LOCUS       NM_022371               2031 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens torsin family 3 member A (TOR3A), mRNA.
ACCESSION   NM_022371
VERSION     NM_022371.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2031)
  AUTHORS   Qi,J., Du,L., Deng,J., Qin,Y., Su,G., Hou,S., Lv,M., Zhang,Q.,
            Kijlstra,A. and Yang,P.
  TITLE     Replication of Genome-Wide Association Analysis Identifies New
            Susceptibility Loci at Long Noncoding RNA Regions for
            Vogt-Koyanagi-Harada Disease
  JOURNAL   Invest Ophthalmol Vis Sci 60 (14), 4820-4829 (2019)
   PUBMED   31747682
  REMARK    GeneRIF: Our study identified five new loci associated with VKH
            susceptibility and identified a functional variant
            (lnc-TOR3A-1:1/rs3829794) that confers risk for VKH, which is
            possibly mediated by modulating gene expression, proliferation of
            lymphocytes, and regulation of anti-inflammatory cytokine
            production.
REFERENCE   2  (bases 1 to 2031)
  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 2031)
  AUTHORS   Davila,S., Froeling,F.E., Tan,A., Bonnard,C., Boland,G.J.,
            Snippe,H., Hibberd,M.L. and Seielstad,M.
  TITLE     New genetic associations detected in a host response study to
            hepatitis B vaccine
  JOURNAL   Genes Immun 11 (3), 232-238 (2010)
   PUBMED   20237496
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 2031)
  AUTHORS   Jungwirth,M., Dear,M.L., Brown,P., Holbrook,K. and Goodchild,R.
  TITLE     Relative tissue expression of homologous torsinB correlates with
            the neuronal specific importance of DYT1 dystonia-associated
            torsinA
  JOURNAL   Hum Mol Genet 19 (5), 888-900 (2010)
   PUBMED   20015956
REFERENCE   5  (bases 1 to 2031)
  AUTHORS   Gonzalez-Begne,M., Lu,B., Han,X., Hagen,F.K., Hand,A.R.,
            Melvin,J.E. and Yates,J.R.
  TITLE     Proteomic analysis of human parotid gland exosomes by
            multidimensional protein identification technology (MudPIT)
  JOURNAL   J Proteome Res 8 (3), 1304-1314 (2009)
   PUBMED   19199708
REFERENCE   6  (bases 1 to 2031)
  AUTHORS   Dron,M., Meritet,J.F., Dandoy-Dron,F., Meyniel,J.P., Maury,C. and
            Tovey,M.G.
  TITLE     Molecular cloning of ADIR, a novel interferon responsive gene
            encoding a protein related to the torsins
  JOURNAL   Genomics 79 (3), 315-325 (2002)
   PUBMED   11863361
REFERENCE   7  (bases 1 to 2031)
  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
            DA942161.1, AJ299403.1 and BC011746.1.
            
            On Nov 22, 2018 this sequence version replaced NM_022371.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC018292.1, AK025998.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367627.8/ ENSP00000356599.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                DA942161.1         94-111
            19-1305             AJ299403.1         1-1287
            1306-2031           BC011746.1         1284-2009
FEATURES             Location/Qualifiers
     source          1..2031
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q25.2"
     gene            1..2031
                     /gene="TOR3A"
                     /gene_synonym="ADIR; ADIR2"
                     /note="torsin family 3 member A"
                     /db_xref="GeneID:64222"
                     /db_xref="HGNC:HGNC:11997"
                     /db_xref="MIM:607555"
     exon            1..318
                     /gene="TOR3A"
                     /gene_synonym="ADIR; ADIR2"
                     /inference="alignment:Splign:2.1.0"
     CDS             60..1253
                     /gene="TOR3A"
                     /gene_synonym="ADIR; ADIR2"
                     /note="ATP-dependant interferon response protein 1;
                     torsin-3A; ATP-dependant interferon responsive;
                     ATP-dependent interferon-responsive protein; epididymis
                     secretory sperm binding protein"
                     /codon_start=1
                     /product="torsin-3A precursor"
                     /protein_id="NP_071766.2"
                     /db_xref="CCDS:CCDS1329.1"
                     /db_xref="GeneID:64222"
                     /db_xref="HGNC:HGNC:11997"
                     /db_xref="MIM:607555"
