Conserved Protein Domain Family
Atrophin-1
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pfam03154: Atrophin-1 (This model is not part of the current CDD release)
Atrophin-1 family
Atrophin-1 is the protein product of the dentatorubral-pallidoluysian atrophy (DRPLA) gene. DRPLA 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. 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.
Links
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Statistics
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PSSM-Id: 515417
Aligned: 3 rows
Threshold Bit Score: 1129.12
Created: 13-Feb-2025
Updated: 28-Apr-2025
Structure
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Aligned Rows:
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PubMed ReferencesClick to see Conserved Features Help
Sequence Alignment
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Format: Row Display: Color Bits: Type Selection: 
Q62901        567 GKHSMRTRRSRGSMSTLRSGRKKQPASPDGRASPVNEDVRSSGRNSPSAASTSSNDSKAEAVKKSAKKVKEEAASPLKNT 646  Norway rat
XP_064423858  524 GKHSMRTRRSRGSMSTLRSGRKKQTASPDGRASPINEDIRSSGRNSPSAASTSSNDSKADSIKKSSKKIKEDVPSPLKSA 603  coelacanth
XP_011620268  538 GKHSMRTRRNRGSMSTLRSGRKKQTASPDGRASPTNEDLRSSGRTSPSAASTDSTDSKMESMKKPSKKIKEEAPSPMKSA 617  torafugu

Q62901        647 KRQREKVASDTEDTDRATSKKTKTQEISRPNSPS------EGEGESSDSRSVNDEGSSDPKDIDQDNRSTSPSIPSPQDN 720  Norway rat
XP_064423858  604 KRQREKATSDTEEPERTATKKSKTQGISRPNTPS------EGEGESSDNRSVNDDGSSDPKDIDQDNRSTSPSIPSPQDN 677  coelacanth
XP_011620268  618 KRQREKGASDTEEPERANAKKSKTQELSRPDSPSecegegEGEGESSDGRSINEELSSDPKDIDQDNRSSSPSIPSPRDN 697  torafugu

Q62901        721 ESDSDSSAQQQMLQTQPPALQAPSGAASAPSTAPP-GTTQLPTPGPTP-SATTVPPQGSPATS----------------- 781  Norway rat
XP_064423858  678 ESDSDSSAQQQILQTQPPVLQTQNGLPVPPSLPVTsAPSQMATAVPPPsSTPSVPPQVSPPVT----------------- 740  coelacanth
XP_011620268  698 ESDSDSSAQQQQQQQQQL-LQSQHPPVIQCQPG-----TSASSAAPPP-----------PATSapslppqvsptaasttl 760  torafugu

Q62901        782 ---QPPNQTQstVAPaaHTLIQQTPTLHPPRLPSPHPPLQPMT------APPSQNSAQPHPQPSLHGQGPPGPHSLQtGP 852  Norway rat
XP_064423858  741 ---QPPVQPQ--LPP--HTLIQQTPQLHPQRLPSPHPAVQPLTqtqtqpPPPPQVSLQPTPQAVLHTQIQPLPHSLQ-GP 812  coelacanth
XP_011620268  761 ppqPLPq-----ASP--LSLIQSGASLHPQRLPSPHSPMTQAPp----pCPP--VPPQSLPSP-HHGPMPPMPHPLQsGP 826  torafugu

Q62901        853 -LLQHP--GPPQPFGLTPQSSQGQGPLGPSPAAAHP------HSTIQLPASQSALQPQ-QPPREQPLPPAPLAMPHIKPP 922  Norway rat
XP_064423858  813 sHIQHP--VPPQPFPIPSQSSQSQVPPPPQTQAPVHsqphaaSQMQTQPPPQPQPQQP-QPPREQPLPPAPMSMPHIKPP 889  coelacanth
XP_011620268  827 pHMPHPhsVAPQGF------GQCQVPPLP---VPGQs-----QQRSHTPPSQSSAPSGgQPPREQPLPPAPMSMPHIKPP 892  torafugu

Q62901        923 PTTPIPQLPAPQAHKHPPHLSGPSPF-SMNANLPPPPALKPLSSLSTHHPPSAHPPPLQLMPQSQPLPSSPAQPPGLTQS 1001 Norway rat
XP_064423858  890 PTTPIPPLPTPQSHKHPPHLSGPSPF-QMNSNLPPPPALKPLSSLPTHHPPSAHPPPLQLMPQSQQIPAPPAQPPVLTQT 968  coelacanth
XP_011620268  893 PTTPISQIANPQSHKHPAHVSAP-PFpQMPSNLPPPPALKPLSSLSTHHPPSAHPPPLQLMPQGQQLQPPPAQPPVLTQS 971  torafugu

