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Q96J87 (CELF6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 110. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:CELF6
Synonyms:BRUNOL6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length481 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.6

Subcellular location

Nucleus By similarity. Cytoplasm By similarity.

Tissue specificity

Expressed mainly in kidney, brain and testis and present in other tissues albeit at lower levels. Also expressed in fetal kidney. Ref.6

Sequence similarities

Belongs to the CELF/BRUNOL family.

Contains 3 RRM (RNA recognition motif) domains.

Sequence caution

The sequence BAC85148.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Biological processmRNA processing
   Cellular componentCytoplasm
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
   LigandRNA-binding
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processmRNA processing

Inferred from electronic annotation. Source: UniProtKB-KW

regulation of alternative mRNA splicing, via spliceosome

Inferred from direct assay Ref.6. Source: UniProtKB

   Cellular_componentcytoplasm

Non-traceable author statement Ref.6. Source: UniProtKB

nucleus

Non-traceable author statement Ref.6. Source: UniProtKB

   Molecular_functionRNA binding

Non-traceable author statement Ref.6. Source: UniProtKB

nucleotide binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96J87-1)

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: Q96J87-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-113: Missing.
     114-131: PGMNRPIQVKPAASEGRG → MISDPPSNNSWNSVLYLL
Isoform 3 (identifier: Q96J87-3)

The sequence of this isoform differs from the canonical sequence as follows:
     365-391: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q96J87-4)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 481481CUGBP Elav-like family member 6
PRO_0000295229

Regions

Domain46 – 12782RRM 1
Domain134 – 21481RRM 2
Domain396 – 47479RRM 3
Compositional bias242 – 29554Ala-rich

Natural variations

Alternative sequence1 – 115115Missing in isoform 4.
VSP_043242
Alternative sequence1 – 113113Missing in isoform 2.
VSP_026847
Alternative sequence114 – 13118PGMNR…SEGRG → MISDPPSNNSWNSVLYLL in isoform 2.
VSP_026848
Alternative sequence2921Missing in isoform 4.
VSP_043243
Alternative sequence344 – 36421Missing in isoform 4.
VSP_043244
Alternative sequence365 – 39127Missing in isoform 3.
VSP_043245
Natural variant1521R → P.
Corresponds to variant rs34566074 [ dbSNP | Ensembl ].
VAR_033265

Experimental info

Sequence conflict21A → T in AAH30835. Ref.5
Sequence conflict4691V → A in AAH30835. Ref.5

Secondary structure

................ 481
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: E11AF3BF1E7FC7A5

FASTA48150,477
        10         20         30         40         50         60 
MAAAPGGSAQ PAGPGPRLGF STADSGVGMS GLNPGPAVPM KDHDAIKLFV GQIPRGLDEQ 

        70         80         90        100        110        120 
DLKPLFEEFG RIYELTVLKD RLTGLHKGCA FLTYCARDSA LKAQSALHEQ KTLPGMNRPI 

       130        140        150        160        170        180 
QVKPAASEGR GEDRKLFVGM LGKQQGEEDV RRLFQPFGHI EECTVLRSPD GTSKGCAFVK 

       190        200        210        220        230        240 
FGSQGEAQAA IRGLHGSRTM AGASSSLVVK LADTDRERAL RRMQQMAGHL GAFHPAPLPL 

       250        260        270        280        290        300 
GACGAYTTAI LQHQAALLAA AQGPGLGPVA AVAAQMQHVA AFSLVAAPLL PAAAANSPPG 

       310        320        330        340        350        360 
SGPGTLPGLP APIGVNGFGP LTPQTNGQPG SDTLYNNGLS PYPAQSPGVA DPLQQAYAGM 

       370        380        390        400        410        420 
HHYAAAYPSA YAPVSTAFPQ QPSALPQQQR EGPEGCNLFI YHLPQEFGDA ELIQTFLPFG 

       430        440        450        460        470        480 
AVVSAKVFVD RATNQSKCFG FVSFDNPTSA QTAIQAMNGF QIGMKRLKVQ LKRPKDANRP 


Y 

« Hide

Isoform 2 [UniParc].

