LOCUS       NM_021038               5516 bp    mRNA    linear   PRI 17-NOV-2024
DEFINITION  Homo sapiens muscleblind like splicing regulator 1 (MBNL1),
            transcript variant 1, mRNA.
ACCESSION   NM_021038
VERSION     NM_021038.5
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 5516)
  AUTHORS   Aoki,Y., Yanaizu,M., Ohki,A., Nishimiya,K. and Kino,Y.
  TITLE     CUG repeat RNA-dependent proteasomal degradation of MBNL1 in a
            cellular model of myotonic dystrophy type 1
  JOURNAL   Biochem Biophys Res Commun 733, 150729 (2024)
   PUBMED   39326259
  REMARK    GeneRIF: CUG repeat RNA-dependent proteasomal degradation of MBNL1
            in a cellular model of myotonic dystrophy type 1.
REFERENCE   2  (bases 1 to 5516)
  AUTHORS   Piasecka,A., Szczesniak,M.W., Sekrecki,M., Kajdasz,A.,
            Sznajder,L.J., Baud,A. and Sobczak,K.
  TITLE     MBNL splicing factors regulate the microtranscriptome of skeletal
            muscles
  JOURNAL   Nucleic Acids Res 52 (19), 12055-12073 (2024)
   PUBMED   39258536
  REMARK    GeneRIF: MBNL splicing factors regulate the microtranscriptome of
            skeletal muscles.
REFERENCE   3  (bases 1 to 5516)
  AUTHORS   Wang,H.F., Zhou,X.F., Zhang,Q.M., Wu,J.Q., Hou,J.H., Xu,X.L.,
            Li,X.M. and Liu,Y.L.
  TITLE     Involvement of circRNA Regulators MBNL1 and QKI in the Progression
            of Esophageal Squamous Cell Carcinoma
  JOURNAL   Cancer Control 31, 10732748241257142 (2024)
   PUBMED   38769028
  REMARK    GeneRIF: Involvement of circRNA Regulators MBNL1 and QKI in the
            Progression of Esophageal Squamous Cell Carcinoma.
REFERENCE   4  (bases 1 to 5516)
  AUTHORS   Yang,Y., Lee,G.C., Nakagaki-Silva,E., Huang,Y., Peacey,M.,
            Partridge,R., Gooding,C. and Smith,C.W.J.
  TITLE     Cell-type specific regulator RBPMS switches alternative splicing
            via higher-order oligomerization and heterotypic interactions with
            other splicing regulators
  JOURNAL   Nucleic Acids Res 51 (18), 9961-9982 (2023)
   PUBMED   37548402
REFERENCE   5  (bases 1 to 5516)
  AUTHORS   Tahraoui-Bories,J., Merien,A., Gonzalez-Barriga,A., Laine,J.,
            Leteur,C., Polveche,H., Carteron,A., De Lamotte,J.D., Nicoleau,C.,
            Polentes,J., Jarrige,M., Gomes-Pereira,M., Ventre,E., Poydenot,P.,
            Furling,D., Schaeffer,L., Legay,C. and Martinat,C.
  TITLE     MBNL-dependent impaired development within the neuromuscular system
            in myotonic dystrophy type 1
  JOURNAL   Neuropathol Appl Neurobiol 49 (1), e12876 (2023)
   PUBMED   36575942
  REMARK    GeneRIF: MBNL-dependent impaired development within the
            neuromuscular system in myotonic dystrophy type 1.
REFERENCE   6  (bases 1 to 5516)
  AUTHORS   Kino,Y., Mori,D., Oma,Y., Takeshita,Y., Sasagawa,N. and Ishiura,S.
  TITLE     Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats
  JOURNAL   Hum Mol Genet 13 (5), 495-507 (2004)
   PUBMED   14722159
REFERENCE   7  (bases 1 to 5516)
  AUTHORS   Fardaei,M., Rogers,M.T., Thorpe,H.M., Larkin,K., Hamshere,M.G.,
            Harper,P.S. and Brook,J.D.
