ATXN3

Gene Name		ataxin 3
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Gene Ontology Annotations	Cellular Component	Nucleus Nucleoplasm Cytoplasm Mitochondrial Matrix Cytosol Nuclear Matrix Mitochondrial Membrane Nuclear Inclusion Body
	Molecular Function	Ubiquitin-specific Protease Activity Protein Binding Omega Peptidase Activity Ubiquitin Protein Ligase Binding Identical Protein Binding ATPase Binding Lys63-specific Deubiquitinase Activity Lys48-specific Deubiquitinase Activity
	Biological Process	Microtubule Cytoskeleton Organization Nucleotide-excision Repair Transcription, DNA-templated Regulation Of Transcription, DNA-templated Ubiquitin-dependent Protein Catabolic Process Misfolded Or Incompletely Synthesized Protein Catabolic Process Synaptic Transmission Nervous System Development Regulation Of Cell-substrate Adhesion Actin Cytoskeleton Organization Cellular Response To Heat Monoubiquitinated Protein Deubiquitination Proteasome-mediated Ubiquitin-dependent Protein Catabolic Process Intermediate Filament Cytoskeleton Organization Protein K63-linked Deubiquitination Protein K48-linked Deubiquitination Cellular Response To Misfolded Protein
Pathways
Drugs
Diseases
GWAS		Height ( 18391950 18391951) Orofacial clefts ( 22419666)
Protein-protein Interactions		43 interactors: ANXA7 APP ARHGAP19 ARHGDIA ASIC1 C16orf70 CASP1 CDKN1A CSNK2B DNM2 EWSR1 GSK3B HDAC6 KAT2B MKNK1 NCOR1 PARK2 PICK1 PJA1 PSMD7 RAD23A RAD23B RFFL RPS6KA1 SQSTM1 STUB1 SUMO1 TEX11 TK1 TRAF6 TRIM54 TRIM55 TRIM63 TUBA1A TUBB UBB UBC UBE2L3 UBE2S UBE4B UBQLN1 USP21 VCP
Entrez ID		4287
HPRD ID		06131
Ensembl ID		ENSG00000066427
Uniprot IDs		P54252
PDB IDs		1YZB 2AGA 2DOS 2JRI 2KLZ
Enriched GO Terms of Interacting Partners?		Regulation Of Cellular Protein Metabolic Process Regulation Of Protein Metabolic Process Ubiquitin-dependent Protein Catabolic Process Protein Catabolic Process Modification-dependent Protein Catabolic Process Proteasome-mediated Ubiquitin-dependent Protein Catabolic Process Proteasomal Protein Catabolic Process Proteolysis Involved In Cellular Protein Catabolic Process Cellular Protein Catabolic Process Regulation Of Proteolysis Protein Modification By Small Protein Conjugation Protein Polyubiquitination Cellular Macromolecule Catabolic Process Protein Ubiquitination Cellular Response To Organic Substance Positive Regulation Of Cellular Protein Metabolic Process Response To Organic Substance Positive Regulation Of Cellular Metabolic Process Cellular Protein Modification Process Regulation Of Catalytic Activity Cellular Protein Metabolic Process Positive Regulation Of Protein Metabolic Process Response To Stimulus Cellular Response To Stimulus Positive Regulation Of Metabolic Process Proteolysis Regulation Of Protein Catabolic Process Regulation Of Proteasomal Protein Catabolic Process Regulation Of Protein Ubiquitination Positive Regulation Of Proteolysis Positive Regulation Of Protein Ubiquitination Positive Regulation Of Proteolysis Involved In Cellular Protein Catabolic Process Response To Abiotic Stimulus Cellular Response To Stress Positive Regulation Of Protein Modification Process Positive Regulation Of Cellular Protein Catabolic Process Regulation Of Cell Death Catabolic Process Response To Growth Factor Protein Metabolic Process Regulation Of Metabolic Process Apoptotic Process Programmed Cell Death Regulation Of Apoptotic Process Cell Death Death Positive Regulation Of Ubiquitin-protein Transferase Activity Cellular Response To Growth Factor Stimulus Neurotrophin TRK Receptor Signaling Pathway Positive Regulation Of Protein Catabolic Process
Tagcloud ?		14q32 amplifies ataxia atm atnx3 break breaks cag deposited eventually expansions glutamine inactivated inefficient joseph machado mjd neurodegeneration nonetheless pnkp polymorphic polynucleotide polyq sca3 spinocerebellar strand telangiectasia tri untreatable