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CELF1 (CUGBP Elav-like family member 1)

Identity

Alias_namesCUGBP1
CUG triplet repeat, RNA-binding protein 1
CUG triplet repeat, RNA binding protein 1
CUGBP, Elav-like family member 1
Alias_symbol (synonym)CUG-BP
hNab50
BRUNOL2
NAB50
CUGBP
NAPOR
EDEN-BP
Other alias
HGNC (Hugo) CELF1
LocusID (NCBI) 10658
Atlas_Id 52935
Location 11p11.2  [Link to chromosome band 11p11]
Location_base_pair Starts at 47465937 and ends at 47494521 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ARFGAP2 (11p11.2) / CELF1 (11p11.2)CD109 (6q13) / CELF1 (11p11.2)CELF1 (11p11.2) / BBOX1 (11p14.2)
CELF1 (11p11.2) / CELF1 (11p11.2)CELF1 (11p11.2) / DNAJC3 (13q32.1)CELF1 (11p11.2) / LUZP2 (11p14.3)
CELF1 (11p11.2) / MTCH2 (11p11.2)CELF1 (11p11.2) / MYOM1 (18p11.31)TNK2 (3q29) / CELF1 (11p11.2)
ARFGAP2 11p11.2 / CELF1 11p11.2CELF1 11p11.2 / BBOX1 11p14.2CELF1 11p11.2 / LUZP2 11p14.3
CELF1 11p11.2 / MTCH2 11p11.2CELF1 11p11.2 / MYOM1 18p11.31

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 7 ]
  ARFGAP2/CELF1 (11p11)
CELF1/FNBP4 (11p11)
CELF1/MTCH2 (11p11)
t(11;11)(p11;p14) CELF1/BBOX1
t(11;11)(p11;p14) CELF1/LUZP2
t(11;11)(p11;q14) CELF1/DDIAS
t(11;18)(p11;p11) CELF1/MYOM1