Q62901       1002 QSLPPpAA----------------SHPTtGGLHQVPSQSPFPQHPFVPGGPPPITPPSCPPTSTPPAGPssSSQPPCSA- 1064 Norway rat
XP_064423858  969 PNHSA-SA----------------NHPP-SSLHPVASQSPYPQHSFIPSGPPSITPPLGPQASASSSMP--GIQPPSSVv 1028 coelacanth
XP_011620268  972 QSLPPsAShqppsapplppsaaaaSHPN------GPPQPPFATHPF----ST-VLPASGPPPSSSNAMS--GIQPPSSAa 1038 torafugu

Q62901       1065 -AVSSGGNVPGAPSC-----PLPAVQIKEEALDEAEEPESPPPPPRSPSPEPTVVDTPSHASQSARFYKHLDRGYNSCAR 1138 Norway rat
XP_064423858 1029 tSVASSGTVPNVTTT-----SVPPIQIKEEAPDEPEEPESPPPPPRSPSPEPTVVNTPNHASQSARFYKHLDRGYNSCSR 1103 coelacanth
XP_011620268 1039 tSSSISMPLPATVSCagpgpVLPPIHIKEEPLDESEEPESPPPPQRSPSPEPTIVNTPSHASQSARFYKHLDRGYNSCAR 1118 torafugu

Q62901       1139 TDLYFMPLAGSKLAKKREEAIEKAKREAEQKAREEREREKEKEKEREREREREREAERAAqKASSSAHEGRLSDPQLSGP 1218 Norway rat
XP_064423858 1104 TDLYFMPLAGSKLAKKREEALEKAKREAEQKAKEEKEREKEKEKEREREREREREAERAAqKASSSSHEGRMGDPQLGGP 1183 coelacanth
XP_011620268 1119 TDFYFTPLASSKLAKKREEALEKAKREAEQKAREEKEREREREKEREREREREKEAERAA-KASSSSHEPRMGEPQMAGP 1197 torafugu

Q62901       1219 GHMRPSFEPPPTTIAAVPPYIGPDTPALRTLSEYARPHVMSPTNRNHPFYMPLNPTDPLLAYHMPGLYNVDPTIRERELR 1298 Norway rat
XP_064423858 1184 AHIRASFEPPPTTIAAVPPYIGPDTPALRTLSEYARPHVMSPTNRNHPFFVPLNHADPLLPYHMASIYSVDPAIRERELR 1263 coelacanth
XP_011620268 1198 AHMRPPFDGPPTTIAAVPPYIGPDTPALRTLSEYARPHVMSPTNRNHPFFVSLNPADPLLAYHMPGLYNADPAMRERELR 1277 torafugu

Q62901       1299 EREIREREIRERELRERMKPGFEVKPPELDPLHPATNPMEHFARHSALTIPPAAGPHPFASFHPGLNPLERERLALAGPQ 1378 Norway rat
XP_064423858 1264 ERELREREIRERELRERMKPGFEVKPPELDPLHPAANPMEHFARHGALALPPGAGPHPFAAFHPGLNPLERERLALAGPQ 1343 coelacanth
XP_011620268 1278 EREMREREIRERELRERMKPGFEVKPPEMDTLHPSTNPMEHFARHGAITLPHMAGPHHFASLHPGLNPLERERLALAGPQ 1357 torafugu

Q62901       1379 LRPEMSYPDRLAAERIHAERMASLTSDPLARLQMFNVTPHHHQHSHIHSHLHLHQQDPLHQ--------GSAGPVHPL-V 1449 Norway rat
XP_064423858 1344 LRPEMSYPDRLAAERLHAERMASLTNDPLARLQMFNVTPHHHQHSHIHSHLHLHQQDPLHQ--------GSTGPVHPL-V 1414 coelacanth
XP_011620268 1358 LRPEMTYPERLAAERLHAERMATVANDPIARLQMFNVTPHHHQHSHIHSHLHLHQQDPLHQgggeclvcPPGSGAHPLaV 1437 torafugu

Q62901       1450 DPLtAGPHLARFPYPPGTLPNPLLGQPPHEHEMLRHPVFGTPYPRDLPGAIPPPMSAAHQLQAM-HAQSAELQRLAMEQQ 1528 Norway rat
XP_064423858 1415 DPL-AGPHLARFPYPPSAIPNPLLGQPPHEHEMLRHPVFGTPYPRDLPGPLPPPMSAAHQLQAMhHAQSAELQRLAMEQQ 1493 coelacanth
XP_011620268 1438 DPLaAGPHLARFPYPHGAIPNPLLGQPPHEHEMLRHPVFGTPYPRELPGGLPPPMSAAHQLQAM-HAQSAELQRLAMEQQ 1516 torafugu

Q62901       1529 WLHGHPHMHGGHLPSQEDYYSRLKKEGDKQ 1558 Norway rat
XP_064423858 1494 WLHGHPHMHGAHLPGQEDYYSRLKKENDKQ 1523 coelacanth
XP_011620268 1517 WLHGHHPMHGGPLPGQEDYYSRLKKESDKQ 1546 torafugu
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