5J1T


Conserved Protein Domain Family
Torsin

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pfam06309: Torsin 
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Torsin
This family consists of several eukaryotic torsin proteins. Torsion dystonia is an autosomal dominant movement disorder characterized by involuntary, repetitive muscle contractions and twisted postures. The most severe early-onset form of dystonia has been linked to mutations in the human DYT1 (TOR1A) gene encoding a protein termed torsinA. While causative genetic alterations have been identified, the function of torsin proteins and the molecular mechanism underlying dystonia remain unknown. Phylogenetic analysis of the torsin protein family indicates these proteins share distant sequence similarity with the large and diverse family of (pfam00004) proteins. It has been suggested that torsins play a role in effectively managing protein folding and that possible breakdown in a neuroprotective mechanism that is, in part, mediated by torsins may be responsible for the neuronal dysfunction associated with dystonia.
Statistics
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PSSM-Id: 399367
Aligned: 8 rows
Threshold Bit Score: 196.41
Threshold Setting Gi: 27923997
Created: 27-Apr-2021
Updated: 29-Sep-2021
Structure
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Program:
Drawing:
Aligned Rows:
PubMed ReferencesClick to see Conserved Features Help

Sequence Alignment
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Format: Row Display: Color Bits: Type Selection:
5J1T_A         3 G---QKR-SLSREALQKDLDDNLFGQHLAKKIILNAVFGFINNP-KPKKPLTLSLHGWTGTGKNFVSKIIAENIYEGGLN 77  human
Q9ER38       100 SgggDCRiSNNLTGLESDLRVRLHGQHLASKLVLRAVKGYLEMP-QVGKALALSFHGWSGTGKNFLARILMDNLYRDGMR 178 house mouse
Q8R1J9        42 E---CDF-WPDLPGLECDLAQHLAGQHLAKALVVKSLKAFVQDP-APSKPLVLSLHGWTGTGKSYVSSLLAQHLFRDGLR 116 house mouse
Q9H497       113 Pr-gDCRiSNNFTGLEWDLNVRLHGQHLVQQLVLRTVRGYLETP-QPEKALALSFHGWSGTGKNFVARMLVENLYRDGLM 190 human
O77277        55 D---DRNiPARIDELERSLERTLIGQHIVRQHIVPALKAHIASGnKSRKPLVISFHGQPGTGKNFVAEQIADAMYLKGSR 131 fruit fly
Q95NU5        58 H---EPDvNFNYHTLDADIANLLFGQHLVKDVVVNSIKSHWYNE-NPRKPLVLSFHGYTGSGKNYVAEIIANNTFRLGLR 133 Caenorhabditis ...
Q9XXG5       114 G---ETDi-FNYHALYKDFDNKIFGQHLMAESVVHSIKSHWHNE-HSQKPLVLSFHGGTGTGKNYVTEIIVNNTYRSGMH 188 Caenorhabditis ...
1_pfamImport   8 F---ETDi-FDYLKLHRDLSRFIYGQHLVIDTVVRSIKSHWHNE-HPQKPLVLSFHGGPGTGKNYVTEIIAKNTFRSGLQ 82 
5J1T_A        78 SDYVHLFVATLHFPHASNITLYKDQLQLWIRGNVSACARSIFIF 121 human
Q9ER38       179 SDCVKMFISTFHFPHPKYVDTYKEELQRQMQETQWRCHQSTFVF 222 house mouse
Q8R1J9       117 SPHVHHFSPIIHFPHPSRTEQYKKELKSWVQGNLTACGRSLFLF 160 house mouse
Q9H497       191 SDCVRMFIATFHFPHPKYVDLYKEQLMSQIRETQQLCHQTLFIF 234 human
O77277       132 SNYVTKYLGQADFPKESEVSNYRVKINNAVRDTLRSCPRSLFIF 175 fruit fly
Q95NU5       134 STFVQHIVATNDFPDKNKLEEYQVELRNRILTTVQKCQRSIFIF 177 Caenorhabditis elegans
Q9XXG5       189 SPFVNYFVATNNFPNKKYIEDYKLELKDQLIRSARRCQRSIFIF 232 Caenorhabditis elegans
1_pfamImport  83 SPYVKYFVATKDFPNNKHIEDYKLKLKEQLIQSADGCDRSIFVF 126
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