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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CELF5 Gene

protein-coding GIFtS: 47
GCID: GC19P003224

CUGBP, Elav-like family member 5

(Previous names: Bruno (Drosophila) -like 5, RNA binding protein, bruno-like...)
(Previous symbol: BRUNOL5)

Explore 2 diseases affiliated with
CELF5 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
CUGBP, Elav-Like Family Member 5¹ ²		BRUNOL-5²
BRUNOL5¹ ² ³ ⁵		Bruno-Like 5 RNA Binding Protein²
CELF-5² ³		CUG-BP And ETR-3 Like Factor 5²
RNA-Binding Protein BRUNOL-5² ³		CUGBP Elav-Like Family Member 5²
Bruno (Drosophila) -Like 5, RNA Binding Protein¹		Bruno-Like Protein 5³
Bruno-Like 5, RNA Binding Protein (Drosophila)¹		CUG-BP- And ETR-3-Like Factor 5³

External Ids:	HGNC: 14058¹	Entrez Gene: 60680²	Ensembl: ENSG00000161082⁷	OMIM: 612680⁵	UniProtKB: Q8N6W0³

ORGUL members:
	NONCODE:n409181 n333060

Export aliases for CELF5 gene to outside databases

Previous GC identifer: GC19P002992

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CELF5:

This gene encodes a member of the the CELF/BRUNOL protein family, which contain two N-terminal RNA recognition motif

(RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM

domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA

editing and translation. Alternatively spliced transcript variants have been found for this gene. (provided by RefSeq,

Jan 2012)

UniProtKB/Swiss-Prot: CELF5_HUMAN, Q8N6W0

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 cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult

transition. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2

pre-mRNA

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NC_018930.1 NT_011255.14

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for CELF5
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CELF5 promoter sequence

Search SABiosciences Chromatin IP Primers for CELF5

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CELF5

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13 Ensembl cytogenetic band: 19p13.3 HGNC cytogenetic band: 19p13

CELF5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CELF5 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19P003224: view genomic region (about GC identifiers)

Start:	3,224,701 bp from pter	End:	3,297,074 bp from pter
Size:	72,374 bases	Orientation:	plus strand

ORGUL member locations:
Legend (see complete legend)

n409181
n333060

lncRNA
Full Legend

3225482 3261278 3297073 chr19

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CELF5_HUMAN, Q8N6W0 (See protein sequence)

Recommended Name: CUGBP Elav-like family member 5

Size: 485 amino acids; 52355 Da

Subcellular location: Nucleus (By similarity). Cytoplasm (By similarity)

Sequence caution: Sequence=AAC27666.1; Type=Erroneous initiation; Sequence=AAK07476.1; Type=Erroneous termination;

Positions=482; Note=Translated as Gly; Sequence=BAD92304.1; Type=Erroneous initiation;

1 PDB 3D structure from and Proteopedia for CELF5:

2DNH (3D)

Secondary accessions: D6W614 O75253 Q59GP2 Q86VW6 Q9BZC0 Q9NR86

Alternative splicing: 2 isoforms: Q8N6W0-1 Q8N6W0-2

Explore the universe of human proteins at neXtProt for CELF5: NX_Q8N6W0

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8N6W0

CELF5 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001166144.1 NP_068757.2

ENSEMBL proteins:

ENSP00000292672 ENSP00000443498 ENSP00000335182 ENSP00000468503

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	Uscn Proteins for CELF5

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005737	cytoplasm	IEA	--

CELF5 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for CELF5

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CELF5 for domains About GeneDecksing

2 InterPro domains/families:

IPR012677 Nucleotide-bd_a/b_plait

IPR000504 RRM_dom

Graphical View of Domain Structure for InterPro Entry Q8N6W0

ProtoNet protein and cluster: Q8N6W0

1 Blocks protein family: IPB000504 RNA-binding region RNP-1 (RNA recognition motif)

UniProtKB/Swiss-Prot: CELF5_HUMAN, Q8N6W0

Similarity: Belongs to the CELF/BRUNOL family

Similarity: Contains 3 RRM (RNA recognition motif) domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CELF5_HUMAN, Q8N6W0

