Conserved Protein Domain Family
Atrophin-1

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pfam03154: Atrophin-1 (this model, PSSM-Id:367360 is obsolete and has been replaced by 397323)
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: 367360
View PSSM: pfam03154
Aligned: 6 rows
Threshold Bit Score: 853.16
Threshold Setting Gi: 1249004369
Created: 6-May-2019
Updated: 18-Jul-2019
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:
Q62901        567 GKHSMRTRRSRGS-MSTLRSGRKKQPASPDGRASPVNEDVRSSGRNSPS-----AASTSSNDSKAEAVKKSAKKVKEEAA 640  Norway rat
XP_003963165  538 GKHSMRTRRNRGS-MSTLRSGRKKQTASPDGRASPTNEDLRSSGRTSPS-----AASTDSTDSKMESMKKPSKKIKEEAP 611  torafugu
XP_005162261  525 GKHSMRTRRNRGS-MSTLRSGRKKQTASPDGRASPTNEDLRSSGRTSPS-----AASTSSTDSKTDSMKKPSKKTKEEAP 598  zebrafish
XP_005459105  293 SKHGMRTRRSRAPqLSSLRSGHRRLT-G-----SPTSEDQQSSNQPSPSgsisnSLRSSSTDTKNDSTKKTNKRIKEEVT 366  Nile tilapia
XP_022531459  296 GRHGMKTRRSRAP-MSSLRSGRNRLTGSPDRGLSPSHDDVRAGGHTPRTnssamATRASSADTKAGVAGKANKKIKVE-T 373  Mexican tetra
XP_014342207  524 GKHSMRTRRSRGS-MSTLRSGRKKQTASPDGRASPINEDIRSSGRNSPS-----AASTSSNDSKADSIKKSSKKIKEDVP 597  coelacanth
Q62901        641 SPLKNTKRQREKVASDTEDTDRATSKKTKTQEISRPNSPS------EGEGE-----SSDSRSVNDEGSSDPKDIDQDNRS 709  Norway rat
XP_003963165  612 SPMKSAKRQREKGASDTEEPERANAKKSKTQELSRPDSPSecegegEGEGE-----SSDGRSINEELSSDPKDIDQDNRS 686  torafugu
XP_005162261  599 SPMKSAKRQREKGASDTEESERASAKKSKTQEISVPNSPSec--egEGEGE-----SSDGRSVNDEGSSDPKDIDQDNRS 671  zebrafish
XP_005459105  367 SQ-KSAKRVRESAAQEPDEPEKVTPKRPKTQD---PQSSRs-----EGEAEveeesSSESRSAQDDGSSDTKDIDQDNRS 437  Nile tilapia
XP_022531459  374 SVVKAVKRQRETGAPDTDEPERKTMKTPKDQ--VGPDSQSe----gEGEGE-----SSDSRSANDDGSSDTKDIDQDNRS 442  Mexican tetra
XP_014342207  598 SPLKSAKRQREKATSDTEEPERTATKKSKTQGISRPNTPS------EGEGE-----SSDNRSVNDDGSSDPKDIDQDNRS 666  coelacanth
Q62901        710 TSPSIPSP-QDNESDSDSSA----QQQMLQTQ-PPALQAPSGaasaps-tappgtTQLPTPGPTP---SATTVPPQGSP- 778  Norway rat
XP_003963165  687 SSPSIPSP-RDNESDSDSSAqqqqQQQLLQSQhPPVIQCQPG-------------TSASSAAPPPpatSAPSLPPQVSPt 752  torafugu
XP_005162261  672 SSPSIPSP-RDNESDSDSSA----QQQILQGQhPPVIQCQTGtlpp-----apppAAAASTTPTS---GAPSLSSQPSPs 738  zebrafish
XP_005459105  438 SSPSIPSPqQGNESDSDSSA-------------QP-----NGvpse-----pvapTAVLADTPVP-----QALPSQ---- 485  Nile tilapia
XP_022531459  443 SSPSLASPmQANESDSDSPA-------------PPppp--------------gpqTQVQQPAPTP----ATPAPSQTPP- 490  Mexican tetra
XP_014342207  667 TSPSIPSP-QDNESDSDSSA----QQQILQTQ-PPVLQTQNGlpvppslpvtsapSQMATAVPPPs--STPSVPPQVSP- 737  coelacanth
