Conserved Protein Domain Family
Atrophin-1

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pfam03154: Atrophin-1 
Atrophin-1 family
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. 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.
Statistics
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PSSM-Id: 397323
Aligned: 5 rows
Threshold Bit Score: 914.057
Threshold Setting Gi: 542244362
Created: 20-May-2020
Updated: 7-Aug-2020
Structure
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Aligned Rows:
PubMed ReferencesClick to see Conserved Features Help

Sequence Alignment
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Format: Row Display: Color Bits: Type Selection:
XP_005162261  525 GKHSMRTRRNRGS-MSTLRSGRKKQTASPDGRASPTNEDLRSSGRTSPS-----AASTSSTDSKTDSMKKPSKKTKEEAP 598  zebrafish
Q62901        567 GKHSMRTRRSRGS-MSTLRSGRKKQPASPDGRASPVNEDVRSSGRNSPS-----AASTSSNDSKAEAVKKSAKKVKEEAA 640  Norway rat
XP_005459105  293 SKHGMRTRRSRAPqLSSLRSGHRRLT-G-----SPTSEDQQSSNQPSPSgsisnSLRSSSTDTKNDSTKKTNKRIKEEVT 366  Nile tilapia
XP_014342207  524 GKHSMRTRRSRGS-MSTLRSGRKKQTASPDGRASPINEDIRSSGRNSPS-----AASTSSNDSKADSIKKSSKKIKEDVP 597  coelacanth
XP_003963165  538 GKHSMRTRRNRGS-MSTLRSGRKKQTASPDGRASPTNEDLRSSGRTSPS-----AASTDSTDSKMESMKKPSKKIKEEAP 611  torafugu
XP_005162261  599 SPMKSAKRQREKGASDTEESERASAKKSKTQEIS-------VPNSPSecegEGEGE-----SSDGRSVNDEGSSDPKDID 666  zebrafish
Q62901        641 SPLKNTKRQREKVASDTEDTDRATSKKTKTQEIS-------RPNSPS----EGEGE-----SSDSRSVNDEGSSDPKDID 704  Norway rat
XP_005459105  367 SQ-KSAKRVRESAAQEPDEPEKVTPKRPKTQD----------PQSSRs---EGEAEveeesSSESRSAQDDGSSDTKDID 432  Nile tilapia
XP_014342207  598 SPLKSAKRQREKATSDTEEPERTATKKSKTQGIS-------RPNTPS----EGEGE-----SSDNRSVNDDGSSDPKDID 661  coelacanth
XP_003963165  612 SPMKSAKRQREKGASDTEEPERANAKKSKTQ--ElsrpdspSECEGEg---EGEGE-----SSDGRSINEELSSDPKDID 681  torafugu
XP_005162261  667 QDNRSSSPSIPSP-RDNESDSDSSAQQQILQG--QhPPVIQCQTGTLPPAPPP-----AAAASTTPT------------- 725  zebrafish
Q62901        705 QDNRSTSPSIPSP-QDNESDSDSSAQQQMLQT--Q-PPALQAPSGAASAPSTApp-gtTQLPTPGPT------------- 766  Norway rat
XP_005459105  433 QDNRSSSPSIPSPqQGNESDSDSSA-----------QP-----NGVPSEPVAP-----TAVLADTPV------------- 478  Nile tilapia
XP_014342207  662 QDNRSTSPSIPSP-QDNESDSDSSAQQQILQT--Q-PPVLQTQNGLPVPPSLPvtsapSQMATAVPP------------- 724  coelacanth
