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 characteriztic of the polyglutamine neurodegenerative disorders. This interferes with CBP-mediated transcription and causes cytotoxicity.
Statistics
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PSSM-Id: 460830
Aligned: 4 rows
Threshold Bit Score: 1072.09
Created: 21-Mar-2022
Updated: 17-Oct-2022
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 GKHSMRTRRSRGSMSTLRSGRKKQPASPDGRASPVNEDVRSSGRNSPSAASTSSNDSKAEAVKKSAKKVKEEAASPLKNT 646  Norway rat
XP_005162261  525 GKHSMRTRRNRGSMSTLRSGRKKQTASPDGRASPTNEDLRSSGRTSPSAASTSSTDSKTDSMKKPSKKTKEEAPSPMKSA 604 
XP_011620266  538 GKHSMRTRRNRGSMSTLRSGRKKQTASPDGRASPTNEDLRSSGRTSPSAASTDSTDSKMESMKKPSKKIKEEAPSPMKSA 617  torafugu
XP_014342207  524 GKHSMRTRRSRGSMSTLRSGRKKQTASPDGRASPINEDIRSSGRNSPSAASTSSNDSKADSIKKSSKKIKEDVPSPLKSA 603  coelacanth
Q62901        647 KRQREKVASDTEDTDRATSKKTKTQEISRPNSPS------EGEGESSDSRSVNDEGSSDPKDIDQDNRSTSPSIPSPQDN 720  Norway rat
XP_005162261  605 KRQREKGASDTEESERASAKKSKTQEISVPNSPSec--egEGEGESSDGRSVNDEGSSDPKDIDQDNRSSSPSIPSPRDN 682 
XP_011620266  618 KRQREKGASDTEEPERANAKKSKTQELSRPDSPSecegegEGEGESSDGRSINEELSSDPKDIDQDNRSSSPSIPSPRDN 697  torafugu
XP_014342207  604 KRQREKATSDTEEPERTATKKSKTQGISRPNTPS------EGEGESSDNRSVNDDGSSDPKDIDQDNRSTSPSIPSPQDN 677  coelacanth
Q62901        721 ESDSDSSAQQQMLQTQ-PPALQAPSGAASAPSTApp-gtTQLPTPGPTP-SATTVPPQGSP---ATS------------- 781  Norway rat
XP_005162261  683 ESDSDSSAQQQILQGQhPPVIQCQTGTLPPAPPP-----AAAASTTPTS-GAPSLSSQPSPsipPTS------------- 743 
XP_011620266  698 ESDSDSSAQQQQQQQQ-QL-LQSQHPPVIQCQPG-----TSASSAAPPP-----------P---ATSapslppqvsptaa 756  torafugu
XP_014342207  678 ESDSDSSAQQQILQTQ-PPVLQTQNGLPVPPSLPvtsapSQMATAVPPPsSTPSVPPQVSP---PVT------------- 740  coelacanth
Q62901        782 -------QPPnQTQstVAPaaHTLIQQTPtlhpPRLPSPHPPLQPMT------APPSQNSAQPHPQPsLHGQGPPGPHSL 848  Norway rat
XP_005162261  744 -------MPP-QQIppAGP--LSLIQSGV----QRLPSPHSPLQGMPq----pPPPSQTCPQALQPP-LHGPMPPMGHPL 804 
XP_011620266  757 sttlppqPLPq-----ASP--LSLIQSGAslhpQRLPSPHSPMTQAPp----pCPP--VPPQSLPSP-HHGPMPPMPHPL 822  torafugu
XP_014342207  741 -------QPPvQPQ--LPP--HTLIQQTPqlhpQRLPSPHPAVQPLTqtqtqpPPPPQVSLQPTPQAvLHTQIQPLPHSL 809  coelacanth
