Q5SZQ8 (CELF3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	CELF3
Synonyms:	BRUNOL1, CAGH4, ERDA4, TNRC4

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	465 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.1 Ref.7
Subcellular location	Nucleus By similarity. Cytoplasm By similarity.
Tissue specificity	Expressed in brain. Ref.1
Polymorphism	The poly-Gln tract in AAK07474 may be polymorphic.
Sequence similarities	Belongs to the CELF/BRUNOL family. Contains 3 RRM (RNA recognition motif) domains.
Sequence caution	The sequence AAB91444.1 differs from that shown. Reason: Frameshift at position 136.

Ontologies

Keywords
Biological process	mRNA processing mRNA splicing
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat
Ligand	RNA-binding
Molecular function	Activator
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	mRNA splicing, via spliceosome Non-traceable author statement Ref.1. Source: UniProtKB positive regulation of mRNA splicing, via spliceosome Inferred from direct assay Ref.7. Source: UniProtKB regulation of alternative mRNA splicing, via spliceosome Inferred from direct assay Ref.1. Source: UniProtKB sperm motility Inferred from electronic annotation. Source: Compara spermatogenesis Inferred from electronic annotation. Source: Compara
Cellular_component	cytoplasm Inferred from direct assay PubMed 17725984. Source: UniProtKB nucleus Inferred from direct assay PubMed 17725984. Source: UniProtKB
Molecular_function	mRNA binding Non-traceable author statement Ref.1. Source: UniProtKB nucleotide binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q5SZQ8-1)

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.

Isoform 2 (identifier: Q5SZQ8-2)

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

Note: No experimental confirmation available.

Isoform 3 (identifier: Q5SZQ8-3)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 465	465	CUGBP Elav-like family member 3		PRO_0000295198
Regions
	Domain	7 – 88	82	RRM 1
	Domain	95 – 175	81	RRM 2
	Domain	380 – 458	79	RRM 3
	Compositional bias	352 – 373	22	Gln-rich
Natural variations
	Alternative sequence	93	1	Missing in isoform 3.		VSP_026824
	Alternative sequence	330	1	Missing in isoform 2.		VSP_026825
Experimental info
	Sequence conflict	149	1	Q → K in AAH52491. Ref.4
	Sequence conflict	198	1	A → T in AAH52491. Ref.4
	Sequence conflict	284	1	P → Q in AAH52491. Ref.4
	Sequence conflict	312	1	A → V in AAK07474. Ref.1
	Sequence conflict	312	1	A → V in AAN73884. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 21, 2004. Version 1. Checksum: 59B74F120090C15F	FASTA	465	50,548
	10 20 30 40 50 60 MKEPDAIKLF VGQIPRHLEE KDLKPIFEQF GRIFELTVIK DKYTGLHKGC AFLTYCARDS 70 80 90 100 110 120 ALKAQSALHE QKTLPGMNRP IQVKPADSES RGEDRKLFVG MLGKQQTDED VRKMFEPFGT 130 140 150 160 170 180 IDECTVLRGP DGTSKGCAFV KFQTHAEAQA AINTLHSSRT LPGASSSLVV KFADTEKERG 190 200 210 220 230 240 LRRMQQVATQ LGMFSPIALQ FGAYSAYTQA LMQQQAALVA AHSAYLSPMA TMAAVQMQHM 250 260 270 280 290 300 AAINANGLIA TPITPSSGTS TPPAIAATPV SAIPAALGVN GYSPVPTQPT GQPAPDALYP 310 320 330 340 350 360 NGVHPYPAQS PAAPVDPLQQ AYAGMQHYTA AYPAAYSLVA PAFPQPPALV AQQPPPPPQQ 370 380 390 400 410 420 QQQQQQQQQQ QQQREGPDGC NIFIYHLPQE FTDSEILQMF VPFGHVISAK VFVDRATNQS 430 440 450 460 KCFGFVSFDN PASAQAAIQA MNGFQIGMKR LKVQLKRPKD ANRPY
	Isoform 2 [UniParc]. Checksum: E02FE9050D638FA3	FASTA	464	50,477
	10 20 30 40 50 60 MKEPDAIKLF VGQIPRHLEE KDLKPIFEQF GRIFELTVIK DKYTGLHKGC AFLTYCARDS 70 80 90 100 110 120 ALKAQSALHE QKTLPGMNRP IQVKPADSES RGEDRKLFVG MLGKQQTDED VRKMFEPFGT 130 140 150 160 170 180 IDECTVLRGP DGTSKGCAFV KFQTHAEAQA AINTLHSSRT LPGASSSLVV KFADTEKERG 190 200 210 220 230 240 LRRMQQVATQ LGMFSPIALQ FGAYSAYTQA LMQQQAALVA AHSAYLSPMA TMAAVQMQHM 250 260 270 280 290 300 AAINANGLIA TPITPSSGTS TPPAIAATPV SAIPAALGVN GYSPVPTQPT GQPAPDALYP 310 320 330 340 350 360 NGVHPYPAQS PAAPVDPLQQ AYAGMQHYTA YPAAYSLVAP AFPQPPALVA QQPPPPPQQQ 370 380 390 400 410 420 QQQQQQQQQQ QQREGPDGCN IFIYHLPQEF TDSEILQMFV PFGHVISAKV FVDRATNQSK 430 440 450 460 CFGFVSFDNP ASAQAAIQAM NGFQIGMKRL KVQLKRPKDA NRPY
	Isoform 3 [UniParc]. Checksum: D1C98752B8DD9F70	FASTA	464	50,419
	10 20 30 40 50 60 MKEPDAIKLF VGQIPRHLEE KDLKPIFEQF GRIFELTVIK DKYTGLHKGC AFLTYCARDS 70 80 90 100 110 120 ALKAQSALHE QKTLPGMNRP IQVKPADSES RGDRKLFVGM LGKQQTDEDV RKMFEPFGTI 130 140 150 160 170 180 DECTVLRGPD GTSKGCAFVK FQTHAEAQAA INTLHSSRTL PGASSSLVVK FADTEKERGL 190 200 210 220 230 240 RRMQQVATQL GMFSPIALQF GAYSAYTQAL MQQQAALVAA HSAYLSPMAT MAAVQMQHMA 250 260 270 280 290 300 AINANGLIAT PITPSSGTST PPAIAATPVS AIPAALGVNG YSPVPTQPTG QPAPDALYPN 310 320 330 340 350 360 GVHPYPAQSP AAPVDPLQQA YAGMQHYTAA YPAAYSLVAP AFPQPPALVA QQPPPPPQQQ 370 380 390 400 410 420 QQQQQQQQQQ QQREGPDGCN IFIYHLPQEF TDSEILQMFV PFGHVISAKV FVDRATNQSK 430 440 450 460 CFGFVSFDNP ASAQAAIQAM NGFQIGMKRL KVQLKRPKDA NRPY

