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Protein

CUGBP Elav-like family member 4

Gene

CELF4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

RNA-binding protein implicated 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. Promotes exclusion of both the smooth muscle (SM) and non-muscle (NM) exons in actinin pre-mRNAs. 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.5 Publications

GO - Molecular functioni

GO - Biological processi

  • alternative mRNA splicing, via spliceosome Source: MGI
  • embryo development Source: UniProtKB
  • germ cell development Source: UniProtKB
  • mRNA splice site selection Source: Ensembl
  • negative regulation of excitatory postsynaptic potential Source: Ensembl
  • negative regulation of mRNA splicing, via spliceosome Source: Ensembl
  • positive regulation of mRNA splicing, via spliceosome Source: UniProtKB
  • regulation of alternative mRNA splicing, via spliceosome Source: UniProtKB
  • regulation of retina development in camera-type eye Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

mRNA processing, mRNA splicing

Keywords - Ligandi

RNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000101489-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
CUGBP Elav-like family member 4
Short name:
CELF-4
Alternative name(s):
Bruno-like protein 4
CUG-BP- and ETR-3-like factor 4
RNA-binding protein BRUNOL-4
Gene namesi
Name:CELF4
Synonyms:BRUNOL4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:14015. CELF4.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi56853.
OpenTargetsiENSG00000101489.
PharmGKBiPA25428.

Polymorphism and mutation databases

BioMutaiCELF4.
DMDMi74761348.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002952211 – 486CUGBP Elav-like family member 4Add BLAST486

Proteomic databases

PaxDbiQ9BZC1.
PeptideAtlasiQ9BZC1.
PRIDEiQ9BZC1.

PTM databases

iPTMnetiQ9BZC1.
PhosphoSitePlusiQ9BZC1.

Expressioni

Tissue specificityi

Ubiquitous. Strongly expressed in the cerebellum, hippocampus, amygdala, temporal and frontal cortex and frontal lobes.3 Publications

Gene expression databases

BgeeiENSG00000101489.
CleanExiHS_BRUNOL4.
ExpressionAtlasiQ9BZC1. baseline and differential.
GenevisibleiQ9BZC1. HS.

Organism-specific databases

HPAiHPA037986.

Interactioni

Protein-protein interaction databases

BioGridi121213. 2 interactors.
STRINGi9606.ENSP00000355089.

Structurei

Secondary structure

1486
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi54 – 60Combined sources7
Helixi67 – 77Combined sources11
Beta strandi82 – 84Combined sources3
Beta strandi89 – 91Combined sources3
Beta strandi96 – 104Combined sources9
Helixi105 – 115Combined sources11
Turni116 – 118Combined sources3
Beta strandi129 – 132Combined sources4
Beta strandi153 – 158Combined sources6
Helixi165 – 173Combined sources9
Beta strandi178 – 185Combined sources8
Beta strandi189 – 201Combined sources13
Helixi202 – 212Combined sources11
Turni213 – 215Combined sources3
Beta strandi226 – 229Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DGPNMR-A48-141[»]
2DNKNMR-A143-235[»]
ProteinModelPortaliQ9BZC1.
SMRiQ9BZC1.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9BZC1.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini54 – 135RRM 1PROSITE-ProRule annotationAdd BLAST82
Domaini152 – 232RRM 2PROSITE-ProRule annotationAdd BLAST81
Domaini404 – 479RRM 3PROSITE-ProRule annotationAdd BLAST76

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 298Sufficient for RNA-binding and MSE-dependent splicing activityAdd BLAST298
Regioni239 – 258Necessary for TNNT2 exon 5 inclusionAdd BLAST20

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi260 – 310Ala-richAdd BLAST51

Sequence similaritiesi

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

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0146. Eukaryota.
ENOG410XNTW. LUCA.
GeneTreeiENSGT00560000076837.
HOVERGENiHBG107646.
InParanoidiQ9BZC1.
KOiK13207.
OMAiDETATRG.
OrthoDBiEOG091G19O1.
PhylomeDBiQ9BZC1.
TreeFamiTF314924.

