Reviewed,
UniProtKB/Swiss-Prot Q96J87 (CELF6_HUMAN)
Last modified
December 15, 2009.
Version 68.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
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Names and origin
| Protein names | Recommended name: CUG-BP- and ETR-3-like factor 6 Short name=CELF-6 Alternative name(s): Bruno-like protein 6 RNA-binding protein BRUNOL-6 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 481 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence 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.5 |
| Subcellular location | |
| Tissue specificity | Expressed mainly in kidney, brain and testis and present in other tissues albeit at lower levels. Also expressed in fetal kidney. Ref.5 |
| Sequence similarities | Belongs to the CELF/BRUNOL family. Contains 3 RRM (RNA recognition motif) domains. |
Ontologies
| Keywords | |
|---|---|
| Biological process | mRNA processing |
| Cellular component | Cytoplasm Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat |
| Ligand | RNA-binding |
| Technical term | 3D-structure Complete proteome |
| Gene Ontology (GO) | |
| Biological process | mRNA processing Inferred from electronic annotation. Source: UniProtKB-KW regulation of alternative nuclear mRNA splicing, via spliceosome Ref.5Inferred from direct assay. Source: UniProtKB |
| Cellular component | cytoplasm Ref.5 Non-traceable author statement. Source: UniProtKB nucleus Ref.5Non-traceable author statement. Source: UniProtKB |
| Molecular function | RNA binding Ref.5 Non-traceable author statement. Source: UniProtKB nucleotide bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 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 |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||||
Molecule processing | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 481 | 481 | CUG-BP- and ETR-3-like factor 6 | PRO_0000295229 | |||||||||||||||
Regions | |||||||||||||||||||
| Domain | 46 – 127 | 82 | RRM 1 | ||||||||||||||||
| Domain | 134 – 214 | 81 | RRM 2 | ||||||||||||||||
| Domain | 396 – 474 | 79 | RRM 3 | ||||||||||||||||
| Compositional bias | 242 – 295 | 54 | Ala-rich | ||||||||||||||||
Natural variations | |||||||||||||||||||
| Alternative sequence | 1 – 113 | 113 | Missing in isoform 2. | VSP_026847 | |||||||||||||||
| Alternative sequence | 114 – 131 | 18 | PGMNR…SEGRG → MISDPPSNNSWNSVLYLL in isoform 2. | VSP_026848 | |||||||||||||||
| Natural variant | 152 | 1 | R → P: dbSNP rs34566074. | VAR_033265 | |||||||||||||||
Experimental info | |||||||||||||||||||
| Sequence conflict | 2 | 1 | A → T in AAH30835. Ref.4 | ||||||||||||||||
| Sequence conflict | 469 | 1 | V → A in AAH30835. Ref.4 | ||||||||||||||||
Secondary structure | |||||||||||||||||||
Helix Strand Turn | |||||||||||||||||||
| Beta strand | 47 – 50 | 4 | |||||||||||||||||
| Helix | 59 – 66 | 8 | |||||||||||||||||
| Beta strand | 72 – 79 | 8 | |||||||||||||||||
| Beta strand | 89 – 96 | 8 | |||||||||||||||||
| Helix | 97 – 107 | 11 | |||||||||||||||||
| Turn | 108 – 110 | 3 | |||||||||||||||||
Sequences
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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: 10893231] [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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Spleen. |
| [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Brain. |
| [5] | "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: 14761971] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY. |
| [6] | "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. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AF401233 mRNA. Translation: AAK95615.1. AF425606 mRNA. Translation: AAL34513.1. AK131098 mRNA. Translation: BAC85148.1. Different initiation. BC030835 mRNA. Translation: AAH30835.1. BC033838 mRNA. Translation: AAH33838.1. | |||||||||||||
| IPI | IPI00171103. IPI00793692. | ||||||||||||
| RefSeq | NP_443072.3. | ||||||||||||
| UniGene | Hs.348342 | ||||||||||||
3D structure databases | |||||||||||||
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| ModBase | Search... | ||||||||||||
Proteomic databases | |||||||||||||
| PRIDE | Q96J87. | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000287202; ENSP00000287202; ENSG00000140488; Homo sapiens. [Genome view] | ||||||||||||
| GeneID | 60677. | ||||||||||||
| KEGG | hsa:60677. | ||||||||||||
| UCSC | uc002auh.1. human. uc002aui.1. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 60677. | ||||||||||||
| GeneCards | GC15M070364. | ||||||||||||
| HGNC | HGNC:14059. BRUNOL6. | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| HOGENOM | HBG619732. | ||||||||||||
| HOVERGEN | Q96J87. | ||||||||||||
| InParanoid | Q96J87. | ||||||||||||
| OMA | GHIEECT. | ||||||||||||
| OrthoDB | EOG9V19KN. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | Q96J87. | ||||||||||||
| Bgee | Q96J87. | ||||||||||||
| CleanEx | HS_BRUNOL6. | ||||||||||||
| Genevestigator | Q96J87. | ||||||||||||
Family and domain databases | |||||||||||||
| InterPro | IPR012677. a_b_plait_nuc_bd. IPR015903. RNP_BRUNO-like. IPR000504. RRM_RNP1. [Graphical view] | ||||||||||||
| Gene3D | G3DSA:3.30.70.330. a_b_plait_nuc_bd. 3 hits. | ||||||||||||
| PANTHER | PTHR10432:SF35. RNP_BRUNO-like. 1 hit. | ||||||||||||
| 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 Resources | |||||||||||||
| NextBio | 65492. | ||||||||||||
Entry information
| Entry name | CELF6_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96J87 Secondary accession number(s): Q6PII4, Q6ZNJ7, Q8N607 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| 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. | ||||||||
Relevant documents
| Human chromosome 15 Human chromosome 15: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

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