Q62901        849 QtGP-LLQHP--GPPQPFGltpqSSQGQGPLGPspaAAHP--------HSTIQLPASQSALQPQ---QPPREQPLPPAPL 914  Norway rat
XP_005162261  805 QaGPsHMPHPhaLPTQPFP----MAQSQVPPSP---LSGQaqaaslsqQQRPHTPPSQSQSSSQsgsQPPREQPLPPAPL 877 
XP_011620266  823 QsGPpHMPHPhsVAPQGF------GQCQVPPLP---VPGQs-------QQRSHTPPSQSSAPSGg--QPPREQPLPPAPM 884  torafugu
XP_014342207  810 Q-GPsHIQHP--VPPQPFPipsqSSQSQVPPPPqtqAPVHsqp--haaSQMQTQPPPQPQPQQP---QPPREQPLPPAPM 881  coelacanth
Q62901        915 AMPHIKPPPTTPIPQLPAPQAHKHPPHlsgPsPF-SMNANLPPPPALKPLSSLSTHHPPSAHPPPLQLMPQSQPLPSSPA 993  Norway rat
XP_005162261  878 PMPHIKPPPTTPIPQMPNAQSHKHPSH---P-PFpQMPSNLPPPPALKPLSSLSNHHPPSAHPPPLQLMSQSQQLQPPPV 953 
XP_011620266  885 SMPHIKPPPTTPISQIANPQSHKHPAHvsaP-PFpQMPSNLPPPPALKPLSSLSTHHPPSAHPPPLQLMPQGQQLQPPPA 963  torafugu
XP_014342207  882 SMPHIKPPPTTPIPPLPTPQSHKHPPHlsgPsPF-QMNSNLPPPPALKPLSSLPTHHPPSAHPPPLQLMPQSQQIPAPPA 960  coelacanth
Q62901        994 QPPGLTQSQSLPPpAA----------------SHPTt--------GGLHQVPSQSPFPQHPFVPGGPPpITPPSCPPTST 1049 Norway rat
XP_005162261  954 QPPVLTQSQTLPAtGS----------------QAPPpapplpsssSASHSAPSQPPFPPHSFMPGSSP-VLSPSTVPTSV 1016
XP_011620266  964 QPPVLTQSQSLPPsAShqppsapplppsaaaaSHPN--------------GPPQPPFATHPF----ST-VLPASGPPPSS 1024 torafugu
XP_014342207  961 QPPVLTQTPNHSA-SA----------------NHPP---------SSLHPVASQSPYPQHSFIPSGPPsITPPLGPQASA 1014 coelacanth
Q62901       1050 PPAGPssSSQPPcs--aAVSSGGNVPGAPSC------PLPAVQIKEEALDEAEEPESPPPPPRSPSPEPTVVDTPSHASQ 1121 Norway rat
XP_005162261 1017 SSSMT--TLQQP-----PPSISMPLPASVSApcpgpsTVPPVQIKEEPLDETEEPESPPPPQRSPSPPPTIVNTPSHASQ 1089
XP_011620266 1025 SNAMS--GIQPPssaatSSSISMPLPATVSCagp-gpVLPPIHIKEEPLDESEEPESPPPPQRSPSPEPTIVNTPSHASQ 1101 torafugu
XP_014342207 1015 SSSMP--GIQPPssvvtSVASSGTVPNVTTT------SVPPIQIKEEAPDEPEEPESPPPPPRSPSPEPTVVNTPNHASQ 1086 coelacanth
Q62901       1122 SARFYKHLDRGYNSCARTDLYFMPLAGSKLAKKREEAIEKAKREAEQKAREEREREKEKEKEREREREREREAERAAqKA 1201 Norway rat
XP_005162261 1090 SARFYKHLDRGYNTCARTDFYFTPLASSKLAKKREEALEKAKREAEQKAREEKEKEREREKEREREREREKEAERAA-KA 1168
XP_011620266 1102 SARFYKHLDRGYNSCARTDFYFTPLASSKLAKKREEALEKAKREAEQKAREEKEREREREKEREREREREKEAERAA-KA 1180 torafugu
XP_014342207 1087 SARFYKHLDRGYNSCSRTDLYFMPLAGSKLAKKREEALEKAKREAEQKAKEEKEREKEKEKEREREREREREAERAA-KA 1165 coelacanth
