Correlation Engine 2.0
Clear Search sequence regions
Bookmark Forward Export SNPs

QuickView for SCA3 (gene)


Gene Symbol:
ATXN3 Homo sapiens Homo sapiens
Full name:
ataxin 3
Synonyms:
AT3, ATX3, JOS, MJD, MJD1, SCA3, ataxin-3, Machado-Joseph disease protein 1, josephin, olivopontocerebellar ataxia 3, spinocerebellar ataxia type 3 protein
Genomic Location:
Chr 14: 91598883-91642707
Description:
Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onse...
Orthologs:
Mus musculus Rattus norvegicus C. elegans Macaca mulatta Gallus gallus Danio rerio Canis lupus familiaris Pan troglodytes Bos taurus
External Links:
Entrez Gene
Transcription Factor
Binding Sites:
miRNA binding sites
(Source: TargetScan):
Cytogenetic Map:
chr 14
14q32.12





GO Molecular Function

Lys48-specific deubiquitinase activity | enzyme binding | thiol-dependent ubiquitinyl hydrolase activity | hydrolase activity | cysteine-type peptidase activity | catalytic activity | ubiquitin-like protein ligase binding | ATPase binding | thiol-dependent ubiquitin-specific protease activity | Lys63-specific deubiquitinase activity | protein binding | ubiquitinyl hydrolase activity | ubiquitin protein ligase binding | peptidase activity

GO Biological Process

protein modification by small protein removal | RNA metabolic process | actin filament-based process | response to endoplasmic reticulum stress | proteolysis | actin cytoskeleton organization | microtubule cytoskeleton organization | response to misfolded protein | nervous system development | positive regulation of protein catabolic process | microtubule-based process | cellular process | organic substance catabolic process | localization | proteolysis involved in cellular protein catabolic process | chemical synaptic transmission | macromolecule localization | regulation of proteolysis | Lys48-specific deubiquitinase activity | positive regulation of nitrogen compound metabolic process | regulation of cellular process | regulation of metabolic process | catabolic process | organic cyclic compound metabolic process | positive regulation of cellular protein metabolic process | RNA biosynthetic process | response to topologically incorrect protein | cellular aromatic compound metabolic process | cellular component organization | protein localization to cytosolic proteasome complex involved in ERAD pathway | protein deubiquitination | cellular response to topologically incorrect protein | thiol-dependent ubiquitinyl hydrolase activity | positive regulation of cellular protein catabolic process | response to stimulus | positive regulation of protein metabolic process | regulation of cellular protein catabolic process | response to stress | regulation of response to endoplasmic reticulum stress | cellular nitrogen compound biosynthetic process | positive regulation of proteolysis involved in cellular protein catabolic process | cellular protein catabolic process | response to temperature stimulus | positive regulation of proteolysis | cellular nitrogen compound metabolic process | proteasomal protein catabolic process | protein K48-linked deubiquitination | protein modification process | regulation of cell adhesion | cellular biosynthetic process | macromolecule modification | cell-cell signaling | cysteine-type peptidase activity | DNA repair | regulation of nucleic acid-templated transcription | regulation of cellular response to stress | response to nitrogen compound | system development | nitrogen compound metabolic process | multicellular organism development | cellular response to DNA damage stimulus | regulation of gene expression | cellular response to stress | protein catabolic process | synaptic signaling | cellular response to heat | positive regulation of cellular metabolic process | regulation of nitrogen compound metabolic process | regulation of cell-substrate adhesion | biosynthetic process | regulation of cellular protein metabolic process | aromatic compound biosynthetic process | positive regulation of proteasomal protein catabolic process | thiol-dependent ubiquitin-specific protease activity | cell communication | regulation of cellular metabolic process | regulation of protein metabolic process | regulation of RNA metabolic process | proteasome-mediated ubiquitin-dependent protein catabolic process | Lys63-specific deubiquitinase activity | ERAD pathway | protein metabolic process | protein K63-linked deubiquitination | response to organic substance | DNA metabolic process | cellular macromolecule catabolic process | anatomical structure development | metabolic process | nucleotide-excision repair | regulation of protein catabolic process | regulation of RNA biosynthetic process | protein quality control for misfolded or incompletely synthesized proteins | regulation of proteasomal protein catabolic process | intermediate filament-based process | nucleobase-containing compound metabolic process | organic substance metabolic process | regulation of ERAD pathway | gene expression | response to heat | protein modification by small protein conjugation or removal | cytoskeleton organization | transcription, DNA-templated | ubiquitin-dependent protein catabolic process | organonitrogen compound catabolic process | signaling | regulation of transcription, DNA-templated | protein localization | cellular protein metabolic process | positive regulation of ERAD pathway | cellular macromolecule biosynthetic process | developmental process | organelle organization | cellular protein modification process | intermediate filament cytoskeleton organization | response to organonitrogen compound | heterocycle metabolic process | positive regulation of metabolic process | cellular response to misfolded protein | cellular metabolic process | peptidase activity | cellular response to organic substance | modification-dependent protein catabolic process | monoubiquitinated protein deubiquitination | macromolecule metabolic process | positive regulation of response to endoplasmic reticulum stress | multicellular organismal process

GO Cellular Component

nuclear inclusion body | mitochondrial matrix | intracellular membrane-bounded organelle | organelle membrane | cell | nuclear lumen | nucleolus | cytoplasm | intracellular organelle | endoplasmic reticulum | inclusion body | nuclear outer membrane-endoplasmic reticulum membrane network | endomembrane system | endoplasmic reticulum membrane | nucleoplasm | plasma membrane | mitochondrion | membrane-bounded organelle | nucleus | organelle | mitochondrial envelope | cell periphery | membrane-enclosed lumen | nuclear matrix | mitochondrial membrane | cytosol | intracellular | membrane | nuclear periphery