SMART: Pfam domain Atrophin-1

The domain within your query sequence starts at position 300 and ends at position 1290; the E-value for the Atrophin-1 domain shown below is < 1e-12.

GKHSMRTRRSRGSMSTLRSGRKKQPTSPDGRASPINEDIRSSGRNSPSAASTSSNDSKAE
TVKKSAKKVKEEAASPLKSTKRQREKVASDTEDTDRITSKKTKTQEISRPNSPSEGEGES
SDSRSVNDEGSSDPKDIDQDNRSTSPSIPSPQDNESDSDSSAQQQMLQAQPPALQAPSGA
ASAPSTAPPGTPQLPTQGPTPSATAVPPQGSPATSQPPNQTQSTVAPAAHTHIQQAPTLH
PPRLPSPHPPLQPMTAPPSQSSAQPHPQPSLHSQGPPGPHSLQTGPLLQHPGPPQPFGLP
SQPSQGQGPLGPSPAAAHPHSTIQLPASQSALQPQQPPREQPLPPAPLAMPHIKPPPTTP
IPQLPAPQAHKHPPHLSGPSPFSLNANLPPPPALKPLSSLSTHHPPSAHPPPLQLMPQSQ
PLPSSPAQPPGLTQSQSLPPPAASHPTTGLHQVPSQSPFPQHPFVPGGPPPITPPSCPPT
STPPAGPSSSSQPPCSAAVSSGGSVPGAPSCPLPAVQIKEEALDEAEEPESPPPPPRSPS
PEPTVVDTPSHASQSARFYKHLDRGYNSCARTDLYFMPLAGSKLAKKREEAIEKAKREAE
QKAREEREREKEKEKEREREREREREAERAAKASSSAHEGRLSDPQLSGPGHMRPSFEPP
PTTIAAVPPYIGPDTPALRTLSEYARPHVMSPTNRNHPFYMPLNPTDPLLAYHMPGLYNV
DPTIRERELREREIREREIRERELRERMKPGFEVKPPELDPLHPATNPMEHFARHSALTI
PPAAGPHPFASFHPGLNPLERERLALAGPQLRPEMSYPDRLAAERIHAERMASLTSDPLA
RLQMFNVTPHHHQHSHIHSHLHLHQQDPLHQGSAGPVHPLVDPLTAGPHLARFPYPPGTL
PNPLLGQPPHEHEMLRHPVFGTPYPRDLPGAIPPPMSAAHQLQAMHAQSAELQRLAMEQQ
WLHGHPHMHGGHLPSQEDYYSRLKKEGDKQL

Atrophin-1

PFAM accession number:	PF03154
Interpro abstract (IPR002951):	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 [ (PUBMED:11264541) (PUBMED:9647693) ]. 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 [ (PUBMED:9647693) ]. . This entry includes Atrophin-1 and related proteins.

PFAM accession number:

PF03154

Interpro abstract (IPR002951):

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 [ (PUBMED:11264541) (PUBMED:9647693) ]. 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 [ (PUBMED:9647693) ].

This entry includes Atrophin-1 and related proteins.

This is a PFAM domain. For full annotation and more information, please see the PFAM entry Atrophin-1