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ELAVL1 (ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R))

Written2008-09Virginie Dormoy-Raclet, Imed-Eddine Gallouzi
Department of Biochemistry, McGill University, 3655 Promenade Sir William Osler, Montreal, Quebec H3G 1Y6, Canada

(Note : for Links provided by Atlas : click)

Identity

Other namesELAV1
HUR
HuR
Hua
MelG
HGNC (Hugo) ELAVL1
LocusID (NCBI) 1994
Atlas_Id 44237
Location 19p13.2  [Link to chromosome band 19p13]
Location_base_pair Starts at 8023457 and ends at 8070529 bp from pter ( according to hg19-Feb_2009)  [Mapping ELAVL1.png]
Fusion genes
(updated 2016)
ELAVL1 (19p13.2) / AC011498.1 ()ELAVL1 (19p13.2) / TYK2 (19p13.2)ZNF699 (19p13.2) / ELAVL1 (19p13.2)

DNA/RNA

 
Description The ELAV1 gene, located on the minus strand, encompasses 47072 bp with 6 exons and 5 introns.
Transcription mRNA of 2,3 kb but a second putative poly(A) signal is described leading to a 6 kb mRNA.
Coding sequence from 168 to 1148 b.

Protein

 
Description The HuR protein consists of 326 aa (36 kDa). HuR has three highly conserved motifs belonging to the RNA recognition motif (RRM) superfamily and a hinge region between RRMs 2 and 3 named the HuR nucleocytoplasmic shuttling (HNS) domain. It has been shown that the HNS domain regulates the localization of HuR by mediating its association with adaptor proteins for nuclear export such as pp32/PHAP-I and APRIL and with import factors transportin-1, transportin-2, and importin.
Expression Ubiquitously expressed
Localisation Predominantly nuclear but shuttles between the nuclear and the cytoplasm.
Function HuR belongs to the ELAV/Hu family (embryonic lethal abnormal vision phenotype in flies) of RNA-binding proteins (RBPs). Like other Hu/ELAVL RBPs, HuR contains 3 RRM through which it binds to specific mRNA and influences their post-transcriptional expression. HuR exhibits a high affinity for adenosine and uracil- (AU-) rich elements (ARE) leading to the stabilization and/or transport of its target host messages. In addition to its role as an mRNA stabilizer and transporter, HuR has been shown to mediate the translation of mRNAs and rarely to repress translation. Moreover, HuR plays a key role in the enhancement of caspase-dependent apoptosis induced by extreme stress conditions. In response to a lethal stress, HuR accumulates in the cytoplasm, where it undergoes caspase-mediated cleavage. This cleavage appears to be important for pp32/PHAP-I - mediated enhancement of the caspase-dependent apoptosis. HuR was shown to play others critical functions in cells responding to immune stimuli, nutrient availability, and exposure to damaging agents. Similarly, it has an important regulatory function in the progression of cells through the division cycle, the implementation of differentiation programs, the promotion of cell migration, cell invasion and a malignant phenotype, and the inhibition of replicative senescence.

Mutations

Note No HuR mutations have been found in cancer or other diseases.

Implicated in

Note
Entity Cancer
Oncogenesis Breast , Lung , Colon and Ovary cancer. Expression of HuR is increased in all cancer tissues compared to the normal-tissue counterparts. It exists a consistent correlation between HuR expression levels and advancing stages of malignancy.
  
Entity Cachexia
Disease Cachexia, characterized by the excessive loss of skeletal muscle, is frequently seen in patients with chronic diseases such as cancer. The bioactive gas nitric oxide has been identified as an important player in cancer-induced cachexia because NO is directly involved in the loss of MyoD mRNA (a key factor needed for the myogenic process, which is destabilized during cachexia) and muscle fiber. These events are mediated by the ability of HuR to associate and stabilizes the message encoding the inducible NO synthase enzyme.
  
Entity Hypertension
Disease Chronic hypertension is associated with functional and morphological alterations of the vessel wall (ie, dysfunctional vascular endothelium and thickening of the smooth muscle layer). The pathomechanisms accounting for hypertension-induced vascular alterations are likely to be multifactorial. HuR is not only an important factor controlling vascular gene expression, but it is also subject to control by vasoactive factors that regulate cGMP and cAMP levels and downregulate its expression.
  
Entity Paraneoplastic neurological disease
Disease Paraneoplastic enecephalomyelitis/sensory neuronopathy (PEM/SSN) is characterized by the presence of a common autoantibody, referred to as anti-Hu or type I anti-neuronal nuclear antibody (ANNA-1). The target of these antibodies is the family of Hu antigens (Hel-N1, HuC, HuD and HuR).
  