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	"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.
[5]	"cDNAs with long CAG trinucleotide repeats from human brain." Margolis R.L., Abraham M.R., Gatchell S.B., Li S.-H., Kidwai A.S., Breschel T.S., Stine O.C., Callahan C., McInnis M.G., Ross C.A. Hum. Genet. 100:114-122(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 109-465 (ISOFORM 1). Tissue: Fetal brain.
[6]	"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.
[7]	"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.
[8]	"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.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AF329264 mRNA. Translation: AAK07474.1.
AY165003 mRNA. Translation: AAN73884.1.
AL589765 Genomic DNA. Translation: CAI17166.1.
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.

IPI

IPI00852836.
IPI00852895.
IPI00852999.

RefSeq

NP_009116.3. NM_007185.4.

UniGene

Hs.26047.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2DNO	NMR	-	A	90-178	[»]

ProteinModelPortal

Q5SZQ8.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q5SZQ8. 3 interactions.

MINT

MINT-4866187.

PTM databases

PhosphoSite

Q5SZQ8.

Polymorphism databases

DMDM

74756184.

Proteomic databases

PaxDb

Q5SZQ8.

PRIDE

Q5SZQ8.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000290583; ENSP00000290583; ENSG00000159409.

GeneID

11189.

KEGG

hsa:11189.

UCSC

uc001eyr.3. human.
uc001eys.2. human.
uc009wmx.2. human.

Organism-specific databases

CTD

11189.

GeneCards

GC01M151674.

HGNC

HGNC:11967. CELF3.

HPA

HPA006292.

MIM

612678. gene.

neXtProt

NX_Q5SZQ8.

PharmGKB

PA36654.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG251494.

HOVERGEN

HBG107646.

KO

K13207.

OrthoDB

EOG4RJG30.

PhylomeDB

Q5SZQ8.

Gene expression databases

ArrayExpress

Q5SZQ8.

Bgee

Q5SZQ8.

CleanEx

HS_TNRC4.

Genevestigator

Q5SZQ8.

Family and domain databases

Gene3D

3.30.70.330. 2 hits.

InterPro

IPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
[Graphical view]

Pfam

PF00076. RRM_1. 3 hits.
[Graphical view]

SMART

SM00360. RRM. 3 hits.
[Graphical view]

PROSITE

PS50102. RRM. 3 hits.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

Q5SZQ8.

GenomeRNAi

11189.

NextBio

42591.

SOURCE

Search...

Entry information

Entry name

CELF3_HUMAN

Accession

Primary (citable) accession number: Q5SZQ8
Secondary accession number(s): B7ZKK6 , O15414, Q499Y6, Q6NVK0, Q8IZ98, Q9BZC2, Q9HB30

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 10, 2007
Last sequence update:	December 21, 2004
Last modified:	May 1, 2013
This is version 89 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.