LOCUS       NM_005098               1956 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens musculin (MSC), mRNA.
ACCESSION   NM_005098
VERSION     NM_005098.4
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 1956)
  AUTHORS   Yan,J., Yu,J., Liu,K., Liu,Y., Mao,C. and Gao,W.
  TITLE     The Pathogenic Roles of IL-22 in Colitis: Its Transcription
            Regulation by Musculin in T Helper Subsets and Innate Lymphoid
            Cells
  JOURNAL   Front Immunol 12, 758730 (2021)
   PUBMED   34992594
  REMARK    GeneRIF: The Pathogenic Roles of IL-22 in Colitis: Its
            Transcription Regulation by Musculin in T Helper Subsets and Innate
            Lymphoid Cells.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1956)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1956)
  AUTHORS   Fang,W.L., Chen,M.H., Huang,K.H., Chang,S.C., Lin,C.H., Chao,Y.,
            Lo,S.S., Li,A.F., Wu,C.W. and Shyr,Y.M.
  TITLE     Analysis of the clinical significance of DNA methylation in gastric
            cancer based on a genome-wide high-resolution array
  JOURNAL   Clin Epigenetics 11 (1), 154 (2019)
   PUBMED   31675985
  REMARK    GeneRIF: Results found that MSC hypermethylation was more common in
            non-superficial type gastric cancer (GC) than those without MSC
            hypermethylation.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1956)
  AUTHORS   Luchtel,R.A., Zimmermann,M.T., Hu,G., Dasari,S., Jiang,M.,
            Oishi,N., Jacobs,H.K., Zeng,Y., Hundal,T., Rech,K.L.,
            Ketterling,R.P., Lee,J.H., Eckloff,B.W., Yan,H., Gaonkar,K.S.,
            Tian,S., Ye,Z., Kadin,M.E., Sidhu,J., Jiang,L., Voss,J., Link,B.K.,
            Syrbu,S.I., Facchetti,F., Bennani,N.N., Slager,S.L., Ordog,T.,
            Kocher,J.P., Cerhan,J.R., Ansell,S.M. and Feldman,A.L.
  TITLE     Recurrent MSCE116K mutations in ALK-negative anaplastic large cell
            lymphoma
  JOURNAL   Blood 133 (26), 2776-2789 (2019)
   PUBMED   31101622
  REMARK    GeneRIF: These findings identify a novel recurrent MSC mutation as
            a key driver of the CD30-IRF4-MYC axis and cell cycle progression
            in a unique subset of anaplastic large cell lymphomas
REFERENCE   5  (bases 1 to 1956)
  AUTHORS   Santarlasci,V., Mazzoni,A., Capone,M., Rossi,M.C., Maggi,L.,
            Montaini,G., Rossettini,B., Cimaz,R., Ramazzotti,M., Barra,G., De
            Palma,R., Maggi,E., Liotta,F., Cosmi,L., Romagnani,S. and
            Annunziato,F.
  TITLE     Musculin inhibits human T-helper 17 cell response to interleukin 2
            by controlling STAT5B activity
  JOURNAL   Eur J Immunol 47 (9), 1427-1442 (2017)
   PUBMED   28612433
  REMARK    GeneRIF: this study shows that musculin inhibits human T-helper 17
            cell response to interleukin 2 by controlling STAT5B activity
REFERENCE   6  (bases 1 to 1956)
  AUTHORS   Knight,J.C., Keating,B.J. and Kwiatkowski,D.P.
  TITLE     Allele-specific repression of lymphotoxin-alpha by activated B cell
            factor-1
  JOURNAL   Nat Genet 36 (4), 394-399 (2004)
   PUBMED   15052269
  REMARK    GeneRIF: role in repressing lymphotoxin alpha
REFERENCE   7  (bases 1 to 1956)
  AUTHORS   Wong,J., Funes-Duran,M., Ahlberg,J., Round,J., O'Connell,R.,
            Miller,R., Chen,E., Richmond,P.A. and Vierra,C.A.
