|
GLB1 |
galactosidase beta 1 |
- Keratan sulfate degradation
- CS/DS degradation
- MPS IV - Morquio syndrome B (Keratin metabolism)
- Sialic acid metabolism
- Defective NEU1 causes sialidosis
- Neutrophil degranulation
- Glycosphingolipid catabolism
- MPS IV - Morquio syndrome B (CS/DS degradation)
|
|
- Mucopolysaccharidosis type IV (MPS4), including: Morquio syndrome A (MPS4A); Morquio syndrome B (MPS4B)
- Galactosialidosis
- GM1 gangliosidosis
|
|
GOLM1 |
golgi membrane protein 1 |
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- Post-translational protein phosphorylation
|
|
|
|
GPR152 |
G protein-coupled receptor 152 |
|
|
|
|
GPX8 |
glutathione peroxidase 8 (putative) |
- Detoxification of Reactive Oxygen Species
|
- Glutathione
- Glutathione disulfide
- Benzoyl peroxide
|
|
|
HSD17B11 |
hydroxysteroid 17-beta dehydrogenase 11 |
|
|
|
|
JUNB |
JunB proto-oncogene, AP-1 transcription factor subunit |
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- Interleukin-4 and Interleukin-13 signaling
- NGF-stimulated transcription
- NGF-stimulated transcription
- Nuclear events stimulated by ALK signaling in cancer
|
|
|
|
KCNA2 |
potassium voltage-gated channel subfamily A member 2 |
- Voltage gated Potassium channels
|
- Enflurane
- Promethazine
- Miconazole
- Dalfampridine
|
|
|
KCNA4 |
potassium voltage-gated channel subfamily A member 4 |
- Voltage gated Potassium channels
|
- Enflurane
- Promethazine
- Miconazole
- Arginineamide
- Dalfampridine
|
|
|
LIG4 |
DNA ligase 4 |
- 2-LTR circle formation
- Nonhomologous End-Joining (NHEJ)
|
|
- DNA repair defects, including the following six diseases: Ataxia telangiectasia (AT); Ataxia-talangiectasia-like syndrome; Nijmegen syndrome; DNA ligase I deficiency; DNA ligase IV deficiency; Bloom's syndrome
|
|
LMNA |
lamin A/C |
- XBP1(S) activates chaperone genes
- Signaling by BRAF and RAF1 fusions
|
|
- Mandibuloacral dysplasia
- Familial partial lipodystrophy (FPL), including the following four diseases: Kobberling-type lipodystrophy (FPLD1); Dunnigan-type lipodystrophy (FPLD2); Dunnigan-like lipodystrophy (FPLD3); AKT2 associated lipodystrophy
- Emery-Dreifuss muscular dystrophy
- Dilated cardiomyopathy (DCM)
- Limb-girdle muscular dystrophy (LGMD)
- Hutchinson-Gilford progeria syndrome
- Restrictive dermopathy
- Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
- 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
|
|
MGST3 |
microsomal glutathione S-transferase 3 |
- Glutathione conjugation
- Aflatoxin activation and detoxification
|
|
|
|
MUC1 |
mucin 1, cell surface associated |
- Defective GALNT3 causes HFTC
- Defective C1GALT1C1 causes TNPS
- Defective GALNT12 causes CRCS1
- Dectin-2 family
- Interleukin-4 and Interleukin-13 signaling
- O-linked glycosylation of mucins
- Termination of O-glycan biosynthesis
- Developmental Lineage of Mammary Gland Luminal Epithelial Cells
- Developmental Lineage of Mammary Gland Alveolar Cells
|
|
|
|
SLC10A1 |
solute carrier family 10 member 1 |
- Recycling of bile acids and salts
|
|
|
|
SLC10A6 |
solute carrier family 10 member 6 |
- SLC-mediated bile acid transport
|
|
|
|
SLC18A1 |
solute carrier family 18 member A1 |
|
- Reserpine
- Norepinephrine
- Ephedra sinica root
- MMDA
- Metamfetamine
|
|
|
SLC39A9 |
solute carrier family 39 member 9 |
|
|
|
|
TMEM14B |
transmembrane protein 14B |
|
|
|
|
UBC |
ubiquitin C |
- Translesion synthesis by REV1
- Recognition of DNA damage by PCNA-containing replication complex
- Translesion Synthesis by POLH
- Activation of NF-kappaB in B cells
- ISG15 antiviral mechanism
- Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
- Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
- ER-Phagosome pathway
- Downregulation of ERBB4 signaling
- Spry regulation of FGF signaling
- Downregulation of ERBB2:ERBB3 signaling
- Budding and maturation of HIV virion
- NOD1/2 Signaling Pathway
- TICAM1, RIP1-mediated IKK complex recruitment
- DDX58/IFIH1-mediated induction of interferon-alpha/beta
- APC/C:Cdc20 mediated degradation of Cyclin B
- Autodegradation of Cdh1 by Cdh1:APC/C
