NUP214 - New-wiki

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	ASS1	argininosuccinate synthase 1	Urea cycle	Arginine Aspartic acid Aspartic acid Citrulline Citrulline ATP	Citrullinemia (CTLN)
Novel	CHST6	carbohydrate sulfotransferase 6	Keratan sulfate biosynthesis Defective CHST6 causes MCDC1		Macular corneal dystrophy (MCD); Corneal dystrophy Groenouw type II; Fehr corneal dystrophy
Novel	DYNC1I1	dynein cytoplasmic 1 intermediate chain 1	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal MHC class II antigen presentation Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion HSP90 chaperone cycle for steroid hormone receptors (SHR) RHO GTPases Activate Formins COPI-mediated anterograde transport COPI-independent Golgi-to-ER retrograde traffic Mitotic Prometaphase HCMV Early Events Aggrephagy Aggrephagy EML4 and NUDC in mitotic spindle formation
Novel	LSS	lanosterol synthase	Cholesterol biosynthesis Activation of gene expression by SREBF (SREBP)	R048-8071 Lanosterol
Novel	MRPS6	mitochondrial ribosomal protein S6	Mitochondrial translation initiation Mitochondrial translation elongation Mitochondrial translation elongation Mitochondrial translation termination
Novel	NCBP1	nuclear cap binding protein subunit 1	SLBP independent Processing of Histone Pre-mRNAs Formation of RNA Pol II elongation complex Formation of the Early Elongation Complex Transport of the SLBP independent Mature mRNA Transport of the SLBP Dependant Mature mRNA Transport of Mature mRNA Derived from an Intronless Transcript Transport of Mature mRNA derived from an Intron-Containing Transcript Formation of HIV elongation complex in the absence of HIV Tat Formation of the HIV-1 Early Elongation Complex Formation of HIV-1 elongation complex containing HIV-1 Tat Abortive elongation of HIV-1 transcript in the absence of Tat snRNP Assembly RNA Polymerase II Pre-transcription Events FGFR2 alternative splicing RNA polymerase II transcribes snRNA genes mRNA Capping mRNA Splicing - Major Pathway mRNA Splicing - Minor Pathway mRNA 3'-end processing Processing of Capped Intron-Containing Pre-mRNA RNA Polymerase II Transcription Termination SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs Processing of Intronless Pre-mRNAs Signaling by FGFR2 IIIa TM Regulation of expression of SLITs and ROBOs Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
Novel	NUP98	nucleoporin 98 and 96 precursor
Novel	POMT1	protein O-mannosyltransferase 1	Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2 Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1 O-linked glycosylation		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 Dystroglycanopathy; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama congenital muscular dystrophy (FCMD); Congenital muscular dystrophy with muscle hypertrophy (MDC1C); Congenital muscular dystrophy with severe intellectual impairment and abnormal glycosylation (MDC1D) Limb-girdle muscular dystrophy (LGMD)
Novel	PRRX2	paired related homeobox 2
Novel	STOM	stomatin	Stimuli-sensing channels Neutrophil degranulation		Hereditary stomatocytosis (HSt); Dehydrated hereditary stomatocytosis (DHS); Overhydrated hereditary stomatocytosis (OHS); Familial pseudohyperkalemia (FP)
Novel	VAV2	vav guanine nucleotide exchange factor 2	GPVI-mediated activation cascade GPVI-mediated activation cascade NRAGE signals death through JNK Rho GTPase cycle Regulation of actin dynamics for phagocytic cup formation DAP12 signaling FCERI mediated MAPK activation FCERI mediated Ca+2 mobilization FCERI mediated Ca+2 mobilization EPH-ephrin mediated repulsion of cells G alpha (12/13) signalling events VEGFA-VEGFR2 Pathway VEGFA-VEGFR2 Pathway Signal transduction by L1 VEGFR2 mediated vascular permeability FCGR3A-mediated phagocytosis FCGR3A-mediated phagocytosis
	APC	APC regulator of WNT signaling pathway	Apoptotic cleavage of cellular proteins Degradation of beta-catenin by the destruction complex Beta-catenin phosphorylation cascade Deactivation of the beta-catenin transactivating complex Disassembly of the destruction complex and recruitment of AXIN to the membrane Disassembly of the destruction complex and recruitment of AXIN to the membrane Signaling by GSK3beta mutants S33 mutants of beta-catenin aren't phosphorylated S37 mutants of beta-catenin aren't phosphorylated S45 mutants of beta-catenin aren't phosphorylated T41 mutants of beta-catenin aren't phosphorylated APC truncation mutants are not K63 polyubiquitinated APC truncation mutants have impaired AXIN binding AXIN missense mutants destabilize the destruction complex Truncations of AMER1 destabilize the destruction complex Ovarian tumor domain proteases		Familial adenomatous polyposis Esophageal cancer Gastric cancer Cancer of the anal canal Gallbladder cancer
	CLEC4G	C-type lectin domain family 4 member G	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
	DDX19B	DEAD-box helicase 19B
	IPO5	importin 5	vRNP Assembly
	NFX1	nuclear transcription factor, X-box binding 1