                     /translation="MLRGPWRQLWLFFLLLLPGAPEPRGASRPWEGTDEPGSAWAWPG
                     FQRLQEQLRAAGALSKRYWTLFSCQVWPDDCDEDEEAATGPLGWRLPLLGQRYLDLLT
                     TWYCSFKDCCPRGDCRISNNFTGLEWDLNVRLHGQHLVQQLVLRTVRGYLETPQPEKA
                     LALSFHGWSGTGKNFVARMLVENLYRDGLMSDCVRMFIATFHFPHPKYVDLYKEQLMS
                     QIRETQQLCHQTLFIFDEAEKLHPGLLEVLGPHLERRAPEGHRAESPWTIFLFLSNLR
                     GDIINEVVLKLLKAGWSREEITMEHLEPHLQAEIVETIDNGFGHSRLVKENLIDYFIP
                     FLPLEYRHVRLCARDAFLSQELLYKEETLDEIAQMMVYVPKEEQLFSSQGCKSISQRI
                     NYFLS"
     exon            319..432
                     /gene="TOR3A"
                     /gene_synonym="ADIR; ADIR2"
                     /inference="alignment:Splign:2.1.0"
     exon            433..698
                     /gene="TOR3A"
                     /gene_synonym="ADIR; ADIR2"
                     /inference="alignment:Splign:2.1.0"
     exon            699..877
                     /gene="TOR3A"
                     /gene_synonym="ADIR; ADIR2"
                     /inference="alignment:Splign:2.1.0"
     exon            878..1002
                     /gene="TOR3A"
                     /gene_synonym="ADIR; ADIR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1003..2031
                     /gene="TOR3A"
                     /gene_synonym="ADIR; ADIR2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2007..2012
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TOR3A"
                     /gene_synonym="ADIR; ADIR2"
                     /note="hexamer: ATTAAA"
     polyA_site      2031
                     /gene="TOR3A"
                     /gene_synonym="ADIR; ADIR2"
                     /note="major polyA site"
ORIGIN      
        1 gggcttaagg gagcctggct aggccggcag ccggatggtc ccgcagctcg gggccggcca
       61 tgcttcgcgg tccgtggcgc cagctttggc tctttttcct gctgctgctc ccgggcgcgc
      121 ctgagccccg cggcgcctcc aggccgtggg agggaaccga cgagccgggc tcggcctggg
      181 cctggccggg cttccagcgc ctgcaggagc agctcagggc ggcgggtgcc ctctccaagc
      241 ggtactggac gctcttcagc tgccaggtgt ggcccgacga ctgtgacgag gacgaggagg
      301 cagccacggg gcccctgggc tggcgccttc ctctgttggg ccagcggtac ctggacctcc
      361 tgaccacgtg gtactgcagc ttcaaagact gctgccctag aggggattgc agaatctcca
      421 acaactttac aggcttagag tgggacctga atgtgcggct gcatggccag catttggtcc
      481 agcagctggt cctaagaaca gtgaggggct acttagagac gccccagcca gaaaaggccc
      541 ttgctctgtc gttccacggc tggtctggca caggcaagaa cttcgtggca cggatgctgg
      601 tggagaacct gtatcgggac gggctgatga gtgactgtgt caggatgttc atcgccacgt
      661 tccactttcc tcaccccaaa tatgtggacc tgtacaagga gcagctgatg agccagatcc
      721 gggagacgca gcagctctgc caccagaccc tgttcatctt cgatgaagcg gagaagctgc
      781 acccagggct gctggaggtc cttgggccac acttagaacg ccgggcccct gagggccaca
      841 gggctgagtc tccatggact atctttctgt ttctcagtaa tctcaggggc gatataatca
      901 atgaggtggt cctaaagttg ctcaaggctg gatggtcccg ggaagaaatt acgatggaac
      961 acctggagcc ccacctccag gcggagattg tggagaccat agacaatggc tttggccaca
     1021 gccgtcttgt gaaggaaaac ctgattgact acttcatccc cttcctgcct ttggagtacc
     1081 gtcacgtgag gctgtgtgca cgggatgcct tcctgagcca ggagctcctg tataaagaag
     1141 agacactgga tgaaatagcc cagatgatgg tgtatgtccc caaggaggaa caactctttt
     1201 cttcccaggg ctgcaagtct atttcccaga ggattaacta cttcctgtca tgaaggctag
     1261 aggaagactt cctggaactg cctttcttcc actaacagga ccctgggacc tgtaggagca
     1321 ccccgtttgg gactgtgagg tgtttgaggg tgtggactgg catccagcag ccactaacaa
     1381 acacacaact ggtgtgtaaa aggcaggcct tacattagaa gccaagccaa tcctttttct
     1441 tttttttgga ggtcccaccg agatagatag gaacttggat tgctgaattc aaaaacagag
     1501 cccattctta agatcacttg gtgccttaaa gacacgcatt ccaaagtgga atgtggttga
     1561 agaaagtggg ccaggtggtt gaagaaagcc atgtgggagc tcagcaaatc ccaagggctt
     1621 attatgacac tccagatggt ctccttagca tctcagctct tctgcaagga agagcttggg
     1681 tgttaggcct cagaggctgt agggtccttg ggttacagag ccggggagaa cgaagttctg
     1741 tgacccaggg gtggagaata cactctaggt ttgcaggctg gtgggctttc aaattggtac
     1801 ttccagagga aagccaagct gcttctgttg tgagcgaatc agccaagagc ctgaggctga
     1861 agggaaaagt acacagagga agatatttta caaaccaggt cagtgtaggc caagacttat
     1921 ggtctacaga ttttggcggg ggagggggga ccttttcaaa gacaataggg ggtcttgaca
     1981 tgtttgttgt atgtaaagat gataagatta aaatttttga ttttcctaaa a
//