- SCF-beta-TrCP mediated degradation of Emi1
- APC/C:Cdc20 mediated degradation of Securin
- APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
- Cdc20:Phospho-APC/C mediated degradation of Cyclin A
- Membrane binding and targetting of GAG proteins
- Assembly Of The HIV Virion
- APC-Cdc20 mediated degradation of Nek2A
- Vpu mediated degradation of CD4
- Vif-mediated degradation of APOBEC3G
- EGFR downregulation
- SCF(Skp2)-mediated degradation of p27/p21
- Degradation of beta-catenin by the destruction complex
- TCF dependent signaling in response to WNT
- Downstream TCR signaling
- NRIF signals cell death from the nucleus
- p75NTR recruits signalling complexes
- NF-kB is activated and signals survival
- Regulation of activated PAK-2p34 by proteasome mediated degradation
- NOTCH1 Intracellular Domain Regulates Transcription
- Activated NOTCH1 Transmits Signal to the Nucleus
- Activated NOTCH1 Transmits Signal to the Nucleus
- Downregulation of TGF-beta receptor signaling
- Downregulation of TGF-beta receptor signaling
- TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
- Downregulation of SMAD2/3:SMAD4 transcriptional activity
- Downregulation of SMAD2/3:SMAD4 transcriptional activity
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- Separation of Sister Chromatids
- Oxidative Stress Induced Senescence
- Senescence-Associated Secretory Phenotype (SASP)
- Oncogene Induced Senescence
- Regulation of PLK1 Activity at G2/M Transition
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Stimuli-sensing channels
- Constitutive Signaling by NOTCH1 HD Domain Mutants
- FCERI mediated NF-kB activation
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- NOTCH2 Activation and Transmission of Signal to the Nucleus
- Regulation of innate immune responses to cytosolic DNA
- Glycogen synthesis
- Autodegradation of the E3 ubiquitin ligase COP1
- Deactivation of the beta-catenin transactivating complex
- Myoclonic epilepsy of Lafora
- ABC-family proteins mediated transport
- TAK1-dependent IKK and NF-kappa-B activation
- activated TAK1 mediates p38 MAPK activation
- JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1
- AUF1 (hnRNP D0) binds and destabilizes mRNA
- Asymmetric localization of PCP proteins
- Degradation of AXIN
- Degradation of DVL
- Regulation of FZD by ubiquitination
- PINK1-PRKN Mediated Mitophagy
- N-glycan trimming in the ER and Calnexin/Calreticulin cycle
- Regulation of TNFR1 signaling
- TNFR1-induced NF-kappa-B signaling pathway
- Hedgehog ligand biogenesis
- Hh mutants are degraded by ERAD
- Dectin-1 mediated noncanonical NF-kB signaling
- CLEC7A (Dectin-1) signaling
- Degradation of GLI1 by the proteasome
- Degradation of GLI2 by the proteasome
- GLI3 is processed to GLI3R by the proteasome
- Hedgehog 'on' state
- Hedgehog 'on' state
- Negative regulation of FGFR1 signaling
- Negative regulation of FGFR2 signaling
- Negative regulation of FGFR3 signaling
- Negative regulation of FGFR4 signaling
- Translesion synthesis by POLK
- Translesion synthesis by POLI
- Termination of translesion DNA synthesis
- Regulation of RAS by GAPs
- TNFR2 non-canonical NF-kB pathway
- Negative regulation of MAPK pathway
- Regulation of necroptotic cell death
- NIK-->noncanonical NF-kB signaling
- Defective CFTR causes cystic fibrosis
- MAP3K8 (TPL2)-dependent MAPK1/3 activation
- HDR through Homologous Recombination (HRR)
- MAPK6/MAPK4 signaling
- UCH proteinases
- UCH proteinases
- Josephin domain DUBs
- Ub-specific processing proteases
- Ovarian tumor domain proteases
- Metalloprotease DUBs
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Processing of DNA double-strand break ends
- DNA Damage Recognition in GG-NER
- Formation of Incision Complex in GG-NER
- Gap-filling DNA repair synthesis and ligation in GG-NER
- Dual Incision in GG-NER
- Formation of TC-NER Pre-Incision Complex
- Transcription-Coupled Nucleotide Excision Repair (TC-NER)
- Dual incision in TC-NER
- Gap-filling DNA repair synthesis and ligation in TC-NER
- Fanconi Anemia Pathway
- Regulation of TP53 Activity through Phosphorylation
