LOCUS       NM_020180               3820 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens CUGBP Elav-like family member 4 (CELF4), transcript
            variant 1, mRNA.
ACCESSION   NM_020180 XM_938173 XM_943559 XM_943564 XM_943566 XM_943568
            XM_943573
VERSION     NM_020180.4
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 3820)
  AUTHORS   Salamon,I., Park,Y., Miskic,T., Kopic,J., Matteson,P., Page,N.F.,
            Roque,A., McAuliffe,G.W., Favate,J., Garcia-Forn,M., Shah,P.,
            Judas,M., Millonig,J.H., Kostovic,I., De Rubeis,S., Hart,R.P.,
            Krsnik,Z. and Rasin,M.R.
  TITLE     Celf4 controls mRNA translation underlying synaptic development in
            the prenatal mammalian neocortex
  JOURNAL   Nat Commun 14 (1), 6025 (2023)
   PUBMED   37758766
  REMARK    GeneRIF: Celf4 controls mRNA translation underlying synaptic
            development in the prenatal mammalian neocortex.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3820)
  AUTHORS   Teerlink,C.C., Stevens,J., Hernandez,R., Facelli,J.C. and
            Cannon-Albright,L.A.
  TITLE     An intronic variant in the CELF4 gene is associated with risk for
            colorectal cancer
  JOURNAL   Cancer Epidemiol 72, 101941 (2021)
   PUBMED   33930674
  REMARK    GeneRIF: An intronic variant in the CELF4 gene is associated with
            risk for colorectal cancer.
REFERENCE   3  (bases 1 to 3820)
  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   4  (bases 1 to 3820)
  AUTHORS   Barone,R., Fichera,M., De Grandi,M., Battaglia,M., Lo Faro,V.,
            Mattina,T. and Rizzo,R.
  TITLE     Familial 18q12.2 deletion supports the role of RNA-binding protein
            CELF4 in autism spectrum disorders
  JOURNAL   Am J Med Genet A 173 (6), 1649-1655 (2017)
   PUBMED   28407444
  REMARK    GeneRIF: The present study refines the molecular and
            neuropsychiatric phenotype associated with 18q12.2 deletion leading
            to CELF4 haploinsufficiency and provides evidence for a role for
            CELF4 in brain development and autism spectrum disorders.
REFERENCE   5  (bases 1 to 3820)
  AUTHORS   Wang,X., Sun,C.L., Quinones-Lombrana,A., Singh,P., Landier,W.,
            Hageman,L., Mather,M., Rotter,J.I., Taylor,K.D., Chen,Y.D.,
            Armenian,S.H., Winick,N., Ginsberg,J.P., Neglia,J.P.,
            Oeffinger,K.C., Castellino,S.M., Dreyer,Z.E., Hudson,M.M.,
            Robison,L.L., Blanco,J.G. and Bhatia,S.
  TITLE     CELF4 Variant and Anthracycline-Related Cardiomyopathy: A
            Children's Oncology Group Genome-Wide Association Study
  JOURNAL   J Clin Oncol 34 (8), 863-870 (2016)
   PUBMED   26811534
  REMARK    GeneRIF: Authors report a modifying effect of a polymorphism of
            CELF4 on the dose-dependent association between anthracyclines and
            cardiomyopathy, which possibly occurs through a pathway that
            involves the expression of abnormally spliced TNNT2 variants.
REFERENCE   6  (bases 1 to 3820)
  AUTHORS   Singh,G., Charlet-B,N., Han,J. and Cooper,T.A.
  TITLE     ETR-3 and CELF4 protein domains required for RNA binding and
            splicing activity in vivo
  JOURNAL   Nucleic Acids Res 32 (3), 1232-1241 (2004)
   PUBMED   14973222
  REMARK    GeneRIF: Determination of CELF4 protein domains required for RNA
            splicing.
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3820)
  AUTHORS   Wistow,G., Bernstein,S.L., Wyatt,M.K., Ray,S., Behal,A.,
            Touchman,J.W., Bouffard,G., Smith,D. and Peterson,K.
  TITLE     Expressed sequence tag analysis of human retina for the NEIBank
            Project: retbindin, an abundant, novel retinal cDNA and alternative
            splicing of other retina-preferred gene transcripts
  JOURNAL   Mol Vis 8, 196-204 (2002)
   PUBMED   12107411
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 3820)
  AUTHORS   Tchernev,V.T., Mansfield,T.A., Giot,L., Kumar,A.M., Nandabalan,K.,
            Li,Y., Mishra,V.S., Detter,J.C., Rothberg,J.M., Wallace,M.R.,
            Southwick,F.S. and Kingsmore,S.F.
