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Protein

CUGBP Elav-like family member 6

Gene

CELF6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 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 TNNT2 in a muscle-specific splicing enhancer (MSE)-dependent manner. Promotes also exon exclusion of INSR pre-mRNA.1 Publication

GO - Molecular functioni

  • nucleotide binding Source: InterPro
  • RNA binding Source: UniProtKB

GO - Biological processi

  • mRNA processing Source: UniProtKB-KW
  • regulation of alternative mRNA splicing, via spliceosome Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

mRNA processing

Keywords - Ligandi

RNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
CUGBP Elav-like family member 6
Short name:
CELF-6
Alternative name(s):
Bruno-like protein 6
CUG-BP- and ETR-3-like factor 6
RNA-binding protein BRUNOL-6
Gene namesi
Name:CELF6
Synonyms:BRUNOL6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:14059. CELF6.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi60677.
OpenTargetsiENSG00000140488.
ENSG00000273025.
PharmGKBiPA25430.

Polymorphism and mutation databases

BioMutaiCELF6.
DMDMi74760888.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002952291 – 481CUGBP Elav-like family member 6Add BLAST481

Proteomic databases

PaxDbiQ96J87.
PeptideAtlasiQ96J87.
PRIDEiQ96J87.

PTM databases

iPTMnetiQ96J87.
PhosphoSitePlusiQ96J87.

Expressioni

Tissue specificityi

Expressed mainly in kidney, brain and testis and present in other tissues albeit at lower levels. Also expressed in fetal kidney.1 Publication

Gene expression databases

BgeeiENSG00000140488.
CleanExiHS_BRUNOL6.
ExpressionAtlasiQ96J87. baseline and differential.
GenevisibleiQ96J87. HS.

Organism-specific databases

HPAiHPA046985.
HPA053526.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000287202.

Structurei

Secondary structure

1481
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi47 – 50Combined sources4
Helixi59 – 66Combined sources8
Turni67 – 69Combined sources3
Beta strandi72 – 79Combined sources8
Beta strandi81 – 83Combined sources3
Beta strandi86 – 96Combined sources11
Helixi97 – 107Combined sources11
Turni108 – 110Combined sources3
Beta strandi122 – 124Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DGQNMR-A38-132[»]
ProteinModelPortaliQ96J87.
SMRiQ96J87.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96J87.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini46 – 127RRM 1PROSITE-ProRule annotationAdd BLAST82
Domaini134 – 214RRM 2PROSITE-ProRule annotationAdd BLAST81
Domaini396 – 474RRM 3PROSITE-ProRule annotationAdd BLAST79

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi242 – 295Ala-richAdd BLAST54

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.
HOGENOMiHOG000004754.
HOVERGENiHBG107646.
InParanoidiQ96J87.
KOiK13207.
OMAiHLGAFHP.
OrthoDBiEOG091G19O1.
PhylomeDBiQ96J87.
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 (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96J87-1) [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
MAAAPGGSAQ PAGPGPRLGF STADSGVGMS GLNPGPAVPM KDHDAIKLFV
60 70 80 90 100
GQIPRGLDEQ DLKPLFEEFG RIYELTVLKD RLTGLHKGCA FLTYCARDSA
110 120 130 140 150
LKAQSALHEQ KTLPGMNRPI QVKPAASEGR GEDRKLFVGM LGKQQGEEDV
160 170 180 190 200
RRLFQPFGHI EECTVLRSPD GTSKGCAFVK FGSQGEAQAA IRGLHGSRTM
210 220 230 240 250
AGASSSLVVK LADTDRERAL RRMQQMAGHL GAFHPAPLPL GACGAYTTAI
260 270 280 290 300
LQHQAALLAA AQGPGLGPVA AVAAQMQHVA AFSLVAAPLL PAAAANSPPG
310 320 330 340 350
SGPGTLPGLP APIGVNGFGP LTPQTNGQPG SDTLYNNGLS PYPAQSPGVA
360 370 380 390 400
DPLQQAYAGM HHYAAAYPSA YAPVSTAFPQ QPSALPQQQR EGPEGCNLFI
410 420 430 440 450
YHLPQEFGDA ELIQTFLPFG AVVSAKVFVD RATNQSKCFG FVSFDNPTSA
460 470 480
QTAIQAMNGF QIGMKRLKVQ LKRPKDANRP Y
Length:481
Mass (Da):50,477
Last modified:December 1, 2001 - v1
Checksum:iE11AF3BF1E7FC7A5
GO
Isoform 2 (identifier: Q96J87-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-113: Missing.
     114-131: PGMNRPIQVKPAASEGRG → MISDPPSNNSWNSVLYLL

Show »
Length:368
Mass (Da):38,759
Checksum:iD42E182AFE072BBC
GO
Isoform 3 (identifier: Q96J87-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     365-391: Missing.

Note: No experimental confirmation available.
Show »
Length:454
Mass (Da):47,590
Checksum:i9885B9F4E8D3D22D
GO
Isoform 4 (identifier: Q96J87-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-115: Missing.
     292-292: Missing.
     344-364: Missing.

