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Protein

CUGBP Elav-like family member 4

Gene

CELF4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • BRE binding Source: UniProtKB
  • mRNA binding Source: Ensembl
  • pre-mRNA binding Source: UniProtKB
  • translation repressor activity, mRNA regulatory element binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionActivator, RNA-binding
Biological processmRNA processing, mRNA splicing

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

EuPathDBiHostDB:ENSG00000101489.19
HGNCiHGNC:14015 CELF4
MIMi612679 gene
neXtProtiNX_Q9BZC1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
ProteomicsDBi79804
79805 [Q9BZC1-2]
79806 [Q9BZC1-3]
79807 [Q9BZC1-4]
79808 [Q9BZC1-5]

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
IntActiQ9BZC1, 4 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

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

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0146 Eukaryota
ENOG410XNTW LUCA
GeneTreeiENSGT00560000076837
HOVERGENiHBG107646
InParanoidiQ9BZC1
KOiK13207
OMAiHYPVLQE
OrthoDBiEOG091G19O1
PhylomeDBiQ9BZC1
TreeFamiTF314924

Family and domain databases

CDDicd12632 RRM1_CELF3_4_5_6, 1 hit
Gene3Di3.30.70.330, 3 hits
InterProiView protein in InterPro
IPR034648 CELF3/4/5/6_RRM1
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR035979 RBD_domain_sf
IPR000504 RRM_dom
PfamiView protein in Pfam
PF00076 RRM_1, 3 hits
SMARTiView protein in SMART
SM00360 RRM, 3 hits
SUPFAMiSSF54928 SSF54928, 3 hits
PROSITEiView protein in PROSITE
PS50102 RRM, 3 hits

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 dbSNP:rs12458669Ensembl.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 [Q9BZC1-2]
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

Similar proteinsi

Entry informationi

Entry nameiCELF4_HUMAN
AccessioniPrimary (citable) accession number: Q9BZC1
Secondary accession number(s): Q59EN7
, Q86XB9, Q8N2M6, Q9BQ96, Q9NR84, Q9NR85
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: June 1, 2001
Last modified: July 18, 2018
This is version 145 of the entry and version 1 of the sequence. See 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

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