Ataxin 1 (ATXN1)

ATX1; SCA1; AXH Domain; Spinocerebellar Ataxia 1; Olivopontocerebellar Ataxia 1; Autosomal Dominant,Ataxin 1

SPN	W295
HGNC	10548
MGI	104783
PubMed	11081516
RGD	3624
UniProt	P54253
Wiki	Ataxin_1

The protein ataxin-1 is encoded by the ATXN1 gene, which is mutated to contain an expanded CAG trinucleotide repeat in spinocerebellar ataxia-1 (SCA1), an autosomal dominant form of olivopontocerebellar atrophy. Although there are forms of spinocerebellar ataxia that are indistinguishable clinically from SCA1, e.g., SCA2, the designation SCA1 is used for the form that maps to 6p.

Banfi et al. (1994) demonstrated that the ATXN1 gene encodes an 816-amino acid protein with a molecular mass of 87 kD. The (CAG)n repeat, coding for a polyglutamine tract, lies within the coding region, and the protein is transcribed from both the wildtype and the CAG-expanded ATXN1 allele.

Reference

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Nature 389:974-978(1997) [PubMed] [Europe PMC] [Abstract]

"The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract."
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"Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein."
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Neuron 34:701-713(2002) [PubMed] [Europe PMC] [Abstract]

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Mol. Cell. Neurosci. 20:298-306(2002) [PubMed] [Europe PMC] [Abstract]

"Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice."
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"SUMOylation of the polyglutamine repeat protein, ataxin-1, is dependent on a functional nuclear localization signal."
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"Ataxin-1 and Brother of ataxin-1 are components of the Notch signalling pathway."
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"Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels."
Cell 160:1087-1098(2015) [PubMed] [Europe PMC] [Abstract]

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