XP_003963165  682 QDNRSSSPSIPSP-RDNESDSDSSAQQQQQQQqqL-LQ----------------------------Sqhppviqcqpgts 731  torafugu
XP_005162261  726 -------------S-GAPSLSSQPSPsipPTSMPP-QQIppAGP--LSLIQSGV----QRLPSPHSPLQGMPq----pPP 780  zebrafish
Q62901        767 -------------P-SATTVPPQGSP---ATSQPPnQTQstVAPaaHTLIQQTPtlhpPRLPSPHPPLQPMT------AP 823  Norway rat
XP_005459105  479 -------------P---QALPSQ------PITPQPlQSIpsADP----------------AQSPPPPs---------pDP 511  Nile tilapia
XP_014342207  725 -------------PsSTPSVPPQVSP---PVTQPPvQPQ--LPP--HTLIQQTPqlhpQRLPSPHPAVQPLTqtqtqpPP 784  coelacanth
XP_003963165  732 assaappppatsaP----SLPPQVSPtaaSTTLPP-QPLpqASP--LSLIQSGAslhpQRLPSPHSPMTQAPp----pCP 800  torafugu
XP_005162261  781 PSQTCPQALQPP-LHGPMPPMGHPLQaGPsHMPHPhaLPTQPFP----MAQSQVPPSP---LSGQaqaaslsqQQRPHTP 852  zebrafish
Q62901        824 PSQNSAQPHPQPsLHGQGPPGPHSLQtGP-LLQHP--GPPQPFGltpqSSQGQGPLGPspaAAHP--------HSTIQLP 892  Norway rat
XP_005459105  512 RQAATGQSAATVgTNSRALPTPHCIS-GPpALPSS--------------LEQDSPIPPafqIP----------STLNCAQ 566  Nile tilapia
XP_014342207  785 PPQVSLQPTPQAvLHTQIQPLPHSLQ-GPsHIQHP--VPPQPFPipsqSSQSQVPPPPqtqAPVHsqp--haaSQMQTQP 859  coelacanth
XP_003963165  801 P--VPPQSLPSP-HHGPMPPMPHPLQsGPpHMPHPhsVAPQGF------GQCQVPPLP---VPGQs-------QQRSHTP 861  torafugu
XP_005162261  853 PSQSQSSSQsgsQPPREQP-------LPPAPLPMPHIKPPPTTPIPQMPNAQSHKHPSH---P-PFpQMPSNLPPPPALK 921  zebrafish
Q62901        893 ASQSALQPQ---QPPREQP-------LPPAPLAMPHIKPPPTTPIPQLPAPQAHKHPPHlsgPsPF-SMNANLPPPPALK 961  Norway rat
XP_005459105  567 PLQPHGPSP---LPPQRPPsffrdgqLHQPPLSGPQVKPPPTTPIPP-----SHKQLPHqsaT-PFpQMPSNLPPPPALK 637  Nile tilapia
XP_014342207  860 PPQPQPQQP---QPPREQP-------LPPAPMSMPHIKPPPTTPIPPLPTPQSHKHPPHlsgPsPF-QMNSNLPPPPALK 928  coelacanth
XP_003963165  862 PSQSSAPSGg--QPPREQP-------LPPAPMSMPHIKPPPTTPISQIANPQSHKHPAHvsaP-PFpQMPSNLPPPPALK 931  torafugu
XP_005162261  922 PLSSLSNHHPPSAHPPPLQLMSQSQQLQPPPVQPPVLTQSQTLPAt---GSQAPPpapplpsssSASHSAPSQPPFPPHS 998  zebrafish
Q62901        962 PLSSLSTHHPPSAHPPPLQLMPQSQPLPSSPAQPPGLTQSQSLPPp---AASHPTt--------GGLHQVPSQSPFPQHP 1030 Norway rat
XP_005459105  638 PLNSLPNQHPPGAPPPPLQLMPQPLPVHSLPAQLPVISQVQTHSGknltSSYSPa---------AASHPLTSVTP----- 703  Nile tilapia
