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
- Misspliced GSK3beta mutants stabilize beta-catenin
- 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
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- Familial adenomatous polyposis
- Esophageal cancer
- Gastric cancer
- Cancer of the anal canal
- Gallbladder cancer
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ASS1 |
argininosuccinate synthase 1 |
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- L-Arginine
- L-Aspartic Acid
- L-Aspartic Acid
- L-Citrulline
- L-Citrulline
- ATP
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CHST6 |
carbohydrate sulfotransferase 6 |
- Keratan sulfate biosynthesis
- Defective CHST6 causes MCDC1
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- Macular corneal dystrophy (MCD); Corneal dystrophy Groenouw type II; Fehr corneal dystrophy
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CLEC4G |
C-type lectin domain family 4 member G |
- Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
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DDX19B |
DEAD-box helicase 19B |
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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
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IPO5 |
importin 5 |
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LSS |
lanosterol synthase |
- Cholesterol biosynthesis
- Activation of gene expression by SREBF (SREBP)
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MRPS6 |
mitochondrial ribosomal protein S6 |
- Mitochondrial translation initiation
- Mitochondrial translation elongation
- Mitochondrial translation elongation
- Mitochondrial translation termination
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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)
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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
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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
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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
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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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NUP98 |
nucleoporin 98 and 96 precursor |
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NXF1 |
nuclear RNA export factor 1 |
- 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
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NXF2 |
nuclear RNA export factor 2 |
- Transport of Mature mRNA derived from an Intron-Containing Transcript
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POMT1 |
protein O-mannosyltransferase 1 |
- Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2
- Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1
- O-linked glycosylation
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- 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)
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PRRX2 |
paired related homeobox 2 |
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SMAD2 |
SMAD family member 2 |
- Signaling by NODAL
- Signaling by NODAL
- Signaling by Activin
- Downregulation of TGF-beta receptor signaling
- TGF-beta receptor signaling activates SMADs
- Downregulation of SMAD2/3:SMAD4 transcriptional activity
- Downregulation of SMAD2/3:SMAD4 transcriptional activity
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- SMAD2/3 Phosphorylation Motif Mutants in Cancer
- SMAD4 MH2 Domain Mutants in Cancer
- SMAD2/3 MH2 Domain Mutants in Cancer
- TGFBR1 KD Mutants in Cancer
- Transcriptional regulation of pluripotent stem cells
- Ub-specific processing proteases
- FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
- FOXO-mediated transcription of cell cycle genes
- FOXO-mediated transcription of cell cycle genes
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SMAD3 |
SMAD family member 3 |
- Signaling by NODAL
- Signaling by NODAL
- Signaling by Activin
- Downregulation of TGF-beta receptor signaling
- TGF-beta receptor signaling activates SMADs
- Downregulation of SMAD2/3:SMAD4 transcriptional activity
- Downregulation of SMAD2/3:SMAD4 transcriptional activity
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- SMAD2/3 Phosphorylation Motif Mutants in Cancer
- SMAD4 MH2 Domain Mutants in Cancer
- SMAD2/3 MH2 Domain Mutants in Cancer
- TGFBR1 KD Mutants in Cancer
- Ub-specific processing proteases
- RUNX3 regulates CDKN1A transcription
- RUNX3 regulates BCL2L11 (BIM) transcription
- Interleukin-37 signaling
- NOTCH4 Intracellular Domain Regulates Transcription
- FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
- FOXO-mediated transcription of cell cycle genes
- FOXO-mediated transcription of cell cycle genes
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SMAD4 |
SMAD family member 4 |
- Signaling by NODAL
- Signaling by Activin
- Signaling by BMP
- TGF-beta receptor signaling activates SMADs
- Downregulation of SMAD2/3:SMAD4 transcriptional activity
- Downregulation of SMAD2/3:SMAD4 transcriptional activity
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- SMAD4 MH2 Domain Mutants in Cancer
- SMAD2/3 MH2 Domain Mutants in Cancer
- Transcriptional regulation of pluripotent stem cells
- Ub-specific processing proteases
- RUNX2 regulates bone development
- RUNX3 regulates CDKN1A transcription
- RUNX3 regulates BCL2L11 (BIM) transcription
- FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
- FOXO-mediated transcription of cell cycle genes
- FOXO-mediated transcription of cell cycle genes
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- Colorectal cancer
- Hereditary hemorrhagic telangiectasia (HHT)
- Pancreatic cancer
- Juvenile polyposis syndrome
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STOM |
stomatin |
- Stimuli-sensing channels
- Neutrophil degranulation
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- Hereditary stomatocytosis (HSt); Dehydrated hereditary stomatocytosis (DHS); Overhydrated hereditary stomatocytosis (OHS); Familial pseudohyperkalemia (FP)
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TNPO1 |
transportin 1 |
- Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA
- Intraflagellar transport
- Postmitotic nuclear pore complex (NPC) reformation
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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
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XPO1 |
exportin 1 |
- Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
- Rev-mediated nuclear export of HIV RNA
- NEP/NS2 Interacts with the Cellular Export Machinery
- Downregulation of TGF-beta receptor signaling
- Separation of Sister Chromatids
- Resolution of Sister Chromatid Cohesion
- Deactivation of the beta-catenin transactivating complex
- HuR (ELAVL1) binds and stabilizes mRNA
- RHO GTPases Activate Formins
- MAPK6/MAPK4 signaling
- Mitotic Prometaphase
- Cyclin A/B1/B2 associated events during G2/M transition
- Estrogen-dependent nuclear events downstream of ESR-membrane signaling
- EML4 and NUDC in mitotic spindle formation
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XPO5 |
exportin 5 |
- MicroRNA (miRNA) biogenesis
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XPOT |
exportin for tRNA |
- tRNA processing in the nucleus
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ZFP36 |
ZFP36 ring finger protein |
- Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA
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