Q62901        779 --ATSQPPnQTQstVAPaaHTLIQQTPTLHPPRLPSPHPPLQPMT------APPsqNSAQPHPQPsLHGQGPPGPHSLQt 850  Norway rat
XP_003963165  753 aaSTTLPP-QPLpqASP--LSLIQSGASLHPQRLPSPHSPMTQAPp----pCPP--VPPQSLPSP-HHGPMPPMPHPLQs 822  torafugu
XP_005162261  739 ipPTSMPP-QQIppAGP--LSLIQSGV----QRLPSPHSPLQGMPq----pPPPsqTCPQALQPP-LHGPMPPMGHPLQa 806  zebrafish
XP_005459105  486 --PITPQPlQSIpsADP----------------AQSPPPPs---------pDPRqaATGQSAATVgTNSRALPTPHCIS- 537  Nile tilapia
XP_022531459  491 --PMPSQP-SPLsvPSPevSTITTATSTTTTSRVVVPVDIn---------lDEPsiIAPRRAQRG-PEGPPTSQPHS--- 554  Mexican tetra
XP_014342207  738 --PVTQPPvQPQ--LPP--HTLIQQTPQLHPQRLPSPHPAVQPLTqtqtqpPPPpqVSLQPTPQAvLHTQIQPLPHSLQ- 810  coelacanth
Q62901        851 GP-LLQHP--GPPQPFgltpqsSQGQGPLGPspaAAHP--------HSTIQLPAsqSALQPQ---QPPREQP-------L 909  Norway rat
XP_003963165  823 GPpHMPHPhsVAPQGF------GQCQVPPLP---VPGQs-------QQRSHTPP--SQSSAPsggQPPREQP-------L 877  torafugu
XP_005162261  807 GPsHMPHPhaLPTQPFp----mAQSQVPPSP---LSGQaqaaslsqQQRPHTPPsqSQSSSQsgsQPPREQP-------L 872  zebrafish
XP_005459105  538 GPpALPSS--------------LEQDSPIPPafqIP----------STLNCAQPlqPHGPSP---LPPQRPPsffrdgqL 590  Nile tilapia
XP_022531459  555 GPsSFPGPaqGPGQ--------GQGQSFPPPslyPPHP--------NQLQSHPP----GPHPthsFPPKPVH-------I 607  Mexican tetra
XP_014342207  811 GPsHIQHP--VPPQPFpipsqsSQSQVPPPPqtqAPVHsqp--haaSQMQTQPPpqPQPQQP---QPPREQP-------L 876  coelacanth
Q62901        910 PPAPLAMPHIKPPPTTPIPQLPAPQAHKHP--PHLSGPsPF-SMNANLPPPPALKPLSSLSTHHPPSAHPPPLQLMPQSQ 986  Norway rat
XP_003963165  878 PPAPMSMPHIKPPPTTPISQIPNPQSHKHP--AHVSAP-PFpQMPSNLPPPPALKPLSSLSTHHPPSAHPPPLQLMPQGQ 954  torafugu
XP_005162261  873 PPAPLPMPHIKPPPTTPIPQMPNAQSHKHP--SH---P-PFpQMPSNLPPPPALKPLSSLSNHHPPSAHPPPLQLMSQSQ 946  zebrafish
XP_005459105  591 HQPPLSGPQVKPPPTTPIPP-----SHKQL--PHQSAT-PFpQMPSNLPPPPALKPLNSLPNQHPPGAPPPPLQLMPQPL 662  Nile tilapia
XP_022531459  608 PQPPASASQIKPPPTTPIPS-----SHKHPphPHLPASpPFlQIHPNLPPPPALKPLASLPSQHPPCSQPPPLHIMPQPH 682  Mexican tetra
XP_014342207  877 PPAPMSMPHIKPPPTTPIPPLPTPQSHKHP--PHLSGPsPF-QMNSNLPPPPALKPLSSLPTHHPPSAHPPPLQLMPQSQ 953  coelacanth
Q62901        987 PLPSSPAQPPGLTQSQSLPPp---AASHPTt---------GGLH-QVP--------SQSPFPQHPFVPggpppITPPS-C 1044 Norway rat
XP_003963165  955 QLQPPPAQPPVLTQSQSLPPs---ASHQPPsapplppsaaAASHpNGP--------PQPPFATHPFST-----VLPAS-G 1017 torafugu
XP_005162261  947 QLQPPPVQPPVLTQSQTLPAt---GSQAPPpappl-psssSASH-SAP--------SQPPFPPHSFMPgs-spVLSPS-T 1011 zebrafish
XP_005459105  663 PVHSLPAQLPVISQVQTHSGknltSSYSPa----------AASH-PLT--------SVTP---------------SAI-G 707  Nile tilapia
