" /> ATXN1 wt Allele - CISMeF





Preferred Label : ATXN1 wt Allele;

NCIt synonyms : ATX1; D6S504E; Ataxin 1 wt Allele; SCA1; Spinocerebellar Ataxia 1 (Olivopontocerebellar Ataxia 1, Autosomal Dominant, Ataxin 1) Gene;

NCIt definition : Human ATXN1 wild-type allele is located in the vicinity of 6p22.3 and is approximately 462 kb in length. This allele, which encodes ataxin-1 protein, plays a role in Notch signaling, chromatin binding and RNA metabolism. CGA repeat expansion within the coding region of the gene is associated with spinocerebellar ataxia 1.;

NCIt note : The ATXN1 gene contains an alternative reading frame (Alt-ATXN1), which begins 30 nucleotides downstream of the initiation codon for full-length ATXN1 and ends at nucleotide 587, just prior to the CAG repeat region. The deduced 185 aa protein is 21 kDa and has no sequence similarity to ataxin-1. A shorter transcript beginning at a methionine codon at nucleotide 132 may produce an N-terminally truncated form of the Alt-ATXN1 protein that may contain 151 aa and is predicted to be 17 kDa. Ataxin-1 and Alt-ATXN1 protein colocalize in the nucleus and have been shown to interact in vitro. (J. Biol. Chem. 2013; 288: 21824-21835.);

NCI Metathesaurus CUI : CL512850;

GenBank Accession Number : X79204;

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11/05/2024


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