ELF3
gene geneOn this page
Also known as EPR-1ESE-1ERT
Summary
ELF3 (E74 like ETS transcription factor 3, HGNC:3318) is a protein-coding gene on chromosome 1q32.1, encoding ETS-related transcription factor Elf-3 (P78545). Transcriptional activator that binds and transactivates ETS sequences containing the consensus nucleotide core sequence GGA[AT].
Enables DNA-binding transcription activator activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in inflammatory response; negative regulation of DNA-templated transcription; and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm.
Source: NCBI Gene 1999 — automated summary from GO annotations (Alliance of Genome Resources).
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 36 total
- Regional missense constraint (gnomAD): 1 of 3 regions constrained (≈4% of expected missense variation)
- GTEx eGene: eQTL in 8 tissues, sQTL in 1 (q < 0.05)
- Cancer driver (intOGen): activating (oncogene-like) across 3 cancer types (inferred from mutation patterns)
- Constraint (gnomAD): pLI 0.01 (LoF-tolerant), LOEUF 0.68 (unconstrained)
- Transcription factor: yes — 35 downstream targets (CollecTRI)
- MANE Select transcript:
NM_004433
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3318 |
| Approved symbol | ELF3 |
| Name | E74 like ETS transcription factor 3 |
| Location | 1q32.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | EPR-1, ESE-1, ERT |
| Ensembl gene | ENSG00000163435 |
| Ensembl biotype | protein_coding |
| OMIM | 602191 |
| Entrez | 1999 |
Gene structure
Transcript identifiers
Ensembl transcripts: 28 — 12 nonsense_mediated_decay, 10 protein_coding, 6 protein_coding_CDS_not_defined
MANE Select: ENST00000367284
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 3, TSL 2: 4, TSL 3: 1, TSL 5: 2
ENST00000367284, ENST00000359651, ENST00000367283, ENST00000446188, ENST00000470384, ENST00000475698, ENST00000479874, ENST00000490203, ENST00000495848, ENST00000498017, ENST00001004692, ENST00001004693, ENST00001004694, ENST00001004695, ENST00001004696, ENST00001004697, ENST00001004698, ENST00001056070, ENST00001056071, ENST00001056072, ENST00001056073, ENST00001056074, ENST00001056076, ENST00001056077, ENST00001056078, ENST00001120184, ENST00001125604, ENST00001145698
RefSeq mRNA: 2 — MANE Select: NM_004433
NM_001114309, NM_004433
CCDS: CCDS1419
Canonical transcript exons
ENST00000367284 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001074488 | 202013182 | 202013298 |
| ENSE00001074490 | 202011957 | 202012178 |
| ENSE00001074493 | 202012344 | 202012436 |
| ENSE00001074503 | 202013829 | 202014024 |
| ENSE00001708160 | 202010587 | 202010706 |
| ENSE00003461023 | 202012947 | 202013036 |
| ENSE00003493687 | 202011129 | 202011299 |
| ENSE00003639455 | 202012640 | 202012759 |
| ENSE00004807477 | 202015209 | 202017183 |
Expression profiles
Bgee: expression breadth ubiquitous, 197 present calls, max score 99.64.
FANTOM5 (CAGE): breadth broad, TPM avg 20.5917 / max 580.2913, expressed in 683 samples.
Highest expression (Bgee): lower esophagus mucosa, olfactory segment of nasal mucosa, mucosa of transverse colon, rectum, pancreatic ductal cell.
