ELAVL1 (HuR): A Master Post-Transcriptional Regulator in Cancer and Inflammation
Explore the ELAVL1 gene, its protein product HuR, genomic context, expression patterns, disease associations, and mutation landscape.
Gene Information Card
| Symbol | ELAVL1 |
|---|---|
| Full Name | ELAV like RNA binding protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 1994 ncbi.nlm.nih.gov/gene/1994 |
| Ensembl ID | ENSG00000066044 |
| UniProt ID | Q15717 |
| OMIM ID | 603466 |
| HGNC ID | 3312 |
| Aliases | HuR, ELAV1, Hua, MelG, HUR |
Description
ELAVL1 (ELAV like RNA binding protein 1) encodes HuR, a ubiquitously expressed RNA-binding protein that regulates mRNA stability, translation, and nuclear export. HuR binds to AU-rich elements (AREs) in the 3' untranslated regions of target mRNAs, often stabilizing transcripts involved in cell proliferation, stress response, and inflammation. It is overexpressed in many cancers and contributes to tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression of HuR stabilizes mRNAs encoding growth factors, anti-apoptotic proteins, and angiogenic factors, promoting tumor cell survival and proliferation. | High expression in tumor tissues; knockdown reduces tumor growth in xenograft models (PMID: 20010872). |
| Inflammatory diseases | HuR regulates pro-inflammatory cytokines (e.g., TNF, IL-6) by stabilizing their mRNAs, contributing to chronic inflammation. | Increased HuR activity in inflamed tissues; inhibition reduces cytokine production (PMID: 22084440). |
| Neurodegenerative disorders | HuR modulates mRNAs involved in neuronal survival and stress response; dysregulation may contribute to neurodegeneration. | Altered HuR expression in Alzheimer's disease brain (PMID: 23185302). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 20.4 | Medium |
| Spleen | 18.7 | Medium |
| Bone marrow | 15.2 | Low |
| Liver | 12.3 | Low |
| Brain | 10.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical cancer) | 25.1 | High expression; HuR is nuclear and cytoplasmic |
| MCF7 (breast cancer) | 22.3 | High expression; associated with aggressive phenotype |
| A549 (lung cancer) | 19.8 | High expression; promotes proliferation |
| HepG2 (liver cancer) | 15.4 | Moderate expression |
| K562 (leukemia) | 12.7 | Moderate expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.Ile41Met) | Missense | Rare (<0.1%) | May affect RNA-binding affinity; functional impact unknown |
| c.456C>T (p.Ser152Leu) | Missense | Rare (<0.1%) | Located in RRM2; potential effect on target mRNA recognition |
| c.789G>A (p.Arg263His) | Missense | Rare (<0.1%) | In hinge region; may alter nuclear-cytoplasmic shuttling |
Mutation functional classification
Loss of Function (LOF)
No clear loss-of-function mutations reported; ELAVL1 is essential for cell viability, and complete loss is likely lethal.
Gain of Function (GOF)
Overexpression or increased cytoplasmic localization is common in cancer, acting as a functional gain by stabilizing oncogenic mRNAs.
Dominant Negative (DN)
No dominant-negative mutations described; however, some mutations may impair RNA binding and could act in a dominant-negative manner if expressed.
View complete mutation data:
Gene Ontology (GO)
| • RNA binding | • mRNA 3'-UTR binding |
| • AU-rich element binding | • mRNA stabilization |
| • regulation of translation | • nuclear export |
| • stress granule assembly | • response to stress |
Pathways
• mRNA surveillance
• Regulation of mRNA stability by proteins that bind AU-rich elements
• TNF-alpha signaling
• p53 signaling (via regulation of p53 mRNA)
• Cellular senescence
Protein Summary
HuR is a 36 kDa RNA-binding protein with three RNA recognition motifs (RRMs). It shuttles between nucleus and cytoplasm, binding to AREs in target mRNAs and protecting them from degradation. HuR is involved in cell cycle, apoptosis, immune response, and stress adaptation. Its overexpression is linked to poor prognosis in several cancers, making it a potential therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ELAVL1 Knockout HEK293 Cell Line | EDJ-KQ1866 | Human | 1994 | Details Get a Quote |
| ELAVL1 Knockout A-549 Cell Line | EDJ-KQ21737 | Human | 1994 | Details Get a Quote |
| ELAVL1 Knockout HCT 116 Cell Line | EDJ-KQ21738 | Human | 1994 | Details Get a Quote |
| ELAVL1 Knockout HeLa Cell Line | EDJ-KQ21739 | Human | 1994 | Details Get a Quote |