LOCUS       NM_153303               1401 bp    mRNA    linear   ROD 04-JUN-2024
DEFINITION  Rattus norvegicus torsin family 1, member A (Tor1a), mRNA.
ACCESSION   NM_153303
VERSION     NM_153303.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 1401)
  AUTHORS   Beauvais,G., Rodriguez-Losada,N., Ying,L., Zakirova,Z.,
            Watson,J.L., Readhead,B., Gadue,P., French,D.L., Ehrlich,M.E. and
            Gonzalez-Alegre,P.
  TITLE     Exploring the Interaction Between eIF2alpha Dysregulation, Acute
            Endoplasmic Reticulum Stress and DYT1 Dystonia in the Mammalian
            Brain
  JOURNAL   Neuroscience 371, 455-468 (2018)
   PUBMED   29289717
  REMARK    GeneRIF: TorsinA was post-transcriptionally upregulated upon acute
            ER stress, suggesting a role in this response. Increased basal
            phosphorylation of eIF2alpha in DYT1 transgenic rats was associated
            with abnormal response to acute ER stress. Unbiased RNA-Seq-based
            transcriptomic analysis of embryonic brain tissue in heterozygous
            and homozygous DYT1 knockin mice confirmed presence of eIF2alpha
            dysregulation in the DYT1 brain.
REFERENCE   2  (bases 1 to 1401)
  AUTHORS   Zhao,C., Brown,R.S., Chase,A.R., Eisele,M.R. and Schlieker,C.
  TITLE     Regulation of Torsin ATPases by LAP1 and LULL1
  JOURNAL   Proc Natl Acad Sci U S A 110 (17), E1545-E1554 (2013)
   PUBMED   23569223
REFERENCE   3  (bases 1 to 1401)
  AUTHORS   Grundmann,K., Glockle,N., Martella,G., Sciamanna,G., Hauser,T.K.,
            Yu,L., Castaneda,S., Pichler,B., Fehrenbacher,B., Schaller,M.,
            Nuscher,B., Haass,C., Hettich,J., Yue,Z., Nguyen,H.P., Pisani,A.,
            Riess,O. and Ott,T.
  TITLE     Generation of a novel rodent model for DYT1 dystonia
  JOURNAL   Neurobiol Dis 47 (1), 61-74 (2012)
   PUBMED   22472189
  REMARK    GeneRIF: developed transgenic rat models for DYT1 dystonia
            harboring the full length human mutant and wildtype Tor1A gene.
REFERENCE   4  (bases 1 to 1401)
  AUTHORS   Granata,A., Koo,S.J., Haucke,V., Schiavo,G. and Warner,T.T.
  TITLE     CSN complex controls the stability of selected synaptic proteins
            via a torsinA-dependent process
  JOURNAL   EMBO J 30 (1), 181-193 (2011)
   PUBMED   21102408
REFERENCE   5  (bases 1 to 1401)
  AUTHORS   Kim,C.E., Perez,A., Perkins,G., Ellisman,M.H. and Dauer,W.T.
  TITLE     A molecular mechanism underlying the neural-specific defect in
            torsinA mutant mice
  JOURNAL   Proc Natl Acad Sci U S A 107 (21), 9861-9866 (2010)
   PUBMED   20457914
REFERENCE   6  (bases 1 to 1401)
  AUTHORS   Goodchild,R.E. and Dauer,W.T.
  TITLE     The AAA+ protein torsinA interacts with a conserved domain present
            in LAP1 and a novel ER protein
  JOURNAL   J Cell Biol 168 (6), 855-862 (2005)
   PUBMED   15767459
REFERENCE   7  (bases 1 to 1401)
  AUTHORS   Torres,G.E., Sweeney,A.L., Beaulieu,J.M., Shashidharan,P. and
            Caron,M.G.
  TITLE     Effect of torsinA on membrane proteins reveals a loss of function
            and a dominant-negative phenotype of the dystonia-associated
            DeltaE-torsinA mutant
  JOURNAL   Proc Natl Acad Sci U S A 101 (44), 15650-15655 (2004)
   PUBMED   15505207
REFERENCE   8  (bases 1 to 1401)
  AUTHORS   Kamm,C., Boston,H., Hewett,J., Wilbur,J., Corey,D.P., Hanson,P.I.,
            Ramesh,V. and Breakefield,X.O.
  TITLE     The early onset dystonia protein torsinA interacts with kinesin
            light chain 1
  JOURNAL   J Biol Chem 279 (19), 19882-19892 (2004)
   PUBMED   14970196
  REMARK    GeneRIF: wild-type torsinA undergoes anterograde transport along
            microtubules mediated by kinesin and may act as a molecular
            chaperone regulating kinesin activity and/or cargo binding
REFERENCE   9  (bases 1 to 1401)
  AUTHORS   Hewett,J., Ziefer,P., Bergeron,D., Naismith,T., Boston,H.,
            Slater,D., Wilbur,J., Schuback,D., Kamm,C., Smith,N., Camp,S.,
            Ozelius,L.J., Ramesh,V., Hanson,P.I. and Breakefield,X.O.
  TITLE     TorsinA in PC12 cells: localization in the endoplasmic reticulum
            and response to stress
  JOURNAL   J Neurosci Res 72 (2), 158-168 (2003)
   PUBMED   12671990
  REMARK    GeneRIF: Mutant torsinA may interfere with and/or compromise ER
            functions, especially in dopaminergic neurons, which have high
            levels of torsinA and are intrinsically vulnerable to oxidative
            stress.
