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Q5SZQ8

- CELF3_HUMAN

UniProt

Q5SZQ8 - CELF3_HUMAN

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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

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ5SZQ8.
CleanExiHS_TNRC4.
ExpressionAtlasiQ5SZQ8. baseline.
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.
GeneTreeiENSGT00560000076837.
HOVERGENiHBG107646.
InParanoidiQ5SZQ8.
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

        10         20         30         40         50
MKEPDAIKLF VGQIPRHLEE KDLKPIFEQF GRIFELTVIK DKYTGLHKGC
60 70 80 90 100
AFLTYCARDS ALKAQSALHE QKTLPGMNRP IQVKPADSES RGEDRKLFVG
110 120 130 140 150
MLGKQQTDED VRKMFEPFGT IDECTVLRGP DGTSKGCAFV KFQTHAEAQA
160 170 180 190 200
AINTLHSSRT LPGASSSLVV KFADTEKERG LRRMQQVATQ LGMFSPIALQ
210 220 230 240 250
FGAYSAYTQA LMQQQAALVA AHSAYLSPMA TMAAVQMQHM AAINANGLIA
260 270 280 290 300
TPITPSSGTS TPPAIAATPV SAIPAALGVN GYSPVPTQPT GQPAPDALYP
310 320 330 340 350
NGVHPYPAQS PAAPVDPLQQ AYAGMQHYTA AYPAAYSLVA PAFPQPPALV
360 370 380 390 400
AQQPPPPPQQ QQQQQQQQQQ QQQREGPDGC NIFIYHLPQE FTDSEILQMF
410 420 430 440 450
VPFGHVISAK VFVDRATNQS KCFGFVSFDN PASAQAAIQA MNGFQIGMKR
460
LKVQLKRPKD ANRPY
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.
GeneTreei ENSGT00560000076837.
HOVERGENi HBG107646.
InParanoidi Q5SZQ8.
KOi K13207.
OrthoDBi EOG7DVDBR.
PhylomeDBi Q5SZQ8.
TreeFami TF314924.

Miscellaneous databases

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

Gene expression databases

Bgeei Q5SZQ8.
CleanExi HS_TNRC4.
ExpressionAtlasi Q5SZQ8. baseline.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 104 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