LOCUS       NM_001317893            1725 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens torsin family 1 member B (TOR1B), transcript variant
            2, mRNA.
ACCESSION   NM_001317893
VERSION     NM_001317893.2
KEYWORDS    RefSeq.
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 1725)
  AUTHORS   Zhang,Y., Cai,Z., Chen,W., Ye,L. and Wu,X.
  TITLE     Prognostic implications of TOR1B expression across cancer types: a
            focus on basal-like breast cancer and cellular adaptations to
            hypoxia
  JOURNAL   J Cancer Res Clin Oncol 150 (6), 293 (2024)
   PUBMED   38842687
  REMARK    GeneRIF: Prognostic implications of TOR1B expression across cancer
            types: a focus on basal-like breast cancer and cellular adaptations
            to hypoxia.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1725)
  AUTHORS   Nguyen,M.N., Akter,S., Akhter,H., Ansary,S., Han,S., Shin,Y.,
            Ha,J., Kang,I., Kim,S.S. and Choi,T.G.
  TITLE     TOR1B: a predictor of bone metastasis in breast cancer patients
  JOURNAL   Sci Rep 13 (1), 1495 (2023)
   PUBMED   36707670
  REMARK    GeneRIF: TOR1B: a predictor of bone metastasis in breast cancer
            patients.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1725)
  AUTHORS   Rose,A.E., Zhao,C., Turner,E.M., Steyer,A.M. and Schlieker,C.
  TITLE     Arresting a Torsin ATPase reshapes the endoplasmic reticulum
  JOURNAL   J Biol Chem 289 (1), 552-564 (2014)
   PUBMED   24275647
  REMARK    GeneRIF: the induction of a conditional, dominant-negative TorsinB
            variant provokes a profound reorganization of the endomembrane
            system into foci containing double membrane structures that are
            derived from the ER.
REFERENCE   4  (bases 1 to 1725)
  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   5  (bases 1 to 1725)
  AUTHORS   Sharma,N., Franco,R.A. Jr., Kuster,J.K., Mitchell,A.A., Fuchs,T.,
            Saunders-Pullman,R., Raymond,D., Brin,M.F., Blitzer,A.,
            Bressman,S.B. and Ozelius,L.J.
  TITLE     Genetic evidence for an association of the TOR1A locus with
            segmental/focal dystonia
  JOURNAL   Mov Disord 25 (13), 2183-2187 (2010)
   PUBMED   20669276
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 1725)
  AUTHORS   Bahn,E., Siegert,S., Pfander,T., Kramer,M.L.,
            Schulz-Schaeffer,W.J., Hewett,J.W., Breakefield,X.O., Hedreen,J.C.
            and Rostasy,K.M.
  TITLE     TorsinB expression in the developing human brain
  JOURNAL   Brain Res 1116 (1), 112-119 (2006)
   PUBMED   16938275
  REMARK    GeneRIF: torsinB is needed for developmental events occurring in
            the early postnatal phase and is necessary for functional activity
            throughout life
REFERENCE   7  (bases 1 to 1725)
  AUTHORS   Hewett,J.W., Kamm,C., Boston,H., Beauchamp,R., Naismith,T.,
            Ozelius,L., Hanson,P.I., Breakefield,X.O. and Ramesh,V.
  TITLE     TorsinB--perinuclear location and association with torsinA
  JOURNAL   J Neurochem 89 (5), 1186-1194 (2004)
   PUBMED   15147511
REFERENCE   8  (bases 1 to 1725)
  AUTHORS   Konakova,M., Huynh,D.P., Yong,W. and Pulst,S.M.
  TITLE     Cellular distribution of torsin A and torsin B in normal human
            brain
  JOURNAL   Arch Neurol 58 (6), 921-927 (2001)
   PUBMED   11405807
REFERENCE   9  (bases 1 to 1725)
  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
REFERENCE   10 (bases 1 to 1725)
  AUTHORS   Augood,S.J., Martin,D.M., Ozelius,L.J., Breakefield,X.O.,
            Penney,J.B. Jr. and Standaert,D.G.
  TITLE     Distribution of the mRNAs encoding torsinA and torsinB in the
            normal adult human brain
  JOURNAL   Ann Neurol 46 (5), 761-769 (1999)
   PUBMED   10553994
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL158207.15.
            
            On Jun 1, 2019 this sequence version replaced NM_001317893.1.
            
            Summary: The protein encoded by this gene is an ATPase found
            primarily in the endoplasmic reticulum and nuclear envelope. This
            gene has a highly-similar neighboring gene, TOR1A, that encodes a
            protein that is likely to interact in a complex with this protein.
            Finally, this protein may act as a chaperone and play a role in
            maintaining the integrity of the nuclear envelope and endoplasmic
            reticulum. Several transcript variants, some protein-coding and
            others non-protein coding, have been found for this gene. [provided
            by RefSeq, Dec 2015].
            
