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IPR017993 is a Atrophin-1.
<p>Atrophin-1 is the protein product of the dentatorubral-pallidoluysian atrophy (DRPLA) gene. DRPLA [OMIM:125370] is a progressive neurodegenerative disorder. It is caused by the expansion of a CAG repeat in the DRPLA gene on chromosome 12p. This results in an extended polyglutamine region in atrophin-1, that is thought to confer toxicity to the protein, possibly through altering its interactions with other proteins [[cite:PUB00019182], [cite:PUB00019181]]. The expansion of a CAG repeat is also the underlying defect in six other neurodegenerative disorders, including Huntington's disease. One interaction of expanded polyglutamine repeats that is thought to be pathogenic is that with the short glutamine repeat in the transcriptional coactivator CREB binding protein, CBP. This interaction draws CBP away from its usual nuclear location to the expanded polyglutamine repeat protein aggregates that are characteristic of the polyglutamine neurodegenerative disorders. This interferes with CBP-mediated transcription and causes cytotoxicity [[cite:PUB00019181]].</p> <p>.</p>
This description is obtained from EB-eye REST.
Transcript | Name | Description | Predicted domains | Domain count |
---|---|---|---|---|
– | Octicosapeptide/phox/Bem1p family protein; TAIR: AT2G01190.1 Octicosapeptide/Phox/Bem1p family protein; Swiss-Prot: sp|Q8ILR9|YPF17_PLAF7 Protein PF14_0175; TrEMBL-Plants: tr|A0A072VQ77|A0A072VQ77_MEDTR Octicosapeptide/phox/Bem1p family protein; Found in the gene: LotjaGi5g1v0335800 | 13 |
A list of co-occurring predicted domains within the L. japonicus gene space:
Predicted domain | Source | Observations | Saturation (%) |
---|---|---|---|
mobidb-lite | MobiDBLite | 1 | 100.00 |