LOCUS       NM_144884               1452 bp    mRNA    linear   ROD 11-DEC-2024
DEFINITION  Mus musculus torsin family 1, member A (torsin A) (Tor1a), mRNA.
ACCESSION   NM_144884
VERSION     NM_144884.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1452)
  AUTHORS   Kim,S., Phan,S., Tran,H.T., Shaw,T.R., Shahmoradian,S.H.,
            Ellisman,M.H., Veatch,S.L., Barmada,S.J., Pappas,S.S. and
            Dauer,W.T.
  TITLE     TorsinA is essential for neuronal nuclear pore complex localization
            and maturation
  JOURNAL   Nat Cell Biol 26 (9), 1482-1495 (2024)
   PUBMED   39117796
REFERENCE   2  (bases 1 to 1452)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   3  (bases 1 to 1452)
  AUTHORS   Hernandez-Ono,A., Zhao,Y.P., Murray,J.W., Ostlund,C., Lee,M.J.,
            Shi,A., Dauer,W.T., Worman,H.J., Ginsberg,H.N. and Shin,J.Y.
  TITLE     Dynamic regulation of hepatic lipid metabolism by torsinA and its
            activators
  JOURNAL   JCI Insight 9 (3), e175328 (2024)
   PUBMED   38194265
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1452)
  AUTHORS   Wilkes,B.J., Adury,R.Z., Berryman,D., Concepcion,L.R., Liu,Y.,
            Yokoi,F., Maugee,C., Li,Y. and Vaillancourt,D.E.
  TITLE     Cell-specific Dyt1 GAG knock-in to basal ganglia and cerebellum
            reveal differential effects on motor behavior and sensorimotor
            network function
  JOURNAL   Exp Neurol 367, 114471 (2023)
   PUBMED   37321386
  REMARK    GeneRIF: Cell-specific Dyt1 GAG knock-in to basal ganglia and
            cerebellum reveal differential effects on motor behavior and
            sensorimotor network function.
REFERENCE   5  (bases 1 to 1452)
  AUTHORS   Pocratsky,A.M., Nascimento,F., Ozyurt,M.G., White,I.J.,
            Sullivan,R., O'Callaghan,B.J., Smith,C.C., Surana,S., Beato,M. and
            Brownstone,R.M.
  TITLE     Pathophysiology of Dyt1-Tor1a dystonia in mice is mediated by
            spinal neural circuit dysfunction
  JOURNAL   Sci Transl Med 15 (694), eadg3904 (2023)
   PUBMED   37134150
  REMARK    GeneRIF: Pathophysiology of Dyt1-Tor1a dystonia in mice is mediated
            by spinal neural circuit dysfunction.
REFERENCE   6  (bases 1 to 1452)
  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
  REMARK    GeneRIF: identifed lamina-associated polypeptide 1 (LAP1) as a
            torsinA-interacting protein; also identifed a novel transmembrane
            protein, lumenal domain like LAP1 (LULL1), which also appears to
            interact with torsinA
REFERENCE   7  (bases 1 to 1452)
  AUTHORS   Kuner,R., Teismann,P., Trutzel,A., Naim,J., Richter,A., Schmidt,N.,
            Bach,A., Ferger,B. and Schneider,A.
  TITLE     TorsinA, the gene linked to early-onset dystonia, is upregulated by
            the dopaminergic toxin MPTP in mice
  JOURNAL   Neurosci Lett 355 (1-2), 126-130 (2004)
   PUBMED   14729251
  REMARK    GeneRIF: TorsinA is significantly increased in the brain within
            hours of treatment with the dopaminergic toxin,
            1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine in mice, suggesting
            that the TorsinA gene is regulated by cellular stress.
REFERENCE   8  (bases 1 to 1452)
  AUTHORS   Ziefer,P., Leung,J., Razzano,T., Shalish,C., LeDoux,M.S.,
            Lorden,J.F., Ozelius,L., Breakefield,X.O., Standaert,D.G. and
            Augood,S.J.
  TITLE     Molecular cloning and expression of rat torsinA in the normal and
            genetically dystonic (dt) rat
  JOURNAL   Brain Res Mol Brain Res 101 (1-2), 132-135 (2002)
   PUBMED   12007841
REFERENCE   9  (bases 1 to 1452)
  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
REFERENCE   10 (bases 1 to 1452)
  AUTHORS   Ozelius,L.J., Page,C.E., Klein,C., Hewett,J.W., Mineta,M.,
            Leung,J., Shalish,C., Bressman,S.B., de Leon,D., Brin,M.F.,
            Fahn,S., Corey,D.P. and Breakefield,X.O.
  TITLE     The TOR1A (DYT1) gene family and its role in early onset torsion
            dystonia
  JOURNAL   Genomics 62 (3), 377-384 (1999)
   PUBMED   10644435
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL844532.18, BY724297.1, AK038891.1 and AK160361.1.