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 cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult

transition. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2

pre-mRNA

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		hsa-miR-142-5p hsa-miR-548j hsa-miR-548k hsa-miR-30d hsa-miR-218 hsa-miR-548l hsa-miR-30a hsa-miR-3622b-3p

		SwitchGear 3'UTR luciferase reporter plasmid: CELF5 3' UTR sequence

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Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0003676	nucleic acid binding	--	--
GO:0003723	RNA binding	IEA	--

CELF5 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for CELF5:

Synthetic lethal with Ras

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CELF5

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006397	mRNA processing	IEA	--

CELF5 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CELF5
Search CenterWatch for drugs/clinical trials and news about CELF5

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for CELF5 gene (2 alternative transcripts):

NM_001172673.1 NM_021938.3

Unigene Cluster for CELF5:

CUGBP, Elav-like family member 5

Hs.655747 [show with all ESTs]

Unigene Representative Sequence: NM_001172673

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000292672(uc002lxm.3) ENST00000541430(uc010dtj.2 uc002lxl.2 uc002lxn.3)

ENST00000334293(uc010xhg.2) ENST00000586050 ENST00000589370 ENST00000588350

ENST00000588101 ENST00000591483

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		hsa-miR-142-5p hsa-miR-548j hsa-miR-548k hsa-miR-30d hsa-miR-218 hsa-miR-548l hsa-miR-30a hsa-miR-3622b-3p

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Additional cDNA sequence:

AB209067.1 AF248649.1 AF329266.1 AK294109.1 AL390161.1 AL832550.1 BC028101.1 BC047522.1

NR_033342.1

7 DOTS entries:

DT.75101329 DT.410468 DT.100741331 DT.95351578 DT.40120248 DT.121420919 DT.100707212

24/66 AceView cDNA sequences (see all 66):

BE503640 AI696124 AW206025 AI474551 AF248649 BE327151 AI671207 AF329266

BF223184 AA339334 BC028101 AA397539 AL832550 NM_021938 AW770693 BM930251

BM683384 BC047522 AW149626 BX952381 BM682088 AL390161 CK299950 BF433763

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for CELF5 (see all 7) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8a	·	8b	^	9a	·	9b	^	10	^	11	^	12a	·	12b	·	12c	^	13a	·	13b	·	13c	·	13d	^	14	^	15
SP1:																			-						-		-												-		-
SP2:																			-						-		-		-
SP3:															-				-						-		-		-
SP4:																			-						-		-		-										-
SP5:																			-

ECgene alternative splicing isoforms for CELF5

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CELF5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGTTTCAAC

About this image
See CELF5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CELF5

SOURCE GeneReport for Unigene cluster: Hs.655747

UniProtKB/Swiss-Prot: CELF5_HUMAN, Q8N6W0

Tissue specificity: Expressed in brain

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for CELF5 gene from 7/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	BRUNOL5¹	bruno-like 5, RNA binding protein (Drosophila)	81.45(n) 92.98(a)		425867 XM_423569.3 XP_423569.3
lizard (Anolis carolinensis)	Reptilia	CELF5⁶ CELF6⁶	--	82(a) 63(a)	1 ↔ 1 possible ortholog	AAWZ02038250(3966-11548) GL343490.1(1292-14752)
zebrafish (Danio rerio)	Actinopterygii	celf5¹	cugbp, Elav-like family member 5	71.95(n) 74.63(a)		568052 NM_001130788.1 NP_001124260.1
fruit fly (Drosophila melanogaster)	Insecta	bru-3⁶	bruno-3	48(a)	possible ortholog	3L(13515293-13796500)
worm (Caenorhabditis elegans)	Secernentea	unc-75⁶	UNCoordinated family member (unc-75)	46(a)	1 → many	I(11592293-11601596)
thale cress (Arabidopsis thaliana)	eudicotyledons	AtRBP-DR1⁶ AT1G03457⁶	RNA recognition motif-containing protein	33(a) 33(a)	many ↔ many many ↔ many	4(1376306-1379420) 1(860788-864125)
rice (Oryza sativa)	Liliopsida	-- -- (see all 3)	RNA recognition motif containing protein, putative... CUG-BP- and ETR-3-like factor 5, putative, express... (see all 3)	33(a) 33(a) (see all 3)	many ↔ many many ↔ many (see all 3)	1(41192307-41197933) 7(27982221-27987007)

