Sequence Detail

ID/Version

P54254 Q8C866 (UniProt | EBI)

Last sequence update: 2010-03-23
Last annotation update: 2024-07-24

Sequence description from provider

RecName: Full=Ataxin-1;AltName: Full=Spinocerebellar ataxia type 1 protein homolog;

Provider

SWISS-PROT

Sequence

Polypeptide 791 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Atxn1	ataxin 1	59	109	4	14

Sequence references in MGI

J:30900 Banfi S, et al., Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1). Hum Mol Genet. 1996 Jan;5(1):33-40
J:44105 Matilla A, et al., The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1. Nature. 1997 Oct 30;389(6654):974-8
J:59181 Cummings CJ, et al., Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice. Neuron. 1999 Dec;24(4):879-92
J:77225 Watase K, et al., A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration. Neuron. 2002 Jun 13;34(6):905-19
J:81242 Klement IA, et al., Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell. 1998 Oct 2;95(1):41-53
J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:119643 Bowman AB, et al., Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes. Nat Genet. 2007 Mar;39(3):373-379
J:221497 Gennarino VA, et al., Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels. Cell. 2015 Mar 12;160(6):1087-98
J:240674 Lu HC, et al., Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Nat Genet. 2017 Apr;49(4):527-536
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89