XP_014342207  929 PLSSLPTHHPPSAHPPPLQLMPQSQQIPAPPAQPPVLTQTPNHSA----SANHPP---------SSLHPVASQSPYPQHS 995  coelacanth
XP_003963165  932 PLSSLSTHHPPSAHPPPLQLMPQGQQLQPPPAQPPVLTQSQSLPPs---ASHQPP----------------SAPPLPpsa 992  torafugu
XP_005162261  999 FMPGS-------------SP-VLSPSTVPTSVSSSMT--TLQQP-----PPSISMPLPASVSApcpgpsTVPPVQIKEEP 1057 zebrafish
Q62901       1031 FVPGG-------------PPpITPPSCPPTSTPPAGPssSSQPPcs--aAVSSGGNVPGAPSC------PLPAVQIKEEA 1089 Norway rat
XP_005459105  704 -----------------------SAIGPVPSLQPSFQslPLRPSsgsaaGGS--------------------QVQVKEEP 740  Nile tilapia
XP_014342207  996 FIPSG-------------PPsITPPLGPQASASSSMP--GIQPPssvvtSVASSGTVPNVTTT------SVPPIQIKEEA 1054 coelacanth
XP_003963165  993 aaashpngppqppfathpfstvlpasGPPPSSSNAMS--GIQPPssaatSSSISMPLPATVSCagp-gpVLPPIHIKEEP 1069 torafugu
XP_005162261 1058 LDETEEPESPPPPQRSPSPPPTIVNTPSHASQSARFYKHLDRGYNTCARTDFYFTPLASSKLAKKREEALEKAKREAEQK 1137 zebrafish
Q62901       1090 LDEAEEPESPPPPPRSPSPEPTVVDTPSHASQSARFYKHLDRGYNSCARTDLYFMPLAGSKLAKKREEAIEKAKREAEQK 1169 Norway rat
XP_005459105  741 LDEMEEAESPPSPPRSPSPEPTIINMASHASQSARFIKHLDRGYNSCARTDLFFTPLPSSKLAKKREEAVEKARREAELS 820  Nile tilapia
XP_014342207 1055 PDEPEEPESPPPPPRSPSPEPTVVNTPNHASQSARFYKHLDRGYNSCSRTDLYFMPLAGSKLAKKREEALEKAKREAEQK 1134 coelacanth
XP_003963165 1070 LDESEEPESPPPPQRSPSPEPTIVNTPSHASQSARFYKHLDRGYNSCARTDFYFTPLASSKLAKKREEALEKAKREAEQK 1149 torafugu
XP_005162261 1138 AREEKEKEREREKEREREREREKEAERA----------------A-KASSSSHESRMGEPPMAGSAHMRTSFDPPPTTIA 1200 zebrafish
Q62901       1170 AREEREREKEKEKEREREREREREAERA----------------AqKASSSAHEGRLSDPQLSGPGHMRPSFEPPPTTIA 1233 Norway rat
XP_005459105  821 ARQEREREK------DREREREREADRS----------------A-RASSSSHDSRMSEAHMVAQGHGRPSFEQPPTTVA 877  Nile tilapia
XP_014342207 1135 AKEEKEREKEKEKEREREREREREAERA----------------A-KASSSSHEGRMGDPQLGGPAHIRASFEPPPTTIA 1197 coelacanth
XP_003963165 1150 AREEKERER----------------EREkererererekeaeraA-KASSSSHEPRMGEPQMAGPAHMRPPFDGPPTTIA 1212 torafugu
XP_005162261 1201 TVPPYIGPDTPALRTLSEYARPHVMSPTNRNHPFFVSLNPTDPLLAYHLPGLYNADPSMRERELREREIREREIRERELR 1280 zebrafish
Q62901       1234 AVPPYIGPDTPALRTLSEYARPHVMSPTNRNHPFYMPLNPTDPLLAYHMPGLYNVDPTIRERELREREIREREIRERELR 1313 Norway rat
XP_005459105  878 AVPPYIGPDTPALRTLSEYARPHVMSPTNRNHPFYVSLTPGDPLLAYHMPGLYSAEPSLREREL--RNLRERELR----- 950  Nile tilapia
