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Q5SZQ8

- CELF3_HUMAN

UniProt

Q5SZQ8 - CELF3_HUMAN

Protein

CUGBP Elav-like family member 3

Gene

CELF3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 103 (01 Oct 2014)
      Sequence version 1 (21 Dec 2004)
      Previous versions | rss
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    Functioni

    RNA-binding protein involved in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Activates the splicing of MAPT/Tau exon 10. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA.2 Publications

    GO - Molecular functioni

    1. mRNA binding Source: UniProtKB
    2. nucleotide binding Source: InterPro
    3. RNA binding Source: UniProtKB

    GO - Biological processi

    1. mRNA splicing, via spliceosome Source: UniProtKB
    2. positive regulation of mRNA splicing, via spliceosome Source: UniProtKB
    3. regulation of alternative mRNA splicing, via spliceosome Source: UniProtKB
    4. RNA splicing Source: UniProtKB
    5. spermatogenesis Source: Ensembl
    6. sperm motility Source: Ensembl

    Keywords - Molecular functioni

    Activator

    Keywords - Biological processi

    mRNA processing, mRNA splicing

    Keywords - Ligandi

    RNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    CUGBP Elav-like family member 3
    Short name:
    CELF-3
    Alternative name(s):
    Bruno-like protein 1
    CAG repeat protein 4
    CUG-BP- and ETR-3-like factor 3
    ELAV-type RNA-binding protein 1
    Short name:
    ETR-1
    Expanded repeat domain protein CAG/CTG 4
    RNA-binding protein BRUNOL-1
    Trinucleotide repeat-containing gene 4 protein
    Gene namesi
    Name:CELF3
    Synonyms:BRUNOL1, CAGH4, ERDA4, TNRC4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:11967. CELF3.

    Subcellular locationi

    Nucleus By similarity. Cytoplasm By similarity

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA36654.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 465465CUGBP Elav-like family member 3PRO_0000295198Add
    BLAST

    Proteomic databases

    PaxDbiQ5SZQ8.
    PRIDEiQ5SZQ8.

    PTM databases

    PhosphoSiteiQ5SZQ8.

    Expressioni

    Tissue specificityi

    Expressed in brain.1 Publication

    Gene expression databases

    ArrayExpressiQ5SZQ8.
    BgeeiQ5SZQ8.
    CleanExiHS_TNRC4.
    GenevestigatoriQ5SZQ8.

    Organism-specific databases

    HPAiHPA006292.

    Interactioni

    Protein-protein interaction databases

    BioGridi116359. 7 interactions.
    IntActiQ5SZQ8. 5 interactions.
    MINTiMINT-4866187.

    Structurei

    Secondary structure

    1
    465
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi97 – 1015
    Helixi108 – 1158
    Helixi116 – 1183
    Beta strandi121 – 1288
    Beta strandi134 – 14411
    Helixi145 – 15511
    Beta strandi165 – 1673
    Beta strandi170 – 1723

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2DNONMR-A90-178[»]
    ProteinModelPortaliQ5SZQ8.
    SMRiQ5SZQ8. Positions 1-180, 364-463.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ5SZQ8.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini7 – 8882RRM 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini95 – 17581RRM 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini380 – 45879RRM 3PROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi352 – 37322Gln-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the CELF/BRUNOL family.Curated
    Contains 3 RRM (RNA recognition motif) domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG251494.
    HOVERGENiHBG107646.
    KOiK13207.
    OrthoDBiEOG7DVDBR.
    PhylomeDBiQ5SZQ8.
    TreeFamiTF314924.

