NPHP1 - New-wiki

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	BCL2L11	BCL2 like 11	Activation of BIM and translocation to mitochondria BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members NRAGE signals death through JNK Signaling by BRAF and RAF1 fusions Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models RUNX3 regulates BCL2L11 (BIM) transcription FLT3 Signaling FOXO-mediated transcription of cell death genes
Novel	COX5B	cytochrome c oxidase subunit 5B	TP53 Regulates Metabolic Genes Respiratory electron transport Cytoprotection by HMOX1 Mitochondrial protein degradation Complex IV assembly	Cholic Acid N-Formylmethionine
	ADAM15	ADAM metallopeptidase domain 15	Degradation of the extracellular matrix Invadopodia formation
	ARHGAP32	Rho GTPase activating protein 32	RHOA GTPase cycle RHOB GTPase cycle RHOC GTPase cycle CDC42 GTPase cycle RAC1 GTPase cycle RAC2 GTPase cycle RHOD GTPase cycle RHOQ GTPase cycle RHOG GTPase cycle RHOJ GTPase cycle RAC3 GTPase cycle RHOF GTPase cycle Regulation of CDH1 posttranslational processing and trafficking to plasma membrane
	BCAR1	BCAR1 scaffold protein, Cas family member	Downstream signal transduction p130Cas linkage to MAPK signaling for integrins VEGFA-VEGFR2 Pathway VEGFA-VEGFR2 Pathway PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases
	FBXO7	F-box protein 7	Neddylation Antigen processing: Ubiquitination & Proteasome degradation		Parkinson's disease (PD)
	FLNA	filamin A	Platelet degranulation GP1b-IX-V activation signalling Cell-extracellular matrix interactions RHO GTPases activate PAKs OAS antiviral response	Artenimol	FG syndrome (FGS); Opitz-Kaveggia syndrome Periventricular nodular heterotopia (PVNH) Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS) Fronto-Otopalatodigital Osteodysplasia, including: Otopalatodigital syndrome, type I; Otopalatodigital syndrome, type II; Melnick-Needles syndrome; Frontometaphyseal dysplasia
	FLNB	filamin B	ISG15 antiviral mechanism		FLNB-related disorders, including: ; Atelostogenesis, type I; Boomerang dysplasia; Atelosteogenesis, type III; Larsen syndrome Spondylocarpotarsal synostosis syndrome
	FLNC	filamin C	Cell-extracellular matrix interactions		Myofibrillar myopathies (MFM), including: Desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Myotilinopathy (MFM3); Zaspopathy (MFM4); Filaminopathy (MFM5); Bag3opathy
	INVS	inversin			Nephronophthisis-medullary cystic kidney disease, including; Nephronophthisis (NPH) ; Nephronophthisis-like nephropathy 1; Medullary cystic kidney disease 1; Medullary cystic kidney disease 2 (MSKD2)
	KHDRBS1	KH RNA binding domain containing, signal transduction associated 1	PTK6 Regulates Proteins Involved in RNA Processing
	NPHP3	nephrocystin 3	Trafficking of myristoylated proteins to the cilium		Renal-hepatic-pancreatic dysplasia Meckel syndrome (MKS); Meckel-Gruber 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
	NPHP4	nephrocystin 4	Signaling by Hippo Anchoring of the basal body to the plasma membrane		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
	PAK2	p21 (RAC1) activated kinase 2	Nef and signal transduction Generation of second messenger molecules Regulation of PAK-2p34 activity by PS-GAP/RHG10 Regulation of activated PAK-2p34 by proteasome mediated degradation Stimulation of the cell death response by PAK-2p34 FCERI mediated MAPK activation FCERI mediated MAPK activation CD28 dependent Vav1 pathway Ephrin signaling Sema3A PAK dependent Axon repulsion Activation of RAC1 VEGFA-VEGFR2 Pathway Smooth Muscle Contraction VEGFR2 mediated vascular permeability CD209 (DC-SIGN) signaling RHO GTPases activate PAKs RHO GTPases activate PAKs MAPK6/MAPK4 signaling Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation CDC42 GTPase cycle RAC1 GTPase cycle RAC2 GTPase cycle RHOQ GTPase cycle RHOH GTPase cycle RHOG GTPase cycle RHOJ GTPase cycle RHOU GTPase cycle RAC3 GTPase cycle RHOV GTPase cycle	Fostamatinib
	PTK2B	protein tyrosine kinase 2 beta	Signal regulatory protein family interactions VEGFA-VEGFR2 Pathway RHOU GTPase cycle Interleukin-2 signaling	Leflunomide Genistein 4-{[4-{[(1R,2R)-2-(dimethylamino)cyclopentyl]amino}-5-(trifluoromethyl)pyrimidin-2-yl]amino}-N-methylbenzenesulfonamide Fostamatinib
	TNK2	tyrosine kinase non receptor 2	Signaling by LTK	ATP Debromohymenialdisine Entrectinib Fostamatinib
	TUBB	tubulin beta class I	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 Neutrophil degranulation AURKA Activation by TPX2 Potential therapeutics for SARS	Vinorelbine Vincristine Vinblastine Podofilox Colchicine Epothilone D Patupilone CYT997 CA4P ZEN-012 Tirbanibulin Copper Artenimol Vinflunine Depatuxizumab mafodotin Milataxel Colchiceine
	UBQLN4	ubiquilin 4

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