|
TAF9 |
TATA-box binding protein associated factor 9 |
- HIV Transcription Initiation
- RNA Polymerase II HIV Promoter Escape
- Transcription of the HIV genome
- HATs acetylate histones
- RNA Polymerase II Pre-transcription Events
- Regulation of TP53 Activity through Phosphorylation
- RNA polymerase II transcribes snRNA genes
- RNA polymerase II transcribes snRNA genes
- RNA Polymerase II Promoter Escape
- RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
- RNA Polymerase II Transcription Initiation
- RNA Polymerase II Transcription Initiation And Promoter Clearance
|
|
|
|
AVP |
arginine vasopressin |
- BMAL1:CLOCK,NPAS2 activates circadian gene expression
- Vasopressin-like receptors
- G alpha (q) signalling events
- G alpha (s) signalling events
- Vasopressin regulates renal water homeostasis via Aquaporins
- Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI)
- Transport of organic anions
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI)
- ADORA2B mediated anti-inflammatory cytokines production
|
|
- Neurohypophyseal diabetes insipidus (NPDI); Central Diabetes Insipidus
|
|
BMI1 |
BMI1 proto-oncogene, polycomb ring finger |
- Oxidative Stress Induced Senescence
- SUMOylation of DNA damage response and repair proteins
- SUMOylation of transcription cofactors
- SUMOylation of chromatin organization proteins
- SUMOylation of RNA binding proteins
- SUMOylation of DNA methylation proteins
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- Regulation of PTEN gene transcription
- Regulation of PTEN gene transcription
- Transcriptional Regulation by E2F6
|
|
|
|
FASLG |
Fas ligand |
- Caspase activation via Death Receptors in the presence of ligand
- Regulation by c-FLIP
- RIPK1-mediated regulated necrosis
- CASP8 activity is inhibited
- Interleukin-4 and Interleukin-13 signaling
- Dimerization of procaspase-8
- FasL/ CD95L signaling
- Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
- FOXO-mediated transcription of cell death genes
- TNFs bind their physiological receptors
|
|
- Autoimmune lymphoproliferative syndromes (ALPS), including the following five diseases: CD95 (Fas) defect, ALPS type 1a; CD95L (Fas ligand) defect, ALPS type 1b; Caspase 10 defect, ALPS type 2a; Caspase 8 defext, ALPS type 2b; Activaing N-Ras defect, N-Ras ALPS
|
|
RNF2 |
ring finger protein 2 |
- Oxidative Stress Induced Senescence
- SUMOylation of DNA damage response and repair proteins
- SUMOylation of transcription cofactors
- SUMOylation of chromatin organization proteins
- SUMOylation of RNA binding proteins
- SUMOylation of DNA methylation proteins
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- Regulation of PTEN gene transcription
- Regulation of PTEN gene transcription
- Transcriptional Regulation by E2F6
|
|
|
|
CBX4 |
chromobox 4 |
- Oxidative Stress Induced Senescence
- SUMOylation of DNA damage response and repair proteins
- SUMOylation of transcription cofactors
- SUMOylation of chromatin organization proteins
- SUMOylation of RNA binding proteins
- SUMOylation of DNA methylation proteins
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- Regulation of PTEN gene transcription
- Regulation of PTEN gene transcription
|
|
|
|
WDR5 |
WD repeat domain 5 |
- PKMTs methylate histone lysines
- HATs acetylate histones
- HATs acetylate histones
- RMTs methylate histone arginines
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- Neddylation
|
|
|
|
MEN1 |
menin 1 |
- Formation of the beta-catenin:TCF transactivating complex
- SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
- Deactivation of the beta-catenin transactivating complex
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- RHO GTPases activate IQGAPs
- Post-translational protein phosphorylation
|
|
- Carcinoid
- Adrenal carcinoma
- Primary hyperparathyroidism; Familial hyperparathyroidism (HRPT)
- Malignant islet cell carcinoma
|
|
PPIE |
peptidylprolyl isomerase E |
- 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
- Neutrophil degranulation
- mRNA Splicing - Major Pathway
|
|
|
|
RBBP5 |
RB binding protein 5, histone lysine methyltransferase complex subunit |
- Formation of the beta-catenin:TCF transactivating complex
- PKMTs methylate histone lysines
- Deactivation of the beta-catenin transactivating complex
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- Neddylation
|
|
|
|
ASH2L |
ASH2 like, histone lysine methyltransferase complex subunit |
- Formation of the beta-catenin:TCF transactivating complex
- PKMTs methylate histone lysines
- Deactivation of the beta-catenin transactivating complex
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
|
|
|
|
PAF1 |
PAF1 homolog, Paf1/RNA polymerase II complex component |
- Formation of RNA Pol II elongation complex
- RNA Polymerase II Pre-transcription Events
- RNA Polymerase II Transcription Elongation
- E3 ubiquitin ligases ubiquitinate target proteins
|
|
|
|
HCFC1 |
host cell factor C1 |
- Transcriptional activation of mitochondrial biogenesis
- HATs acetylate histones
- UCH proteinases
|
|
|
|
MTM1 |
myotubularin 1 |
- Synthesis of PIPs at the plasma membrane
- Synthesis of PIPs at the early endosome membrane
- Synthesis of PIPs at the late endosome membrane
|
|
|
|
PLXNB1 |
plexin B1 |
- G alpha (12/13) signalling events
- Sema4D mediated inhibition of cell attachment and migration
- Sema4D induced cell migration and growth-cone collapse
|
|
|
|
OXT |
oxytocin/neurophysin I prepropeptide |
- Vasopressin-like receptors
- G alpha (q) signalling events
|
|
|
|
PPP1R15A |
protein phosphatase 1 regulatory subunit 15A |
- Downregulation of TGF-beta receptor signaling
- Response of EIF2AK1 (HRI) to heme deficiency
|
|
|
|
SBF1 |
SET binding factor 1 |
- Synthesis of PIPs at the ER membrane
- RAB GEFs exchange GTP for GDP on RABs
|
|
|
|
SET |
SET nuclear proto-oncogene |
- Condensation of Prophase Chromosomes
- HuR (ELAVL1) binds and stabilizes mRNA
|
|
|
|
KAT8 |
lysine acetyltransferase 8 |
|
|
|