            Transcript Variant: This variant (2) lacks an alternate exon and
            uses an alternate splice junction compared to variant 1. The
            resulting isoform (2) has a shorter and distinct C-terminus
            compared to isoform 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##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
                              SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-228               AL158207.15        4237-4464
            229-494             AL158207.15        5126-5391
            495-670             AL158207.15        8241-8416
            671-1725            AL158207.15        11280-12334
FEATURES             Location/Qualifiers
     source          1..1725
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..1725
                     /gene="TOR1B"
                     /gene_synonym="DQ1"
                     /note="torsin family 1 member B"
                     /db_xref="GeneID:27348"
                     /db_xref="HGNC:HGNC:11995"
                     /db_xref="MIM:608050"
     exon            1..228
                     /gene="TOR1B"
                     /gene_synonym="DQ1"
                     /inference="alignment:Splign:2.1.0"
     CDS             30..680
                     /gene="TOR1B"
                     /gene_synonym="DQ1"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; torsin-1B; torsin ATPase-1B; torsin B"
                     /codon_start=1
                     /product="torsin-1B isoform 2 precursor"
                     /protein_id="NP_001304822.1"
                     /db_xref="GeneID:27348"
                     /db_xref="HGNC:HGNC:11995"
                     /db_xref="MIM:608050"
                     /translation="MLRAGWLRGAAALALLLAARVVAAFEPITVGLAIGAASAITGYL
                     SYNDIYCRFAECCREERPLNASALKLDLEEKLFGQHLATEVIFKALTGFRNNKNPKKP
                     LTLSLHGWAGTGKNFVSQIVAENLHPKGLKSNFVHLFVSTLHFPHEQKIKLYQDQLQK
                     WIRGNVSACANSVFIFDEMDKLHPGIIDAIKPFLDYYEQVDGVSYRKAIFIFLRVH"
     exon            229..494
                     /gene="TOR1B"
                     /gene_synonym="DQ1"
                     /inference="alignment:Splign:2.1.0"
     exon            495..670
                     /gene="TOR1B"
                     /gene_synonym="DQ1"
                     /inference="alignment:Splign:2.1.0"
     exon            671..1725
                     /gene="TOR1B"
                     /gene_synonym="DQ1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1704..1709
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TOR1B"
                     /gene_synonym="DQ1"
                     /note="hexamer: AATAAA"
     polyA_site      1725
                     /gene="TOR1B"
                     /gene_synonym="DQ1"
                     /note="major polyA site"
ORIGIN      
        1 agtggcttct gcgggcttcg aggagcggga tgttgcgggc tgggtggctc cggggcgcgg
       61 cggcgctggc gctgctgctg gcggcccgag tggtggcggc gttcgagccc atcaccgtgg
      121 gcctagccat cggggccgcg tcggccatca ccggctacct gtcctacaat gacatctact
      181 gccgcttcgc cgagtgctgc cgcgaggagc ggccgctcaa cgcttcggct ctcaagctgg
      241 atttggagga gaagctgttt ggacagcatc tagccacgga agtgattttc aaggcgctga
      301 ctggcttcag gaacaacaaa aatcccaaga aaccactgac cctttcctta cacggctggg
      361 ctggcacagg caagaatttt gtcagtcaaa ttgtggctga aaatcttcac ccaaaaggtc
      421 tgaagagtaa ctttgtccac ctgtttgtat cgactctgca cttccctcat gagcagaaga
      481 taaaactgta ccaggaccag ttacagaagt ggatccgcgg taatgtgagt gcatgtgcga
      541 actctgtttt catatttgac gagatggata aattgcaccc cgggatcatt gacgcaatca
      601 agccgtttct agactactac gagcaggttg acggagtgtc ttaccgcaaa gccatcttca
      661 tctttctcag agttcactga cttgaagtat actcagttaa aatcggggct ggaggtgcag
      721 acggtgtctg accggaggat gtggccgtgc ccgccgagca ctcttgatct gagctgacct
      781 gtgtgtgtgt gtgtgggggg gtggggcctt cacctaagac ctctgcagca gacctggaca
      841 gacaggcccc tcccgcctgt ccatcgctct agctgctaat acagccctgg ctgtggaatc
      901 cttcaccgtc tcagctggta tcagccccag cctgccttgt gccatatctc agcttggatc
      961 tctgctagag tccccccaac catatatcat agagttgaat cacaatgaga ccgttggctt
     1021 tgaatttgag tcgttggttc ccatggtgag atgcttgtta agactttata cttgggtcaa
     1081 tctctcactt tattttgtag aaccatttga aatcctagga tgtgcttgtt ctggaaggat
     1141 gacatgggcc cagactgaac aagtcagctt gatgatctta aatgatggaa gtataggacg
     1201 ttgcttattt taaaacaagg gaaggacaca aaatggaatg actgcttagt cctttctcag
     1261 atactcttaa aacaattttt tattgttaaa tttgtggtaa tacatggtca caaccgtgga
     1321 tcaaacaagg tcagtctaaa gtggcaggtc ctaggtgtga cctgatacca ccaccctttg
     1381 tggcagcacc gggctggact gccctgatcc ctgggacgtg agacttagct tccagccagt
     1441 gtgaatcatt gtatctgtct cataatcaca gcacagctgc agacacaaca acgtgcagca
     1501 ttttttacat aaaaatatgg tagaattaat ttatgacatg gaaatgcctt acgtggtatc
     1561 acacttagtc ttgaaaaaaa caccaaggtg acgtttaaaa tttttagtac atatcctcaa
     1621 attggagcta agttatactt cttttataac cttttgggca tctggtcgag agaagacaag
     1681 attttctcta tttacagtga ggcaataaat atgtttgcca ccttt
//
