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
View PSSM: pfam06309
Aligned: 8 rows
Threshold Bit Score: 196.41
Threshold Setting Gi: 27923997
Created: 21-May-2020
Updated: 7-Aug-2020
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 ele...
Q9XXG5    114 G---ETDi-FNYHALYKDFDNKIFGQHLMAESVVHSIKSHWHNE-HSQKPLVLSFHGGTGTGKNYVTEIIVNNTYRSGMH 188 Caenorhabditis ele...
NP_502684  12 F---ETDi-FDYLKLHRDLSRFIYGQHLVIDTVVRSIKSHWHNE-HPQKPLVLSFHGGPGTGKNYVTEIIAKNTFRSGLQ 86  Caenorhabditis ele...
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
NP_502684  87 SPYVKYFVATKDFPNNKHIEDYKLKLKEQLIQSADGCDRSIFVF 130 Caenorhabditis elegans
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