LOCUS       NM_001085347            1500 bp    mRNA    linear   PRI 06-AUG-2024
DEFINITION  Homo sapiens torsin family 2 member A (TOR2A), transcript variant
            1, mRNA.
ACCESSION   NM_001085347
VERSION     NM_001085347.3
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 1500)
  AUTHORS   Pan,J., Yang,C., Xu,A., Zhang,H., Fan,Y., Zeng,R., Chen,L., Liu,X.
            and Wang,Y.
  TITLE     Salusin-alpha alleviates lipid metabolism disorders via regulation
            of the downstream lipogenesis genes through the LKB1/AMPK pathway
  JOURNAL   Int J Mol Med 54 (3) (2024)
   PUBMED   38963051
  REMARK    GeneRIF: Salusin-alpha alleviates lipid metabolism disorders via
            regulation of the downstream lipogenesis genes through the
            LKB1/AMPK pathway.
REFERENCE   2  (bases 1 to 1500)
  AUTHORS   Xu,A., Wang,L., Luo,M., Zhang,H., Ning,M., Pan,J., Duan,X., Wang,Y.
            and Liu,X.
  TITLE     Overexpression of salusin-beta downregulates adipoR1 expression to
            prevent fatty acid oxidation in HepG2 cells
  JOURNAL   Mol Med Rep 29 (2) (2024)
   PUBMED   38063230
  REMARK    GeneRIF: Overexpression of salusin-beta downregulates adipoR1
            expression to prevent fatty acid oxidation in HepG2 cells.
REFERENCE   3  (bases 1 to 1500)
  AUTHORS   Janecka,A. and Stefanowicz,J.
  TITLE     Use of salusin beta for predicting atherosclerosis and components
            of the metabolic syndrome
  JOURNAL   Adv Clin Exp Med 33 (2), 183-192 (2024)
   PUBMED   37386856
  REMARK    GeneRIF: Use of salusin beta for predicting atherosclerosis and
            components of the metabolic syndrome.
            Review article
REFERENCE   4  (bases 1 to 1500)
  AUTHORS   Saeirad,S. and LeDoux,M.S.
  TITLE     TOR2A Variants in Blepharospasm
  JOURNAL   Tremor Other Hyperkinet Mov (N Y) 13, 44 (2023)
   PUBMED   38076033
  REMARK    GeneRIF: TOR2A Variants in Blepharospasm.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1500)
  AUTHORS   Kimura,M., Shindo,M., Moriizumi,T., Tagawa,N., Fujinami,A., Kato,I.
            and Uchida,Y.
  TITLE     Salusin-beta, an antimicrobially active peptide against
            Gram-positive bacteria
  JOURNAL   Chem Pharm Bull (Tokyo) 62 (6), 586-590 (2014)
   PUBMED   24881665
  REMARK    GeneRIF: Salusin-beta is an antimicrobial peptide with potent
            antibacterial activity against Gram-positive microorganisms.
REFERENCE   6  (bases 1 to 1500)
  AUTHORS   Wang,Z., Takahashi,T., Saito,Y., Nagasaki,H., Ly,N.K.,
            Nothacker,H.P., Reinscheid,R.K., Yang,J., Chang,J.K., Shichiri,M.
            and Civelli,O.
  TITLE     Salusin beta is a surrogate ligand of the mas-like G
            protein-coupled receptor MrgA1
  JOURNAL   Eur J Pharmacol 539 (3), 145-150 (2006)
   PUBMED   16697365
  REMARK    GeneRIF: Human salusin beta is a surrogate ligand of mouse MrgA1.
REFERENCE   7  (bases 1 to 1500)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   8  (bases 1 to 1500)
  AUTHORS   Shichiri,M., Ishimaru,S., Ota,T., Nishikawa,T., Isogai,T. and
            Hirata,Y.
  TITLE     Salusins: newly identified bioactive peptides with hemodynamic and
            mitogenic activities
  JOURNAL   Nat Med 9 (9), 1166-1172 (2003)
   PUBMED   12910263
  REMARK    GeneRIF: the identification and characterization of two related
            peptides of 28 and 20 amino acids, which we designated
            salusin-alpha and salusin-beta. Salusins are translated from an
            alternatively spliced mRNA of TOR2A
REFERENCE   9  (bases 1 to 1500)
  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 1500)
  AUTHORS   Ozelius,L.J., Hewett,J.W., Page,C.E., Bressman,S.B., Kramer,P.L.,
            Shalish,C., de Leon,D., Brin,M.F., Raymond,D., Corey,D.P., Fahn,S.,
            Risch,N.J., Buckler,A.J., Gusella,J.F. and Breakefield,X.O.
  TITLE     The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding
            protein
  JOURNAL   Nat Genet 17 (1), 40-48 (1997)
   PUBMED   9288096
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL162426.20.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001085347.2.