    Family and domain databases

    Gene3Di3.30.70.330. 2 hits.
    InterProiIPR012677. Nucleotide-bd_a/b_plait.
    IPR000504. RRM_dom.
    [Graphical view]
    PfamiPF00076. RRM_1. 3 hits.
    [Graphical view]
    SMARTiSM00360. RRM. 3 hits.
    [Graphical view]
    PROSITEiPS50102. RRM. 3 hits.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q5SZQ8-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MKEPDAIKLF VGQIPRHLEE KDLKPIFEQF GRIFELTVIK DKYTGLHKGC    50
    AFLTYCARDS ALKAQSALHE QKTLPGMNRP IQVKPADSES RGEDRKLFVG 100
    MLGKQQTDED VRKMFEPFGT IDECTVLRGP DGTSKGCAFV KFQTHAEAQA 150
    AINTLHSSRT LPGASSSLVV KFADTEKERG LRRMQQVATQ LGMFSPIALQ 200
    FGAYSAYTQA LMQQQAALVA AHSAYLSPMA TMAAVQMQHM AAINANGLIA 250
    TPITPSSGTS TPPAIAATPV SAIPAALGVN GYSPVPTQPT GQPAPDALYP 300
    NGVHPYPAQS PAAPVDPLQQ AYAGMQHYTA AYPAAYSLVA PAFPQPPALV 350
    AQQPPPPPQQ QQQQQQQQQQ QQQREGPDGC NIFIYHLPQE FTDSEILQMF 400
    VPFGHVISAK VFVDRATNQS KCFGFVSFDN PASAQAAIQA MNGFQIGMKR 450
    LKVQLKRPKD ANRPY 465
    Length:465
    Mass (Da):50,548
    Last modified:December 21, 2004 - v1
    Checksum:i59B74F120090C15F
    GO
    Isoform 2 (identifier: Q5SZQ8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         330-330: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:464
    Mass (Da):50,477
    Checksum:iE02FE9050D638FA3
    GO
    Isoform 3 (identifier: Q5SZQ8-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         93-93: Missing.

    Show »
    Length:464
    Mass (Da):50,419
    Checksum:iD1C98752B8DD9F70
    GO
    Isoform 4 (identifier: Q5SZQ8-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         258-307: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:415
    Mass (Da):45,686
    Checksum:iDA0C7D67794166E0
    GO

    Sequence cautioni

    The sequence AAB91444.1 differs from that shown. Reason: Frameshift at position 136.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti149 – 1491Q → K in AAH52491. (PubMed:15489334)Curated
    Sequence conflicti198 – 1981A → T in AAH52491. (PubMed:15489334)Curated
    Sequence conflicti284 – 2841P → Q in AAH52491. (PubMed:15489334)Curated
    Sequence conflicti312 – 3121A → V in AAK07474. (PubMed:11158314)Curated
    Sequence conflicti312 – 3121A → V in AAN73884. 1 PublicationCurated

    Polymorphismi

    The poly-Gln tract in AAK07474 may be polymorphic.

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei93 – 931Missing in isoform 3. 1 PublicationVSP_026824
    Alternative sequencei258 – 30750Missing in isoform 4. CuratedVSP_046642Add
    BLAST
    Alternative sequencei330 – 3301Missing in isoform 2. 1 PublicationVSP_026825

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF329264 mRNA. Translation: AAK07474.1.
    AY165003 mRNA. Translation: AAN73884.1.
    AL589765 Genomic DNA. Translation: CAI17166.1.
    CH471121 Genomic DNA. Translation: EAW53422.1.
    BC052491 mRNA. Translation: AAH52491.1.
    BC068008 mRNA. Translation: AAH68008.1.
    BC104758 mRNA. Translation: AAI04759.1.
    BC143226 mRNA. Translation: AAI43227.1.
    U80746 mRNA. Translation: AAB91444.1. Frameshift.
    AF284423 mRNA. Translation: AAG14457.1.
    CCDSiCCDS1002.1. [Q5SZQ8-1]
    CCDS53367.1. [Q5SZQ8-4]
    RefSeqiNP_001166120.1. NM_001172649.3. [Q5SZQ8-4]
    NP_001278035.1. NM_001291106.1. [Q5SZQ8-2]
    NP_001278036.1. NM_001291107.1. [Q5SZQ8-3]
    NP_009116.3. NM_007185.6. [Q5SZQ8-1]
    UniGeneiHs.26047.

    Genome annotation databases

    EnsembliENST00000290583; ENSP00000290583; ENSG00000159409. [Q5SZQ8-1]
    ENST00000290585; ENSP00000290585; ENSG00000159409. [Q5SZQ8-4]
    GeneIDi11189.
    KEGGihsa:11189.
    UCSCiuc001eyr.3. human. [Q5SZQ8-3]
    uc001eys.2. human. [Q5SZQ8-1]
    uc009wmx.2. human. [Q5SZQ8-2]
    uc009wmy.3. human.