  TITLE     Characterization of a basic helix-loop-helix protein, ABF-1:
            nuclear localization, transcriptional properties, and interaction
            with Id-2
  JOURNAL   DNA Cell Biol 20 (8), 465-471 (2001)
   PUBMED   11560778
REFERENCE   8  (bases 1 to 1956)
  AUTHORS   Robb,L., Brodnicki,T., Copeland,N.G., Gilbert,D.J., Jenkins,N.A.
            and Harvey,R.P.
  TITLE     Assignment of the human helix-loop-helix transcription factor gene
            musculin/activated B-cell factor-1 (MSC) to chromosome 8q21 and its
            mouse homologue (Msc) to the proximal region of chromosome 1
  JOURNAL   Genomics 57 (2), 318-319 (1999)
   PUBMED   10198176
REFERENCE   9  (bases 1 to 1956)
  AUTHORS   Robb,L., Hartley,L., Wang,C.C., Harvey,R.P. and Begley,C.G.
  TITLE     musculin: a murine basic helix-loop-helix transcription factor gene
            expressed in embryonic skeletal muscle
  JOURNAL   Mech Dev 76 (1-2), 197-201 (1998)
   PUBMED   9767165
REFERENCE   10 (bases 1 to 1956)
  AUTHORS   Massari,M.E., Rivera,R.R., Voland,J.R., Quong,M.W., Breit,T.M., van
            Dongen,J.J., de Smit,O. and Murre,C.
  TITLE     Characterization of ABF-1, a novel basic helix-loop-helix
            transcription factor expressed in activated B lymphocytes
  JOURNAL   Mol Cell Biol 18 (6), 3130-3139 (1998)
   PUBMED   9584154
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC104012.11.
            
            On Jun 26, 2020 this sequence version replaced NM_005098.3.
            
            Summary: The protein encoded by this gene is a transcriptional
            repressor capable of binding an E-box element either as a homodimer
            or as a heterodimer with E2A in vitro. The encoded protein also
            forms heterodimers with E2A proteins in vivo. This protein is
            capable of inhibiting the transactivation capability of E47, an E2A
            protein, in mammalian cells. This gene is a downstream target of
            the B-cell receptor signal transduction pathway. [provided by
            RefSeq, Jul 2008].
            
            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 :: BC006313.2, AF087036.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000325509.5/ ENSP00000321445.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-768               AC104012.11        122568-123335       c
            769-1956            AC104012.11        120483-121670       c
FEATURES             Location/Qualifiers
     source          1..1956
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q13.3"
     gene            1..1956
                     /gene="MSC"
                     /gene_synonym="ABF-1; ABF1; bHLHa22; MYOR"
                     /note="musculin"
                     /db_xref="GeneID:9242"
                     /db_xref="HGNC:HGNC:7321"
                     /db_xref="MIM:603628"
     exon            1..768
                     /gene="MSC"
                     /gene_synonym="ABF-1; ABF1; bHLHa22; MYOR"
                     /inference="alignment:Splign:2.1.0"
     CDS             235..855
                     /gene="MSC"
                     /gene_synonym="ABF-1; ABF1; bHLHa22; MYOR"
                     /note="activated B-cell factor 1, homolog of mouse
                     musculin; activated B-cell factor-1; class A basic
                     helix-loop-helix protein 22"
                     /codon_start=1
                     /product="musculin"
                     /protein_id="NP_005089.2"
