HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ELF1
E74 like ETS transcription factor 1
Chromosome 13 · 13q14.11
NCBI Gene: 1997Ensembl: ENSG00000120690.18HGNC: HGNC:3316UniProt: P32519
69PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA-binding transcription activator activity, RNA polymerase II-specificpositive regulation of DNA-templated transcriptionpositive regulation of transcription by RNA polymerase IIDNA-binding transcription factor activitysystemic lupus erythematosusCrohn's diseasetype 2 diabetes mellituskeratoconus
✦AI Summary

ELF1 (E74 like ETS transcription factor 1) is a sequence-specific DNA-binding transcription factor that activates gene expression through RNA polymerase II-mediated mechanisms. As an ETS family member, ELF1 binds to purine-rich motifs in gene promoters and enhancers to regulate transcription of target genes including LYN and BLK 1. ELF1 plays critical roles in immune cell development and differentiation, contributing to T cell, B cell, and dendritic cell function 1. Beyond immunity, ELF1 functions as a core transcriptional regulatory circuit component in acute myeloid leukemia (AML), where it cooperates with other transcription factors to sustain leukemic cell proliferation 2. In intervertebral disc degeneration, ELF1 drives nucleus pulposus cell senescence by transactivating METTL3 and YTHDF2, triggering m6A-dependent degradation of E2F3 mRNA and G1/S cell cycle arrest 3. ELF1 also mediates neuropathic pain by inducing nerve injury-specific lncRNA, which promotes CCL2 expression in dorsal root ganglia 4. Clinically, ELF1 deletions occur in pediatric AML 5, and ELF1 participates in melanoma phenotype switching through intermediate cell state regulation 6. These findings establish ELF1 as a multifunctional transcription factor involved in immune regulation, cancer progression, and age-related degenerative diseases.

Sources cited
1
ELF1 is an ETS family transcription factor essential for immune cell development and function, involved in immune-related diseases
PMID: 39337492
2
ELF1 is a core transcriptional regulatory circuit component in AML that sustains leukemic cell proliferation
PMID: 40083704
3
ELF1 transactivates METTL3/YTHDF2 to promote nucleus pulposus cell senescence through m6A-dependent E2F3 mRNA degradation in intervertebral disc degeneration
PMID: 40467575
4
ELF1 binds to the NIS-lncRNA promoter and increases its expression in injured dorsal root ganglia, promoting neuropathic pain via CCL2 upregulation
PMID: 35775484
5
ELF1 focal deletions are disproportionately prevalent in pediatric acute myeloid leukemia compared to adults
PMID: 29227476
6
ELF1 is a transcription factor governing the intermediate state in melanoma phenotype switching
PMID: 32753671
7
ELF1 is predominantly localized to glandular epithelium and shows cycle-stage specificity in the human endometrium
PMID: 10377039
8
ELF1 binds to genes enriched in leukocyte migration and immune response pathways in abdominal aortic aneurysm tissue
PMID: 25993293
Disease Associationsⓘ20
systemic lupus erythematosusOpen Targets
0.42Moderate
Crohn's diseaseOpen Targets
0.41Moderate
type 2 diabetes mellitusOpen Targets
0.32Weak
keratoconusOpen Targets
0.29Weak
injuryOpen Targets
0.22Weak
autoimmune diseaseOpen Targets
0.20Weak
gliomaOpen Targets
0.10Suggestive
nasopharyngeal carcinomaOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
colitisOpen Targets
0.07Suggestive
nail-patella syndromeOpen Targets
0.07Suggestive
myelodysplastic syndromeOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
Hodgkins lymphomaOpen Targets
0.05Suggestive
classic Hodgkin lymphomaOpen Targets
0.05Suggestive
combined immunodeficiency with skin granulomasOpen Targets
0.05Suggestive
macroglobulinemia, Waldenstrom, 1Open Targets
0.05Suggestive
severe combined immunodeficiency due to CARD11 deficiencyOpen Targets
0.05Suggestive
hyper-IgM syndrome type 3Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PPDPFLShared pathway100%ETV3LShared pathway100%ERFLShared pathway100%NKX1-2Shared pathway100%NHSL2Shared pathway100%ZNF800Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
39%
Heart
29%
Ovary
17%
Liver
16%
Brain
12%
Gene Interaction Network
Click a node to explore
ELF1PPDPFLETV3LERFLNKX1-2NHSL2ZNF800
PROTEIN STRUCTURE
Preparing viewer…
PDB8BZM · 2.69 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.66LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.46 [0.33–0.66]
RankingsWhere ELF1 stands among ~20K protein-coding genes
  • #6,796of 20,598
    Most Researched69
  • #4,789of 17,882
    Most Constrained (LOEUF)0.66
Genes detectedELF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The molecular landscape of pediatric acute myeloid leukemia reveals recurrent structural alterations and age-specific mutational interactions.
PMID: 29227476
Nat Med · 2018
1.00
2
Robust gene expression programs underlie recurrent cell states and phenotype switching in melanoma.
PMID: 32753671
Nat Cell Biol · 2020
0.90
3
ELF1-mediated transactivation of METTL3/YTHDF2 promotes nucleus pulposus cell senescence via m6A-dependent destabilization of E2F3 mRNA in intervertebral disc degeneration.
PMID: 40467575
Cell Death Discov · 2025
0.80
4
ETS Transcription Factors in Immune Cells and Immune-Related Diseases.
PMID: 39337492
Int J Mol Sci · 2024
0.70
5
A nerve injury-specific long noncoding RNA promotes neuropathic pain by increasing Ccl2 expression.
PMID: 35775484
J Clin Invest · 2022
0.60