ATXN1 - Wiki-MPM

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	SGMS1	sphingomyelin synthase 1	Sphingolipid de novo biosynthesis
Novel	SIX5	SIX homeobox 5			Contiguous gene deletion syndrome involving EYA1, including: Oto-facio-cervical syndrome (OFC); Branchiootic syndrome 1 (BOS1); Branchio-oto-renal syndrome (BOR)
Novel	SLC25A51	solute carrier family 25 member 51	Nicotinate metabolism
Novel	SLC4A2	solute carrier family 4 member 2	Bicarbonate transporters
Novel	SLC51A	solute carrier family 51 member A	Recycling of bile acids and salts
Novel	SLC6A13	solute carrier family 6 member 13	SLC-mediated transport of neurotransmitters Reuptake of GABA	Guvacine
Novel	SMARCC2	SWI/SNF related BAF chromatin remodeling complex subunit C2	RMTs methylate histone arginines RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known Regulation of MITF-M-dependent genes involved in pigmentation Regulation of MITF-M-dependent genes involved in pigmentation Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs) Formation of the polybromo-BAF (pBAF) complex Formation of the embryonic stem cell BAF (esBAF) complex Formation of the non-canonical BAF (ncBAF) complex Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF) Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
Novel	SORCS3	sortilin related VPS10 domain containing receptor 3
Novel	SOX3	SRY-box transcription factor 3	Deactivation of the beta-catenin transactivating complex		Pituitary Dwarfism (PD); Isolated growth hormone deficiency (IGHD); Short Stature and Pituitary Defects (SSPD); Insulin-like growth factor 1 deficiency (IGFD) Septo-optic dysplasia 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)
Novel	SPEN	spen family transcriptional repressor	RHOBTB1 GTPase cycle
Novel	SREBF1	sterol regulatory element binding transcription factor 1	Cholesterol biosynthesis FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes RORA,B,C and NR1D1 (REV-ERBA) regulate gene expression	Doconexent Omega-3-acid ethyl esters Omega-3 fatty acids Fish oil
Novel	SREBF2	sterol regulatory element binding transcription factor 2	Regulation of cholesterol biosynthesis by SREBP (SREBF) Regulation of cholesterol biosynthesis by SREBP (SREBF) Cholesterol biosynthesis PPARA activates gene expression Activation of gene expression by SREBF (SREBP) Activation of gene expression by SREBF (SREBP) Transcriptional regulation of white adipocyte differentiation EGR2 and SOX10-mediated initiation of Schwann cell myelination
Novel	ST6GALNAC6	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	Sialic acid metabolism Lewis blood group biosynthesis Glycosphingolipid biosynthesis
Novel	STAC2	SH3 and cysteine rich domain 2
Novel	STAM2	signal transducing adaptor molecule 2	EGFR downregulation Ub-specific processing proteases Negative regulation of MET activity Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis InlB-mediated entry of Listeria monocytogenes into host cell RHOU GTPase cycle Endosomal Sorting Complex Required For Transport (ESCRT)
Novel	SUGP2	SURP and G-patch domain containing 2
Novel	SUMO1	small ubiquitin like modifier 1	SUMO is conjugated to E1 (UBA2:SAE1) SUMO is transferred from E1 to E2 (UBE2I, UBC9) SUMO is proteolytically processed SUMOylation of DNA damage response and repair proteins SUMOylation of transcription factors SUMOylation of transcription factors SUMOylation of ubiquitinylation proteins SUMOylation of transcription cofactors SUMOylation of transcription cofactors SUMOylation of SUMOylation proteins SUMOylation of intracellular receptors SUMOylation of intracellular receptors SUMOylation of chromatin organization proteins SUMOylation of chromatin organization proteins SUMOylation of RNA binding proteins SUMOylation of DNA replication proteins SUMOylation of DNA replication proteins SUMOylation of DNA methylation proteins SUMOylation of DNA methylation proteins SUMOylation of immune response proteins Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Formation of Incision Complex in GG-NER Regulation of IFNG signaling Negative regulation of activity of TFAP2 (AP-2) family transcription factors Negative regulation of activity of TFAP2 (AP-2) family transcription factors Postmitotic nuclear pore complex (NPC) reformation Maturation of nucleoprotein Maturation of nucleoprotein SUMOylation of nuclear envelope proteins PKR-mediated signaling Transcriptional and post-translational regulation of MITF-M expression and activity
Novel	SUPT20H	SPT20 homolog, SAGA complex component	HATs acetylate histones
Novel	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
Novel	SYBU	syntabulin

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