ATXN1 - Wiki-MPM

Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
HEY2	hes related family bHLH transcription factor with YRPW motif 2	NOTCH1 Intracellular Domain Regulates Transcription Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants RUNX2 regulates osteoblast differentiation NOTCH3 Intracellular Domain Regulates Transcription NOTCH4 Intracellular Domain Regulates Transcription
PLA2G10	phospholipase A2 group X	Acyl chain remodelling of PC Acyl chain remodelling of PS Acyl chain remodelling of PE Acyl chain remodelling of PI Acyl chain remodelling of PG Synthesis of PA	Varespladib methyl Crotalus adamanteus antivenin Agkistrodon piscivorus antivenin
EHMT1	euchromatic histone lysine methyltransferase 1	Senescence-Associated Secretory Phenotype (SASP) PKMTs methylate histone lysines Regulation of TP53 Activity through Methylation Transcriptional Regulation by VENTX Transcriptional Regulation by E2F6		Kleefstra syndrome; 9q Subtelomeric deletion syndrome
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
IGF2R	insulin like growth factor 2 receptor	Golgi Associated Vesicle Biogenesis Neutrophil degranulation Retrograde transport at the Trans-Golgi-Network Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis	Mecasermin alpha-D-mannose 6-phosphate Cerliponase alfa Mecasermin rinfabate	Hepatocellular carcinoma
TSC1	TSC complex subunit 1	Macroautophagy Inhibition of TSC complex formation by PKB Energy dependent regulation of mTOR by LKB1-AMPK TP53 Regulates Metabolic Genes TBC/RABGAPs		Lymphangioleiomyomatosis (LAM) Tuberous sclerosis complex (TSC); Bourneville-Pringle disease
ASNS	asparagine synthetase (glutamine-hydrolyzing)	ATF4 activates genes in response to endoplasmic reticulum stress Aspartate and asparagine metabolism Response of EIF2AK4 (GCN2) to amino acid deficiency Response of EIF2AK1 (HRI) to heme deficiency	Aspartic acid Glutamic acid ATP Asparagine
CPSF7	cleavage and polyadenylation specific factor 7	mRNA Splicing - Major Pathway mRNA 3'-end processing RNA Polymerase II Transcription Termination Processing of Intronless Pre-mRNAs
CST3	cystatin C	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Neutrophil degranulation Post-translational protein phosphorylation Amyloid fiber formation		Macular degeneration, including: Age-related macular degeneration (ARMD); Patterned dystrophy of retinal pigment epithelium (PDREP); Retinal macular dystrophy 2 (MCDR2); X-linked atrophic macular degeneration (MDXLA)
HEYL	hes related family bHLH transcription factor with YRPW motif like	NOTCH1 Intracellular Domain Regulates Transcription Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants NOTCH3 Intracellular Domain Regulates Transcription
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)
MED15	mediator complex subunit 15	PPARA activates gene expression Generic Transcription Pathway Transcriptional regulation of white adipocyte differentiation Transcriptional regulation of white adipocyte differentiation
MYO18A	myosin XVIIIA	Signaling by cytosolic FGFR1 fusion mutants Signaling by FGFR1 in disease Signaling by FLT3 fusion proteins Signaling by FLT3 fusion proteins
NUDT21	nudix hydrolase 21	mRNA Splicing - Major Pathway mRNA 3'-end processing RNA Polymerase II Transcription Termination Processing of Intronless Pre-mRNAs
RAPGEF4	Rap guanine nucleotide exchange factor 4	Integrin signaling Glucagon-like Peptide-1 (GLP1) regulates insulin secretion Rap1 signalling Regulation of insulin secretion
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
U2AF2	U2 small nuclear RNA auxiliary factor 2	Transport of Mature mRNA derived from an Intron-Containing Transcript mRNA Splicing - Major Pathway mRNA 3'-end processing RNA Polymerase II Transcription Termination
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)
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
KIF22	kinesin family member 22	MHC class II antigen presentation COPI-dependent Golgi-to-ER retrograde traffic Kinesins

Search Results for: ATXN1