External links

Nomenclature
HGNC (Hugo)CELF1   2549
Cards
Entrez_Gene (NCBI)CELF1  10658  CUGBP Elav-like family member 1
AliasesBRUNOL2; CUG-BP; CUGBP; CUGBP1; 
EDEN-BP; NAB50; NAPOR; hNab50
GeneCards (Weizmann)CELF1
Ensembl hg19 (Hinxton)ENSG00000149187 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000149187 [Gene_View]  ENSG00000149187 [Sequence]  chr11:47465937-47494521 [Contig_View]  CELF1 [Vega]
ICGC DataPortalENSG00000149187
TCGA cBioPortalCELF1
AceView (NCBI)CELF1
Genatlas (Paris)CELF1
WikiGenes10658
SOURCE (Princeton)CELF1
Genetics Home Reference (NIH)CELF1
Genomic and cartography
GoldenPath hg38 (UCSC)CELF1  -     chr11:47465937-47494521 -  11p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CELF1  -     11p11.2   [Description]    (hg19-Feb_2009)
GoldenPathCELF1 - 11p11.2 [CytoView hg19]  CELF1 - 11p11.2 [CytoView hg38]
ImmunoBaseENSG00000149187
Mapping of homologs : NCBICELF1 [Mapview hg19]  CELF1 [Mapview hg38]
OMIM601074   
Gene and transcription
Genbank (Entrez)AB210019 AF248648 AF267533 AF267534 AJ007988
RefSeq transcript (Entrez)NM_001025596 NM_001172639 NM_001172640 NM_001330272 NM_006560 NM_198700
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CELF1
Cluster EST : UnigeneHs.595333 [ NCBI ]
CGAP (NCI)Hs.595333
Alternative Splicing GalleryENSG00000149187
Gene ExpressionCELF1 [ NCBI-GEO ]   CELF1 [ EBI - ARRAY_EXPRESS ]   CELF1 [ SEEK ]   CELF1 [ MEM ]
Gene Expression Viewer (FireBrowse)CELF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10658
GTEX Portal (Tissue expression)CELF1
Human Protein AtlasENSG00000149187-CELF1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92879   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92879  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92879
Splice isoforms : SwissVarQ92879
PhosPhoSitePlusQ92879
Domaine pattern : Prosite (Expaxy)RRM (PS50102)   
Domains : Interpro (EBI)CELF1/2_RRM1    CELF1/2_RRM2    CELF1/2_RRM3    Nucleotide-bd_a/b_plait_sf    RBD_domain_sf    RRM_dom   
Domain families : Pfam (Sanger)RRM_1 (PF00076)   
Domain families : Pfam (NCBI)pfam00076   
Domain families : Smart (EMBL)RRM (SM00360)  
Conserved Domain (NCBI)CELF1
DMDM Disease mutations10658
Blocks (Seattle)CELF1
PDB (RSDB)2CPZ    2DHS    2RQ4    2RQC    3NMR    3NNA    3NNC    3NNH   
PDB Europe2CPZ    2DHS    2RQ4    2RQC    3NMR    3NNA    3NNC    3NNH   
PDB (PDBSum)2CPZ    2DHS    2RQ4    2RQC    3NMR    3NNA    3NNC    3NNH   
PDB (IMB)2CPZ    2DHS    2RQ4    2RQC    3NMR    3NNA    3NNC    3NNH   
Structural Biology KnowledgeBase2CPZ    2DHS    2RQ4    2RQC    3NMR    3NNA    3NNC    3NNH   
SCOP (Structural Classification of Proteins)2CPZ    2DHS    2RQ4    2RQC    3NMR    3NNA    3NNC    3NNH   
CATH (Classification of proteins structures)2CPZ    2DHS    2RQ4    2RQC    3NMR    3NNA    3NNC    3NNH   
SuperfamilyQ92879
Human Protein Atlas [tissue]ENSG00000149187-CELF1 [tissue]
Peptide AtlasQ92879
HPRD03046
IPIIPI00034015   IPI00218388   IPI00218389   IPI00853009   IPI00956101   IPI00984962   IPI00984001   IPI00982591   IPI00982054   IPI00978122   IPI01015313   IPI01013116   IPI01014573   IPI01015825   
Protein Interaction databases
DIP (DOE-UCLA)Q92879
IntAct (EBI)Q92879
FunCoupENSG00000149187
BioGRIDCELF1
STRING (EMBL)CELF1
ZODIACCELF1
Ontologies - Pathways
QuickGOQ92879
Ontology : AmiGOregulation of alternative mRNA splicing, via spliceosome  translation repressor activity, mRNA regulatory element binding  RNA binding  RNA binding  RNA binding  mRNA binding  mRNA binding  protein binding  nucleus  nucleus  nucleus  nucleoplasm  cytoplasm  mRNA splice site selection  mRNA splice site selection  mRNA splice site selection  mRNA processing  germ cell development  embryo development ending in birth or egg hatching  membrane  RNA interference  negative regulation of translation  pre-mRNA binding  BRE binding  regulation of RNA splicing  ribonucleoprotein complex  ribonucleoprotein complex  
Ontology : EGO-EBIregulation of alternative mRNA splicing, via spliceosome  translation repressor activity, mRNA regulatory element binding  RNA binding  RNA binding  RNA binding  mRNA binding  mRNA binding  protein binding  nucleus  nucleus  nucleus  nucleoplasm  cytoplasm  mRNA splice site selection  mRNA splice site selection  mRNA splice site selection  mRNA processing  germ cell development  embryo development ending in birth or egg hatching  membrane  RNA interference  negative regulation of translation  pre-mRNA binding  BRE binding  regulation of RNA splicing  ribonucleoprotein complex  ribonucleoprotein complex  
NDEx NetworkCELF1
Atlas of Cancer Signalling NetworkCELF1
Wikipedia pathwaysCELF1
Orthology - Evolution
OrthoDB10658
GeneTree (enSembl)ENSG00000149187
Phylogenetic Trees/Animal Genes : TreeFamCELF1
HOGENOMQ92879
Homologs : HomoloGeneCELF1
Homology/Alignments : Family Browser (UCSC)CELF1
Gene fusions - Rearrangements
Fusion : MitelmanARFGAP2/CELF1 [11p11.2/11p11.2]  [t(11;11)(p11;p11)]  
Fusion : MitelmanCELF1/BBOX1 [11p11.2/11p14.2]  [t(11;11)(p11;p14)]  
Fusion : MitelmanCELF1/LUZP2 [11p11.2/11p14.3]  [t(11;11)(p11;p14)]  
Fusion : MitelmanCELF1/MTCH2 [11p11.2/11p11.2]  [t(11;11)(p11;p11)]  
Fusion : MitelmanCELF1/MYOM1 [11p11.2/18p11.31]  [t(11;18)(p11;p11)]  
Fusion PortalARFGAP2 11p11.2 CELF1 11p11.2 BRCA
Fusion PortalCELF1 11p11.2 BBOX1 11p14.2 LGG
Fusion PortalCELF1 11p11.2 LUZP2 11p14.3 BRCA
Fusion PortalCELF1 11p11.2 MTCH2 11p11.2 BRCA LUSC
Fusion PortalCELF1 11p11.2 MYOM1 18p11.31 LUAD
Fusion : QuiverCELF1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCELF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CELF1
dbVarCELF1
ClinVarCELF1
1000_GenomesCELF1 
Exome Variant ServerCELF1
ExAC (Exome Aggregation Consortium)ENSG00000149187
GNOMAD BrowserENSG00000149187
Varsome BrowserCELF1
Genetic variants : HAPMAP10658
Genomic Variants (DGV)CELF1 [DGVbeta]
DECIPHERCELF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCELF1 
Mutations
ICGC Data PortalCELF1 
TCGA Data PortalCELF1 
Broad Tumor PortalCELF1
OASIS PortalCELF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCELF1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCELF1
Mutations and Diseases : HGMDCELF1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CELF1
DgiDB (Drug Gene Interaction Database)CELF1
DoCM (Curated mutations)CELF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CELF1 (select a term)
intoGenCELF1
Cancer3DCELF1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601074   
Orphanet
DisGeNETCELF1
MedgenCELF1
Genetic Testing Registry CELF1
NextProtQ92879 [Medical]
TSGene10658
GENETestsCELF1
Target ValidationCELF1
Huge Navigator CELF1 [HugePedia]
snp3D : Map Gene to Disease10658
BioCentury BCIQCELF1
ClinGenCELF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10658
Chemical/Pharm GKB GenePA27045
Clinical trialCELF1
Miscellaneous
canSAR (ICR)CELF1 (select the gene name)
DataMed IndexCELF1
Probes
Litterature
PubMed101 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCELF1
EVEXCELF1
GoPubMedCELF1
iHOPCELF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 17:36:48 CET 2019
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