Genetic regulation across tissues (GTEx eQTL / sQTL)
ELF3 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 8 tissues and its splicing (sQTL) in 1 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
9 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Whole Blood | eqtl | 4.3e-09 | +0.26 | 1:201987177:A:G |
| Breast Mammary Tissue | sqtl | 6.9e-03 | -1.25 | 1:202443905:A:C |
| Artery Coronary | eqtl | 1.3e-02 | +1.48 | 1:201513206:C:T |
| Cells Cultured fibroblasts | eqtl | 1.6e-02 | -0.20 | 1:201256834:T:G |
| Thyroid | eqtl | 1.7e-02 | -0.40 | 1:201680134:G:A |
| Brain Cerebellar Hemisphere | eqtl | 1.7e-02 | +0.30 | 1:201996727:C:T |
| Adipose Subcutaneous | eqtl | 1.8e-02 | +0.60 | 1:202003726:A:G |
| Pituitary | eqtl | 3.7e-02 | -0.83 | 1:201019241:A:AT |
| Esophagus Muscularis | eqtl | 4.9e-02 | -0.15 | 1:201200473:C:T |
FANTOM5 promoters
3 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 7774 | 13.1501 | 570 |
| 7773 | 7.3974 | 630 |
| 7775 | 0.0441 | 22 |
Top tissues by expression
showing 100 of 252 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 99.64 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 99.60 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 99.56 | gold quality |
| rectum | UBERON:0001052 | 99.37 | gold quality |
| pancreatic ductal cell | CL:0002079 | 99.03 | gold quality |
| metanephros cortex | UBERON:0010533 | 98.95 | gold quality |
| gall bladder | UBERON:0002110 | 98.77 | gold quality |
| body of pancreas | UBERON:0001150 | 98.75 | gold quality |
| minor salivary gland | UBERON:0001830 | 98.71 | gold quality |
| esophagus mucosa | UBERON:0002469 | 98.55 | gold quality |
| islet of Langerhans | UBERON:0000006 | 98.05 | gold quality |
| pancreas | UBERON:0001264 | 97.75 | gold quality |
| right uterine tube | UBERON:0001302 | 97.34 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 96.89 | gold quality |
| right lung | UBERON:0002167 | 96.86 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 96.79 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 96.50 | gold quality |
| oviduct epithelium | UBERON:0004804 | 96.37 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 96.29 | gold quality |
| right lobe of liver | UBERON:0001114 | 95.93 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 95.80 | gold quality |
| fallopian tube | UBERON:0003889 | 95.31 | gold quality |
| left uterine tube | UBERON:0001303 | 95.30 | gold quality |
| mouth mucosa | UBERON:0003729 | 95.23 | gold quality |
| mucosa of stomach | UBERON:0001199 | 94.92 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 94.80 | gold quality |
| upper lobe of lung | UBERON:0008948 | 94.56 | gold quality |
| transverse colon | UBERON:0001157 | 94.33 | gold quality |
| vagina | UBERON:0000996 | 93.61 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 93.25 | gold quality |
| small intestine | UBERON:0002108 | 93.20 | gold quality |
| bronchial epithelial cell | CL:0002328 | 93.14 | gold quality |
| bronchus | UBERON:0002185 | 92.94 | gold quality |
| prostate gland | UBERON:0002367 | 92.80 | gold quality |
| ileal mucosa | UBERON:0000331 | 92.79 | gold quality |
| urinary bladder | UBERON:0001255 | 92.65 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 92.52 | gold quality |
| trachea | UBERON:0003126 | 92.07 | gold quality |
| body of stomach | UBERON:0001161 | 91.72 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 91.46 | gold quality |
| stomach | UBERON:0000945 | 91.29 | gold quality |
| colonic mucosa | UBERON:0000317 | 91.26 | gold quality |
| amniotic fluid | UBERON:0000173 | 91.09 | gold quality |
| duodenum | UBERON:0002114 | 90.79 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 90.51 | gold quality |
| colonic epithelium | UBERON:0000397 | 90.29 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 90.01 | gold quality |
| vermiform appendix | UBERON:0001154 | 89.99 | gold quality |
| skin of abdomen | UBERON:0001416 | 88.85 | gold quality |
| lung | UBERON:0002048 | 88.80 | gold quality |
| skin of leg | UBERON:0001511 | 88.61 | gold quality |
| intestine | UBERON:0000160 | 88.49 | gold quality |
| cortex of kidney | UBERON:0001225 | 86.92 | gold quality |
| large intestine | UBERON:0000059 | 86.87 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 86.80 | gold quality |
| caecum | UBERON:0001153 | 86.77 | gold quality |
| kidney | UBERON:0002113 | 86.66 | gold quality |