XP_022531459  683 -----PSQPPVLTQSQSHQVkghhAGPPPTt---------TCPHpSLSlnprpmpeSTAPFP--SASSsasapVPGPVpG 746  Mexican tetra
XP_014342207  954 QIPAPPAQPPVLTQTPNHSA----SANHPP----------SSLH-PVA--------SQSPYPQHSFIPsgppsITPPL-G 1009 coelacanth
Q62901       1045 PPTSTPPAGPssSSQPPCSA--AVSSGGNVPGAPSC------PLPAVQIKEEALDEAEEPESPPPPPRSPSPEPTVVDTP 1116 Norway rat
XP_003963165 1018 PPPSSSNAMS--GIQPPSSAatSSSISMPLPATVSCagp-gpVLPPIHIKEEPLDESEEPESLHPPQRSPSPEPTIVNTP 1094 torafugu
XP_005162261 1012 VPTSVSSSMT--TLQQP-----PPSISMPLPASVSApcpgpsTVPPVQIKEEPLDETEEPESPPPPQRSPSPPPTIVNTP 1084 zebrafish
XP_005459105  708 PVPSLQPSFQslPLRPSSGSaaGGS--------------------QVQVKEEPLDEMEEAESPPSPPRSPSPEPTIINMA 767  Nile tilapia
XP_022531459  747 PVPGPVP-----GPQPSTSStlSVTT----------------VPPQLTIKEEPVDEEEECDSPPPPRRSPSPEPTVVNIA 805  Mexican tetra
XP_014342207 1010 PQASASSSMP--GIQPPSSVvtSVASSGTVPNVTTT------SVPPIQIKEEAPDEPEEPESPPPPPRSPSPEPTVVNTP 1081 coelacanth
Q62901       1117 SHASQSARFYKHLDRGYNSCARTDLYFMPLAGSKLAKKREEAIEKAKREAEQKAREEREREKEKEKEREREREREREAER 1196 Norway rat
XP_003963165 1095 SHASQSARFYKHLDRGYNSCARTDFYFTPLASSKLAKKREEALEKAKREAEQKAREEKEREREREKEREREREREKEAER 1174 torafugu
XP_005162261 1085 SHASQSARFYKHLDRGYNTCARTDFYFTPLASSKLAKKREEALEKAKREAEQKAREEKEKEREREKEREREREREKEAER 1164 zebrafish
XP_005459105  768 SHASQSARFIKHLDRGYNSCARTDLFFTPLPSSKLAKKREEAVEKARREAELSARQEREREK------DREREREREADR 841  Nile tilapia
XP_022531459  806 SHASQSARFIKHLNRGYNSCSRTDLYFTPLASSKLAKKREEAAEKLRREAEQSARQGRERERERERERERERERERDSDR 885  Mexican tetra
XP_014342207 1082 NHASQSARFYKHLDRGYNSCSRTDLYFMPLAGSKLAKKREEALEKAKREAEQKAKEEKEREKEKEKEREREREREREAER 1161 coelacanth
Q62901       1197 AAqKASSSAHEGRLSDPQLSGPGH-MRPSFE-PPPTTIAAVPPYIGPDTPALRTLSEYARPHVMSPTNRNHPFYMPLNPT 1274 Norway rat
XP_003963165 1175 AA-KASSSSHEPRMGEPQMAGPAH-MRPPFD-GPPTTIAAVPPYIGPDTPALRTLSEYARPHVMSPTNRNHPFFVSLNPA 1251 torafugu
XP_005162261 1165 AA-KASSSSHESRMGEPPMAGSAH-MRTSFD-PPPTTIATVPPYIGPDTPALRTLSEYARPHVMSPTNRNHPFFVSLNPT 1241 zebrafish
XP_005459105  842 SA-RASSSSHDSRMSEAHMVAQGH-GRPSFE-QPPTTVAAVPPYIGPDTPALRTLSEYARPHVMSPTNRNHPFYVSLTPG 918  Nile tilapia
XP_022531459  886 AS-RASSSSHDGRLSDHPLTAHAQpGRASFEpPPPTTVAAVPPYLGPDTPALRTLSEYARPHVMSPSNRNHPFFMPLGPG 964  Mexican tetra
XP_014342207 1162 AA-KASSSSHEGRMGDPQLGGPAH-IRASFE-PPPTTIAAVPPYIGPDTPALRTLSEYARPHVMSPTNRNHPFFVPLNHA 1238 coelacanth
Q62901       1275 DPLLAYHMPGLYNVDPTIRERELREREIREREIRERELR-ERMKPGFEVKPPELDP-LHPATNPMEHFARHSALTIPPAA 1352 Norway rat