            
            On Apr 22, 2010 this sequence version replaced NM_144884.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AK160361.1, BC017683.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849386, SAMN01164131
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                AL844532.18        198919-198929       c
            12-627              BY724297.1         1-616
            628-1385            AK038891.1         586-1343
            1386-1452           AK160361.1         1342-1408
FEATURES             Location/Qualifiers
     source          1..1452
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="2"
                     /map="2 21.77 cM"
     gene            1..1452
                     /gene="Tor1a"
                     /gene_synonym="DQ2; Dyt1; torsinA"
                     /note="torsin family 1, member A (torsin A)"
                     /db_xref="GeneID:30931"
                     /db_xref="MGI:MGI:1353568"
     exon            1..245
                     /gene="Tor1a"
                     /gene_synonym="DQ2; Dyt1; torsinA"
                     /inference="alignment:Splign:2.1.0"
     CDS             65..1066
                     /gene="Tor1a"
                     /gene_synonym="DQ2; Dyt1; torsinA"
                     /note="torsin-1A; dystonia 1 protein; torsin family 1
                     member A; torsin ATPase 1"
                     /codon_start=1
                     /product="torsin-1A precursor"
                     /protein_id="NP_659133.1"
                     /db_xref="CCDS:CCDS15891.1"
                     /db_xref="GeneID:30931"
                     /db_xref="MGI:MGI:1353568"
                     /translation="MKLGRAALALLLLAPCVVRAVEPISLSLALAGVLTTYISYPRLY
                     CLFAECCGQMRSLSREALQKDLDNKLFGQHLAKKVILNAVSGFLSNPKPKKPLTLSLH
                     GWTGTGKNFASKIIAENIYEGGLNSDYVHLFVATLHFPHASNITQYKDQLQMWIRGNV
                     SACARSIFIFDEMDKMHAGLIDAIKPFLDYYDVVDEVSYQKAIFIFLSNAGAERITDV
                     ALDFWKSGKQREEIKLRDMEPALAVSVFNNKNSGFWHSSLIDRNLIDYFVPFLPLEYK
                     HLKMCIRVEMQSRGYEVDEDIISKVAEEMTFFPKEEKVFSDKGCKTVFTKLDYYLDD"
     exon            246..511
                     /gene="Tor1a"
                     /gene_synonym="DQ2; Dyt1; torsinA"
                     /inference="alignment:Splign:2.1.0"
     exon            512..687
                     /gene="Tor1a"
                     /gene_synonym="DQ2; Dyt1; torsinA"
                     /inference="alignment:Splign:2.1.0"
     exon            688..815
                     /gene="Tor1a"
                     /gene_synonym="DQ2; Dyt1; torsinA"
                     /inference="alignment:Splign:2.1.0"
     exon            816..1452
                     /gene="Tor1a"
                     /gene_synonym="DQ2; Dyt1; torsinA"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1373
                     /gene="Tor1a"
                     /gene_synonym="DQ2; Dyt1; torsinA"
                     /note="major polyA site"
ORIGIN      
        1 gcggtgcgcg gggtacggtg ggcgctgggc gggcgctggg cgcgcaaggt gcgcgggtcc
       61 ggttatgaag cttggccggg ccgctctggc cctgctgctg ctggcgccgt gcgtggttcg
      121 tgcggtggag cccatcagcc tgagtctggc cctggccggc gtactcacca cctatatctc
      181 ctaccctcgt ctctactgcc tcttcgccga gtgctgcggc cagatgcgga gcctcagccg
      241 ggaggcgctg cagaaagatc tggataacaa gctctttgga cagcatcttg caaaaaaagt
      301 catcctaaac gccgtgtctg gtttcctaag caacccgaag cccaagaagc cccttaccct
      361 ctctctgcac gggtggacgg gcaccggcaa aaacttcgcc agcaagatca tcgcggagaa
      421 tatttacgag ggcggactga acagtgacta tgtacacctg tttgtggcca cgctacactt
      481 cccccacgcc tctaacatca cacagtataa ggaccagtta cagatgtgga tcagaggcaa
      541 cgtgagcgcc tgtgctcgct ccatcttcat ctttgatgag atggacaaga tgcatgccgg
      601 cctcatcgac gccatcaagc ctttcctaga ctattacgat gtggtagatg aggtctccta
      661 tcagaaagcc atcttcatct tcctcagcaa tgcaggggca gagaggatca cagacgtggc
      721 tctggatttc tggaaaagtg ggaagcagag ggaagaaatc aagctcagag acatggagcc
      781 cgccctggcc gtgtcggtct tcaataacaa gaacagtggc ttctggcaca gcagcctcat
      841 tgaccggaac ctcatagatt attttgtccc cttcctgccc ctggagtaca agcacctgaa
      901 aatgtgcatc agagtggaga tgcagtcccg aggctatgaa gtagatgagg acatcatcag
      961 caaggtagcg gaagagatga cgttcttccc caaggaggag aaggtcttct ctgacaaggg
     1021 ctgcaagact gtgttcacca agctggacta ctacctggat gactgaggcc ggctgccagg
     1081 gctgtgtcag tccgctcctc cccagaagag gcttggacac ttcctgctga ggttagcggg
     1141 agaatcctgt ttctgctcct cagagcctgc aggtgaccgc gctgtaggga ccacagatgc
     1201 aacatggacc tgaagctcct ggagcctcca gagatgaaag cagctcccag cattctggac
     1261 ttgtgatttt tttaaaatta tgttttaatt tcaggtgttt ctgttttgag gcagaacaag
     1321 taagttttac tgcaaatgtg ataacgtttt atttaaaatg gtttttaata ctataagaag
     1381 ctttcagcgg tggctttgtg tgtcttttga aactgttgga tgacattacc agtatttcta
     1441 cttcagaaac cc
//
