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Conserved domains on  [gi|2024335860|ref|XP_040558932|]
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transcription factor RFX4 isoform X2 [Gallus gallus]

Protein Classification

Graphical summary

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List of domain hits

 Name Accession Description Interval E-value
Atrophin-1 super family cl38111
Atrophin-1 family; Atrophin-1 is the protein product of the dentatorubral-pallidoluysian ...
 370-549 1.62e-03

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.


The actual alignment was detected with superfamily member pfam03154:

Pssm-ID: 460830 [Multi-domain]  Cd Length: 991  Bit Score: 41.68  E-value: 1.62e-03
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 2024335860 370 SPAKSATSVEVPSAPSPVSNQSPeyggiaaTTGAMQSYTWSLTYTVTTAAGSPAENSQQLPcmrSPHVPSSSVTHRIP-- 447
Cdd:pfam03154 190 GTTQAATAGPTPSAPSVPPQGSP-------ATSQPPNQTQSTAAPHTLIQQTPTLHPQRLP---SPHPPLQPMTQPPPps 259

                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 2024335860 448 -----VYPHREEHG----YTGSYNYGSYSNQHPHP----------MQSQYPSLPhDTAISGPLHySAYHRSSSQYPFNSP 508
Cdd:pfam03154 260 qvspqPLPQPSLHGqmppMPHSLQTGPSHMQHPVPpqpfpltpqsSQSQVPPGP-SPAAPGQSQ-QRIHTPPSQSQLQSQ 337

                         170       180       190       200
                  ....*....|....*....|....*....|....*....|....
gi 2024335860 509 TSRME---PCLMSSTPRLHPTPVTPrWPEVPAANScYTSPPMHS 549
Cdd:pfam03154 338 QPPREqplPPAPLSMPHIKPPPTTP-IPQLPNPQS-HKHPPHLS 379
 
Name Accession Description Interval E-value
Atrophin-1 pfam03154
Atrophin-1 family; Atrophin-1 is the protein product of the dentatorubral-pallidoluysian ...
 370-549 1.62e-03

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.


Pssm-ID: 460830 [Multi-domain]  Cd Length: 991  Bit Score: 41.68  E-value: 1.62e-03
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 2024335860 370 SPAKSATSVEVPSAPSPVSNQSPeyggiaaTTGAMQSYTWSLTYTVTTAAGSPAENSQQLPcmrSPHVPSSSVTHRIP-- 447
Cdd:pfam03154 190 GTTQAATAGPTPSAPSVPPQGSP-------ATSQPPNQTQSTAAPHTLIQQTPTLHPQRLP---SPHPPLQPMTQPPPps 259

                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 2024335860 448 -----VYPHREEHG----YTGSYNYGSYSNQHPHP----------MQSQYPSLPhDTAISGPLHySAYHRSSSQYPFNSP 508
Cdd:pfam03154 260 qvspqPLPQPSLHGqmppMPHSLQTGPSHMQHPVPpqpfpltpqsSQSQVPPGP-SPAAPGQSQ-QRIHTPPSQSQLQSQ 337

                         170       180       190       200
                  ....*....|....*....|....*....|....*....|....
gi 2024335860 509 TSRME---PCLMSSTPRLHPTPVTPrWPEVPAANScYTSPPMHS 549
Cdd:pfam03154 338 QPPREqplPPAPLSMPHIKPPPTTP-IPQLPNPQS-HKHPPHLS 379
 
Name Accession Description Interval E-value
Atrophin-1 pfam03154
Atrophin-1 family; Atrophin-1 is the protein product of the dentatorubral-pallidoluysian ...
 370-549 1.62e-03

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.


Pssm-ID: 460830 [Multi-domain]  Cd Length: 991  Bit Score: 41.68  E-value: 1.62e-03
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 2024335860 370 SPAKSATSVEVPSAPSPVSNQSPeyggiaaTTGAMQSYTWSLTYTVTTAAGSPAENSQQLPcmrSPHVPSSSVTHRIP-- 447
Cdd:pfam03154 190 GTTQAATAGPTPSAPSVPPQGSP-------ATSQPPNQTQSTAAPHTLIQQTPTLHPQRLP---SPHPPLQPMTQPPPps 259

                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 2024335860 448 -----VYPHREEHG----YTGSYNYGSYSNQHPHP----------MQSQYPSLPhDTAISGPLHySAYHRSSSQYPFNSP 508
Cdd:pfam03154 260 qvspqPLPQPSLHGqmppMPHSLQTGPSHMQHPVPpqpfpltpqsSQSQVPPGP-SPAAPGQSQ-QRIHTPPSQSQLQSQ 337

                         170       180       190       200
                  ....*....|....*....|....*....|....*....|....
gi 2024335860 509 TSRME---PCLMSSTPRLHPTPVTPrWPEVPAANScYTSPPMHS 549
Cdd:pfam03154 338 QPPREqplPPAPLSMPHIKPPPTTP-IPQLPNPQS-HKHPPHLS 379
 
Blast search parameters
Data Source: Precalculated data, version = cdd.v.3.21
Preset Options:Database: CDSEARCH/cdd   Low complexity filter: no  Composition Based Adjustment: yes   E-value threshold: 0.01

References:

  • Wang J et al. (2023), "The conserved domain database in 2023", Nucleic Acids Res.51(D)384-8.
  • Lu S et al. (2020), "The conserved domain database in 2020", Nucleic Acids Res.48(D)265-8.
  • Marchler-Bauer A et al. (2017), "CDD/SPARCLE: functional classification of proteins via subfamily domain architectures.", Nucleic Acids Res.45(D)200-3.
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