                     /db_xref="CCDS:CCDS43746.1"
                     /db_xref="GeneID:9242"
                     /db_xref="HGNC:HGNC:7321"
                     /db_xref="MIM:603628"
                     /translation="MSTGSVSDPEEMELRGLQREYPVPASKRPPLRGVERSYASPSDN
                     SSAEEEDPDGEEERCALGTAGSAEGCKRKRPRVAGGGGAGGSAGGGGKKPLPAKGSAA
                     ECKQSQRNAANARERARMRVLSKAFSRLKTSLPWVPPDTKLSKLDTLRLASSYIAHLR
                     QLLQEDRYENGYVHPVNLTWPFVVSGRPDSDTKEVSAANRLCGTTA"
     exon            769..1956
                     /gene="MSC"
                     /gene_synonym="ABF-1; ABF1; bHLHa22; MYOR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1932..1937
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MSC"
                     /gene_synonym="ABF-1; ABF1; bHLHa22; MYOR"
                     /note="hexamer: AATAAA"
     polyA_site      1956
                     /gene="MSC"
                     /gene_synonym="ABF-1; ABF1; bHLHa22; MYOR"
                     /note="major polyA site"
ORIGIN      
        1 gcggattctg gacttgggcg ccaactcgta gtccacgctc cccggggtca gcagaggggc
       61 gctcacgctc tcgccaccca cctcgctttc tcaccccgcg cttcccggcc tgggttttta
      121 gtcttccttg gagcgctctc tggcctccgc ctccgccagg gagcggaagg cggagacagc
      181 gagactggcc aggggggagg aaagaggacg cgtgtgggca agggggacaa cgggatgtcc
      241 acgggctcgg tgagtgatcc ggaggagatg gagcttcggg ggctgcagcg ggagtacccg
      301 gtccccgcct ccaagaggcc gcccctccgc ggcgtagagc gcagctacgc ctcgcccagt
      361 gacaactcgt cggcagagga ggaggacccc gacggcgagg aggagcgctg cgctctgggc
      421 acagccggca gcgcggaagg ctgcaagagg aagcggcccc gtgtggctgg gggcggcggc
      481 gcaggtggta gcgcgggcgg tggtggcaag aagcccctcc cggccaaggg ctcagccgca
      541 gagtgcaagc agtcgcagcg gaacgcggcc aacgcccgtg agcgtgcccg gatgcgcgtg
      601 ctgagcaaag ccttctccag gctcaagacc agcctgccct gggtgccccc cgacactaag
      661 ctctccaagc tggacacgct ccggctggct tccagttaca tcgctcacct gcggcagctg
      721 ttgcaggagg accgctatga gaacggctac gtgcacccag tgaacctgac atggccattc
      781 gtggtctcgg gaagaccgga ctctgacacc aaagaagttt ccgcagccaa cagactatgt
      841 ggaaccaccg cttaaatcgg actggaactc acttgatggg attattcgtt aaatgcgagt
      901 gtttgggggc cacggagaga agggagagct cgtgagatgg gaagaagttt ccgctggatt
      961 ctccttgacc cttccccttt ccctggaact gtgatcgtga caggtggcgg gtgtggctgt
     1021 cactgcacag cgcccacggc tacagctgcg ccggatctgg gcgaccacgt tttgcctctc
     1081 caaaaagagc ttcctttcgt gacgagacgc ggacgcaggt ccaccctcgg gccctagctc
     1141 tgtagactaa ctctcggctg ctgccccagc ccgcgccaga cagcccacgg atccgttctc
     1201 agcggagcca gattcatcgc acacgtgcgg gacggttcca cacagccccg gcctttcgcg
     1261 gtgacacaat ggttagggaa cggttagaac gcgctctaca tccgctttaa agacagaggt
     1321 ctagacgtga gatccgcgtc gggacagggt tttaagtgac aaagaagggc gagtggcttc
     1381 tctgggccgg gttcgtactc cagcacagcg cccttctaac gggcgggagg aaggccgctg
     1441 ctcgcagggc taggtggaga cacacttccc agatcaccgc aggcgggttt tacccggaga
     1501 gctctgggcc gttcggcctc cctgccgggt ggcttcttca atcccgtctc cttcccaagc
     1561 tcccggcttt ttctaatcag gcaggcgtct gtcaaccctc tccacttctg ggctgaagcc
     1621 tccccaagcc ccgctgcgcc aacctgtgtg gggtcttctt cgggcctccc tctccgcccc
     1681 gctcctgctc ctacctgcag cacccccagc tccgactcca gactctctgc atcaggtctc
     1741 cccactccac gctccgggcg ccccaactcc aacaccacgt cctgccgcgc aggttcttcc
     1801 ccgcgcggag gagcgcgcag ggtgggcggc ttaccatagc aagtgatcct gcgataggga
     1861 acgcgccctt gccccgaggc tgcactacca caggaaataa catatgtaaa taaatttatt
     1921 tttttatgaa taataaaacg cgctgtaaaa accgtg
//