  TITLE     The Chediak-Higashi protein interacts with SNARE complex and signal
            transduction proteins
  JOURNAL   Mol Med 8 (1), 56-64 (2002)
   PUBMED   11984006
REFERENCE   9  (bases 1 to 3820)
  AUTHORS   Ladd,A.N., Charlet,N. and Cooper,T.A.
  TITLE     The CELF family of RNA binding proteins is implicated in
            cell-specific and developmentally regulated alternative splicing
  JOURNAL   Mol Cell Biol 21 (4), 1285-1296 (2001)
   PUBMED   11158314
REFERENCE   10 (bases 1 to 3820)
  AUTHORS   Good,P.J., Chen,Q., Warner,S.J. and Herring,D.C.
  TITLE     A family of human RNA-binding proteins related to the Drosophila
            Bruno translational regulator
  JOURNAL   J Biol Chem 275 (37), 28583-28592 (2000)
   PUBMED   10893231
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC129908.4, AF329265.1,
            AC090386.13, AB209774.1, AC015961.16 and BM671360.1.
            
            On Nov 24, 2018 this sequence version replaced NM_020180.3.
            
            Summary: Members of the CELF/BRUNOL protein family contain two
            N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM
            domain, and a divergent segment of 160-230 aa between the second
            and third RRM domains. Members of this protein family regulate
            pre-mRNA alternative splicing and may also be involved in mRNA
            editing, and translation. Multiple transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            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 :: SRR1803614.132581.1,
                                           SRR1660807.63963.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000420428.7/ ENSP00000410584.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-157               AC129908.4         122830-122986       c
            158-1140            AF329265.1         1-983
            1141-1141           AC090386.13        136008-136008
            1142-1618           AF329265.1         985-1461
            1619-1880           AB209774.1         1649-1910
            1881-3172           AC015961.16        152434-153725       c
            3173-3820           BM671360.1         12-659              c
FEATURES             Location/Qualifiers
     source          1..3820
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.2"
     gene            1..3820
                     /gene="CELF4"
                     /gene_synonym="BRUNOL4; CELF-4"
                     /note="CUGBP Elav-like family member 4"
                     /db_xref="GeneID:56853"
                     /db_xref="HGNC:HGNC:14015"
                     /db_xref="MIM:612679"
     exon            1..443
                     /gene="CELF4"
                     /gene_synonym="BRUNOL4; CELF-4"
                     /inference="alignment:Splign:2.1.0"
     CDS             158..1618
                     /gene="CELF4"
                     /gene_synonym="BRUNOL4; CELF-4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     LYST-interacting protein LIP9; CUG-BP- and ETR-3-like
                     factor 4; RNA-binding protein BRUNOL4; bruno-like protein
                     4; bruno-like 4, RNA binding protein"
                     /codon_start=1
                     /product="CUGBP Elav-like family member 4 isoform 1"
                     /protein_id="NP_064565.1"
                     /db_xref="CCDS:CCDS32818.1"
                     /db_xref="GeneID:56853"
                     /db_xref="HGNC:HGNC:14015"
                     /db_xref="MIM:612679"
                     /translation="MYIKMATLANGQADNASLSTNGLGSSPGSAGHMNGLSHSPGNPS
                     TIPMKDHDAIKLFIGQIPRNLDEKDLKPLFEEFGKIYELTVLKDRFTGMHKGCAFLTY
                     CERESALKAQSALHEQKTLPGMNRPIQVKPADSESRGGSSCLRQPPSQDRKLFVGMLN
                     KQQSEDDVRRLFEAFGNIEECTILRGPDGNSKGCAFVKYSSHAEAQAAINALHGSQTM
