ATXN1 - Wiki-MPM

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	C7	complement C7	Terminal pathway of complement Regulation of Complement cascade		Late complement pathway defects, including the following seven diseases: C5 deficiency; C6 deficiency; C7 deficiency; C8 alpha-chain deficiency; C8 beta-chain deficiency; C8 gamma-chain deficiency; C9 deficiency
Novel	CNOT6L	CCR4-NOT transcription complex subunit 6 like	Deadenylation of mRNA TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain
Novel	PITX3	paired like homeodomain 3
Novel	RPL19	ribosomal protein L19	L13a-mediated translational silencing of Ceruloplasmin expression Peptide chain elongation SRP-dependent cotranslational protein targeting to membrane SRP-dependent cotranslational protein targeting to membrane Viral mRNA Translation Selenocysteine synthesis Major pathway of rRNA processing in the nucleolus and cytosol Formation of a pool of free 40S subunits GTP hydrolysis and joining of the 60S ribosomal subunit Eukaryotic Translation Termination Regulation of expression of SLITs and ROBOs Response of EIF2AK4 (GCN2) to amino acid deficiency Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	(S)-3-phenyllactic acid Anisomycin Puromycin
Novel	XPO7	exportin 7
	NPHP3	nephrocystin 3	Trafficking of myristoylated proteins to the cilium		Senior-Loken syndrome Renal-hepatic-pancreatic dysplasia Nephronophthisis-medullary cystic kidney disease, including; Nephronophthisis (NPH) ; Nephronophthisis-like nephropathy 1; Medullary cystic kidney disease 1; Medullary cystic kidney disease 2 (MSKD2) Meckel syndrome (MKS); Meckel-Gruber syndrome
	SOX3	SRY-box transcription factor 3	Deactivation of the beta-catenin transactivating complex		Septo-optic dysplasia Pituitary Dwarfism (PD); Isolated growth hormone deficiency (IGHD); Short Stature and Pituitary Defects (SSPD); Insulin-like growth factor 1 deficiency (IGFD) 46,XX disorders of sex development (Disorders of gonadal development), including: Ovotesticular DSD; Testicular DSD; Ovarian dysgenesis Syndromic X-linked mental retardation, including: Turner type (MRXST); Siderius type (MRXSSD) ; Cabezas type (MRXC); Raymond type (MRXSR); Type10 (MRXS10); Type14 (MRXS14); Mental retardation with isolated growth hormone deficiency (MRGH)
	CRX	cone-rod homeobox			Leber congenital amaurosis (LCR) Cone-rod dystrophy and cone dystrophy, including: Cone-rod dystrophy (CORD); Cone dystrophy (COD); Retinal cone dystrophy (RCD)
	ETV4	ETS variant transcription factor 4	MAPK6/MAPK4 signaling		Ewing's sarcoma Prostate cancer
	MSX2	msh homeobox 2	Regulation of RUNX2 expression and activity		Enlarged parietal foramina/cranium bifidum Craniosynostosis, including: Pfeiffer syndrome; Apert syndrome; Crouzon syndrome; Jackson-Weiss syndrome; Beare-Stevenson syndrome; Muenke craniosynostosis; Saethre-Chotzen syndrome; Craniosynostosis Boston type; Antley-Bixler syndrome; Carpenter syndrome; Craniofrontonasal dysplasia; Noonan syndrome; Baller-Gerold syndrome
	OTX2	orthodenticle homeobox 2			Anophthalmia and microphthalmia (A/M) Septo-optic dysplasia
	PQBP1	polyglutamine binding protein 1	mRNA Splicing - Major Pathway		Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS) Non-syndromic X-linked mental retardation
	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
	AKT1	AKT serine/threonine kinase 1	Activation of BAD and translocation to mitochondria PIP3 activates AKT signaling PIP3 activates AKT signaling Downregulation of ERBB2:ERBB3 signaling Translocation of SLC2A4 (GLUT4) to the plasma membrane Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation MTOR signalling AKT phosphorylates targets in the cytosol AKT phosphorylates targets in the cytosol AKT phosphorylates targets in the nucleus Negative regulation of the PI3K/AKT network eNOS activation AKT-mediated inactivation of FOXO1A Integrin signaling Deactivation of the beta-catenin transactivating complex CD28 dependent PI3K/Akt signaling CTLA4 inhibitory signaling G beta:gamma signalling through PI3Kgamma Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA KSRP (KHSRP) binds and destabilizes mRNA VEGFR2 mediated vascular permeability TP53 Regulates Metabolic Genes Constitutive Signaling by AKT1 E17K in Cancer Interleukin-4 and Interleukin-13 signaling Regulation of TP53 Degradation Regulation of TP53 Activity through Acetylation Regulation of TP53 Activity through Association with Co-factors PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling Cyclin E associated events during G1/S transition Cyclin A:Cdk2-associated events at S phase entry PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 RAB GEFs exchange GTP for GDP on RABs RUNX2 regulates genes involved in cell migration Regulation of PTEN stability and activity Extra-nuclear estrogen signaling Negative regulation of NOTCH4 signaling FLT3 Signaling Regulation of localization of FOXO transcription factors Estrogen-dependent nuclear events downstream of ESR-membrane signaling	ATP Arsenic trioxide Genistein Inositol 1,3,4,5-Tetrakisphosphate Resveratrol Archexin Enzastaurin Perifosine N-[2-(5-methyl-4H-1,2,4-triazol-3-yl)phenyl]-7H-pyrrolo[2,3-d]pyrimidin-4-amine 5-(5-chloro-7H-pyrrolo[2,3-d]pyrimidin-4-yl)-4,5,6,7-tetrahydro-1H-imidazo[4,5-c]pyridine	PTEN hamartoma tumor syndrome (PHTS), including: Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome; Proteus syndrome; Proteus-like syndrome
	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)
	ATXN2	ataxin 2			Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)
	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
	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)
	DMPK	DM1 protein kinase	Ion homeostasis	Bisindolylmaleimide VIII	Myotonic dystrophy (DM)
	EFEMP2	EGF containing fibulin extracellular matrix protein 2	Molecules associated with elastic fibres Molecules associated with elastic fibres		Cutis laxa, including: Autosomal dominant cutis laxa (ADCL); Autosomal recessive cutis laxa I (ARCL1); Autosomal recessive cutis laxa II (ARCL2); X-linked recessive cutis laxa (XRCL); Wrinkly skin syndrome

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