InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ATXN3

Summary

InnateDB Protein

IDBP-243904.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ATXN3

Protein Name

ataxin 3

Synonyms

AT3; ATX3; JOS; MJD; MJD1; SCA3;

Species

Homo sapiens

Ensembl Protein

ENSP00000376965

InnateDB Gene

IDBG-16734 (ATXN3)

Protein Structure

UniProt Annotation

Function

Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates. Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins. 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. In response to misfolded substrate ubiquitination, mediates deubiquitination of monoubiquitinated STUB1/CHIP. Interacts with key regulators of transcription and represses transcription: acts as a histone- binding protein that regulates transcription. {ECO:0000269PubMed:12297501, ECO:0000269PubMed:16118278, ECO:0000269PubMed:17696782, ECO:0000269PubMed:23625928}.

Subcellular Localization

Nucleus matrix {ECO:0000269PubMed:9580663}. Note=Predominantly nuclear, but not exclusively, inner nuclear matrix.

Disease Associations

Spinocerebellar ataxia 3 (SCA3) [MIM:109150]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA3 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. The molecular defect in SCA3 is the a CAG repeat expansion in ATX3 coding region. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. {ECO:0000269PubMed:7874163}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 107 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.

Experimentally validated
Total	107 [view]
Protein-Protein	107 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	9 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004221	ubiquitin thiolesterase activity
GO:0004843	ubiquitin-specific protease activity
GO:0005515	protein binding
GO:0008242	omega peptidase activity
GO:0031625	ubiquitin protein ligase binding
GO:0042802	identical protein binding
GO:0051117	ATPase binding
GO:0061578	Lys63-specific deubiquitinase activity
GO:1990380	Lys48-specific deubiquitinase activity

Biological Process

GO:0000226	microtubule cytoskeleton organization
GO:0006289	nucleotide-excision repair
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0006508	proteolysis
GO:0006515	misfolded or incompletely synthesized protein catabolic process
GO:0007268	synaptic transmission
GO:0007399	nervous system development
GO:0008219	cell death
GO:0010810	regulation of cell-substrate adhesion
GO:0030036	actin cytoskeleton organization
GO:0035520	monoubiquitinated protein deubiquitination
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0045104	intermediate filament cytoskeleton organization
GO:0070536	protein K63-linked deubiquitination
GO:0071108	protein K48-linked deubiquitination
GO:0071218	cellular response to misfolded protein