Conserved Protein Domain Family
Torsin

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pfam06309: Torsin 
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: 148114
View PSSM: pfam06309
Aligned: 8 rows
Threshold Bit Score: 214.909
Threshold Setting Gi: 27923997
Created: 27-Mar-2017
Updated: 23-May-2017
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:
                         10        20        30        40        50        60        70        80
                 ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 90101789   93 CRFQDCCSgggDCRiSNNLTGLESDLRVRLHGQHLASKLVLRAVKGYLEMP-QVGKALALSFHGWSGTGKNFLARILMDN 171
gi 13878817   44 CLFAECCG---QKR-SLSREALQKDLDDNLFGQHLAKKIILNAVFGFINNP-KPKKPLTLSLHGWTGTGKNFVSKIIAEN 118
gi 81878903   35 CTFGSFCE---CDF-WPDLPGLECDLAQHLAGQHLAKALVVKSLKAFVQDP-APSKPLVLSLHGWTGTGKSYVSSLLAQH 109
gi 74752636  106 CSFKDCCPr-gDCRiSNNFTGLEWDLNVRLHGQHLVQQLVLRTVRGYLETP-QPEKALALSFHGWSGTGKNFVARMLVEN 183
gi 27923997   48 CRFAECCD---DRNiPARIDELERSLERTLIGQHIVRQHIVPALKAHIASGnKSRKPLVISFHGQPGTGKNFVAEQIADA 124
gi 27923866   51 CYLYECCH---EPDvNFNYHTLDADIANLLFGQHLVKDVVVNSIKSHWYNE-NPRKPLVLSFHGYTGSGKNYVAEIIANN 126
gi 75029301  107 CLFYTCCG---ETDi-FNYHALYKDFDNKIFGQHLMAESVVHSIKSHWHNE-HSQKPLVLSFHGGTGTGKNYVTEIIVNN 181
gi 392901705   5 WLFCTCCF---ETDi-FDYLKLHRDLSRFIYGQHLVIDTVVRSIKSHWHNE-HPQKPLVLSFHGGPGTGKNYVTEIIAKN 79
                         90       100       110       120       130
                 ....*....|....*....|....*....|....*....|....*....|.
gi 90101789  172 LYRDGMRSDCVKMFISTFHFPHPKYVDTYKEELQRQMQETQWRCHQSTFVF 222
gi 13878817  119 IYEGGLNSDYVHLFVATLHFPHASNITLYKDQLQLWIRGNVSACARSIFIF 169
gi 81878903  110 LFRDGLRSPHVHHFSPIIHFPHPSRTEQYKKELKSWVQGNLTACGRSLFLF 160
gi 74752636  184 LYRDGLMSDCVRMFIATFHFPHPKYVDLYKEQLMSQIRETQQLCHQTLFIF 234
gi 27923997  125 MYLKGSRSNYVTKYLGQADFPKESEVSNYRVKINNAVRDTLRSCPRSLFIF 175
gi 27923866  127 TFRLGLRSTFVQHIVATNDFPDKNKLEEYQVELRNRILTTVQKCQRSIFIF 177
gi 75029301  182 TYRSGMHSPFVNYFVATNNFPNKKYIEDYKLELKDQLIRSARRCQRSIFIF 232
gi 392901705  80 TFRSGLQSPYVKYFVATKDFPNNKHIEDYKLKLKEQLIQSADGCDRSIFVF 130
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