Family and domain databases

Gene3Di3.30.70.330. 3 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]
SUPFAMiSSF54928. SSF54928. 3 hits.
PROSITEiPS50102. RRM. 3 hits.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BZC1-1) [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
MYIKMATLAN GQADNASLST NGLGSSPGSA GHMNGLSHSP GNPSTIPMKD
60 70 80 90 100
HDAIKLFIGQ IPRNLDEKDL KPLFEEFGKI YELTVLKDRF TGMHKGCAFL
110 120 130 140 150
TYCERESALK AQSALHEQKT LPGMNRPIQV KPADSESRGG SSCLRQPPSQ
160 170 180 190 200
DRKLFVGMLN KQQSEDDVRR LFEAFGNIEE CTILRGPDGN SKGCAFVKYS
210 220 230 240 250
SHAEAQAAIN ALHGSQTMPG ASSSLVVKFA DTDKERTMRR MQQMAGQMGM
260 270 280 290 300
FNPMAIPFGA YGAYAQALMQ QQAALMASVA QGGYLNPMAA FAAAQMQQMA
310 320 330 340 350
ALNMNGLAAA PMTPTSGGST PPGITAPAVP SIPSPIGVNG FTGLPPQANG
360 370 380 390 400
QPAAEAVFAN GIHPYPAQSP TAADPLQQAY AGVQQYAGPA AYPAAYGQIS
410 420 430 440 450
QAFPQPPPMI PQQQREGPEG CNLFIYHLPQ EFGDAELMQM FLPFGFVSFD
460 470 480
NPASAQTAIQ AMNGFQIGMK RLKVQLKRPK DANRPY
Length:486
Mass (Da):51,966
Last modified:June 1, 2001 - v1
Checksum:i17EA8A6A6752C565
GO
Isoform 2 (identifier: Q9BZC1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     150-151: QD → H
     388-389: GP → A

Show »
Length:484
Mass (Da):51,777
Checksum:iEAB4512456ED8FAA
GO
Isoform 3 (identifier: Q9BZC1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     150-151: QD → H
     268-268: Missing.

Show »
Length:484
Mass (Da):51,747
Checksum:i090258D14ECB73FC
GO
Isoform 4 (identifier: Q9BZC1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     268-268: Missing.

Show »
Length:485
Mass (Da):51,853
Checksum:i430142CAE54F71BB
GO
Isoform 5 (identifier: Q9BZC1-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     140-150: GSSCLRQPPSQ → E
     417-444: Missing.

Show »
Length:448
Mass (Da):47,727
Checksum:iF518F3D37DA1386C
GO

Sequence cautioni

The sequence BAD93011 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti60Q → R in BAC11082 (PubMed:14702039).Curated1
Sequence conflicti166D → E in BAC11082 (PubMed:14702039).Curated1
Sequence conflicti215S → G in BAC11082 (PubMed:14702039).Curated1
Sequence conflicti237T → M in BAC11082 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_052203388G → S.Corresponds to variant rs12458669dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_026828140 – 150GSSCLRQPPSQ → E in isoform 5. 2 PublicationsAdd BLAST11
Alternative sequenceiVSP_026829150 – 151QD → H in isoform 2 and isoform 3. 2 Publications2
Alternative sequenceiVSP_026830268Missing in isoform 3 and isoform 4. 2 Publications1
Alternative sequenceiVSP_026831388 – 389GP → A in isoform 2. 1 Publication2
Alternative sequenceiVSP_026832417 – 444Missing in isoform 5. 2 PublicationsAdd BLAST28

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF329265 mRNA. Translation: AAK07475.1.
AK074596 mRNA. Translation: BAC11082.1.
AB209774 mRNA. Translation: BAD93011.1. Different initiation.
BC001946 mRNA. Translation: AAH01946.2.
BC004167 mRNA. Translation: AAH04167.2.
BC045711 mRNA. Translation: AAH45711.1.
AF248650 mRNA. Translation: AAF86232.1.
AF248651 mRNA. Translation: AAF86233.1.
CCDSiCCDS32818.1. [Q9BZC1-1]
CCDS45856.1. [Q9BZC1-4]
CCDS45857.1. [Q9BZC1-3]
CCDS45858.1. [Q9BZC1-5]
CCDS82250.1. [Q9BZC1-2]
RefSeqiNP_001020258.1. NM_001025087.1. [Q9BZC1-4]
NP_001020259.1. NM_001025088.1. [Q9BZC1-3]
NP_001020260.1. NM_001025089.1. [Q9BZC1-5]
NP_001317532.1. NM_001330603.1.
NP_064565.1. NM_020180.3. [Q9BZC1-1]
UniGeneiHs.435976.
Hs.600908.