    Polymorphism databases

    DMDMi74756184.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF329264 mRNA. Translation: AAK07474.1 .
    AY165003 mRNA. Translation: AAN73884.1 .
    AL589765 Genomic DNA. Translation: CAI17166.1 .
    CH471121 Genomic DNA. Translation: EAW53422.1 .
    BC052491 mRNA. Translation: AAH52491.1 .
    BC068008 mRNA. Translation: AAH68008.1 .
    BC104758 mRNA. Translation: AAI04759.1 .
    BC143226 mRNA. Translation: AAI43227.1 .
    U80746 mRNA. Translation: AAB91444.1 . Frameshift.
    AF284423 mRNA. Translation: AAG14457.1 .
    CCDSi CCDS1002.1. [Q5SZQ8-1 ]
    CCDS53367.1. [Q5SZQ8-4 ]
    RefSeqi NP_001166120.1. NM_001172649.3. [Q5SZQ8-4 ]
    NP_001278035.1. NM_001291106.1. [Q5SZQ8-2 ]
    NP_001278036.1. NM_001291107.1. [Q5SZQ8-3 ]
    NP_009116.3. NM_007185.6. [Q5SZQ8-1 ]
    UniGenei Hs.26047.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2DNO NMR - A 90-178 [» ]
    ProteinModelPortali Q5SZQ8.
    SMRi Q5SZQ8. Positions 1-180, 364-463.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116359. 7 interactions.
    IntActi Q5SZQ8. 5 interactions.
    MINTi MINT-4866187.

    PTM databases

    PhosphoSitei Q5SZQ8.

    Polymorphism databases

    DMDMi 74756184.

    Proteomic databases

    PaxDbi Q5SZQ8.
    PRIDEi Q5SZQ8.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000290583 ; ENSP00000290583 ; ENSG00000159409 . [Q5SZQ8-1 ]
    ENST00000290585 ; ENSP00000290585 ; ENSG00000159409 . [Q5SZQ8-4 ]
    GeneIDi 11189.
    KEGGi hsa:11189.
    UCSCi uc001eyr.3. human. [Q5SZQ8-3 ]
    uc001eys.2. human. [Q5SZQ8-1 ]
    uc009wmx.2. human. [Q5SZQ8-2 ]
    uc009wmy.3. human.

    Organism-specific databases

    CTDi 11189.
    GeneCardsi GC01M151674.
    HGNCi HGNC:11967. CELF3.
    HPAi HPA006292.
    MIMi 612678. gene.
    neXtProti NX_Q5SZQ8.
    PharmGKBi PA36654.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG251494.
    HOVERGENi HBG107646.
    KOi K13207.
    OrthoDBi EOG7DVDBR.
    PhylomeDBi Q5SZQ8.
    TreeFami TF314924.

    Miscellaneous databases

    EvolutionaryTracei Q5SZQ8.
    GenomeRNAii 11189.
    NextBioi 42591.
    PROi Q5SZQ8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q5SZQ8.
    Bgeei Q5SZQ8.
    CleanExi HS_TNRC4.
    Genevestigatori Q5SZQ8.

    Family and domain databases

    Gene3Di 3.30.70.330. 2 hits.
    InterProi IPR012677. Nucleotide-bd_a/b_plait.
    IPR000504. RRM_dom.
    [Graphical view ]
    Pfami PF00076. RRM_1. 3 hits.
    [Graphical view ]
    SMARTi SM00360. RRM. 3 hits.
    [Graphical view ]
    PROSITEi PS50102. RRM. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing."
      Ladd A.N., Charlet-B N., Cooper T.A.
      Mol. Cell. Biol. 21:1285-1296(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, RNA-BINDING, TISSUE SPECIFICITY.
      Tissue: Brain.
    2. "The RNA binding protein CELF3 associates to the DMPK mRNA and is a negative regulator of mRNA stability involved in neuronal differentiation."
      d'Apolito M., Savino M., Grifa A., Quattrone A.
      Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Brain.
    3. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
      Tissue: Brain and Retinoblastoma.
    6. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 109-465 (ISOFORM 1).
      Tissue: Fetal brain.
    7. "A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator."
      Good P.J., Chen Q., Warner S.J., Herring D.C.
      J. Biol. Chem. 275:28583-28592(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 326-465.
    8. "Tau exon 10, whose missplicing causes frontotemporal dementia, is regulated by an intricate interplay of cis elements and trans factors."
      Wang J., Gao Q.S., Wang Y., Lafyatis R., Stamm S., Andreadis A.
      J. Neurochem. 88:1078-1090(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    9. "Solution structure of RNA binding domain in trinucleotide repeat containing 4 variant."
      RIKEN structural genomics initiative (RSGI)
      Submitted (OCT-2006) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 90-178.

    Entry informationi

    Entry nameiCELF3_HUMAN
    AccessioniPrimary (citable) accession number: Q5SZQ8
    Secondary accession number(s): B7ZKK6
    , O15414, Q499Y6, Q5SZQ7, Q6NVK0, Q8IZ98, Q9BZC2, Q9HB30
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 10, 2007
    Last sequence update: December 21, 2004
    Last modified: October 1, 2014
    This is version 103 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3