  TITLE     Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with
            nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells
  JOURNAL   Hum Mol Genet 11 (7), 805-814 (2002)
   PUBMED   11929853
REFERENCE   8  (bases 1 to 5516)
  AUTHORS   Mankodi,A., Urbinati,C.R., Yuan,Q.P., Moxley,R.T., Sansone,V.,
            Krym,M., Henderson,D., Schalling,M., Swanson,M.S. and Thornton,C.A.
  TITLE     Muscleblind localizes to nuclear foci of aberrant RNA in myotonic
            dystrophy types 1 and 2
  JOURNAL   Hum Mol Genet 10 (19), 2165-2170 (2001)
   PUBMED   11590133
REFERENCE   9  (bases 1 to 5516)
  AUTHORS   Fardaei,M., Larkin,K., Brook,J.D. and Hamshere,M.G.
  TITLE     In vivo co-localisation of MBNL protein with DMPK expanded-repeat
            transcripts
  JOURNAL   Nucleic Acids Res 29 (13), 2766-2771 (2001)
   PUBMED   11433021
REFERENCE   10 (bases 1 to 5516)
  AUTHORS   Miller,J.W., Urbinati,C.R., Teng-Umnuay,P., Stenberg,M.G.,
            Byrne,B.J., Thornton,C.A. and Swanson,M.S.
  TITLE     Recruitment of human muscleblind proteins to (CUG)(n) expansions
            associated with myotonic dystrophy
  JOURNAL   EMBO J 19 (17), 4439-4448 (2000)
   PUBMED   10970838
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AB007888.1, BC043493.1 and
            Y13829.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_021038.4.
            
            Summary: This gene encodes a member of the muscleblind protein
            family which was initially described in Drosophila melanogaster.
            The encoded protein is a C3H-type zinc finger protein that
            modulates alternative splicing of pre-mRNAs. Muscleblind proteins
            bind specifically to expanded dsCUG RNA but not to normal size CUG
            repeats and may thereby play a role in the pathophysiology of
            myotonic dystrophy. Mice lacking this gene exhibited muscle
            abnormalities and cataracts. Several alternatively spliced
            transcript variants have been described but the full-length natures
            of only some have been determined. The different isoforms are
            thought to have different binding specificities and/or splicing
            activities. [provided by RefSeq, Sep 2015].
            
            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 :: SRR1803615.238381.1,
                                           SRR1660807.200297.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000324210.10/ ENSP00000319429.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-34                AB007888.1         462-495
            35-2878             BC043493.1         1-2844
            2879-5515           AB007888.1         3304-5940
            5516-5516           Y13829.1           5091-5091
FEATURES             Location/Qualifiers
     source          1..5516
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q25.1-q25.2"
     gene            1..5516
                     /gene="MBNL1"
                     /gene_synonym="EXP; MBNL"
                     /note="muscleblind like splicing regulator 1"
                     /db_xref="GeneID:4154"
                     /db_xref="HGNC:HGNC:6923"
                     /db_xref="MIM:606516"
     exon            1..164
                     /gene="MBNL1"
                     /gene_synonym="EXP; MBNL"