Bibliography

Overexpression of HuR, a nuclear-cytoplasmic shuttling protein, increases the in vivo stability of ARE-containing mRNAs.
Fan XC, Steitz JA.
EMBO J. 1998 Jun 15; 17(12): 3448-3460.
PMID 9628880
 
Hu antigen specificities of ANNA-I autoantibodies in paraneoplastic neurological disease.
King PH, Redden D, Palmgren JS, Nabors LB, Lennon VA.
J Autoimmun. 1999 Dec; 13(4): 435-443.
PMID 10585760
 
HuR and mRNA stability.
Brennan CM, Steitz JA.
Cell Mol Life Sci. 2001 Feb; 58(2): 266-277. Review.
PMID 11289308
 
RNAi-mediated HuR depletion leads to the inhibition of muscle cell differentiation.
van der Giessen K, Di-Marco S, Clair E, Gallouzi IE.
J Biol Chem. 2003 Nov 21; 278(47): 47119-47128.
PMID 12944397
 
NF-kappa B-mediated MyoD decay during muscle wasting requires nitric oxide synthase mRNA stabilization, HuR protein, and nitric oxide release.
Di Marco S, Mazroui R, Dallaire P, Chittur S, Tenenbaum SA, Radzioch D, Marette A, Gallouzi IE.
Mol Cell Biol. 2005 Aug; 25(15): 6533-6545.
PMID 16024790
 
Human-antigen R (HuR) expression in hypertension: downregulation of the mRNA stabilizing protein HuR in genetic hypertension.
Kloss S, Rodenbach D, Bordel R, Mulsch A.
Hypertension. 2005 Jun; 45(6): 1200-1206.
PMID 15883232
 
HuR: post-transcriptional paths to malignancy.
Lopez de Silanes I, Lal A, Gorospe M.
RNA Biol. 2005 Jan; 2(1): 11-13.
PMID 17132932
 
The RNA-binding protein HuR promotes cell migration and cell invasion by stabilizing the beta-actin mRNA in a U-rich-element-dependent manner.
Dormoy-Raclet V, Menard I, Clair E, Kurban G, Mazroui R, Di Marco S, von Roretz C, Pause A, Gallouzi IE.
Mol Cell Biol. 2007 Aug; 27(15): 5365-5380.
PMID 17548472
 
Caspase-mediated cleavage of HuR in the cytoplasm contributes to pp32/PHAP-I regulation of apoptosis.
Mazroui R, Di Marco S, Clair E, von Roretz C, Tenenbaum SA, Keene JD, Saleh M, Gallouzi IE.
J Cell Biol. 2008 Jan 14; 180(1): 113-127.
PMID 18180367
 

Citation

This paper should be referenced as such :
Dormoy-Raclet, V ; Gallouzi, IE
ELAVL1 (ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R))
Atlas Genet Cytogenet Oncol Haematol. 2009;13(8):556-558.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/ELAVL1ID44237ch19p13.html


