CELF5_HUMAN
ID CELF5_HUMAN Reviewed; 485 AA.
AC Q8N6W0; D6W614; O75253; Q59GP2; Q86VW6; Q9BZC0; Q9NR86;
DT 10-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 161.
DE RecName: Full=CUGBP Elav-like family member 5;
DE Short=CELF-5;
DE AltName: Full=Bruno-like protein 5;
DE AltName: Full=CUG-BP- and ETR-3-like factor 5;
DE AltName: Full=RNA-binding protein BRUNOL-5;
GN Name=CELF5; Synonyms=BRUNOL5;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
RA Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.,
RA Ohara O., Nagase T., Kikuno R.F.;
RL Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT LEU-65.
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE OF 1-482 (ISOFORM 1), FUNCTION, RNA-BINDING, AND TISSUE
RP SPECIFICITY.
RC TISSUE=Brain;
RX PubMed=11158314; DOI=10.1128/mcb.21.4.1285-1296.2001;
RA Ladd A.N., Charlet-B N., Cooper T.A.;
RT "The CELF family of RNA binding proteins is implicated in cell-specific and
RT developmentally regulated alternative splicing.";
RL Mol. Cell. Biol. 21:1285-1296(2001).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 396-478 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=10893231; DOI=10.1074/jbc.m003083200;
RA Good P.J., Chen Q., Warner S.J., Herring D.C.;
RT "A family of human RNA-binding proteins related to the Drosophila Bruno
RT translational regulator.";
RL J. Biol. Chem. 275:28583-28592(2000).
RN [7]
RP STRUCTURE BY NMR OF 126-217.
RG RIKEN structural genomics initiative (RSGI);
RT "Solution structure of RNA-binding domain in bruno-like 5 RNA-binding
RT protein.";
RL Submitted (OCT-2006) to the PDB data bank.
CC -!- FUNCTION: RNA-binding protein implicated in the regulation of pre-mRNA
CC alternative splicing. Mediates exon inclusion and/or exclusion in pre-
CC mRNA that are subject to tissue-specific and developmentally regulated
CC alternative splicing. Specifically activates exon 5 inclusion of
CC cardiac isoforms of TNNT2 during heart remodeling at the juvenile to
CC adult transition. Binds to muscle-specific splicing enhancer (MSE)
CC intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA.
CC {ECO:0000269|PubMed:11158314}.
CC -!- INTERACTION:
CC Q8N6W0; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-12139335, EBI-3867333;
CC Q8N6W0; Q15038: DAZAP2; NbExp=6; IntAct=EBI-12139335, EBI-724310;
CC Q8N6W0; Q8IUG1: KRTAP1-3; NbExp=3; IntAct=EBI-12139335, EBI-11749135;
CC Q8N6W0; P60328: KRTAP12-3; NbExp=3; IntAct=EBI-12139335, EBI-11953334;
CC Q8N6W0; Q9BYP8: KRTAP17-1; NbExp=3; IntAct=EBI-12139335, EBI-11988175;
CC Q8N6W0; Q3LI72: KRTAP19-5; NbExp=3; IntAct=EBI-12139335, EBI-1048945;
CC Q8N6W0; Q6PEX3: KRTAP26-1; NbExp=3; IntAct=EBI-12139335, EBI-3957672;
CC Q8N6W0; Q9BYR7: KRTAP3-2; NbExp=3; IntAct=EBI-12139335, EBI-751260;
CC Q8N6W0; Q9BYR6: KRTAP3-3; NbExp=3; IntAct=EBI-12139335, EBI-3957694;
CC Q8N6W0; Q9BYR5: KRTAP4-2; NbExp=3; IntAct=EBI-12139335, EBI-10172511;
CC Q8N6W0; Q3LI64: KRTAP6-1; NbExp=5; IntAct=EBI-12139335, EBI-12111050;
CC Q8N6W0; Q3LI66: KRTAP6-2; NbExp=3; IntAct=EBI-12139335, EBI-11962084;
CC Q8N6W0; Q8IUC3: KRTAP7-1; NbExp=3; IntAct=EBI-12139335, EBI-18394498;
CC Q8N6W0; Q9BYQ3: KRTAP9-3; NbExp=3; IntAct=EBI-12139335, EBI-1043191;
CC Q8N6W0; Q9BYQ0: KRTAP9-8; NbExp=3; IntAct=EBI-12139335, EBI-11958364;
CC Q8N6W0; P0DPK4: NOTCH2NLC; NbExp=3; IntAct=EBI-12139335, EBI-22310682;
CC Q8N6W0; Q9NZ81: PRR13; NbExp=3; IntAct=EBI-12139335, EBI-740924;
CC Q8N6W0; A0AV96: RBM47; NbExp=3; IntAct=EBI-12139335, EBI-2823850;
CC Q8N6W0; Q6EMK4: VASN; NbExp=3; IntAct=EBI-12139335, EBI-10249550;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N6W0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N6W0-2; Sequence=VSP_026844, VSP_026845, VSP_026846;
CC -!- TISSUE SPECIFICITY: Expressed in brain. {ECO:0000269|PubMed:11158314}.