Q62901       1202 SSSAHEGRLSDPQLSGPGHMRPSFEPPPTTIAAVPPYIGPDTPALRTLSEYARPHVMSPTNRNHPFYMPLNPTDPLLAYH 1281 Norway rat
XP_005162261 1169 SSSSHESRMGEPPMAGSAHMRTSFDPPPTTIATVPPYIGPDTPALRTLSEYARPHVMSPTNRNHPFFVSLNPTDPLLAYH 1248
XP_011620266 1181 SSSSHEPRMGEPQMAGPAHMRPPFDGPPTTIAAVPPYIGPDTPALRTLSEYARPHVMSPTNRNHPFFVSLNPADPLLAYH 1260 torafugu
XP_014342207 1166 SSSSHEGRMGDPQLGGPAHIRASFEPPPTTIAAVPPYIGPDTPALRTLSEYARPHVMSPTNRNHPFFVPLNHADPLLPYH 1245 coelacanth
Q62901       1282 MPGLYNVDPTIRERELREREIREREIRERELR-ERMKPGFEVKPPELDPLHPATNPMEHFARHSALTIPPAAGPHPFASF 1360 Norway rat
XP_005162261 1249 LPGLYNADPSMRERELREREIREREIRERELRmERMKPGFEVKPPELDSLHPSANPMEHFARHGPIGLPPMAGPHPFASF 1328
XP_011620266 1261 MPGLYNADPAMRERELREREMREREIRERELR-ERMKPGFEVKPPEMDTLHPSTNPMEHFARHGAITLPHMAGPHHFASL 1339 torafugu
XP_014342207 1246 MASIYSVDPAIRERELRERELREREIRERELR-ERMKPGFEVKPPELDPLHPAANPMEHFARHGALALPPGAGPHPFAAF 1324 coelacanth
Q62901       1361 HPGLNPLERERLALAGPQLRPEMSYPDRLaAERIHAERMaslTSDPLARLQMFNVTPHHHQHSHIHSHLHLHQQDPLHQg 1440 Norway rat
XP_005162261 1329 HPGLNPLERERLALAGPQLRPEMTYPERL-AERLHVERL---ANDPMARLQMFNVTPHHHQHSHIHSHLHLHQQDPLHQ- 1403
XP_011620266 1340 HPGLNPLERERLALAGPQLRPEMTYPERLaAERLHAERMatvANDPIARLQMFNVTPHHHQHSHIHSHLHLHQQDPLHQg 1419 torafugu
XP_014342207 1325 HPGLNPLERERLALAGPQLRPEMSYPDRLaAERLHAERMaslTNDPLARLQMFNVTPHHHQHSHIHSHLHLHQQDPLHQg 1404 coelacanth
Q62901       1441 --------sAGPVHPL-VDPLtAGPHLARFPYPPGTLPNPLLGQPPHEHEMLRHPVFGTPYPRDLPGAIPPPMSAAHQLQ 1511 Norway rat
XP_005162261 1404 ---------GSGAHPL-VDPLaGGPHLARFPYPPGAIPNPLLGQPPHEHEMLRHPVFGTPYPRDLPAGLPPPMSAAHQLQ 1473
XP_011620266 1420 ggeclvcppGSGAHPLaVDPLaAGPHLARFPYPHGAIPNPLLGQPPHEHEMLRHPVFGTPYPRELPGGLPPPMSAAHQLQ 1499 torafugu
XP_014342207 1405 --------sTGPVHPL-VDPL-AGPHLARFPYPPSAIPNPLLGQPPHEHEMLRHPVFGTPYPRDLPGPLPPPMSAAHQLQ 1474 coelacanth
Q62901       1512 AM-HAQSAELQRLAMEQQWLHGHPHMHGGHLPSQEDYYSRLKKEGDKQ 1558 Norway rat
XP_005162261 1474 AM-HAQSAELQRLAMEQQWLHGHHHMHGGPLPGQEDYYSRLKKESDKQ 1520
XP_011620266 1500 AM-HAQSAELQRLAMEQQWLHGHHPMHGGPLPGQEDYYSRLKKESDKQ 1546 torafugu
XP_014342207 1475 AMhHAQSAELQRLAMEQQWLHGHPHMHGAHLPGQEDYYSRLKKENDKQ 1522 coelacanth
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