	NUP107	nucleoporin 107	ISG15 antiviral mechanism Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Transport of the SLBP independent Mature mRNA Transport of the SLBP Dependant Mature mRNA Transport of Mature mRNA Derived from an Intronless Transcript Transport of Mature mRNA derived from an Intron-Containing Transcript Rev-mediated nuclear export of HIV RNA Transport of Ribonucleoproteins into the Host Nucleus NS1 Mediated Effects on Host Pathways Viral Messenger RNA Synthesis NEP/NS2 Interacts with the Cellular Export Machinery Regulation of Glucokinase by Glucokinase Regulatory Protein Nuclear import of Rev protein Vpr-mediated nuclear import of PICs snRNP Assembly Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion SUMOylation of DNA damage response and repair proteins SUMOylation of ubiquitinylation proteins Nuclear Pore Complex (NPC) Disassembly Regulation of HSF1-mediated heat shock response SUMOylation of SUMOylation proteins SUMOylation of chromatin organization proteins SUMOylation of RNA binding proteins SUMOylation of DNA replication proteins SUMOylation of DNA replication proteins Transcriptional regulation by small RNAs Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC) RHO GTPases Activate Formins tRNA processing in the nucleus Mitotic Prometaphase HCMV Early Events HCMV Late Events Postmitotic nuclear pore complex (NPC) reformation Postmitotic nuclear pore complex (NPC) reformation EML4 and NUDC in mitotic spindle formation
	NUP42	nucleoporin 42	ISG15 antiviral mechanism Transport of the SLBP independent Mature mRNA Transport of the SLBP Dependant Mature mRNA Transport of Mature mRNA Derived from an Intronless Transcript Transport of Mature mRNA derived from an Intron-Containing Transcript Rev-mediated nuclear export of HIV RNA Transport of Ribonucleoproteins into the Host Nucleus NS1 Mediated Effects on Host Pathways Viral Messenger RNA Synthesis NEP/NS2 Interacts with the Cellular Export Machinery Regulation of Glucokinase by Glucokinase Regulatory Protein Nuclear import of Rev protein Vpr-mediated nuclear import of PICs snRNP Assembly SUMOylation of DNA damage response and repair proteins SUMOylation of ubiquitinylation proteins Nuclear Pore Complex (NPC) Disassembly Regulation of HSF1-mediated heat shock response SUMOylation of SUMOylation proteins SUMOylation of chromatin organization proteins SUMOylation of RNA binding proteins SUMOylation of DNA replication proteins SUMOylation of DNA replication proteins Transcriptional regulation by small RNAs Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC) tRNA processing in the nucleus HCMV Early Events HCMV Late Events
	NUP62	nucleoporin 62	ISG15 antiviral mechanism Transport of the SLBP independent Mature mRNA Transport of the SLBP Dependant Mature mRNA Transport of Mature mRNA Derived from an Intronless Transcript Transport of Mature mRNA derived from an Intron-Containing Transcript Rev-mediated nuclear export of HIV RNA Transport of Ribonucleoproteins into the Host Nucleus NS1 Mediated Effects on Host Pathways Viral Messenger RNA Synthesis NEP/NS2 Interacts with the Cellular Export Machinery Regulation of Glucokinase by Glucokinase Regulatory Protein Nuclear import of Rev protein Vpr-mediated nuclear import of PICs snRNP Assembly SUMOylation of DNA damage response and repair proteins SUMOylation of ubiquitinylation proteins Nuclear Pore Complex (NPC) Disassembly Regulation of HSF1-mediated heat shock response SUMOylation of SUMOylation proteins SUMOylation of chromatin organization proteins SUMOylation of RNA binding proteins SUMOylation of DNA replication proteins SUMOylation of DNA replication proteins Transcriptional regulation by small RNAs Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC) tRNA processing in the nucleus HCMV Early Events HCMV Late Events Postmitotic nuclear pore complex (NPC) reformation
	NUP88	nucleoporin 88	ISG15 antiviral mechanism Transport of the SLBP independent Mature mRNA Transport of the SLBP Dependant Mature mRNA Transport of Mature mRNA Derived from an Intronless Transcript Transport of Mature mRNA derived from an Intron-Containing Transcript Rev-mediated nuclear export of HIV RNA Transport of Ribonucleoproteins into the Host Nucleus NS1 Mediated Effects on Host Pathways Viral Messenger RNA Synthesis NEP/NS2 Interacts with the Cellular Export Machinery Regulation of Glucokinase by Glucokinase Regulatory Protein Nuclear import of Rev protein Vpr-mediated nuclear import of PICs snRNP Assembly SUMOylation of DNA damage response and repair proteins SUMOylation of ubiquitinylation proteins Nuclear Pore Complex (NPC) Disassembly Regulation of HSF1-mediated heat shock response SUMOylation of SUMOylation proteins SUMOylation of chromatin organization proteins SUMOylation of RNA binding proteins SUMOylation of DNA replication proteins SUMOylation of DNA replication proteins Transcriptional regulation by small RNAs Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC) tRNA processing in the nucleus HCMV Early Events HCMV Late Events

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