XP_003963165 1252 DPLLAYHMPGLYNADPAMRERELREREMREREIRERELR-ERMKPGFEVKPPEMDT-LHPSTNPMEHFARHGAITLPHMA 1329 torafugu
XP_005162261 1242 DPLLAYHLPGLYNADPSMRERELREREIREREIRERELRmERMKPGFEVKPPELDS-LHPSANPMEHFARHGPIGLPPMA 1320 zebrafish
XP_005459105  919 DPLLAYHMPGLYSAEPSLREREL--RNLRERELR------ERMKPGFEVKPPDLET-LHPAANPMEHFARHGPLGLPHIP 989  Nile tilapia
XP_022531459  965 DHLLAYHMQSLYAADPALREREL--RELREREIR------ERMKPGFEVKPPELETaLHPSANPMEHFARHGALAFPHVA 1036 Mexican tetra
XP_014342207 1239 DPLLPYHMASIYSVDPAIRERELRERELREREIRERELR-ERMKPGFEVKPPELDP-LHPAANPMEHFARHGALALPPGA 1316 coelacanth
Q62901       1353 G-PHPFASFHPGLNPLERERLALAGPQLRPEMSYPDRLAAERIHAERMAS--LTSDPLARLQMFNVTPHHHQHSHIHSHL 1429 Norway rat
XP_003963165 1330 G-PHHFASLHPGLNPLERERLALAGPQLRPEMTYPERLAAERLHAERMAT--VANDPIARLQMFNVTPHHHQHSHIHSHL 1406 torafugu
XP_005162261 1321 G-PHPFASFHPGLNPLERERLALAGPQLRPEMTYPERL-AERLHVERL-----ANDPMARLQMFNVTPHHHQHSHIHSHL 1393 zebrafish
XP_005459105  990 GpPHPFAPFHPGLNHLERERMVLAAPQLRPELTYAERLTAERLHAERMAS--VATDPAARLQMLNVTPHHHQHSHIHSHL 1067 Nile tilapia
XP_022531459 1037 G-PHPFAPFHPAM-----ERSMAAPP--RPEITYAERLTAERLHAERMAAtvVAGDPVARLQMLNVTPHHHQHSHIHSHL 1108 Mexican tetra
XP_014342207 1317 G-PHPFAAFHPGLNPLERERLALAGPQLRPEMSYPDRLAAERLHAERMAS--LTNDPLARLQMFNVTPHHHQHSHIHSHL 1393 coelacanth
Q62901       1430 HLHQQDPLHQgsAGPVHPL-VDPLtAGPHLARFPYPPGTLPNPLLGQPPHEHEMLRHPVF-GTPYPRDLPGAIPPPMSAA 1507 Norway rat
XP_003963165 1407 HLHQQDPLHQ--GSGAHPLaVDPLaAGPHLARFPYPHGAIPNPLLGQPPHEHEMLRHPVF-GTPYPRELPGGLPPPMSAA 1483 torafugu
XP_005162261 1394 HLHQQDPLHQ--GSGAHPL-VDPLaGGPHLARFPYPPGAIPNPLLGQPPHEHEMLRHPVF-GTPYPRDLPAGLPPPMSAA 1469 zebrafish
XP_005459105 1068 HLHQQDPLGQ--GSSPHPL-VDPLaTGPRLARFPFPAGPIPNPLLSDLPHDHEMLRHPLF-GAAYPRELQGPI-PPMSAA 1142 Nile tilapia
XP_022531459 1109 HLHQQDPLNQ--GSGPHPL-VDPLaAGPPLARFPYPPGAIPNALLSELPHEHEMLRHPLFgEGSIPRDIPGPL-GPMSAA 1184 Mexican tetra
XP_014342207 1394 HLHQQDPLHQgsTGPVHPL-VDPL-AGPHLARFPYPPSAIPNPLLGQPPHEHEMLRHPVF-GTPYPRDLPGPLPPPMSAA 1470 coelacanth
Q62901       1508 HQLQAM-HAQSAELQRLAMEQQWLHGHPHMHGGHLPSQEDYYSRLKKEGDKQ 1558 Norway rat
XP_003963165 1484 HQLQAM-HAQSAELQRLAMEQQWLHGHHPMHGGPLPGQEDYYSRLKKESDKQ 1534 torafugu
XP_005162261 1470 HQLQAM-HAQSAELQRLAMEQQWLHGHHHMHGGPLPGQEDYYSRLKKESDKQ 1520 zebrafish
XP_005459105 1143 HQLQAM-HAQSAELQRMAMEQQWLHGH-HLHGGPLPGQEDYYSRLKKEGDKP 1192 Nile tilapia
XP_022531459 1185 HQLQAM-QVQSAELQRLALEQQWLHGHAHLHSAPLPNQEDYYSRLKKEGDKQ 1235 Mexican tetra
XP_014342207 1471 HQLQAMhHAQSAELQRLAMEQQWLHGHPHMHGAHLPGQEDYYSRLKKENDKQ 1522 coelacanth
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