LOCUS       NM_014506               2738 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens torsin family 1 member B (TOR1B), transcript variant
            1, mRNA.
ACCESSION   NM_014506 NM_032736
VERSION     NM_014506.3
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 2738)
  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 2738)
  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 2738)
  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 2738)
  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 2738)
  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 2738)
  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 2738)
  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 2738)
  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 2738)
  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 2738)
  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 Nov 23, 2018 this sequence version replaced NM_014506.2.
            
            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 (1) encodes the longest 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##
            Transcript exon combination :: AF317129.1, SRR1660807.25360.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000259339.7/ ENSP00000259339.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
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
            671-798             AL158207.15        9958-10085
            799-2738            AL158207.15        10395-12334
FEATURES             Location/Qualifiers
     source          1..2738
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..2738
                     /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..1040
                     /gene="TOR1B"
                     /gene_synonym="DQ1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; torsin-1B; torsin ATPase-1B; torsin B"
                     /codon_start=1
                     /product="torsin-1B isoform 1 precursor"
                     /protein_id="NP_055321.1"
                     /db_xref="CCDS:CCDS6929.1"
                     /db_xref="GeneID:27348"
                     /db_xref="HGNC:HGNC:11995"
                     /db_xref="MIM:608050"
                     /translation="MLRAGWLRGAAALALLLAARVVAAFEPITVGLAIGAASAITGYL
                     SYNDIYCRFAECCREERPLNASALKLDLEEKLFGQHLATEVIFKALTGFRNNKNPKKP
                     LTLSLHGWAGTGKNFVSQIVAENLHPKGLKSNFVHLFVSTLHFPHEQKIKLYQDQLQK
                     WIRGNVSACANSVFIFDEMDKLHPGIIDAIKPFLDYYEQVDGVSYRKAIFIFLSNAGG
                     DLITKTALDFWRAGRKREDIQLKDLEPVLSVGVFNNKHSGLWHSGLIDKNLIDYFIPF
                     LPLEYRHVKMCVRAEMRARGSAIDEDIVTRVAEEMTFFPRDEKIYSDKGCKTVQSRLD
                     FH"
     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..798
                     /gene="TOR1B"
                     /gene_synonym="DQ1"
                     /inference="alignment:Splign:2.1.0"
     exon            799..2738
                     /gene="TOR1B"
                     /gene_synonym="DQ1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2717..2722
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TOR1B"
                     /gene_synonym="DQ1"
                     /note="hexamer: AATAAA"
     polyA_site      2738
                     /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 caatgcaggc ggggacctta taactaagac ggctcttgac ttttggcggg
      721 ccggaagaaa gagggaagac attcagctga aggacctgga acctgtactg tctgtcggag
      781 tcttcaataa taaacacagt ggcctgtggc acagtggact gatcgacaaa aacctcattg
      841 attactttat ccccttcctg cctttggagt acagacatgt gaaaatgtgt gtgagggccg
      901 agatgagggc ccgtggttct gccatagatg aagacattgt cacaagagtg gcagaggaaa
      961 tgacgttttt ccccagagac gagaaaatct actcagacaa gggctgcaag actgtgcagt
     1021 cgcggctgga tttccactga gctcctatcc agatggggta ggagacagct gggaggctcc
     1081 gcacgccaga ggccttgcct ttcagaagaa ccctgaagac cgctttgggg ttttgcctgt
     1141 ttgcacctta gacttttggg tatagaatct tttttttgag aagaggtctc actccgtcat
     1201 ccaagctgga gtgcagtggt gcaatcctca actcactgca acctccgctc ccggtttgag
     1261 tgattctcat gcctcagcct cccgagtagc tgggattaca ggcatgagcc actgtgccca
     1321 gctgggatat agaatctaag agttgattgt ggaaaacacg tgaatctatt gcgcgcattt
     1381 gtcatttagc aagatggcag cagtccagct gttctttgca gctggagatg aacttttaaa
     1441 aatccccttc acacttaatg tactgaccga gacagaagta cctgaaaaca gctgtgcatg
     1501 gcaggcccgg caatagcttc tgacccacag cacccgcgcc tcagaagcta cggtcacaac
     1561 taaaggagtc cagggacttg ctgcaggctg gggggcactg ggtggttctc accagcaggc
     1621 tgcggggcac tgtgttctca ttggccaaaa acatcctttt gctctgtctc gttctttaca
     1681 cagagttcac tgacttgaag tatactcagt taaaatcggg gctggaggtg cagacggtgt
     1741 ctgaccggag gatgtggccg tgcccgccga gcactcttga tctgagctga cctgtgtgtg
     1801 tgtgtgtggg ggggtggggc cttcacctaa gacctctgca gcagacctgg acagacaggc
     1861 ccctcccgcc tgtccatcgc tctagctgct aatacagccc tggctgtgga atccttcacc
     1921 gtctcagctg gtatcagccc cagcctgcct tgtgccatat ctcagcttgg atctctgcta
     1981 gagtcccccc aaccatatat catagagttg aatcacaatg agaccgttgg ctttgaattt
     2041 gagtcgttgg ttcccatggt gagatgcttg ttaagacttt atacttgggt caatctctca
     2101 ctttattttg tagaaccatt tgaaatccta ggatgtgctt gttctggaag gatgacatgg
     2161 gcccagactg aacaagtcag cttgatgatc ttaaatgatg gaagtatagg acgttgctta
     2221 ttttaaaaca agggaaggac acaaaatgga atgactgctt agtcctttct cagatactct
     2281 taaaacaatt ttttattgtt aaatttgtgg taatacatgg tcacaaccgt ggatcaaaca
     2341 aggtcagtct aaagtggcag gtcctaggtg tgacctgata ccaccaccct ttgtggcagc
     2401 accgggctgg actgccctga tccctgggac gtgagactta gcttccagcc agtgtgaatc
     2461 attgtatctg tctcataatc acagcacagc tgcagacaca acaacgtgca gcatttttta
     2521 cataaaaata tggtagaatt aatttatgac atggaaatgc cttacgtggt atcacactta
     2581 gtcttgaaaa aaacaccaag gtgacgttta aaatttttag tacatatcct caaattggag
     2641 ctaagttata cttcttttat aaccttttgg gcatctggtc gagagaagac aagattttct
     2701 ctatttacag tgaggcaata aatatgtttg ccaccttt
//
