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

2008-09-01   Virginie Dormoy-Raclet  , Imed-Eddine Gallouzi  

Department of Biochemistry, McGill University, 3655 Promenade Sir William Osler, Montreal, Quebec H3G 1Y6, Canada

Identity

HGNC
ELAVL1
LOCATION
19p13.2
LOCUSID
1994
ALIAS
ELAV1,HUR,Hua,MelG
FUSION GENES
Show Gene Fusions

DNA/RNA

Atlas Image

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.

Proteins

Atlas Image

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

Entity name
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 name
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 name
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 name
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

Pubmed IDLast YearTitleAuthors

Other Information

Locus ID:

NCBI: 1994
MIM: 603466
HGNC: 3312
Ensembl: ENSG00000066044

Variants:

dbSNP: 1994
ClinVar: 1994
TCGA: ENSG00000066044
COSMIC: ELAVL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000066044ENST00000407627Q15717
ENSG00000066044ENST00000593807M0QZR9
ENSG00000066044ENST00000596154M0R055
ENSG00000066044ENST00000596459Q15717

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
AMPK signaling pathwayKEGGhsa04152
AMPK signaling pathwayKEGGko04152
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163
Regulation of mRNA stability by proteins that bind AU-rich elementsREACTOMER-HSA-450531
HuR (ELAVL1) binds and stabilizes mRNAREACTOMER-HSA-450520
IL-17 signaling pathwayKEGGko04657
IL-17 signaling pathwayKEGGhsa04657

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
378780472024HuR-induced circ_0082319 contributes to hepatocellular carcinoma by elevating PTK2 through miR-505-3p.1
382115302024UBE4B regulates p27 expression in A549 NSCLC cells through regulating the interaction of HuR and the p27 5' UTR.0
383192882024TNF and IFNγ-induced cell death requires IRF1 and ELAVL1 to promote CASP8 expression.0
383694712024HuR promotes castration-resistant prostate cancer progression by altering ERK5 activation via posttranscriptional regulation of BCAT1.0
383876872024LncRNA HOST2 promotes NSUN2-mediated breast cancer progression via interaction with ELAVL1.0
384262692024Human antigen R: Exploring its inflammatory response impact and significance in cardiometabolic disorders.0
384433622024CircNUP54 promotes hepatocellular carcinoma progression via facilitating HuR cytoplasmic export and stabilizing BIRC3 mRNA.0
384927772024Human antigen R transfers miRNA to Syntaxin 5 to synergize miRNA export from activated macrophages.0
385074132024SUMOylation controls Hu antigen R posttranscriptional activity in liver cancer.0
385560832024Increased expression of long non-coding RNA FIRRE promotes hepatocellular carcinoma by HuR-CyclinD1 axis signaling.0
386084482024STAT3 promotes cytoplasmic-nuclear translocation of RNA-binding protein HuR to inhibit IL-1β-induced IL-8 production.0
389652082024HuR controls glutaminase RNA metabolism.0
378780472024HuR-induced circ_0082319 contributes to hepatocellular carcinoma by elevating PTK2 through miR-505-3p.1
382115302024UBE4B regulates p27 expression in A549 NSCLC cells through regulating the interaction of HuR and the p27 5' UTR.0
383192882024TNF and IFNγ-induced cell death requires IRF1 and ELAVL1 to promote CASP8 expression.0

Citation

Virginie Dormoy-Raclet ; Imed-Eddine Gallouzi

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

Atlas Genet Cytogenet Oncol Haematol. 2008-09-01

Online version: http://atlasgeneticsoncology.org/gene/44237/gene-explorer/meetings/