- Regulation of TP53 Degradation
- Regulation of TP53 Activity through Methylation
- Negative regulation of MET activity
- Assembly of the pre-replicative complex
- Orc1 removal from chromatin
- CDK-mediated phosphorylation and removal of Cdc6
- Cyclin D associated events in G1
- G2/M Checkpoints
- Stabilization of p53
- Ubiquitin-Mediated Degradation of Phosphorylated Cdc25A
- Ubiquitin-dependent degradation of Cyclin D
- PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1
- The role of GTSE1 in G2/M progression after G2 checkpoint
- FBXL7 down-regulates AURKA during mitotic entry and in early mitosis
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- Downregulation of ERBB2 signaling
- VLDLR internalisation and degradation
- Synthesis of active ubiquitin: roles of E1 and E2 enzymes
- Synthesis of active ubiquitin: roles of E1 and E2 enzymes
- E3 ubiquitin ligases ubiquitinate target proteins
- InlB-mediated entry of Listeria monocytogenes into host cell
- InlB-mediated entry of Listeria monocytogenes into host cell
- InlA-mediated entry of Listeria monocytogenes into host cells
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- Regulation of RUNX2 expression and activity
- Regulation of RUNX2 expression and activity
- Regulation of RUNX3 expression and activity
- Regulation of PTEN localization
- Regulation of PTEN stability and activity
- Neddylation
- ER Quality Control Compartment (ERQC)
- Regulation of expression of SLITs and ROBOs
- Regulation of expression of SLITs and ROBOs
- NOTCH3 Activation and Transmission of Signal to the Nucleus
- NOTCH3 Activation and Transmission of Signal to the Nucleus
- TICAM1-dependent activation of IRF3/IRF7
- TICAM1,TRAF6-dependent induction of TAK1 complex
- Interleukin-1 signaling
- Peroxisomal protein import
- Peroxisomal protein import
- Interferon alpha/beta signaling
- Regulation of signaling by CBL
- Endosomal Sorting Complex Required For Transport (ESCRT)
- Iron uptake and transport
- Negative regulators of DDX58/IFIH1 signaling
- Activation of IRF3, IRF7 mediated by TBK1, IKKε (IKBKE)
- IRAK1 recruits IKK complex
- IKK complex recruitment mediated by RIP1
- IRAK2 mediated activation of TAK1 complex
- TRAF6-mediated induction of TAK1 complex within TLR4 complex
- Negative regulation of NOTCH4 signaling
- Chaperone Mediated Autophagy
- Late endosomal microautophagy
- Prevention of phagosomal-lysosomal fusion
- Modulation by Mtb of host immune system
- Alpha-protein kinase 1 signaling pathway
- Aggrephagy
- Aggrephagy
- RAS processing
- Pexophagy
- Signaling by CSF1 (M-CSF) in myeloid cells
- Maturation of protein E
- SARS-CoV-1 activates/modulates innate immune responses
- Maturation of protein E
- Inactivation of CSF3 (G-CSF) signaling
- SARS-CoV-2 activates/modulates innate and adaptive immune responses
- Negative regulation of FLT3
- FLT3 signaling by CBL mutants
- Regulation of BACH1 activity
- Signaling by ALK fusions and activated point mutants
- TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling
- IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation
- IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation
- KEAP1-NFE2L2 pathway
- Regulation of NF-kappa B signaling
- GSK3B and BTRC:CUL1-mediated-degradation of NFE2L2
- Degradation of CDH1
- Amyloid fiber formation
- Regulation of TBK1, IKKε (IKBKE)-mediated activation of IRF3, IRF7
- Regulation of TBK1, IKKε-mediated activation of IRF3, IRF7 upon TLR3 ligation
- Antigen processing: Ubiquitination & Proteasome degradation
- Evasion by RSV of host interferon responses
- Regulation of pyruvate metabolism
- GSK3B-mediated proteasomal degradation of PD-L1(CD274)
- SPOP-mediated proteasomal degradation of PD-L1(CD274)
- AMPK-induced ERAD and lysosome mediated degradation of PD-L1(CD274)
- PD-L1(CD274) glycosylation and translocation to plasma membrane
- Degradation of CRY and PER proteins
- Degradation of CRY and PER proteins
- Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide
- Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide
- ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA
|
|
|