Tbio ATXN3 Ataxin-3

Protein Summary

Description

Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates (PubMed:12297501, PubMed:17696782, PubMed:23625928, PubMed:28445460, PubMed:16118278). Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins (PubMed:17696782). Involved in degradation of misfolded chaperone substrates via its interaction with STUB1/CHIP: recruited to monoubiquitinated STUB1/CHIP, and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension (By similarity). Interacts with key regulators of transcription and represses transcription: acts as a histone-binding protein that regulates transcription (PubMed:12297501). Regulates autophagy via the deubiquitination of 'Lys-402' of BECN1 leading to the stabilization of BECN1 (PubMed:28445460). 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 onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2016]

Uniprot Accession IDs

• P54252
• A7LFZ5
• D6RDL9
• E9PB63
• O15284
• O15285
• O15286
• Q8N189
• Q96TC3
• Q96TC4
• Q9H3N0

Gene Name

• ATXN3

Ensembl ID

• ENST00000340660
• ENSP00000339110
• ENSG00000066427
• ENST00000502250
• ENSP00000425322
• ENST00000503767
• ENSP00000426697
• ENST00000532032
• ENSP00000437157
• ENST00000558190
• ENSP00000478320
• ENST00000644486
• ENSP00000496695

Symbol

• ATX3
• MJD
• MJD1
• SCA3
• AT3
• JOS
• MJD
• ATX3
• MJD1
• SCA3

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
co-expressed gene	1
microRNA	0.84
biological process	0.8
virus perturbation	0.79
transcription factor binding site profile	0.78

Protein Classes

PANTHER Classes

Protein / Transcription Factor / Ataxin-3

Protein / ... / Cysteine Protease / Ataxin-3

DTO Classes

Protein / Enzyme / Protease / Cysteine Protease / Ataxin-3

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 546.15   (req: < 5)

Gene RIFs: 187   (req: <= 3)

Antibodies: 302   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 546.15   (req: >= 5)

Gene RIFs: 187   (req: > 3)

Antibodies: 302   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 29

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0