Checksum: D42E182AFE072BBC
Show »

FASTA36838,759
Isoform 3 [UniParc].

Checksum: 9885B9F4E8D3D22D
Show »

FASTA45447,590
Isoform 4 [UniParc].

Checksum: CBBF9489DF77786D
Show »

FASTA34436,154

References

« Hide 'large scale' references
[1]"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] (ISOFORM 1).
Tissue: Frontal cortex.
[2]"Characterization of the ELAV/BRUNO/TIA superfamily."
Bozzali M., Quattrone S., Quattrone A.
Submitted (SEP-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3 AND 4).
Tissue: Amygdala, Spleen and Subthalamic nucleus.
[4]"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. expand/collapse author list , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
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 AND 2).
Tissue: Brain.
[6]"CELF6, a member of the CELF family of RNA-binding proteins, regulates muscle-specific splicing enhancer-dependent alternative splicing."
Ladd A.N., Nguyen N.H., Malhotra K., Cooper T.A.
J. Biol. Chem. 279:17756-17764(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, TISSUE SPECIFICITY.
[7]"Solution structure of the N-terminal RNA binding domain in Bruno-like 6 RNA-binding protein."
RIKEN structural genomics initiative (RSGI)
Submitted (SEP-2006) to the PDB data bank
Cited for: STRUCTURE BY NMR OF 31-132.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001166155.1. NM_001172684.1.
NP_001166156.1. NM_001172685.1.
NP_443072.3. NM_052840.4.
UniGeneHs.348342.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2DGQNMR-A38-132[»]
ProteinModelPortalQ96J87.
SMRQ96J87. Positions 31-217, 388-472.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ96J87.

Polymorphism databases

DMDM74760888.

Proteomic databases

PaxDbQ96J87.
PRIDEQ96J87.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000287202; ENSP00000287202; ENSG00000140488. [Q96J87-1]
ENST00000395258; ENSP00000378677; ENSG00000140488. [Q96J87-2]
ENST00000543764; ENSP00000439956; ENSG00000140488. [Q96J87-4]
ENST00000567083; ENSP00000457863; ENSG00000140488. [Q96J87-3]
GeneID60677.
KEGGhsa:60677.
UCSCuc002auh.2. human. [Q96J87-1]
uc002auj.2. human. [Q96J87-2]
uc010ukl.1. human. [Q96J87-4]
uc010ukm.1. human. [Q96J87-3]

Organism-specific databases

CTD60677.
GeneCardsGC15M072577.
H-InvDBHIX0012406.
HGNCHGNC:14059. CELF6.
HPAHPA046985.
HPA053526.
MIM612681. gene.
neXtProtNX_Q96J87.
PharmGKBPA25430.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG251494.
HOGENOMHOG000004754.
HOVERGENHBG107646.
InParanoidQ96J87.
KOK13207.
OMAKFGSQGE.
OrthoDBEOG7DVDBR.
PhylomeDBQ96J87.
TreeFamTF314924.

Gene expression databases

BgeeQ96J87.
CleanExHS_BRUNOL6.
GenevestigatorQ96J87.

Family and domain databases

Gene3D3.30.70.330. 3 hits.
InterProIPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
[Graphical view]
PfamPF00076. RRM_1. 3 hits.
[Graphical view]
SMARTSM00360. RRM. 3 hits.
[Graphical view]
PROSITEPS50102. RRM. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ96J87.
GenomeRNAi60677.
NextBio65492.
PROQ96J87.
SOURCESearch...

Entry information

Entry nameCELF6_HUMAN
AccessionPrimary (citable) accession number: Q96J87
Secondary accession number(s): B4DG28 expand/collapse secondary AC list , B4DJB6, Q6PII4, Q6ZNJ7, Q8N607
Entry history
Integrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: December 1, 2001
Last modified: April 16, 2014
This is version 110 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM