InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ATXN1

Summary

InnateDB Protein

IDBP-362844.4

Last Modified

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

Gene Symbol

ATXN1

Protein Name

ataxin 1

Synonyms

ATX1; D6S504E; SCA1;

Species

Homo sapiens

Ensembl Protein

ENSP00000416360

InnateDB Gene

IDBG-63112 (ATXN1)

Protein Structure

UniProt Annotation

Function

Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism. The expansion of the polyglutamine tract may alter this function. {ECO:0000269PubMed:21475249}.

Subcellular Localization

Cytoplasm {ECO:0000250}. Nucleus {ECO:0000269PubMed:12093161}. Note=Colocalizes with USP7 in the nucleus.

Disease Associations

Spinocerebellar ataxia 1 (SCA1) [MIM:164400]: 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. SCA1 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. SCA1 is caused by expansion of a CAG repeat in the coding region of ATXN1. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. {ECO:0000269PubMed:7951322, ECO:0000269PubMed:8634720}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed throughout the body.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 309 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	309 [view]
Protein-Protein	309 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003723	RNA binding
GO:0005515	protein binding
GO:0008022	protein C-terminus binding
GO:0008266	poly(U) RNA binding
GO:0034046	poly(G) binding
GO:0042802	identical protein binding
GO:0043621	protein self-association

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006396	RNA processing
GO:0008219	cell death
GO:0045892	negative regulation of transcription, DNA-templated
GO:0051168	nuclear export

Cellular Component

GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005737	cytoplasm
GO:0016363	nuclear matrix
GO:0042272	nuclear RNA export factor complex
GO:0042405	nuclear inclusion body
GO:0043231	intracellular membrane-bounded organelle