Ataxin 1

Ataxin 1
250px PDB rendering based on 1oa8.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 1OA8, 2M41, 4APT, 4AQP, 4J2J, 4J2L
Identifiers
Symbols	ATXN1 ; ATX1; D6S504E; SCA1
External IDs	OMIM: 601556 MGI: 104783 HomoloGene: 281 GeneCards: ATXN1 Gene
Gene ontology Molecular function • DNA binding • chromatin binding • protein binding • protein C-terminus binding • poly(U) RNA binding • poly(G) binding • identical protein binding • protein self-association Cellular component • nucleus • nucleoplasm • cytoplasm • nuclear matrix • nuclear RNA export factor complex • nuclear inclusion body • intracellular membrane-bounded organelle Biological process • negative regulation of transcription from RNA polymerase II promoter • transcription, DNA-templated • RNA processing • adult locomotory behavior • visual learning • negative regulation of phosphorylation • negative regulation of insulin-like growth factor receptor signaling pathway • negative regulation of transcription, DNA-templated • positive regulation of transcription from RNA polymerase II promoter • lung alveolus development • nuclear export • excitatory postsynaptic potential • positive regulation of glial cell proliferation Sources: Amigo / QuickGO
RNA expression pattern
File:PBB GE ATXN1 203232 s at tn.png
File:PBB GE ATXN1 203231 s at tn.png
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	6310	20238
Ensembl	ENSG00000124788	ENSMUSG00000046876
UniProt	P54253	P54254
RefSeq (mRNA)	NM_000332	NM_001199304
RefSeq (protein)	NP_000323	NP_001186233
Location (UCSC)	Chr 6: 16.3 – 16.76 Mb	Chr 13: 45.55 – 45.96 Mb
PubMed search	[1]	[2]

Ataxin-1 is a protein that in humans is encoded by the ATXN1 gene.

Mutations in this gene have been linked to neuronal death in suffers of spinocerebellar ataxia type 1, an inherited neurodegenerative disease characterized by a progressive loss of cerebellar neurons. Pathogenic ATXN1 contains an abnormally elongated stretch of the amino acid glutamine. This causes the protein to spontaneously misfold and form aggregates. It has been shown that other neuronal proteins can modulate the formation of Ataxin-1 aggregates and that this in turn may affect aggregate-induced toxicity.

Interactions

Ataxin 1 has been shown to interact with:

• C2orf27,
• Coilin,
• Glyceraldehyde 3-phosphate dehydrogenase,
• UBE2E1, and
• USP7.

External links

• GeneReviews/NIH/NCBI/UW entry on Spinocerebellar Ataxia Type 1
• ataxin-1 at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.