CC -!- SIMILARITY: Belongs to the CELF/BRUNOL family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAC27666.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAK07476.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
CC Sequence=BAD92304.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB209067; BAD92304.1; ALT_INIT; mRNA.
DR EMBL; AC005331; AAC27666.1; ALT_INIT; Genomic_DNA.
DR EMBL; AC006505; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC010649; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC123911; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471139; EAW69327.1; -; Genomic_DNA.
DR EMBL; CH471139; EAW69328.1; -; Genomic_DNA.
DR EMBL; BC028101; AAH28101.1; -; mRNA.
DR EMBL; AF329266; AAK07476.1; ALT_SEQ; mRNA.
DR EMBL; AF248649; AAF86231.1; -; mRNA.
DR CCDS; CCDS12106.1; -. [Q8N6W0-1]
DR CCDS; CCDS54197.1; -. [Q8N6W0-2]
DR RefSeq; NP_001166144.1; NM_001172673.1. [Q8N6W0-2]
DR RefSeq; NP_068757.2; NM_021938.3. [Q8N6W0-1]
DR RefSeq; XP_006722895.1; XM_006722832.1. [Q8N6W0-1]
DR PDB; 2DNH; NMR; -; A=126-217.
DR PDBsum; 2DNH; -.
DR AlphaFoldDB; Q8N6W0; -.
DR SMR; Q8N6W0; -.
DR BioGRID; 121954; 35.
DR IntAct; Q8N6W0; 32.
DR STRING; 9606.ENSP00000292672; -.
DR iPTMnet; Q8N6W0; -.
DR PhosphoSitePlus; Q8N6W0; -.
DR BioMuta; CELF5; -.
DR DMDM; 74762534; -.
DR jPOST; Q8N6W0; -.
DR MassIVE; Q8N6W0; -.
DR PaxDb; Q8N6W0; -.
DR PeptideAtlas; Q8N6W0; -.
DR PRIDE; Q8N6W0; -.
DR ProteomicsDB; 72243; -. [Q8N6W0-1]
DR ProteomicsDB; 72244; -. [Q8N6W0-2]
DR Antibodypedia; 23187; 150 antibodies from 26 providers.
DR DNASU; 60680; -.
DR Ensembl; ENST00000292672.7; ENSP00000292672.1; ENSG00000161082.13. [Q8N6W0-1]
DR Ensembl; ENST00000541430.6; ENSP00000443498.1; ENSG00000161082.13. [Q8N6W0-2]
DR GeneID; 60680; -.
DR KEGG; hsa:60680; -.
DR MANE-Select; ENST00000292672.7; ENSP00000292672.1; NM_021938.4; NP_068757.2.
DR UCSC; uc002lxm.4; human. [Q8N6W0-1]
DR CTD; 60680; -.
DR DisGeNET; 60680; -.
DR GeneCards; CELF5; -.
DR HGNC; HGNC:14058; CELF5.
DR HPA; ENSG00000161082; Tissue enriched (brain).
DR MIM; 612680; gene.
DR neXtProt; NX_Q8N6W0; -.
DR OpenTargets; ENSG00000161082; -.
DR PharmGKB; PA25429; -.
DR VEuPathDB; HostDB:ENSG00000161082; -.
DR eggNOG; KOG0146; Eukaryota.
DR GeneTree; ENSGT00940000154201; -.
DR HOGENOM; CLU_015367_0_1_1; -.
DR InParanoid; Q8N6W0; -.
DR OMA; FQVGMKR; -.
DR OrthoDB; 1209165at2759; -.
DR PhylomeDB; Q8N6W0; -.
DR TreeFam; TF314924; -.
DR PathwayCommons; Q8N6W0; -.
DR SignaLink; Q8N6W0; -.
DR BioGRID-ORCS; 60680; 13 hits in 1073 CRISPR screens.
DR ChiTaRS; CELF5; human.
DR EvolutionaryTrace; Q8N6W0; -.
DR GenomeRNAi; 60680; -.