                     /inference="alignment:Splign:2.1.0"
     exon            165..1127
                     /gene="MBNL1"
                     /gene_synonym="EXP; MBNL"
                     /inference="alignment:Splign:2.1.0"
     CDS             954..2102
                     /gene="MBNL1"
                     /gene_synonym="EXP; MBNL"
                     /note="isoform 1 is encoded by transcript variant 1;
                     triplet-expansion RNA-binding protein; muscleblind-like"
                     /codon_start=1
                     /product="muscleblind-like protein 1 isoform 1"
                     /protein_id="NP_066368.2"
                     /db_xref="CCDS:CCDS3163.1"
                     /db_xref="GeneID:4154"
                     /db_xref="HGNC:HGNC:6923"
                     /db_xref="MIM:606516"
                     /translation="MAVSVTPIRDTKWLTLEVCREFQRGTCSRPDTECKFAHPSKSCQ
                     VENGRVIACFDSLKGRCSRENCKYLHPPPHLKTQLEINGRNNLIQQKNMAMLAQQMQL
                     ANAMMPGAPLQPVPMFSVAPSLATNASAAAFNPYLGPVSPSLVPAEILPTAPMLVTGN
                     PGVPVPAAAAAAAQKLMRTDRLEVCREYQRGNCNRGENDCRFAHPADSTMIDTNDNTV
                     TVCMDYIKGRCSREKCKYFHPPAHLQAKIKAAQYQVNQAAAAQAAATAAAMGIPQAVL
                     PPLPKRPALEKTNGATAVFNTGIFQYQQALANMQLQQHTAFLPPGSILCMTPATSVVP
                     MVHGATPATVSAATTSATSVPFAATATANQIPIISAEHLTSHKYVTQM"
     exon            1128..1298
                     /gene="MBNL1"
                     /gene_synonym="EXP; MBNL"
                     /inference="alignment:Splign:2.1.0"
     exon            1299..1502
                     /gene="MBNL1"
                     /gene_synonym="EXP; MBNL"
                     /inference="alignment:Splign:2.1.0"
     exon            1503..1760
                     /gene="MBNL1"
                     /gene_synonym="EXP; MBNL"
                     /inference="alignment:Splign:2.1.0"
     exon            1761..1914
                     /gene="MBNL1"
                     /gene_synonym="EXP; MBNL"
                     /inference="alignment:Splign:2.1.0"
     exon            1915..1950
                     /gene="MBNL1"
                     /gene_synonym="EXP; MBNL"
                     /inference="alignment:Splign:2.1.0"
     exon            1951..2045
                     /gene="MBNL1"
                     /gene_synonym="EXP; MBNL"
                     /inference="alignment:Splign:2.1.0"
     exon            2046..2120
                     /gene="MBNL1"
                     /gene_synonym="EXP; MBNL"
                     /inference="alignment:Splign:2.1.0"
     exon            2121..5516
                     /gene="MBNL1"
                     /gene_synonym="EXP; MBNL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5493..5498
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MBNL1"
                     /gene_synonym="EXP; MBNL"
                     /note="hexamer: AATAAA"
     polyA_site      5516
                     /gene="MBNL1"
                     /gene_synonym="EXP; MBNL"
                     /note="major polyA site"
ORIGIN      
        1 agtcttttca ctgcagctga atgagttgtg gcgcccacaa tgctcccatg acaaggagct
       61 gacaagttcc attttccgtc gcgggcatct tggaatcatg actcccacaa tgccttgggc
      121 acttggtcga cagtggggcc gcctctgaaa aaaaaatgtg agaggttggt actaagaagt
      181 gcctttcctg acgtctctgc tgcttggaac cgcttctaga gcagtctctg cttttgcctt
