Q96J87 (CELF6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	CELF6
Synonyms:	BRUNOL6

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	481 AA.
Sequence status	Complete.
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.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 process	mRNA processing
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat
Ligand	RNA-binding
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	mRNA processing Inferred from electronic annotation. Source: UniProtKB-KW regulation of alternative mRNA splicing, via spliceosome Inferred from direct assay Ref.6. Source: UniProtKB
Cellular_component	cytoplasm Non-traceable author statement Ref.6. Source: UniProtKB nucleus Non-traceable author statement Ref.6. Source: UniProtKB
Molecular_function	RNA 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 key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 481

481

CUGBP Elav-like family member 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 – 115

115

Missing in isoform 4.

VSP_043242

Alternative sequence

1 – 113

113

Missing in isoform 2.

VSP_026847

Alternative sequence

114 – 131

18

PGMNR…SEGRG → MISDPPSNNSWNSVLYLL in isoform 2.

VSP_026848

Alternative sequence

292

1

Missing in isoform 4.

VSP_043243

Alternative sequence

344 – 364

21

Missing in isoform 4.

VSP_043244

Alternative sequence

365 – 391

27

Missing in isoform 3.

VSP_043245

Natural variant

152

1

R → P.
Corresponds to variant rs34566074 [ dbSNP | Ensembl ].

VAR_033265

Experimental info

Sequence conflict

2

1

A → T in AAH30835. Ref.5

Sequence conflict

469

1

V → A in AAH30835. Ref.5

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

481

Helix Strand Turn

Details...

Beta strand

47 – 50

4

Helix

59 – 66

8

Turn

67 – 69

3

Beta strand

72 – 79

8

Beta strand

81 – 83

3

Beta strand

86 – 96

11

Helix

97 – 107

11

Turn

108 – 110

3

Beta strand

122 – 124

3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: E11AF3BF1E7FC7A5	FASTA	481	50,477
	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
	Isoform 2 [UniParc]. Checksum: D42E182AFE072BBC	FASTA	368	38,759
	10 20 30 40 50 60 MISDPPSNNS WNSVLYLLED RKLFVGMLGK QQGEEDVRRL FQPFGHIEEC TVLRSPDGTS 70 80 90 100 110 120 KGCAFVKFGS QGEAQAAIRG LHGSRTMAGA SSSLVVKLAD TDRERALRRM QQMAGHLGAF 130 140 150 160 170 180 HPAPLPLGAC GAYTTAILQH QAALLAAAQG PGLGPVAAVA AQMQHVAAFS LVAAPLLPAA 190 200 210 220 230 240 AANSPPGSGP GTLPGLPAPI GVNGFGPLTP QTNGQPGSDT LYNNGLSPYP AQSPGVADPL 250 260 270 280 290 300 QQAYAGMHHY AAAYPSAYAP VSTAFPQQPS ALPQQQREGP EGCNLFIYHL PQEFGDAELI 310 320 330 340 350 360 QTFLPFGAVV SAKVFVDRAT NQSKCFGFVS FDNPTSAQTA IQAMNGFQIG MKRLKVQLKR PKDANRPY
	Isoform 3 [UniParc]. Checksum: 9885B9F4E8D3D22D	FASTA	454	47,590
	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 HHYAGPEGCN LFIYHLPQEF GDAELIQTFL PFGAVVSAKV FVDRATNQSK CFGFVSFDNP 430 440 450 TSAQTAIQAM NGFQIGMKRL KVQLKRPKDA NRPY
	Isoform 4 [UniParc]. Checksum: CBBF9489DF77786D	FASTA	344	36,154
	10 20 30 40 50 60 MNRPIQVKPA ASEGRGEDRK LFVGMLGKQQ GEEDVRRLFQ PFGHIEECTV LRSPDGTSKG 70 80 90 100 110 120 CAFVKFGSQG EAQAAIRGLH GSRTMAGASS SLVVKLADTD RERALRRMQQ MAGHLGAFHP 130 140 150 160 170 180 APLPLGACGA YTTAILQHQA ALLAAAQGPG LGPVAAVAAQ MQHVAAFSLV AAPLLPAAAN 190 200 210 220 230 240 SPPGSGPGTL PGLPAPIGVN GFGPLTPQTN GQPGSDTLYN NGLSPYPAAY PSAYAPVSTA 250 260 270 280 290 300 FPQQPSALPQ QQREGPEGCN LFIYHLPQEF GDAELIQTFL PFGAVVSAKV FVDRATNQSK 310 320 330 340 CFGFVSFDNP TSAQTAIQAM NGFQIGMKRL KVQLKRPKDA NRPY

References

	« Hide 'large scale' referencesShow '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. , 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.

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.

IPI

IPI00171103.
IPI00793692.
IPI00909307.
IPI00922660.

RefSeq

NP_001166155.1. NM_001172684.1.
NP_001166156.1. NM_001172685.1.
NP_443072.3. NM_052840.4.

UniGene

Hs.348342.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2DGQ	NMR	-	A	38-132	[»]

ProteinModelPortal

Q96J87.

ModBase

Search...

PTM databases

PhosphoSite

Q96J87.

Polymorphism databases

DMDM

74760888.

Proteomic databases

PaxDb

Q96J87.

PRIDE

Q96J87.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000287202; ENSP00000287202; ENSG00000140488.
ENST00000395258; ENSP00000378677; ENSG00000140488.
ENST00000543764; ENSP00000439956; ENSG00000140488.
ENST00000567083; ENSP00000457863; ENSG00000140488.
ENST00000569547; ENSP00000454749; ENSG00000140488.

GeneID

60677.

KEGG

hsa:60677.

UCSC

uc002auh.2. human.
uc002auj.2. human.

Organism-specific databases

CTD

60677.

GeneCards

GC15M072577.

H-InvDB

HIX0012406.

HGNC

HGNC:14059. CELF6.

MIM

612681. gene.

neXtProt

NX_Q96J87.

PharmGKB

PA25430.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG251494.

HOGENOM

HOG000004754.

HOVERGEN

HBG107646.

InParanoid

Q96J87.

KO

K13207.

OMA

MQHVAAF.

OrthoDB

EOG4RJG30.

PhylomeDB

Q96J87.

Gene expression databases

ArrayExpress

Q96J87.

Bgee

Q96J87.

CleanEx

HS_BRUNOL6.

Genevestigator

Q96J87.

Family and domain databases

Gene3D

3.30.70.330. 3 hits.

InterPro

IPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
[Graphical view]

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

EvolutionaryTrace

Q96J87.

GenomeRNAi

60677.

NextBio

65492.

SOURCE

Search...

Entry information

Entry name

CELF6_HUMAN

Accession

Primary (citable) accession number: Q96J87
Secondary accession number(s): B4DG28 , B4DJB6, Q6PII4, Q6ZNJ7, Q8N607

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 10, 2007
Last sequence update:	December 1, 2001
Last modified:	May 1, 2013
This is version 101 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.