DR Pharos; Q8N6W0; Tbio.
DR PRO; PR:Q8N6W0; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q8N6W0; protein.
DR Bgee; ENSG00000161082; Expressed in endothelial cell and 128 other tissues.
DR ExpressionAtlas; Q8N6W0; baseline and differential.
DR Genevisible; Q8N6W0; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:1990904; C:ribonucleoprotein complex; IBA:GO_Central.
DR GO; GO:0003729; F:mRNA binding; IBA:GO_Central.
DR GO; GO:0036002; F:pre-mRNA binding; NAS:UniProtKB.
DR GO; GO:0003723; F:RNA binding; IBA:GO_Central.
DR GO; GO:0006376; P:mRNA splice site selection; IBA:GO_Central.
DR GO; GO:0000381; P:regulation of alternative mRNA splicing, via spliceosome; IDA:UniProtKB.
DR CDD; cd12632; RRM1_CELF3_4_5_6; 1.
DR Gene3D; 3.30.70.330; -; 3.
DR InterPro; IPR034648; CELF3/4/5/6_RRM1.
DR InterPro; IPR012677; Nucleotide-bd_a/b_plait_sf.
DR InterPro; IPR035979; RBD_domain_sf.
DR InterPro; IPR000504; RRM_dom.
DR Pfam; PF00076; RRM_1; 3.
DR SMART; SM00360; RRM; 3.
DR SUPFAM; SSF54928; SSF54928; 2.
DR PROSITE; PS50102; RRM; 3.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Cytoplasm; mRNA processing; Nucleus;
KW Reference proteome; Repeat; RNA-binding.
FT CHAIN 1..485
FT /note="CUGBP Elav-like family member 5"
FT /id="PRO_0000295227"
FT DOMAIN 45..126
FT /note="RRM 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00176"
FT DOMAIN 134..214
FT /note="RRM 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00176"
FT DOMAIN 400..478
FT /note="RRM 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00176"
FT REGION 1..40
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 7..22
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 298..322
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_026844"
FT VAR_SEQ 397..434
FT /note="PEGCNLFIYHLPQEFGDTELTQMFLPFGNIISSKVFMD -> VWRHGADADV
FT PTLRQYHFLQGVYGSSYQPEQVFRLREL (in isoform 2)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_026845"
FT VAR_SEQ 435..485
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_026846"
FT VARIANT 65
FT /note="F -> L (in dbSNP:rs17854481)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_033264"
FT CONFLICT 293
FT /note="I -> V (in Ref. 5; AAK07476)"
FT /evidence="ECO:0000305"
FT STRAND 135..140
FT /evidence="ECO:0007829|PDB:2DNH"
FT HELIX 147..154
FT /evidence="ECO:0007829|PDB:2DNH"
FT TURN 155..157
FT /evidence="ECO:0007829|PDB:2DNH"
FT STRAND 160..167
FT /evidence="ECO:0007829|PDB:2DNH"
FT STRAND 169..171
FT /evidence="ECO:0007829|PDB:2DNH"
FT STRAND 173..183
FT /evidence="ECO:0007829|PDB:2DNH"
FT HELIX 184..194
FT /evidence="ECO:0007829|PDB:2DNH"
FT STRAND 208..212
FT /evidence="ECO:0007829|PDB:2DNH"
SQ SEQUENCE 485 AA; 52355 MW; AB805B4971619E05 CRC64;
MARLTESEAR RQQQQLLQPR PSPVGSSGPE PPGGQPDGMK DLDAIKLFVG QIPRHLDEKD
LKPLFEQFGR IYELTVLKDP YTGMHKGCAF LTYCARDSAI KAQTALHEQK TLPGMARPIQ
VKPADSESRG GRDRKLFVGM LNKQQSEEDV LRLFQPFGVI DECTVLRGPD GSSKGCAFVK
FSSHTEAQAA IHALHGSQTM PGASSSLVVK FADTDKERTL RRMQQMVGQL GILTPSLTLP
FSPYSAYAQA LMQQQTTVLS TSGSYLSPGV AFSPCHIQQI GAVSLNGLPA TPIAPASGLH
SPPLLGTTAV PGLVAPITNG FAGVVPFPGG HPALETVYAN GLVPYPAQSP TVAETLHPAF
SGVQQYTAMY PTAAITPIAH SVPQPPPLLQ QQQREGPEGC NLFIYHLPQE FGDTELTQMF
LPFGNIISSK VFMDRATNQS KCFGFVSFDN PASAQAAIQA MNGFQIGMKR LKVQLKRPKD
PGHPY
