| URN | urn:agi-llid:4287 |
|---|---|
| Total Entities | 0 |
| Connectivity | 376 |
| Name | Atxn3 |
| Description | ataxin 3 |
| Notes | 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 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2009] |
| GO Molecular Function | histone deacetylase activity |
|---|---|
| hydrolase activity | |
| peptidase activity | |
| ubiquitin thiolesterase activity | |
| ubiquitin-specific protease activity | |
| cysteine-type peptidase activity | |
| omega peptidase activity | |
| ubiquitin protein ligase binding | |
| RNA polymerase II regulatory region DNA binding |
| GO Cellular Component | mitochondrial membrane |
|---|---|
| nuclear inclusion body | |
| nucleoplasm | |
| nuclear matrix | |
| mitochondrial matrix | |
| cytoplasm | |
| nucleus |
| GO Biological Process | nucleotide-excision repair |
|---|---|
| histone H3 deacetylation | |
| nervous system development | |
| exploration behavior | |
| cell death | |
| actin cytoskeleton organization | |
| microtubule cytoskeleton organization | |
| intermediate filament cytoskeleton organization | |
| synaptic transmission | |
| regulation of cell-substrate adhesion | |
| cellular response to misfolded protein | |
| cellular response to heat | |
| regulation of transcription, DNA-templated | |
| transcription, DNA-templated | |
| monoubiquitinated protein deubiquitination | |
| misfolded or incompletely synthesized protein catabolic process | |
| ubiquitin-dependent protein catabolic process | |
| proteasome-mediated ubiquitin-dependent protein catabolic process | |
| proteolysis |
| Pathway | Class II Mutations Cause CFTR Misfolding and Degradation in Cystic Fibrosis |
|---|---|
| mitochondrial autophagy pathway |
| Group | nucleotide-excision repair |
|---|---|
| histone H3 deacetylation | |
| histone deacetylase activity | |
| nervous system development | |
| exploration behavior | |
| cell death | |
| actin cytoskeleton organization | |
| microtubule cytoskeleton organization | |
| intermediate filament cytoskeleton organization | |
| synaptic transmission | |
| regulation of cell-substrate adhesion | |
| cellular response to misfolded protein | |
| cellular response to heat | |
| regulation of transcription, DNA-templated | |
| hydrolase activity | |
| peptidase activity | |
| ubiquitin thiolesterase activity | |
| ubiquitin-specific protease activity | |
| cysteine-type peptidase activity | |
| omega peptidase activity | |
| transcription, DNA-templated | |
| monoubiquitinated protein deubiquitination | |
| misfolded or incompletely synthesized protein catabolic process | |
| ubiquitin-dependent protein catabolic process | |
| proteasome-mediated ubiquitin-dependent protein catabolic process | |
| proteolysis | |
| ubiquitin protein ligase binding | |
| RNA polymerase II regulatory region DNA binding | |
| mitochondrial membrane | |
| nuclear inclusion body | |
| nucleoplasm | |
| nuclear matrix | |
| mitochondrial matrix | |
| cytoplasm | |
| nucleus |
| LocusLink ID | 4287 |
|---|---|
| 110616 | |
| 60331 |
| Cell Localization | Nucleus |
|---|---|
| Nucleus matrix |
| GO ID | 0001012 |
|---|---|
| 0008242 | |
| 0031625 | |
| 0004221 | |
| 0004843 | |
| 0030036 | |
| 0008219 | |
| 0034605 | |
| 0071218 | |
| 0035640 | |
| 0070932 | |
