PSEN1 - New-wiki

Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
RAB11A	RAB11A, member RAS oncogene family	Translocation of SLC2A4 (GLUT4) to the plasma membrane Vasopressin regulates renal water homeostasis via Aquaporins Anchoring of the basal body to the plasma membrane VxPx cargo-targeting to cilium TBC/RABGAPs RAB geranylgeranylation	5'-Guanosine-Diphosphate-Monothiophosphate Guanosine-5'-Diphosphate
RAB3A	RAB3A, member RAS oncogene family	Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle Glutamate Neurotransmitter Release Cycle Dopamine Neurotransmitter Release Cycle Acetylcholine Neurotransmitter Release Cycle Neutrophil degranulation RAB geranylgeranylation RAB GEFs exchange GTP for GDP on RABs GABA synthesis, release, reuptake and degradation
RAD23A	RAD23 homolog A, nucleotide excision repair protein	Josephin domain DUBs DNA Damage Recognition in GG-NER Formation of Incision Complex in GG-NER
RHEB	Ras homolog, mTORC1 binding	Macroautophagy MTOR signalling mTORC1-mediated signalling Energy dependent regulation of mTOR by LKB1-AMPK TP53 Regulates Metabolic Genes Regulation of PTEN gene transcription Amino acids regulate mTORC1	Guanosine-5'-Triphosphate Guanosine-5'-Diphosphate
RMDN3	regulator of microtubule dynamics 3
RNF32	ring finger protein 32
RYR2	ryanodine receptor 2	Stimuli-sensing channels Ion homeostasis	Flecainide Tetracaine	Arrhythmogenic right ventricular cardiomyopathy (ARVC) Catecholaminergic polymorphic ventricular tachycardia
SCAF11	SR-related CTD associated factor 11
SCN1A	sodium voltage-gated channel alpha subunit 1	Interaction between L1 and Ankyrins Phase 0 - rapid depolarisation	Ranolazine Phenytoin Topiramate Valproic acid Lamotrigine Carbamazepine Oxcarbazepine Cocaine Zonisamide Promethazine Phenacemide Phenazopyridine Nitrazepam Permethrin Tetrodotoxin Brivaracetam Tetracaine Amylocaine Propoxycaine Pramocaine Pentoxyverine Dichlorobenzyl alcohol Bioallethrin Fish oil	Febrile seizures, including: Febrile convulsions; Generalized epilepsy with febrile seizure plus (GEFS+); Dravet syndrome/ Severe myoclonic epilepsy in infancy (SMEI) Familial or sporadic hemiplegic migraine
SLC10A6	solute carrier family 10 member 6	Transport of bile salts and organic acids, metal ions and amine compounds
ST13	ST13 Hsp70 interacting protein	Regulation of HSF1-mediated heat shock response
STAMBPL1	STAM binding protein like 1	Metalloprotease DUBs
TCF7L2	transcription factor 7 like 2	Formation of the beta-catenin:TCF transactivating complex Formation of the beta-catenin:TCF transactivating complex Deactivation of the beta-catenin transactivating complex Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) Ca2+ pathway Binding of TCF/LEF:CTNNB1 to target gene promoters Repression of WNT target genes Repression of WNT target genes Signaling by TCF7L2 mutants Transcriptional Regulation by VENTX RUNX3 regulates WNT signaling		Type II diabetes mellitus
TDP2	tyrosyl-DNA phosphodiesterase 2	Nonhomologous End-Joining (NHEJ)
TUBA1B	tubulin alpha 1b	Translocation of SLC2A4 (GLUT4) to the plasma membrane Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane Gap junction assembly MHC class II antigen presentation Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion HSP90 chaperone cycle for steroid hormone receptors (SHR) Recruitment of NuMA to mitotic centrosomes Formation of tubulin folding intermediates by CCT/TriC Post-chaperonin tubulin folding pathway Recycling pathway of L1 Recycling pathway of L1 Hedgehog 'off' state Cilium Assembly Intraflagellar transport RHO GTPases activate IQGAPs RHO GTPases Activate Formins COPI-mediated anterograde transport COPI-dependent Golgi-to-ER retrograde traffic COPI-independent Golgi-to-ER retrograde traffic Mitotic Prometaphase The role of GTSE1 in G2/M progression after G2 checkpoint Carboxyterminal post-translational modifications of tubulin Carboxyterminal post-translational modifications of tubulin HCMV Early Events Assembly and cell surface presentation of NMDA receptors Activation of AMPK downstream of NMDARs Aggrephagy Aggrephagy EML4 and NUDC in mitotic spindle formation Sealing of the nuclear envelope (NE) by ESCRT-III Kinesins	Epothilone D Patupilone CYT997 2-MERCAPTO-N-[1,2,3,10-TETRAMETHOXY-9-OXO-5,6,7,9-TETRAHYDRO-BENZO[A]HEPTALEN-7-YL]ACETAMIDE
UBQLN1	ubiquilin 1	Cargo recognition for clathrin-mediated endocytosis
UMPS	uridine monophosphate synthetase	Pyrimidine biosynthesis	6-hydroxyuridine-5'-phosphate	Orotic aciduria
YME1L1	YME1 like 1 ATPase	Processing of SMDT1

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