      241 gcttgctgcc agctagactg tgacgacagc acatccaccc tccacctcta gcccagacac
      301 ccccatttct acttataatc aagagaaaag ctctaagtat ctggcattgc cctaggctgc
      361 tttagtgtta aaagaaaagt ttgctgaaaa agtaagatat cttctgccag gaaatcaagg
      421 aggaaaaaaa aaatcatttt ctcgattttg ctctaaactg ctgcatctgt ctatgccaaa
      481 ctaatcaata ccgattgcac caccaaactc cattgcaaat tcagctgtga ggagattccc
      541 tttcagacaa ctttgctgaa agcagcttgg aaattcggtg tcgaagggtc tgccacgttt
      601 tcatgcttgc attttgggct ccaaattggc actgggaagg ggttactgag agcacaaggc
      661 tgataccagg ccctactttt aaacgttcat ctacttacaa tcctagtatt tctctaaaaa
      721 ccaaaacctc tttgaattaa cagtttcatg ctgtgaattt ctagtgggag atcttttcct
      781 tgatattgac gacacaattt tccatgtact tttaaagcag ggagtgggga aaagtatttt
      841 gaggggacat tttcatcatc agttcagctt tttttttttg gttgttgctc ttttttgggg
      901 gggttgggtt tgttggtttc actgaaacat ttaactacct gtaaaatcta aacatggctg
      961 ttagtgtcac accaattcgg gacacaaaat ggctaacact ggaagtatgt agagagttcc
     1021 agagggggac ttgctcacgg ccagacacgg aatgtaaatt tgcacatcct tcgaaaagct
     1081 gccaagttga aaatggacga gtaatcgcct gctttgattc attgaaaggc cgttgctcca
     1141 gggagaactg caaatatctt catccacccc cacatttaaa aacgcagttg gagataaatg
     1201 gacgcaataa cttgattcag cagaagaaca tggccatgtt ggcccagcaa atgcaactag
     1261 ccaatgccat gatgcctggt gccccattac aacccgtgcc aatgttttca gttgcaccaa
     1321 gcttagccac caatgcatca gcagccgcct ttaatcccta tctgggacct gtttctccaa
     1381 gcctggtccc ggcagagatc ttgccgactg caccaatgtt ggttacaggg aatccgggtg
     1441 tccctgtacc tgcagctgct gcagctgctg cacagaaatt aatgcgaaca gacagacttg
     1501 aggtatgtcg agagtaccaa cgtggcaatt gcaaccgagg agaaaatgat tgtcggtttg
     1561 ctcatcctgc tgacagcaca atgattgaca ccaatgacaa cacagtcact gtgtgtatgg
     1621 attacatcaa agggagatgc tctcgggaaa agtgcaaata ctttcatccc cctgcacatt
     1681 tgcaagccaa gatcaaggct gcccaatacc aggtcaacca ggctgcagct gcacaggctg
     1741 cagccaccgc agctgccatg ggaattcctc aagctgtact tcccccatta ccaaagaggc
     1801 ctgctcttga aaaaaccaac ggtgccaccg cagtctttaa cactggtatt ttccaatacc
     1861 aacaggctct agccaacatg cagttacaac agcatacagc atttctccca ccaggctcaa
     1921 tattgtgcat gacacccgct acaagtgttg ttcccatggt gcacggtgct acgccagcca
     1981 ctgtgtccgc agcaacaaca tctgccacaa gtgttccctt cgctgcaaca gccacagcca
     2041 accagatacc cataatatct gccgaacatc tgactagcca caagtatgtt acccagatgt
     2101 agaattttca tcactaaaca atcatgctaa agaggaaagg acagtgtgct tggttagagt
     2161 aaaggacgag gtcattagcc atattgtata tatcgtcaag caacacacac aaaagttcct
     2221 cagccacaag acatccacat attgcatgtt aaccagaaga aaagacaaca ttttccggaa
     2281 atccactgca cactgttgcc tatacacttt gtacatttaa ttgatatttg tgctgaggtg
     2341 atattcctgt ctaaaagaac aacattgtct ttcttttcta gcacagagtt atgcattcaa
     2401 agatgcatac ctagttagtt tcctatatat tcatgccatc ttgaaaagac agactatggt
     2461 gtaaccatga ttctattatg tattggtacg tctgtagacc aagatataat tttttaaaaa
     2521 taagtttatt tctttcaagg tttacaaata acaaaggtgc accttgtatt taaaattgcc
     2581 attatagatg agagcgtgca tgcacagtca tttttgttta agagtaatat ttttaatgta
     2641 atagattgta agacgtggtg agggagggat ctgacagaga tgaatgtgcc aagcaaaacc
     2701 acaactgtgt atattttaaa gcacatcatg gctttaagta ccatgttgtt aaggattctc
     2761 atgaagtgcc atagactgta catcaaatta gagtattatt tcttcagtgt tattgttttc
     2821 agagccacat tttgttgcat atttgctagt actaatcagt caaagggcac cattcttttt