| 0045104 | |
| 0000226 | |
| 0006515 | |
| 0035520 | |
| 0007399 | |
| 0006289 | |
| 0043161 | |
| 0010810 | |
| 0006355 | |
| 0007268 | |
| 0006351 | |
| 0005737 | |
| 0005759 | |
| 0031966 | |
| 0042405 | |
| 0016363 | |
| 0005654 | |
| 0008234 | |
| 0004407 | |
| 0016787 | |
| 0008233 | |
| 0006508 | |
| 0006511 | |
| 0005634 |
| Alias | AT3 |
|---|---|
| JOS | |
| MJD | |
| ATX3 | |
| MJD1 | |
| SCA3 | |
| RP11-529H20.5 | |
| ataxin-3 | |
| josephin | |
| ataxin 3 variant h | |
| ataxin 3 variant m | |
| ataxin 3 variant ref | |
| olivopontocerebellar ataxia 3 | |
| Machado-Joseph disease protein 1 | |
| spinocerebellar ataxia type 3 protein | |
| Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3) | |
| AI463012 | |
| AI647473 | |
| 2210008M02Rik | |
| machado-Joseph disease protein 1 homolog | |
| Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3) homolog | |
| Rsca3 | |
| Machado-Joseph disease protein | |
| spinocerebellar ataxia 3 gene | |
| Machado-Joseph disease 1 gene | |
| spinocerebellar ataxia 3 homolog (human) | |
| spinocerebellar ataxia 3 homolog | |
| spinocerebellar ataxia III gene | |
| olivopontocerebellar ataxia III protein | |
| SCA3 protein | |
| OTTHUMP00000221584 | |
| Machado-Joseph disease gene | |
| spinocerebellar ataxia 3 protein | |
| spinocerebellar ataxia III protein | |
| SCA3 gene | |
| RIKEN cDNA 2210008M02 gene | |
| olivopontocerebellar ataxia III gene | |
| ataxin 3 isoform 2 | |
| ataxin 3 isoform I | |
| ataxin 3 isoform II | |
| 2210008M02 | |
| olivopontocerebellar ataxia 3 protein | |
| ataxin 3 isoform 1 | |
| ataxin III | |
| atxn3 | |
| MJD I | |
| olivopontocerebellar ataxia 3 gene | |
| ataxin 3 | |
| MJD protein | |
| MJD gene | |
| Machado-Joseph disease protein I | |
| machado-joseph disease (spinocerebellar ataxia 3) protein | |
| machado-joseph disease (spinocerebellar ataxia 3) gene |
| Mouse chromosome position | 12 |
|---|
| OMIM ID | 607047 |
|---|---|
| 109150 |
| Rat chromosome position | 6q32 |
|---|
| Hugo ID | 7106 |
|---|
| Human chromosome position | 14q21 |
|---|
| Swiss-Prot Accession | P54252 |
|---|---|
| E9Q717 | |
| Q5M8S1 | |
| Q810M8 | |
| Q546X9 | |
| Q9CVD2 | |
| O35815 | |
| A7LFZ5 | |
| D6RDL9 | |
| E9PB63 | |
| O15284 | |
| O15285 | |
| O15286 | |
| Q8N189 | |
| Q96TC3 | |
| Q96TC4 | |
| Q9H3N0 |
| PIR ID | S50830 |
|---|
| Unigene ID | Hs.532632 |
|---|---|
| Mm.271914 | |
| Rn.42932 |
| KEGG ID | hsa:4287 |
|---|---|
| mmu:110616 | |
| rno:60331 |
| Swiss-Prot ID | ATX3_MOUSE |
|---|---|
| ATX3_HUMAN | |
| ATX3_RAT |
| EC Number | 3.4.19.12 |
|---|
| Ensembl ID | ENSG00000066427 |
|---|---|
| ENSP00000389376 | |
| ENST00000429774 | |
| ENSP00000445618 | |
| ENST00000545170 | |
| ENSP00000437157 | |
| ENST00000532032 | |
| ENSP00000451385 | |
| ENST00000554592 | |
| ENSP00000451996 | |
| ENST00000553491 | |
| ENSP00000451417 | |
| ENST00000554672 | |
| ENSMUSG00000021189 | |
| ENSMUSP00000125378 | |
| ENSMUST00000161011 | |
| ENSMUSP00000021606 | |
| ENSMUST00000021606 | |
| ENSMUSP00000125082 | |
| ENSMUST00000160251 | |
| ENSRNOG00000005470 | |
| ENSRNOP00000007505 | |
| ENSRNOT00000007505 |
| Homologene ID | 3658 |
|---|
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| MGI ID | 1099442 |
|---|
| RGD ID | 621567 |
|---|
| MedScan ID | 4287 |
|---|