophica, AR; Epidermolysis bullosa pruriginosa; Epidermolysis bullosa, pretibial Transient bullous dermolysis of the newborn
Novel	DDX3Y	DEAD-box helicase 3 Y-linked
Novel	DNAJC13	DnaJ heat shock protein family (Hsp40) member C13	Neutrophil degranulation
Novel	DPP7	dipeptidyl peptidase 7	Neutrophil degranulation
Novel	EPC1	enhancer of polycomb 1	HATs acetylate histones Transcriptional Regulation by E2F6
Novel	NAA50	N-alpha-acetyltransferase 50, NatE catalytic subunit
Novel	PARP14	poly(ADP-ribose) polymerase family member 14	Nicotinate metabolism Maturation of nucleoprotein Maturation of nucleoprotein
Novel	PIK3R4	phosphoinositide-3-kinase regulatory subunit 4	PI3K Cascade Macroautophagy Synthesis of PIPs at the Golgi membrane Synthesis of PIPs at the early endosome membrane Synthesis of PIPs at the late endosome membrane Toll Like Receptor 9 (TLR9) Cascade RHO GTPases Activate NADPH Oxidases Translation of Replicase and Assembly of the Replication Transcription Complex Translation of Replicase and Assembly of the Replication Transcription Complex SARS-CoV-2 activates/modulates innate and adaptive immune responses Antigen Presentation: Folding, assembly and peptide loading of class I MHC
Novel	PPP2R3A	protein phosphatase 2 regulatory subunit B''alpha
Novel	RAB6B	RAB6B, member RAS oncogene family	COPI-independent Golgi-to-ER retrograde traffic Retrograde transport at the Trans-Golgi-Network TBC/RABGAPs RAB geranylgeranylation RAB GEFs exchange GTP for GDP on RABs
Novel	TOPBP1	DNA topoisomerase II binding protein 1	HDR through Single Strand Annealing (SSA) Processing of DNA double-strand break ends Presynaptic phase of homologous DNA pairing and strand exchange Regulation of TP53 Activity through Phosphorylation G2/M DNA damage checkpoint Impaired BRCA2 binding to RAD51
	ATXN1	ataxin 1		Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)
	DYSF	dysferlin	Smooth Muscle Contraction Smooth Muscle Contraction	Dysferlinopathies, including: Miyoshi myopathy (MM); Limb-girdle muscular dystrophy (LGMD) 2B; Distal myopathy with anterior tibial onset (DMAT) Limb-girdle muscular dystrophy (LGMD) 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)
	NPHP1	nephrocystin 1	Anchoring of the basal body to the plasma membrane	Joubert syndrome Nephronophthisis-medullary cystic kidney disease, including; Nephronophthisis (NPH) ; Nephronophthisis-like nephropathy 1; Medullary cystic kidney disease 1; Medullary cystic kidney disease 2 (MSKD2) Senior-Loken syndrome

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