     2881 tttttttttt gaaaccaaag ctgtctcaga aatggccaat ttaactttac agtaacaata
     2941 gacagcacaa cacaaactct ctcaatacag ataaactcac acatactgga gatatatata
     3001 taatagatat atataaaatt attttaatgc attgtagtgt aatatttatg catactatac
     3061 tgtataacat gttattcaaa agggattgcc atttctgaga cacagtaaca aaaaaatgag
     3121 gaaattattt tgcttctatt tatagcctct gtcaaaagtc aaaagactat aaatgctttg
     3181 caaaaatggt ttcacgtttg cttaaatgct tcatcacagt cacattcaaa atagtgactc
     3241 taaacaaaga agaaagcagc actgtcatca gatgcatgat aaaccaaaat atgaaaatgg
     3301 gaaatgttta attaacctag taattgggtg ggttaagtac atgggtgaat tttatatgtg
     3361 atttttgttt tgttttgttt tgttcagatt aactgcttat agccttagaa agccttttac
     3421 aaaattaaaa aaaaaataga tgtgcattca gtttttaaga atggaatcat ccaaaggaat
     3481 tccttttttt gaggtttgga tgttgcagct agtaaaggat atttttgctc tgttcagcag
     3541 ttctaaaaat tgctgaagta ggggccaggt cactggtagt tatagtatgg aatgggagaa
     3601 gtgaaagttc agttatagaa ctttccatac ttccaagttt actgcaagtt tttatgcttg
     3661 agagagatgc tttctaatat aagactgatg tgttgatttt actgattgta ctgtacatct
     3721 attaaagcct tagattatta cattacgggt tggaacccat accaatgtaa tttcaatcgt
     3781 gttaagaaag taatggtgac ttcacatgtt attgtagtta gttacattat agaatattac
     3841 ttatttttct tgttaaaatg tagtttttca tttcctacat ttattagatt ttcattttct
     3901 attaacaatt gaataccatt tcagtttata gacttgtttt attagatttt accaatgaat
     3961 ttttcaaaat acaaaaaaaa gtagtttttc cttcataaca tactcagttt tgaattacat
     4021 gtagtgtcac atgaatattc gtattgttaa ctaaatgatt tatattttac tgatttaata
     4081 ttacagtgta agaatgtcag tcattgttag ttcttgtcta gttttcatta aaagaacaaa
     4141 gatcttttat atggatatct tataaatata taatcattgc taagtaagaa gttaagttgt
     4201 tgctatcgca acaatcctgg cagacaattg agtaatattt tgatgattta ttttgtttgt
     4261 aattagttat tataagaaga tctagatcct agatattaga ataaaattta ttttctactg
     4321 tatccatttc aaatgttaaa atattgttta atatttttga aatccctgag tatcaggcct
     4381 tgttataaat aagctgcata atcaataaat agaacaaggg actttttgtt gataatccaa
     4441 atactcaaag tttacgtaat gaaaattata gcgtgtgtgc aaactcttga gggttgatta
     4501 tgctgcaatt tagcatgttg gaacgtctag ggagaaggtt gactttttgc acttctgtat
     4561 atagtcaaaa gagagaaacc tgtataatag taagatctta ttttgaataa aaacgtctat
     4621 aattacaagg agttttgtta aggctaatac aatgacagac tgagcaaaat tgcttgcaaa
     4681 agtggcacag agttagcact ccatacccct tcaaacatgt tgctttgctt tcttgtggac
     4741 agcttgtagt ttgccaggat tttttcagct ggaaagatac gccatccttt caaaccctca
     4801 tgactgacaa aaactccatg gggccaaatc tgcctgaaga tcattaccaa aaatagcagg
     4861 tacttctacc attaaggtga aatcatggat cagatattcc ttacattttt caaaactact
     4921 gcatgtttaa aacttcaaca aaaaaagaga gaaagaacta tactaagaac atatattatt
     4981 cagatcagtt tctgccaatt tcagtggttt attgttcaca aaaaaatctt caaaacaagt
     5041 attgactttc acaaaattta aatcataaac aggcaaacca aacagcacac tgtagctata
     5101 gttgttatgt gattgttttt taattgctgt aggatcctgt tctttcagca ggtgaaaaat
     5161 aaaacgcagt tcaaatttca tggttttaat tttcaactca gaagcactca aaaatgcaaa
     5221 atgtgataat gggcacttgt ttaaaagaat tagtgtatcc agccttcact ccagctggtt
     5281 aaaaatgttg cacttatcag caaccctacc actttcatct gctgaaagga caaatgtgct
     5341 tggttttact attatgtaat cacaacttac tttctgcttg tagttgctta aaattatgta
     5401 ttttgtcttg ggctgcaatt tgttttatgc ttattttatt attactgcag tagttgactt
     5461 tgctgtatgg aaaaataaag tgaaattgcc ctaataaaac ttctctttct taagta
//