External links

Nomenclature
HGNC (Hugo)ELAVL1   3312
Cards
AtlasELAVL1ID44237ch19p13
Entrez_Gene (NCBI)ELAVL1  1994  ELAV like RNA binding protein 1
AliasesELAV1; HUR; Hua; MelG
GeneCards (Weizmann)ELAVL1
Ensembl hg19 (Hinxton)ENSG00000066044 [Gene_View]  chr19:8023457-8070529 [Contig_View]  ELAVL1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000066044 [Gene_View]  chr19:8023457-8070529 [Contig_View]  ELAVL1 [Vega]
ICGC DataPortalENSG00000066044
TCGA cBioPortalELAVL1
AceView (NCBI)ELAVL1
Genatlas (Paris)ELAVL1
WikiGenes1994
SOURCE (Princeton)ELAVL1
Genomic and cartography
GoldenPath hg19 (UCSC)ELAVL1  -     chr19:8023457-8070529 -  19p13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ELAVL1  -     19p13.2   [Description]    (hg38-Dec_2013)
EnsemblELAVL1 - 19p13.2 [CytoView hg19]  ELAVL1 - 19p13.2 [CytoView hg38]
Mapping of homologs : NCBIELAVL1 [Mapview hg19]  ELAVL1 [Mapview hg38]
OMIM603466   
Gene and transcription
Genbank (Entrez)AI375368 AK022334 AK096659 AK301013 AL713686
RefSeq transcript (Entrez)NM_001419
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011295 NW_004929413
Consensus coding sequences : CCDS (NCBI)ELAVL1
Cluster EST : UnigeneHs.713744 [ NCBI ]
CGAP (NCI)Hs.713744
Alternative Splicing GalleryENSG00000066044
Gene ExpressionELAVL1 [ NCBI-GEO ]   ELAVL1 [ EBI - ARRAY_EXPRESS ]   ELAVL1 [ SEEK ]   ELAVL1 [ MEM ]
Gene Expression Viewer (FireBrowse)ELAVL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1994
GTEX Portal (Tissue expression)ELAVL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15717 (Uniprot)
NextProtQ15717  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15717
Splice isoforms : SwissVarQ15717 (Swissvar)
PhosPhoSitePlusQ15717
Domaine pattern : Prosite (Expaxy)RRM (PS50102)   
Domains : Interpro (EBI)ELAD_HUD_SF    Hud_Sxl_RNA    Nucleotide-bd_a/b_plait    RRM_dom   
Domain families : Pfam (Sanger)RRM_1 (PF00076)   
Domain families : Pfam (NCBI)pfam00076   
Domain families : Smart (EMBL)RRM (SM00360)  
DMDM Disease mutations1994
Blocks (Seattle)ELAVL1
PDB (SRS)3HI9    4ED5    4EGL    4FXV   
PDB (PDBSum)3HI9    4ED5    4EGL    4FXV   
PDB (IMB)3HI9    4ED5    4EGL    4FXV   
PDB (RSDB)3HI9    4ED5    4EGL    4FXV   
Structural Biology KnowledgeBase3HI9    4ED5    4EGL    4FXV   
SCOP (Structural Classification of Proteins)3HI9    4ED5    4EGL    4FXV   
CATH (Classification of proteins structures)3HI9    4ED5    4EGL    4FXV   
SuperfamilyQ15717
Human Protein AtlasENSG00000066044
Peptide AtlasQ15717
HPRD16025
IPIIPI00940851   IPI00301936   
Protein Interaction databases
DIP (DOE-UCLA)Q15717
IntAct (EBI)Q15717
FunCoupENSG00000066044
BioGRIDELAVL1
STRING (EMBL)ELAVL1
ZODIACELAVL1
Ontologies - Pathways
QuickGOQ15717
Ontology : AmiGOnucleotide binding  mRNA splicing, via spliceosome  RNA binding  double-stranded RNA binding  mRNA binding  mRNA 3'-UTR binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytosol  cytosol  multicellular organism development  membrane  AU-rich element binding  protein kinase binding  mRNA 3'-UTR AU-rich region binding  protein homodimerization activity  regulation of mRNA stability  poly(A) RNA binding  positive regulation of translation  mRNA stabilization  mRNA stabilization  3'-UTR-mediated mRNA stabilization  3'-UTR-mediated mRNA stabilization  regulation of stem cell population maintenance  
Ontology : EGO-EBInucleotide binding  mRNA splicing, via spliceosome  RNA binding  double-stranded RNA binding  mRNA binding  mRNA 3'-UTR binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytosol  cytosol  multicellular organism development  membrane  AU-rich element binding  protein kinase binding  mRNA 3'-UTR AU-rich region binding  protein homodimerization activity  regulation of mRNA stability  poly(A) RNA binding  positive regulation of translation  mRNA stabilization  mRNA stabilization  3'-UTR-mediated mRNA stabilization  3'-UTR-mediated mRNA stabilization  regulation of stem cell population maintenance  
Pathways : BIOCARTAVEGF, Hypoxia, and Angiogenesis [Genes]   
REACTOMEQ15717 [protein]
REACTOME PathwaysR-HSA-450520 HuR stabilizes mRNA [pathway]
NDEx Network
Atlas of Cancer Signalling NetworkELAVL1
Wikipedia pathwaysELAVL1
Orthology - Evolution
OrthoDB1994
GeneTree (enSembl)ENSG00000066044
Phylogenetic Trees/Animal Genes : TreeFamELAVL1
Homologs : HomoloGeneELAVL1
Homology/Alignments : Family Browser (UCSC)ELAVL1
Gene fusions - Rearrangements
Fusion : MitelmanZNF699/ELAVL1 [19p13.2/19p13.2]  [t(19;19)(p13;p13)]  
Fusion: TCGAELAVL1 19p13.2 AC011498.1 BRCA
Fusion: TCGAZNF699 19p13.2 ELAVL1 19p13.2 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerELAVL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ELAVL1
dbVarELAVL1
ClinVarELAVL1
1000_GenomesELAVL1 
Exome Variant ServerELAVL1
ExAC (Exome Aggregation Consortium)ELAVL1 (select the gene name)
Genetic variants : HAPMAP1994
Genomic Variants (DGV)ELAVL1 [DGVbeta]
Mutations
ICGC Data PortalELAVL1 
TCGA Data PortalELAVL1 
Broad Tumor PortalELAVL1
OASIS PortalELAVL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICELAVL1 
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 ELAVL1
DgiDB (Drug Gene Interaction Database)ELAVL1
DoCM (Curated mutations)ELAVL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ELAVL1 (select a term)
intoGenELAVL1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)19:8023457-8070529  ENSG00000066044
CONAN: Copy Number AnalysisELAVL1 
Mutations and Diseases : HGMDELAVL1
OMIM603466   
MedgenELAVL1
Genetic Testing Registry ELAVL1
NextProtQ15717 [Medical]
TSGene1994
GENETestsELAVL1
Huge Navigator ELAVL1 [HugePedia]
snp3D : Map Gene to Disease1994
BioCentury BCIQELAVL1
ClinGenELAVL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1994
Chemical/Pharm GKB GenePA27740
Clinical trialELAVL1
Miscellaneous
canSAR (ICR)ELAVL1 (select the gene name)
Probes
Litterature
PubMed326 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineELAVL1
EVEXELAVL1
GoPubMedELAVL1
iHOPELAVL1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jun 11 13:07:37 CEST 2016

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