            
            Summary: This gene encodes a member of the AAA family of adenosine
            triphosphatases with similarity to Clp proteases and heat shock
            proteins. Alternative splicing at this locus results in the
            translation of multiple isoforms of the encoded protein, some of
            which contain salusin peptides in the C-terminal region. These
            peptides may play roles in hypotension, myocardial growth and the
            induction of mitogenesis, and may also be involved in the
            pathogenesis of atherosclerosis. The antimicrobial peptide
            salusin-beta has antibacterial activity. [provided by RefSeq, Nov
            2014].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            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 :: AY358180.1, SRR3476690.267751.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373284.10/ ENSP00000362381.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-175               AL162426.20        148433-148607       c
            176-441             AL162426.20        147612-147877       c
            442-617             AL162426.20        146698-146873       c
            618-745             AL162426.20        145877-146004       c
            746-1500            AL162426.20        144837-145591       c
FEATURES             Location/Qualifiers
     source          1..1500
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..1500
                     /gene="TOR2A"
                     /gene_synonym="TORP1"
                     /note="torsin family 2 member A"
                     /db_xref="GeneID:27433"
                     /db_xref="HGNC:HGNC:11996"
                     /db_xref="MIM:608052"
     exon            1..175
                     /gene="TOR2A"
                     /gene_synonym="TORP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             25..990
                     /gene="TOR2A"
                     /gene_synonym="TORP1"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; prosalusin; torsin-2A; torsin-related protein
                     1; salusin-beta"
                     /codon_start=1
                     /product="prosalusin isoform a precursor"
                     /protein_id="NP_001078816.2"
                     /db_xref="CCDS:CCDS43879.1"
                     /db_xref="GeneID:27433"
                     /db_xref="HGNC:HGNC:11996"
                     /db_xref="MIM:608052"
                     /translation="MAAATRGCRPWGSLLGLLGLVSAAAAAWDLASLRCTLGAFCECD
                     FRPDLPGLECDLAQHLAGQHLAKALVVKALKAFVRDPAPTKPLVLSLHGWTGTGKSYV
                     SSLLAHYLFQGGLRSPRVHHFSPVLHFPHPSHIERYKKDLKSWVQGNLTACGRSLFLF
                     DEMDKMPPGLMEVLRPFLGSSWVVYGTNYRKAIFIFISNTGGKQINQVALEAWRSRRD
                     REEILLQELEPVISRAVLDNPHHGFSNSGIMEERLLDAVVPFLPLQRHHVRHCVLNEL
                     AQLGLEPRDEVVQAVLDSTTFFPEDEQLFSSNGCKTVASRIAFFL"
     exon            176..441
                     /gene="TOR2A"
                     /gene_synonym="TORP1"
                     /inference="alignment:Splign:2.1.0"
     exon            442..617
                     /gene="TOR2A"
                     /gene_synonym="TORP1"
                     /inference="alignment:Splign:2.1.0"
     exon            618..745
                     /gene="TOR2A"
                     /gene_synonym="TORP1"
                     /inference="alignment:Splign:2.1.0"
     exon            746..1500
                     /gene="TOR2A"
                     /gene_synonym="TORP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1477..1482
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TOR2A"
                     /gene_synonym="TORP1"
                     /note="hexamer: AATAAA"
     polyA_site      1500
                     /gene="TOR2A"
                     /gene_synonym="TORP1"
                     /note="major polyA site"
ORIGIN      
        1 acaacgagct cgggcctcac ccggatggcg gctgcgacgc gcggctgccg gccctggggc
       61 tcgctcctcg ggctgctcgg gctggtctcg gccgcggccg ccgcctggga cctggcttcc
      121 ctgcgctgca ccttgggcgc cttttgcgaa tgcgacttcc ggcccgactt gccgggtctg
      181 gagtgtgacc tggctcagca cctggccggc cagcatctgg ccaaggcgct ggtggtgaag
      241 gcgctgaagg cctttgtgcg ggacccagcc cccaccaagc cgctggtcct ctccctgcac
      301 ggctggaccg gcaccggcaa atcctatgtc agctccctgc tggcgcacta cctcttccag
      361 ggcggcctcc gcagcccccg cgtgcaccac ttttctcccg tcctccactt cccccacccc
      421 agccacatcg agcgctacaa gaaggatctg aagagctggg tccaagggaa cctcactgcc
      481 tgtggccgct ccctcttcct cttcgatgag atggacaaga tgcccccagg cctgatggaa
      541 gtcctgcggc ctttcctggg ctcctcctgg gtggtatacg ggaccaatta ccgcaaagcc
      601 atcttcatct tcatcagcaa cacgggtggc aagcagatca accaggtggc attggaggcg
      661 tggcgcagcc ggcgggaccg cgaggagatc ctcctgcagg agctggagcc ggtcatctcc
      721 cgcgcggtgc tggacaaccc gcaccatggc ttctcaaact cgggcatcat ggaagagcgc
      781 ctcctagacg cagtggtgcc cttcctcccg ctccagcggc accacgtccg gcactgcgtg
      841 ctcaacgagc tggcccagct gggcctggag ccaagggatg aggttgtcca ggctgtgctg
      901 gacagcacca ccttcttccc tgaagacgag cagctcttct cctccaacgg ctgcaagacc
      961 gtggcctccc gaatcgcctt cttcctctga ctctctgagt ggtgtcctcg gcccccctga
     1021 tggccaggcc atgcaggaaa ggccaggggc ctctgtcaca ggaacccaga gcaccaagtg
     1081 agatgaacgg agtgtcggct aggccacggg acagatggcc aggaagggcc ctggcctcta
     1141 aactggctcg agagcatctt ggccccggcc accttcccca gggaaacccc tggtcacccc
     1201 agaacctcac tgagccttga cctccccctg cagcctgagc cttcttactg tgaattataa
     1261 ctcagggact gtggctcgtg gcggtgctcc ctcctcagtc tgccaccctt gccccttgcc
     1321 tccttggtcg ggcaccatac ctcctcccct ccaccccaca ccctgtgtcc atatcaagcc
     1381 aggtggagcc ttctcagttt ccagaaatgg agggactcaa gctgccactt gggcctggtt
     1441 ttagatgttt ttaattttgt aaaagaaaac aagtataata aactcagctg tgggaccaga
//