                     PGASSSLVVKFADTDKERTMRRMQQMAGQMGMFNPMAIPFGAYGAYAQALMQQQAALM
                     ASVAQGGYLNPMAAFAAAQMQQMAALNMNGLAAAPMTPTSGGSTPPGITAPAVPSIPS
                     PIGVNGFTGLPPQANGQPAAEAVFANGIHPYPAQSPTAADPLQQAYAGVQQYAGPAAY
                     PAAYGQISQAFPQPPPMIPQQQREGPEGCNLFIYHLPQEFGDAELMQMFLPFGFVSFD
                     NPASAQTAIQAMNGFQIGMKRLKVQLKRPKDANRPY"
     exon            444..526
                     /gene="CELF4"
                     /gene_synonym="BRUNOL4; CELF-4"
                     /inference="alignment:Splign:2.1.0"
     exon            527..605
                     /gene="CELF4"
                     /gene_synonym="BRUNOL4; CELF-4"
                     /inference="alignment:Splign:2.1.0"
     exon            606..734
                     /gene="CELF4"
                     /gene_synonym="BRUNOL4; CELF-4"
                     /inference="alignment:Splign:2.1.0"
     exon            735..814
                     /gene="CELF4"
                     /gene_synonym="BRUNOL4; CELF-4"
                     /inference="alignment:Splign:2.1.0"
     exon            815..958
                     /gene="CELF4"
                     /gene_synonym="BRUNOL4; CELF-4"
                     /inference="alignment:Splign:2.1.0"
     exon            959..1106
                     /gene="CELF4"
                     /gene_synonym="BRUNOL4; CELF-4"
                     /inference="alignment:Splign:2.1.0"
     exon            1107..1256
                     /gene="CELF4"
                     /gene_synonym="BRUNOL4; CELF-4"
                     /inference="alignment:Splign:2.1.0"
     exon            1257..1322
                     /gene="CELF4"
                     /gene_synonym="BRUNOL4; CELF-4"
                     /inference="alignment:Splign:2.1.0"
     exon            1323..1406
                     /gene="CELF4"
                     /gene_synonym="BRUNOL4; CELF-4"
                     /inference="alignment:Splign:2.1.0"
     exon            1407..1490
                     /gene="CELF4"
                     /gene_synonym="BRUNOL4; CELF-4"
                     /inference="alignment:Splign:2.1.0"
     exon            1491..1662
                     /gene="CELF4"
                     /gene_synonym="BRUNOL4; CELF-4"
                     /inference="alignment:Splign:2.1.0"
     exon            1663..3820
                     /gene="CELF4"
                     /gene_synonym="BRUNOL4; CELF-4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3799..3804
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CELF4"
                     /gene_synonym="BRUNOL4; CELF-4"
                     /note="hexamer: AATAAA"
     polyA_site      3820
                     /gene="CELF4"
                     /gene_synonym="BRUNOL4; CELF-4"
                     /note="major polyA site"
ORIGIN      
        1 gagagagcag agagcgagcg gagagcgagg tgtagagaaa ccgaggggga gagaacccga
       61 gtgtgtgtat gcgtgtgcgt gtgtgagcgc gagcgagcga gagagaggag cgagagagtg
      121 tgagcgagaa agaataaaag gaaagaagat tttctctatg tatataaaga tggccacgtt
      181 agcaaacgga caggctgaca acgcaagcct cagtaccaac gggctcggca gcagcccggg
      241 cagtgccggg cacatgaacg gattaagcca cagcccgggg aacccgtcga ccattcccat
      301 gaaggaccac gatgccatca agctgttcat tgggcagatc ccccgcaacc tggatgagaa
      361 ggacctcaag cccctcttcg aggagtttgg caaaatctac gagcttacgg ttctgaagga
      421 caggttcaca ggcatgcaca aaggctgcgc cttcctcacc tactgcgagc gtgagtcagc
      481 gctgaaggcc cagagcgcgc tgcacgagca gaagactctg cccgggatga accggccgat
      541 ccaggtgaag cctgcggaca gcgagagccg aggaggtagt agctgcctgc gccagccccc
      601 ttcacaagat agaaaactct tcgtgggcat gctcaacaag caacagtccg aggacgacgt
      661 gcgccgcctt ttcgaggcct ttgggaacat cgaggagtgc accatcctgc gcgggcccga
      721 cggcaacagc aaggggtgcg cctttgtgaa gtactcctcc cacgccgagg cgcaggccgc
