ATXN1 - Wiki-MPM

Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
PPAT	phosphoribosyl pyrophosphate amidotransferase	Purine ribonucleoside monophosphate biosynthesis	L-Glutamine Mercaptopurine Dasatinib
SV2A	synaptic vesicle glycoprotein 2A	Toxicity of botulinum toxin type D (botD) Toxicity of botulinum toxin type A (botA) Toxicity of botulinum toxin type F (botF) Toxicity of botulinum toxin type E (botE)	Levetiracetam Brivaracetam Seletracetam
CAMK2B	calcium/calmodulin dependent protein kinase II beta	CaMK IV-mediated phosphorylation of CREB HSF1-dependent transactivation Trafficking of AMPA receptors Unblocking of NMDA receptors, glutamate binding and activation Unblocking of NMDA receptors, glutamate binding and activation CREB1 phosphorylation through the activation of CaMKII/CaMKK/CaMKIV cascasde Ras activation upon Ca2+ influx through NMDA receptor Phase 0 - rapid depolarisation Ion homeostasis RAF activation RAF/MAP kinase cascade Signaling by moderate kinase activity BRAF mutants Signaling by BRAF and RAF fusions Paradoxical activation of RAF signaling by kinase inactive BRAF Interferon gamma signaling Regulation of MECP2 expression and activity Ion transport by P-type ATPases Assembly and cell surface presentation of NMDA receptors Negative regulation of NMDA receptor-mediated neuronal transmission Long-term potentiation Signaling downstream of RAS mutants Signaling by RAF1 mutants	[4-({4-[(5-cyclopropyl-1H-pyrazol-3-yl)amino]-6-(methylamino)pyrimidin-2-yl}amino)phenyl]acetonitrile Fostamatinib
CLCN2	chloride voltage-gated channel 2	Stimuli-sensing channels	Lubiprostone Cobiprostone	Idiopathic generalied epilepsies (IGEs), including: Childhood absence epilepsy (CAE); Juvenile absence epilepsy (JAE); Juvenile myoclonic epilepsy (JME); Epilepsy with generalized tonic-clonic seizures alone
KAT5	lysine acetyltransferase 5	Formation of the beta-catenin:TCF transactivating complex Formation of the beta-catenin:TCF transactivating complex DNA Damage/Telomere Stress Induced Senescence HATs acetylate histones HDR through Single Strand Annealing (SSA) HDR through Homologous Recombination (HRR) Sensing of DNA Double Strand Breaks Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Resolution of D-loop Structures through Holliday Junction Intermediates Nonhomologous End-Joining (NHEJ) Homologous DNA Pairing and Strand Exchange Processing of DNA double-strand break ends Presynaptic phase of homologous DNA pairing and strand exchange Regulation of TP53 Activity through Phosphorylation G2/M DNA damage checkpoint Estrogen-dependent gene expression	Coenzyme A S-Acetyl-Cysteine
VCP	valosin containing protein	Translesion Synthesis by POLH HSF1 activation ABC-family proteins mediated transport N-glycan trimming in the ER and Calnexin/Calreticulin cycle Hedgehog ligand biogenesis Hh mutants are degraded by ERAD Defective CFTR causes cystic fibrosis Josephin domain DUBs Ovarian tumor domain proteases Neutrophil degranulation E3 ubiquitin ligases ubiquitinate target proteins Protein methylation Aggrephagy Attachment and Entry Attachment and Entry	Phosphoaminophosphonic Acid-Adenylate Ester Phenethyl Isothiocyanate	Frontotemporal lobar degeneration (FTLD), including: Pick disease of brain; Frontotemporal dementia (FTD); Ubiquitin-positive frontotemporal dementia (UP-FTD); Progressive supranuclear palsy type 1 (PSNP1); Inclusion body myopathy with early-onset paget disease and frontotemporal dementia (IBMPFD); Frontotemporal dementia, chromosome 3-linked (FTD3)
YWHAE	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	Activation of BAD and translocation to mitochondria Translocation of SLC2A4 (GLUT4) to the plasma membrane Signaling by Hippo NADE modulates death signalling Regulation of PLK1 Activity at G2/M Transition Regulation of HSF1-mediated heat shock response HSF1 activation Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Anchoring of the basal body to the plasma membrane RHO GTPases activate PKNs TP53 Regulates Metabolic Genes Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex AURKA Activation by TPX2 Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models RAB GEFs exchange GTP for GDP on RABs	Fusicoccin Phenethyl Isothiocyanate	Lissencephaly (LIS); Miller-Dieker syndrome (MDLS)
ACACA	acetyl-CoA carboxylase alpha	ChREBP activates metabolic gene expression Biotin transport and metabolism Carnitine metabolism Activation of gene expression by SREBF (SREBP) Defective HLCS causes multiple carboxylase deficiency Fatty acyl-CoA biosynthesis	Biotin
ATF5	activating transcription factor 5	Response of EIF2AK1 (HRI) to heme deficiency	Pseudoephedrine
ATP1A3	ATPase Na+/K+ transporting subunit alpha 3	Ion homeostasis Ion transport by P-type ATPases Potential therapeutics for SARS	Ouabain	Primary torsion dystonia (PTD)
ATP6V0D1	ATPase H+ transporting V0 subunit d1	ROS and RNS production in phagocytes XBP1(S) activates chaperone genes Insulin receptor recycling Transferrin endocytosis and recycling Amino acids regulate mTORC1 Ion channel transport	Tiludronic acid
CAMK1	calcium/calmodulin dependent protein kinase I	Negative regulation of NMDA receptor-mediated neuronal transmission Activation of RAC1 downstream of NMDARs Activation of RAC1 downstream of NMDARs	Fostamatinib
DMPK	DM1 protein kinase	Ion homeostasis	Bisindolylmaleimide VIII	Myotonic dystrophy (DM)
EIF3F	eukaryotic translation initiation factor 3 subunit F	L13a-mediated translational silencing of Ceruloplasmin expression Translation initiation complex formation Formation of a pool of free 40S subunits Formation of the ternary complex, and subsequently, the 43S complex Ribosomal scanning and start codon recognition GTP hydrolysis and joining of the 60S ribosomal subunit	Quercetin
GSPT1	G1 to S phase transition 1	Eukaryotic Translation Termination Eukaryotic Translation Termination 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)	Guanosine-5'-Diphosphate
ITGB4	integrin subunit beta 4	Assembly of collagen fibrils and other multimeric structures Laminin interactions Syndecan interactions Type I hemidesmosome assembly	R1295	Epidermolysis bullosa, junctional, including: Epidermolysis bullosa, junctional, Herlitz type (JEB-H); Epidermolysis bullosa, junctional, non-Herlitz type (JEB-nH); Epidermolysis bullosa, junctional, with pyloric atresia (JEB-PA)
MSMO1	methylsterol monooxygenase 1	Cholesterol biosynthesis	NADH
NARS1	asparaginyl-tRNA synthetase 1	Cytosolic tRNA aminoacylation	Asparagine
OAZ1	ornithine decarboxylase antizyme 1	Regulation of ornithine decarboxylase (ODC)	Ornithine
PML	PML nuclear body scaffold	SUMOylation of DNA damage response and repair proteins SUMOylation of ubiquitinylation proteins Regulation of TP53 Activity through Acetylation Interferon gamma signaling Regulation of RUNX1 Expression and Activity Regulation of PTEN localization HCMV Early Events	Arsenic trioxide	Acute myeloid leukemia (AML)

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