Genome annotation databases

EnsembliENST00000334919; ENSP00000335631; ENSG00000101489. [Q9BZC1-5]
ENST00000361795; ENSP00000355089; ENSG00000101489. [Q9BZC1-3]
ENST00000420428; ENSP00000410584; ENSG00000101489. [Q9BZC1-1]
ENST00000591282; ENSP00000464794; ENSG00000101489. [Q9BZC1-1]
ENST00000591287; ENSP00000464917; ENSG00000101489. [Q9BZC1-2]
ENST00000603232; ENSP00000474788; ENSG00000101489. [Q9BZC1-4]
GeneIDi56853.
KEGGihsa:56853.
UCSCiuc002lae.3. human. [Q9BZC1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF329265 mRNA. Translation: AAK07475.1.
AK074596 mRNA. Translation: BAC11082.1.
AB209774 mRNA. Translation: BAD93011.1. Different initiation.
BC001946 mRNA. Translation: AAH01946.2.
BC004167 mRNA. Translation: AAH04167.2.
BC045711 mRNA. Translation: AAH45711.1.
AF248650 mRNA. Translation: AAF86232.1.
AF248651 mRNA. Translation: AAF86233.1.
CCDSiCCDS32818.1. [Q9BZC1-1]
CCDS45856.1. [Q9BZC1-4]
CCDS45857.1. [Q9BZC1-3]
CCDS45858.1. [Q9BZC1-5]
CCDS82250.1. [Q9BZC1-2]
RefSeqiNP_001020258.1. NM_001025087.1. [Q9BZC1-4]
NP_001020259.1. NM_001025088.1. [Q9BZC1-3]
NP_001020260.1. NM_001025089.1. [Q9BZC1-5]
NP_001317532.1. NM_001330603.1.
NP_064565.1. NM_020180.3. [Q9BZC1-1]
UniGeneiHs.435976.
Hs.600908.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DGPNMR-A48-141[»]
2DNKNMR-A143-235[»]
ProteinModelPortaliQ9BZC1.
SMRiQ9BZC1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121213. 2 interactors.
STRINGi9606.ENSP00000355089.

PTM databases

iPTMnetiQ9BZC1.
PhosphoSitePlusiQ9BZC1.

Polymorphism and mutation databases

BioMutaiCELF4.
DMDMi74761348.

Proteomic databases

PaxDbiQ9BZC1.
PeptideAtlasiQ9BZC1.
PRIDEiQ9BZC1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000334919; ENSP00000335631; ENSG00000101489. [Q9BZC1-5]
ENST00000361795; ENSP00000355089; ENSG00000101489. [Q9BZC1-3]
ENST00000420428; ENSP00000410584; ENSG00000101489. [Q9BZC1-1]
ENST00000591282; ENSP00000464794; ENSG00000101489. [Q9BZC1-1]
ENST00000591287; ENSP00000464917; ENSG00000101489. [Q9BZC1-2]
ENST00000603232; ENSP00000474788; ENSG00000101489. [Q9BZC1-4]
GeneIDi56853.
KEGGihsa:56853.
UCSCiuc002lae.3. human. [Q9BZC1-1]

Organism-specific databases

CTDi56853.
DisGeNETi56853.
GeneCardsiCELF4.
HGNCiHGNC:14015. CELF4.
HPAiHPA037986.
MIMi612679. gene.
neXtProtiNX_Q9BZC1.
OpenTargetsiENSG00000101489.
PharmGKBiPA25428.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0146. Eukaryota.
ENOG410XNTW. LUCA.
GeneTreeiENSGT00560000076837.
HOVERGENiHBG107646.
InParanoidiQ9BZC1.
KOiK13207.
OMAiDETATRG.
OrthoDBiEOG091G19O1.
PhylomeDBiQ9BZC1.
TreeFamiTF314924.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000101489-MONOMER.

Miscellaneous databases

ChiTaRSiCELF4. human.
EvolutionaryTraceiQ9BZC1.
GeneWikiiBRUNOL4.
GenomeRNAii56853.
PROiQ9BZC1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000101489.
CleanExiHS_BRUNOL4.
ExpressionAtlasiQ9BZC1. baseline and differential.
GenevisibleiQ9BZC1. HS.

Family and domain databases

Gene3Di3.30.70.330. 3 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]
SUPFAMiSSF54928. SSF54928. 3 hits.
PROSITEiPS50102. RRM. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCELF4_HUMAN
AccessioniPrimary (citable) accession number: Q9BZC1
Secondary accession number(s): Q59EN7
, Q86XB9, Q8N2M6, Q9BQ96, Q9NR84, Q9NR85
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: June 1, 2001
Last modified: November 30, 2016
This is version 132 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 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.