XP_014342207 1198 AVPPYIGPDTPALRTLSEYARPHVMSPTNRNHPFFVPLNHADPLLPYHMASIYSVDPAIRERELRERELREREIRERELR 1277 coelacanth
XP_003963165 1213 AVPPYIGPDTPALRTLSEYARPHVMSPTNRNHPFFVSLNPADPLLAYHMPGLYNADPAMRERELREREMREREIRERELR 1292 torafugu
XP_005162261 1281 mERMKPGFEVKPPELDSLHPSANPMEHFARHGPIGLPPMAG-PHPFASFHPGLNPLERERLALAGPQLRPEMTYPERL-A 1358 zebrafish
Q62901       1314 -ERMKPGFEVKPPELDPLHPATNPMEHFARHSALTIPPAAG-PHPFASFHPGLNPLERERLALAGPQLRPEMSYPDRLaA 1391 Norway rat
XP_005459105  951 -ERMKPGFEVKPPDLETLHPAANPMEHFARHGPLGLPHIPGpPHPFAPFHPGLNHLERERMVLAAPQLRPELTYAERLtA 1029 Nile tilapia
XP_014342207 1278 -ERMKPGFEVKPPELDPLHPAANPMEHFARHGALALPPGAG-PHPFAAFHPGLNPLERERLALAGPQLRPEMSYPDRLaA 1355 coelacanth
XP_003963165 1293 -ERMKPGFEVKPPEMDTLHPSTNPMEHFARHGAITLPHMAG-PHHFASLHPGLNPLERERLALAGPQLRPEMTYPERLaA 1370 torafugu
XP_005162261 1359 ERLHVERL---ANDPMARLQMFNVTPHHHQHSHIHSHLHLHQQDPLHQ--GSGAHPL-VDPLaGGPHLARFPYPPGAIPN 1432 zebrafish
Q62901       1392 ERIHAERMaslTSDPLARLQMFNVTPHHHQHSHIHSHLHLHQQDPLHQgsAGPVHPL-VDPLtAGPHLARFPYPPGTLPN 1470 Norway rat
XP_005459105 1030 ERLHAERMasvATDPAARLQMLNVTPHHHQHSHIHSHLHLHQQDPLGQ--GSSPHPL-VDPLaTGPRLARFPFPAGPIPN 1106 Nile tilapia
XP_014342207 1356 ERLHAERMaslTNDPLARLQMFNVTPHHHQHSHIHSHLHLHQQDPLHQgsTGPVHPL-VDPL-AGPHLARFPYPPSAIPN 1433 coelacanth
XP_003963165 1371 ERLHAERMatvANDPIARLQMFNVTPHHHQHSHIHSHLHLHQQDPLHQ--GSGAHPLaVDPLaAGPHLARFPYPHGAIPN 1448 torafugu
XP_005162261 1433 PLLGQPPHEHEMLRHPVFGTPYPRDLPAGLPPPMSAAHQLQAM-HAQSAELQRLAMEQQWLHGHHHMHGGPLPGQEDYYS 1511 zebrafish
Q62901       1471 PLLGQPPHEHEMLRHPVFGTPYPRDLPGAIPPPMSAAHQLQAM-HAQSAELQRLAMEQQWLHGHPHMHGGHLPSQEDYYS 1549 Norway rat
XP_005459105 1107 PLLSDLPHDHEMLRHPLFGAAYPRELQGPI-PPMSAAHQLQAM-HAQSAELQRMAMEQQWLHGH-HLHGGPLPGQEDYYS 1183 Nile tilapia
XP_014342207 1434 PLLGQPPHEHEMLRHPVFGTPYPRDLPGPLPPPMSAAHQLQAMhHAQSAELQRLAMEQQWLHGHPHMHGAHLPGQEDYYS 1513 coelacanth
XP_003963165 1449 PLLGQPPHEHEMLRHPVFGTPYPRELPGGLPPPMSAAHQLQAM-HAQSAELQRLAMEQQWLHGHHPMHGGPLPGQEDYYS 1527 torafugu
XP_005162261 1512 RLKKESDKQ 1520 zebrafish
Q62901       1550 RLKKEGDKQ 1558 Norway rat
XP_005459105 1184 RLKKEGDKP 1192 Nile tilapia
XP_014342207 1514 RLKKENDKQ 1522 coelacanth
XP_003963165 1528 RLKKESDKQ 1536 torafugu
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