REFERENCE   10 (bases 1 to 1401)
  AUTHORS   Konakova,M. and Pulst,S.M.
  TITLE     Immunocytochemical characterization of torsin proteins in mouse
            brain
  JOURNAL   Brain Res 922 (1), 1-8 (2001)
   PUBMED   11730696
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from BC078714.1.
            
            On Aug 23, 2004 this sequence version replaced NM_153303.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC078714.1, AY054303.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA5760400, SAMN16676787
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1401
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10116"
                     /chromosome="3"
                     /map="3p12"
     gene            1..1401
                     /gene="Tor1a"
                     /gene_synonym="Dyt1"
                     /note="torsin family 1, member A"
                     /db_xref="GeneID:266606"
                     /db_xref="RGD:628863"
     exon            1..219
                     /gene="Tor1a"
                     /gene_synonym="Dyt1"
                     /inference="alignment:Splign:2.1.0"
     CDS             39..1040
                     /gene="Tor1a"
                     /gene_synonym="Dyt1"
                     /note="torsin A; dystonia 1, torsion (autosomal dominant;
                     torsin A); torsin-1A; torsin ATPase 1; dystonia 1 protein"
                     /codon_start=1
                     /product="torsin-1A precursor"
                     /protein_id="NP_695215.2"
                     /db_xref="GeneID:266606"
                     /db_xref="RGD:628863"
                     /translation="MKLGRATLALLLLVPCVVRAVEPISLGLALAGVLTGYISYPRLY
                     CLFAECCGQKRSLSREALQKDLDNKLFGQHLAKRVILNAVSGFLSNPKPKKPLTLSLH
                     GWTGTGKNFASKIIAENIYEGGLNSDYVHLFVATLHFPHASNITLYKDQLQMWIRGNV
                     SACARSIFIFDEMDKMHAGLIDAIKPFLDYYDVVDEVSYQKAIFIFLSNAGAERITDV
                     ALDFWRSGKQREEIKLRDMEHALAVSVFNNKNSGFWHSSLIDRNLIDYFVPFLPLEYK
                     HLKMCIRVEMQSRGYEEDEDIINKVAEEMTFFPKEEKVFSDKGCKTVFTKLDYYLDD"
     exon            220..485
                     /gene="Tor1a"
                     /gene_synonym="Dyt1"
                     /inference="alignment:Splign:2.1.0"
     exon            486..661
                     /gene="Tor1a"
                     /gene_synonym="Dyt1"
                     /inference="alignment:Splign:2.1.0"
     exon            662..789
                     /gene="Tor1a"
                     /gene_synonym="Dyt1"
                     /inference="alignment:Splign:2.1.0"
     exon            790..1376
                     /gene="Tor1a"
                     /gene_synonym="Dyt1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 ggtgggcgct gagacgcgca aggtgcgcgg gtccgggcat gaagctgggc cgggccactc
       61 tggccctgct gctgctggtg ccgtgcgtgg ttcgtgcggt ggagcccatc agcctgggtc
      121 tggccctagc cggcgtactc accggctata tctcctatcc tcgcctctac tgcctcttcg
      181 ccgagtgctg cggccagaag cggagcctca gccgtgaggc gctgcagaag gatctggata
      241 acaagctctt tggacaacac cttgccaaaa gagtcatctt aaacgccgtg tctggtttcc
      301 taagcaaccc gaagcccaag aagcccctca ccctctccct gcacgggtgg acaggcaccg
      361 gcaaaaactt cgctagcaag atcatcgcag agaatattta cgagggtgga ctgaacagtg
      421 actatgtaca cctgtttgtg gccacgctac acttccccca cgcctctaac atcaccctgt
      481 ataaggacca attacagatg tggattcgag gcaacgtgag cgcctgtgct cggtccatct
      541 tcatctttga cgagatggac aagatgcacg ccggcctcat cgacgccatc aagcctttcc
      601 tagactatta cgacgtggta gatgaggtct cctatcagaa ggccatcttc atcttcctca
      661 gcaatgcagg ggcagaaagg atcacagacg tggctctgga tttctggaga agtgggaagc
      721 agagagagga gatcaagctc agagacatgg agcacgccct ggccgtgtcg gtcttcaata
      781 acaagaacag tggcttctgg cacagcagcc tcattgaccg gaacctcata gactattttg
      841 tccccttcct gcccctggag tacaagcacc tgaaaatgtg catcagagtt gagatgcagt
      901 cccgtggcta tgaagaagat gaggacataa tcaataaggt agctgaagag atgacgttct
      961 tccccaagga ggagaaggtc ttctctgaca agggctgcaa gactgtgttc accaagctgg
     1021 actactacct ggatgactga gccctgctgc caggtgctct gtagtccgct cctctcccca
     1081 caagaggctt ggacacttcc tgctgaggct agcggggatc ccatcagggg cggtttctgc
     1141 tctttggagc ctgcaggtgg ccatgatgta gggaccacag atgcaacatg gacctaaagc
     1201 tcctggagcc tccaaaggac gaaaccagct tccagcctgc ccattctggg ctcatgattt
     1261 ttttaaaatt atgttttaat ttcaagtgtt tctgttttga ggcaggacaa gtgagtttta
     1321 ctgcaaatgt gataacttta tttaaaatgg tttttaatac tatgagaagc ctttcaaaaa
     1381 aaaaaaaaaa aaaaaaaaaa a
//