      781 catcaacgcg ctacacggca gccagaccat gccgggagcc tcgtccagtc tggtggtcaa
      841 gttcgccgac accgacaagg agcgcacgat gcggcgaatg cagcagatgg ctggccagat
      901 gggcatgttc aaccccatgg ccatcccttt cggggcctac ggcgcctacg ctcaggcact
      961 gatgcagcag caagcggccc tgatggcatc agtcgcgcag ggcggctacc tgaaccccat
     1021 ggctgccttc gctgccgccc agatgcagca gatggcggcc ctcaacatga atggcctggc
     1081 ggccgcacct atgaccccaa cctcaggtgg cagcacccct ccgggcatca ctgcaccagc
     1141 cgtgcctagc atcccatccc ccattggggt gaatggcttc accggcctcc ccccacaggc
     1201 caatgggcaa cctgctgcgg aagctgtgtt cgccaatggc atccacccct acccagcaca
     1261 gagccccacc gccgcggacc ccctgcagca ggcctacgcc ggagtgcagc agtatgcagg
     1321 tccagctgcc taccctgctg cctatggtca gataagccag gcctttcctc agccgcctcc
     1381 aatgatcccc cagcagcaga gagaagggcc cgagggctgt aacctgttca tctaccatct
     1441 gccccaggag tttggggacg ctgagctgat gcagatgttc ctccctttcg gcttcgtgag
     1501 cttcgacaac ccggccagcg cgcagaccgc catccaggcc atgaacggct tccagatcgg
     1561 catgaagagg ctcaaggtgc agctgaagcg gcccaaagac gccaatcgcc cgtactgagc
     1621 gccggcggga gcgtcccccg ggggagacca ggactcgcac agggcaggat gctgaacggg
     1681 ctacattaaa aaacaaacct ctctctatat atatttataa atgagaactg ttggatgaca
     1741 cctttgacat atcagccaat atcaatcaag ctgaagactc cagacactgt ctgtgtgact
     1801 gtaacatttc ttcaaggaaa gtatagcgtc tatggagttc agagggcacg tgtttggggg
     1861 aaaatatata tgacatgaag aagaagatga agaaaaatga gaaaaaaaca cacaaaaggc
     1921 aactttaaaa caaaatatca cgagcagacg gggaggctga agggctggga gctgggagga
     1981 gacgctgctt accgatcccg gggcttttcc agcccacggg cgcctgacgc aggctggggc
     2041 aagtggtgcg tggggcctgg tccccaaggg gcggctgaga ggccgccact gagcatctct
     2101 atctgtcatt cctttagcta tttagggacc aaaggaccaa actttttatt gcagatgtgt
     2161 agctctatgt caaatagagg gggaatggag gaccccctcc ttcctgcctc atggctgttc
     2221 ttgaaacagc ttagagcgat tctatgaaaa aatgtaataa aaaattaaaa aaaaaacaaa
     2281 aaacaaaaaa aacaacaaaa aaaggaaaaa taacgcttca atgcttttaa aacagcaaga
     2341 taatagttct ttgatacttt gagaggcgct ttgatgaccc tcatccaagt ctatgacact
     2401 ttcctatggt tttctgtatt ctatgtctgg atggagctgt taaaagatga acaaattggt
     2461 ggatatttgg ggaaagcaac acaaatctta aaactcaccc gtgaagtgtg agaaaacaag
     2521 gaggggaaca aatgggactt accaagcaag gtcattgttg tgaaaagtct gtaaatgctt
     2581 ctaactcttc cccctcttaa aatcataata gttgtacaga attttaaaaa ggaaaagttt
     2641 aaaataccta tataatagaa gaaaaattag aggaaagcaa aaaataaaaa aaaaaaataa
     2701 aaaaggaaaa aaaaaaccta tagaagttag cattactgct aaaatcccag atgttgtagg
     2761 actgtacttt tgtagagttt agacagagca tcaatccctt ctccccgcga gtgcagtcgg
     2821 atgccgttgt ccccaagggc caggccgaac tcgccccaca cctgcgggcg cctggctgcc
     2881 gacgccggtg gaggccacgc cgtcggtcgg gaacggtcgc gtcgcccggg tcgccgccgc
     2941 cgccgccgcc gtcatcctcg cctctcgctt ccctctggga gctgcgcgcg cttcactcac
     3001 cttccgcttc actcgccttc cacgcttgct ccagagactt tccgggcaag ggagaactgg
     3061 gaactttcat cttaaaacaa ctagacaaca cacacacaca caaaacctta aaaaagagag
     3121 agaaaaataa acaatctttg aagaatttct gaaactgttt acaaggaatt ttgaaaaaca
     3181 gggatgttta aatgatgccg gctctgtttt tctgtaaata aatttgcata ttttgtagga
     3241 cttttaattg taatgataga gaaaaaaaca aggaaaacta tttaatgaaa gcacgatatt
     3301 tatctttggt aaatgacttt agagcagtta aagacattgc ttaaaaaact cagaatcaga
     3361 aaaaacactg aattatttaa gaacacatat attttaaagt ataacatatt tattataatt
     3421 tatttgcacc cttgggaaga ttgctttggc attctgcctt gattccttct cattgatgtc
     3481 caggtcatct ggaggccggg ggttctcaga cctaccagtt tccctttaga agaacaaatt
     3541 tccagttcct ctagggcctc ctgcctttcc tttctttctg tcaattttgt tgttgttgtt
     3601 gtttttcatt ttcttttttt ctcttgactc ctccttttag gatgtccaga tgtaaaaaaa
     3661 aaaaaaaaaa aaagaaaaaa agaaaaaaaa aagaaaacag ctgcagttca gtacaactgc
     3721 tcttttcaca ctcaactccc taaaactcct tgtaaccttc tgtaactatt ggatgacgct
     3781 ttctccagct tagccctaaa taaagcacag tttaaaaaaa
//
