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Q96J87

- CELF6_HUMAN

UniProt

Q96J87 - CELF6_HUMAN

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Protein

CUGBP Elav-like family member 6

Gene

CELF6

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. nucleotide binding Source: InterPro
  2. RNA binding Source: UniProtKB

GO - Biological processi

  1. mRNA processing Source: UniProtKB-KW
  2. 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
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:14059. CELF6.

Subcellular locationi

Nucleus By similarity. Cytoplasm By similarity

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25430.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 481481CUGBP Elav-like family member 6PRO_0000295229Add
BLAST

Proteomic databases

PaxDbiQ96J87.
PRIDEiQ96J87.

PTM databases

PhosphoSiteiQ96J87.

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

BgeeiQ96J87.
CleanExiHS_BRUNOL6.
ExpressionAtlasiQ96J87. baseline.
GenevestigatoriQ96J87.

Organism-specific databases

HPAiHPA046985.
HPA053526.

Structurei

Secondary structure

1
481
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi47 – 504
Helixi59 – 668
Turni67 – 693
Beta strandi72 – 798
Beta strandi81 – 833
Beta strandi86 – 9611
Helixi97 – 10711
Turni108 – 1103
Beta strandi122 – 1243

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2DGQNMR-A38-132[»]
ProteinModelPortaliQ96J87.
SMRiQ96J87. Positions 31-217, 388-472.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96J87.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini46 – 12782RRM 1PROSITE-ProRule annotationAdd
BLAST
Domaini134 – 21481RRM 2PROSITE-ProRule annotationAdd
BLAST
Domaini396 – 47479RRM 3PROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi242 – 29554Ala-richAdd
BLAST

Sequence similaritiesi

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

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiNOG251494.
GeneTreeiENSGT00560000076837.
HOGENOMiHOG000004754.
HOVERGENiHBG107646.
InParanoidiQ96J87.
KOiK13207.
OMAiMQHVAAF.
OrthoDBiEOG7DVDBR.
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]
PROSITEiPS50102. RRM. 3 hits.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti2 – 21A → T in AAH30835. (PubMed:15489334)Curated
Sequence conflicti469 – 4691V → A in AAH30835. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti152 – 1521R → P.
Corresponds to variant rs34566074 [ dbSNP | Ensembl ].
VAR_033265

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 115115Missing in isoform 4. 1 PublicationVSP_043242Add
BLAST
Alternative sequencei1 – 113113Missing in isoform 2. 2 PublicationsVSP_026847Add
BLAST
Alternative sequencei114 – 13118PGMNR…SEGRG → MISDPPSNNSWNSVLYLL in isoform 2. 2 PublicationsVSP_026848Add
BLAST
Alternative sequencei292 – 2921Missing in isoform 4. 1 PublicationVSP_043243
Alternative sequencei344 – 36421Missing in isoform 4. 1 PublicationVSP_043244Add
BLAST
Alternative sequencei365 – 39127Missing in isoform 3. 1 PublicationVSP_043245Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.2. human. [Q96J87-1]
uc002auj.2. human. [Q96J87-2]
uc010ukl.1. human. [Q96J87-4]
uc010ukm.1. human. [Q96J87-3]

Polymorphism databases

DMDMi74760888.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS10242.1. [Q96J87-1 ]
CCDS53955.1. [Q96J87-4 ]
CCDS53956.1. [Q96J87-3 ]
RefSeqi NP_001166155.1. NM_001172684.1. [Q96J87-3 ]
NP_001166156.1. NM_001172685.1. [Q96J87-4 ]
NP_443072.3. NM_052840.4. [Q96J87-1 ]
UniGenei Hs.348342.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2DGQ NMR - A 38-132 [» ]
ProteinModelPortali Q96J87.
SMRi Q96J87. Positions 31-217, 388-472.
ModBasei Search...
MobiDBi Search...

PTM databases

PhosphoSitei Q96J87.

Polymorphism databases

DMDMi 74760888.

Proteomic databases

PaxDbi Q96J87.
PRIDEi Q96J87.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000287202 ; ENSP00000287202 ; ENSG00000140488 . [Q96J87-1 ]
ENST00000395258 ; ENSP00000378677 ; ENSG00000140488 . [Q96J87-2 ]
ENST00000543764 ; ENSP00000439956 ; ENSG00000140488 . [Q96J87-4 ]
ENST00000567083 ; ENSP00000457863 ; ENSG00000140488 . [Q96J87-3 ]
GeneIDi 60677.
KEGGi hsa:60677.
UCSCi uc002auh.2. human. [Q96J87-1 ]
uc002auj.2. human. [Q96J87-2 ]
uc010ukl.1. human. [Q96J87-4 ]
uc010ukm.1. human. [Q96J87-3 ]

Organism-specific databases

CTDi 60677.
GeneCardsi GC15M072559.
GC15M072577.
H-InvDB HIX0012406.
HGNCi HGNC:14059. CELF6.
HPAi HPA046985.
HPA053526.
MIMi 612681. gene.
neXtProti NX_Q96J87.
PharmGKBi PA25430.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG251494.
GeneTreei ENSGT00560000076837.
HOGENOMi HOG000004754.
HOVERGENi HBG107646.
InParanoidi Q96J87.
KOi K13207.
OMAi MQHVAAF.
OrthoDBi EOG7DVDBR.
PhylomeDBi Q96J87.
TreeFami TF314924.

Miscellaneous databases

EvolutionaryTracei Q96J87.
GenomeRNAii 60677.
NextBioi 65492.
PROi Q96J87.
SOURCEi Search...

Gene expression databases

Bgeei Q96J87.
CleanExi HS_BRUNOL6.
ExpressionAtlasi Q96J87. baseline.
Genevestigatori Q96J87.

Family and domain databases

Gene3Di 3.30.70.330. 3 hits.
InterProi IPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
[Graphical view ]
Pfami PF00076. RRM_1. 3 hits.
[Graphical view ]
SMARTi SM00360. RRM. 3 hits.
[Graphical view ]
PROSITEi PS50102. RRM. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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.

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: October 29, 2014
This is version 114 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

External Data

Dasty 3