ENSEMBL Gene Tree for CELF5 (if available)
TreeFam Gene Tree for CELF5 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CELF5 gene

CELF1² CELF4² CELF2² CELF3² CELF6²

10 SIMAP similar genes for CELF5 using alignment to 3 protein entries: CELF5_HUMAN (see all proteins):

TNRC4 CELF4 BRUNOL4 BRUNOL6 CELF6 CELF3

HNRNPA1 ELAVL2 CELF1 CELF2

CELF5 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs187109529^1,2		--	3222724(+)	`TTTTAA/CATGGG`	2	--	us2k¹		0	--	--	--	--
rs144246979^1,2		--	3222785(+)	`TGAGCA/GGTTTT`	2	--	us2k¹		0	--	--	--	--
rs426633^1,2	C,F,A,H,	--	3222856(-)	`GGATGC/TGCTCT`	2	--	us2k¹		28		NS EA NA WA CSA	2770
rs76260909^1,2	F,	--	3222897(+)	`CTGAGG/CCAGGA`	2	--	us2k¹		1		NA	120
rs35377401^1,2	C	--	3223072(+)	`TTTTTTT/-GAGAC`	2	--	us2k¹		1		NA	2
rs200229918^1,2		--	3223078(+)	`TTTTT-/TTTTG TTTTT`	2	--	us2k¹		0	--	--	--	--
rs151110068^1,2		--	3223095(+)	`TTGAGA/TCAAGA`	2	--	us2k¹		0	--	--	--	--
rs191091689^1,2		--	3223112(+)	`TCTGTC/TGCCTA`	2	--	us2k¹		0	--	--	--	--
rs182608477^1,2		--	3223189(+)	`CCACCA/GCAGCC`	2	--	us2k¹		0	--	--	--	--
rs140019956^1,2		--	3223203(+)	`GAGTAA/GCTGGG`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CELF5 (3224701 - 3297074 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for CELF5
1 CNV: 5072
1 Indel: 102773

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CELF5 for disorders           About GeneDecksing

OMIM gene information: 612680    OMIM disorders: --

2 diseases for CELF5:    About MalaCards

malaria neuronitis

Export disorders for CELF5 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CELF5 gene integrated from 9 sources:
(articles sorted by number of sources associating them with CELF5)

Utopia: connect your pdf to the dynamic
world of online information

A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator. (PubMed id 10893231)^{1, 2, 3} Good P.J.... Herring D.C. (2000)
The CELF family of RNA binding proteins is implicated in cell- specific and developmentally regulated alternative splicing. (PubMed id 11158314)^{1, 2} Ladd A.N.... Cooper T.A. (2001)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
A genome-wide meta-analysis identifies novel loci ass ociated with schizophrenia and bipolar disorder. (PubMed id 20889312)¹ Wang K.S....Aragam N. (2010)
Differential expression of the Brunol/CELF family gen es during Xenopus laevis early development. (PubMed id 19757395)¹ Wu J....Mao B. (2010)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)² Grimwood J.... Lucas S.M. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )² Aoki H.... Hino O. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 60680	HGNC: 14058	AceView: BRUNOL5	Ensembl:ENSG00000161082	euGenes: HUgn60680
ECgene: CELF5	H-InvDB: CELF5

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CELF5	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CELF5 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CELF5 gene:
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GeneCards and IP:
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CUGBP, Elav-like family member 5

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CUGBP, Elav-like family member 5

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