Note: No experimental confirmation available.
Show »
Length:344
Mass (Da):36,154
Checksum:iCBBF9489DF77786D
GO

Sequence cautioni

The sequence BAC85148 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti2A → T in AAH30835 (PubMed:15489334).Curated1
Sequence conflicti469V → A in AAH30835 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033265152R → P.Corresponds to variant rs34566074dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0432421 – 115Missing in isoform 4. 1 PublicationAdd BLAST115
Alternative sequenceiVSP_0268471 – 113Missing in isoform 2. 2 PublicationsAdd BLAST113
Alternative sequenceiVSP_026848114 – 131PGMNR…SEGRG → MISDPPSNNSWNSVLYLL in isoform 2. 2 PublicationsAdd BLAST18
Alternative sequenceiVSP_043243292Missing in isoform 4. 1 Publication1
Alternative sequenceiVSP_043244344 – 364Missing in isoform 4. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_043245365 – 391Missing in isoform 3. 1 PublicationAdd BLAST27

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF401233 mRNA. Translation: AAK95615.1.
AF425606 mRNA. Translation: AAL34513.1.
AK131098 mRNA. Translation: BAC85148.1. Different initiation.
AK294382 mRNA. Translation: BAG57639.1.
AK296004 mRNA. Translation: BAG58778.1.
AC009690 Genomic DNA. No translation available.
BC030835 mRNA. Translation: AAH30835.1.
BC033838 mRNA. Translation: AAH33838.1.
CCDSiCCDS10242.1. [Q96J87-1]
CCDS53955.1. [Q96J87-4]
CCDS53956.1. [Q96J87-3]
RefSeqiNP_001166155.1. NM_001172684.1. [Q96J87-3]
NP_001166156.1. NM_001172685.1. [Q96J87-4]
NP_443072.3. NM_052840.4. [Q96J87-1]
UniGeneiHs.348342.

Genome annotation databases

EnsembliENST00000287202; ENSP00000287202; ENSG00000140488. [Q96J87-1]
ENST00000395258; ENSP00000378677; ENSG00000140488. [Q96J87-2]
ENST00000543764; ENSP00000439956; ENSG00000140488. [Q96J87-4]
ENST00000567083; ENSP00000457863; ENSG00000140488. [Q96J87-3]
GeneIDi60677.
KEGGihsa:60677.
UCSCiuc002auh.3. human. [Q96J87-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF401233 mRNA. Translation: AAK95615.1.
AF425606 mRNA. Translation: AAL34513.1.
AK131098 mRNA. Translation: BAC85148.1. Different initiation.
AK294382 mRNA. Translation: BAG57639.1.
AK296004 mRNA. Translation: BAG58778.1.
AC009690 Genomic DNA. No translation available.
BC030835 mRNA. Translation: AAH30835.1.
BC033838 mRNA. Translation: AAH33838.1.
CCDSiCCDS10242.1. [Q96J87-1]
CCDS53955.1. [Q96J87-4]
CCDS53956.1. [Q96J87-3]
RefSeqiNP_001166155.1. NM_001172684.1. [Q96J87-3]
NP_001166156.1. NM_001172685.1. [Q96J87-4]
NP_443072.3. NM_052840.4. [Q96J87-1]
UniGeneiHs.348342.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DGQNMR-A38-132[»]
ProteinModelPortaliQ96J87.
SMRiQ96J87.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000287202.

PTM databases

iPTMnetiQ96J87.
PhosphoSitePlusiQ96J87.

Polymorphism and mutation databases

BioMutaiCELF6.
DMDMi74760888.

Proteomic databases

PaxDbiQ96J87.
PeptideAtlasiQ96J87.
PRIDEiQ96J87.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000287202; ENSP00000287202; ENSG00000140488. [Q96J87-1]
ENST00000395258; ENSP00000378677; ENSG00000140488. [Q96J87-2]
ENST00000543764; ENSP00000439956; ENSG00000140488. [Q96J87-4]
ENST00000567083; ENSP00000457863; ENSG00000140488. [Q96J87-3]
GeneIDi60677.
KEGGihsa:60677.
UCSCiuc002auh.3. human. [Q96J87-1]

Organism-specific databases

CTDi60677.
DisGeNETi60677.
GeneCardsiCELF6.
H-InvDBHIX0012406.
HGNCiHGNC:14059. CELF6.
HPAiHPA046985.
HPA053526.
MIMi612681. gene.
neXtProtiNX_Q96J87.
OpenTargetsiENSG00000140488.
ENSG00000273025.
PharmGKBiPA25430.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0146. Eukaryota.
ENOG410XNTW. LUCA.
GeneTreeiENSGT00560000076837.
HOGENOMiHOG000004754.
HOVERGENiHBG107646.
InParanoidiQ96J87.
KOiK13207.
OMAiHLGAFHP.
OrthoDBiEOG091G19O1.
PhylomeDBiQ96J87.
TreeFamiTF314924.

Miscellaneous databases

ChiTaRSiCELF6. human.
EvolutionaryTraceiQ96J87.
GenomeRNAii60677.
PROiQ96J87.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000140488.
CleanExiHS_BRUNOL6.
ExpressionAtlasiQ96J87. baseline and differential.
GenevisibleiQ96J87. 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 nameiCELF6_HUMAN
AccessioniPrimary (citable) accession number: Q96J87
Secondary accession number(s): B4DG28
, B4DJB6, Q6PII4, Q6ZNJ7, Q8N607
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: December 1, 2001
Last modified: November 2, 2016
This is version 131 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 15
    Human chromosome 15: 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.