LOCUS       NP_064565                486 aa            linear   PRI 28-APR-2025
DEFINITION  CUGBP Elav-like family member 4 isoform 1 [Homo sapiens].
ACCESSION   NP_064565 XP_943266 XP_948652 XP_948657 XP_948659 XP_948661
            XP_948666
VERSION     NP_064565.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 486)
  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  (residues 1 to 486)
  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  (residues 1 to 486)
  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  (residues 1 to 486)
  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  (residues 1 to 486)
  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  (residues 1 to 486)
  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  (residues 1 to 486)
  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  (residues 1 to 486)
  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  (residues 1 to 486)
  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 (residues 1 to 486)
  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 or before Mar 4, 2006 this sequence version replaced
            XP_948652.1, XP_948657.1, XP_948659.1, XP_948661.1, XP_948666.1,
            XP_943266.1.
            
            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##
FEATURES             Location/Qualifiers
     source          1..486
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.2"
     Protein         1..486
                     /product="CUGBP Elav-like family member 4 isoform 1"
                     /note="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"
                     /calculated_mol_wt=51835
     Region          1..298
                     /region_name="Sufficient for RNA-binding and MSE-dependent
                     splicing activity"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BZC1.1)"
     Region          18..39
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BZC1.1)"
     Region          49..135
                     /region_name="RRM1_CELF3_4_5_6"
                     /note="RNA recognition motif 1 (RRM1) found in CUGBP
                     Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and
                     similar proteins; cd12632"
                     /db_xref="CDD:410041"
     Site            order(55,57,59..60,63,82,84,86,95..97,99,129,131)
                     /site_type="other"
                     /note="putative RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410041"
     Region          <56..378
                     /region_name="PABP-1234"
                     /note="polyadenylate binding protein, human types 1, 2, 3,
                     4 family; TIGR01628"
                     /db_xref="CDD:130689"
     Region          121..149
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BZC1.1)"
     Region          151..231
                     /region_name="RRM2_CELF3_4_5_6"
                     /note="RNA recognition motif 2 (RRM2) found in CUGBP
                     Elav-like family member CELF-3, CELF-4, CELF-5, CELF-6 and
                     similar proteins; cd12635"
                     /db_xref="CDD:410043"
     Site            order(153,155,157..158,161,180,182,184,192..194,196,226,
                     228)
                     /site_type="other"
                     /note="putative RNA binding site [nucleotide binding]"
                     /db_xref="CDD:410043"
     Region          239..258
                     /region_name="Necessary for TNNT2 exon 5 inclusion"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BZC1.1)"
     Region          415..485
                     /region_name="RRM_SF"
                     /note="RNA recognition motif (RRM) superfamily; cl17169"
                     /db_xref="CDD:473069"
     CDS             1..486
                     /gene="CELF4"
                     /gene_synonym="BRUNOL4; CELF-4"
                     /coded_by="NM_020180.4:158..1618"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS32818.1"
                     /db_xref="GeneID:56853"
                     /db_xref="HGNC:HGNC:14015"
                     /db_xref="MIM:612679"
ORIGIN      
        1 myikmatlan gqadnaslst nglgsspgsa ghmnglshsp gnpstipmkd hdaiklfigq
       61 iprnldekdl kplfeefgki yeltvlkdrf tgmhkgcafl tyceresalk aqsalheqkt
      121 lpgmnrpiqv kpadsesrgg ssclrqppsq drklfvgmln kqqseddvrr lfeafgniee
      181 ctilrgpdgn skgcafvkys shaeaqaain alhgsqtmpg assslvvkfa dtdkertmrr
      241 mqqmagqmgm fnpmaipfga ygayaqalmq qqaalmasva qggylnpmaa faaaqmqqma
      301 alnmnglaaa pmtptsggst ppgitapavp sipspigvng ftglppqang qpaaeavfan
      361 gihpypaqsp taadplqqay agvqqyagpa aypaaygqis qafpqpppmi pqqqregpeg
      421 cnlfiyhlpq efgdaelmqm flpfgfvsfd npasaqtaiq amngfqigmk rlkvqlkrpk
      481 danrpy
//
