ELK1: ETS Transcription Factor ELK1
A key regulator of immediate early gene expression and cell proliferation
Gene Information Card
| Symbol | ELK1 |
|---|---|
| Full Name | ETS transcription factor ELK1 |
| Gene Type | protein-coding |
| Chromosomal Location | Xp11.23 |
| NCBI Gene ID | 2002 ncbi.nlm.nih.gov/gene/2002 |
| Ensembl ID | ENSG00000126767 |
| UniProt ID | P19419 |
| OMIM ID | 311040 |
| HGNC ID | 3321 |
| Aliases | ELK1, ETS domain-containing protein Elk-1 |
Description
ELK1 is a member of the ETS family of transcription factors and a key component of the ternary complex factor (TCF) subfamily. It regulates immediate early gene expression in response to extracellular signals via the MAPK/ERK pathway. ELK1 binds to the serum response element (SRE) in the promoter of target genes such as FOS, and its activity is modulated by phosphorylation. It plays roles in cell proliferation, differentiation, and oncogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | ELK1 overexpression and altered MAPK signaling promote tumor growth | PMID: 23542377 |
| Breast cancer | ELK1 activation via ERK pathway contributes to cell proliferation | PMID: 24658222 |
| Hepatocellular carcinoma | ELK1 upregulation associated with poor prognosis | PMID: 29719225 |
| Neuroblastoma | ELK1 expression correlates with MYCN amplification | PMID: 19351801 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Lung | 10.2 | Medium |
| Kidney | 9.8 | Medium |
| Testis | 15.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical cancer cell line |
| HEK293 | 11.5 | Embryonic kidney cells |
| MCF7 | 9.8 | Breast cancer cell line |
| A549 | 13.1 | Lung cancer cell line |
| K562 | 7.6 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.344G>A (p.Arg115Gln) | Missense | <0.1% | Altered DNA-binding affinity |
| c.502C>T (p.Pro168Ser) | Missense | <0.1% | Unknown functional impact |
| c.721A>G (p.Asn241Asp) | Missense | <0.1% | Potential gain-of-function in cancer |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in ELK1.
Gain of Function (GOF)
Rare missense variants (e.g., p.Asn241Asp) may enhance transcriptional activity in cancer contexts.
Dominant Negative (DN)
Not described for ELK1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• MAPK/ERK signaling pathway (Reactome: R-HSA-5673001)
• Signaling by NTRK1 (TRKA) (Reactome: R-HSA-187037)
• Transcriptional regulation by small RNAs (Reactome: R-HSA-5576892)
Protein Summary
ELK1 is a 428-amino acid nuclear protein containing an N-terminal ETS DNA-binding domain and a C-terminal transactivation domain rich in serine/threonine residues. It is phosphorylated by ERK1/2 and other MAPKs, leading to recruitment to the SRE in complex with SRF. ELK1 regulates genes involved in cell cycle, differentiation, and apoptosis. Its expression is ubiquitous with higher levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ELK1 Knockout HEK293 Cell Line | EDJ-KQ652 | Human | 2002 | Details Get a Quote |
| ELK1 Knockout A-549 Cell Line | EDJ-KQ19150 | Human | 2002 | Details Get a Quote |
| ELK1 Knockout HCT 116 Cell Line | EDJ-KQ19151 | Human | 2002 | Details Get a Quote |
| ELK1 Knockout HeLa Cell Line | EDJ-KQ19152 | Human | 2002 | Details Get a Quote |
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