| colon | UBERON:0001155 | 86.57 | gold quality |
| tonsil | UBERON:0002372 | 86.31 | gold quality |
| urethra | UBERON:0000057 | 85.50 | gold quality |
| fundus of stomach | UBERON:0001160 | 84.91 | gold quality |
| zone of skin | UBERON:0000014 | 84.56 | gold quality |
| liver | UBERON:0002107 | 84.26 | gold quality |
| endocervix | UBERON:0000458 | 83.37 | gold quality |
| sperm | CL:0000019 | 83.02 | gold quality |
| esophagus | UBERON:0001043 | 83.01 | gold quality |
| metanephros | UBERON:0000081 | 81.82 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 81.77 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 81.54 | gold quality |
| adenohypophysis | UBERON:0002196 | 81.31 | gold quality |
| buccal mucosa cell | CL:0002336 | 81.04 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 80.83 | gold quality |
| pylorus | UBERON:0001166 | 80.55 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 80.27 | gold quality |
| thyroid gland | UBERON:0002046 | 80.18 | gold quality |
| mammary duct | UBERON:0001765 | 80.11 | gold quality |
| jejunal mucosa | UBERON:0000399 | 79.35 | gold quality |
| mammary gland | UBERON:0001911 | 79.03 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 78.90 | gold quality |
| uterine cervix | UBERON:0000002 | 78.74 | gold quality |
| endometrium | UBERON:0001295 | 78.63 | gold quality |
| cartilage tissue | UBERON:0002418 | 78.29 | gold quality |
| parotid gland | UBERON:0001831 | 77.95 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 77.48 | gold quality |
| granulocyte | CL:0000094 | 76.90 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 76.84 | gold quality |
| ectocervix | UBERON:0012249 | 76.32 | gold quality |
| pituitary gland | UBERON:0000007 | 75.99 | gold quality |
| oral cavity | UBERON:0000167 | 75.96 | gold quality |
| kidney epithelium | UBERON:0004819 | 75.76 | silver quality |
| caput epididymis | UBERON:0004358 | 74.13 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 73.41 | gold quality |
| female reproductive system | UBERON:0000474 | 73.24 | gold quality |
| lower lobe of lung | UBERON:0008949 | 72.99 | silver quality |
| renal medulla | UBERON:0000362 | 72.20 | gold quality |
| gingival epithelium | UBERON:0001949 | 72.18 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 71.63 | gold quality |
| uterus | UBERON:0000995 | 70.61 | gold quality |
| gingiva | UBERON:0001828 | 69.90 | gold quality |
| cauda epididymis | UBERON:0004360 | 69.88 | gold quality |
Single-cell (SCXA)
Detected in 31 experiment(s), a significant marker in 29.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8495 | yes | 5498.68 |
| E-ANND-2 | yes | 4651.82 |
| E-GEOD-81547 | yes | 3981.70 |
| E-CURD-122 | yes | 3036.51 |
| E-MTAB-8221 | yes | 2703.94 |
| E-MTAB-9906 | yes | 2569.91 |
| E-MTAB-8530 | yes | 2566.05 |
| E-GEOD-124472 | yes | 2348.57 |
| E-CURD-88 | yes | 2261.36 |
| E-MTAB-8410 | yes | 2068.15 |
| E-GEOD-114530 | yes | 1919.80 |
| E-HCAD-10 | yes | 1802.01 |
| E-HCAD-15 | yes | 1314.14 |
| E-MTAB-6308 | yes | 1268.94 |
| E-MTAB-10287 | yes | 1163.77 |
HPA expression
RNA tissue specificity: Tissue enhanced
showing 60 of 63 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Urinary bladder | tissue | 154.3 | high |
| Colon | tissue | 151.3 | medium |
| Small intestine | tissue | 137.1 | medium |
| Duodenum | tissue | 134.6 | medium |
| Esophagus | tissue | 131.3 | not detected |
| Rectum | tissue | 119.9 | medium |
| Stomach 1 | tissue | 115.8 | low |
| Pancreas | tissue | 113.9 | low |
| Vagina | tissue | 92.2 | low |
| Salivary gland | tissue | 79.6 | medium |
| Gallbladder | tissue | 72.9 | medium |
| Lung | tissue | 35.0 | not detected |
| Fallopian tube | tissue | 33.5 | low |
| Breast | tissue | 29.2 | not detected |
| Cervix | tissue | 25.6 | low |
| Liver | tissue | 24.1 | not detected |
| Prostate | tissue | 21.8 | not detected |
| Kidney | tissue | 19.1 | low |
| Tonsil | tissue | 15.0 | high |
| Seminal vesicle | tissue | 14.0 | low |
| Endometrium 1 | tissue | 12.1 | high |
| Appendix | tissue | 12.0 | medium |
| Parathyroid gland | tissue | 7.9 | low |
| Smooth muscle | tissue | 6.8 | not detected |
| Placenta | tissue | 5.7 | medium |
| Epididymis | tissue | 4.3 | not detected |
| Pituitary gland | tissue | 3.7 | |
| Thyroid gland | tissue | 2.4 | not detected |
| Postcentral gyrus | tissue | 2.3 | |
| Choroid plexus | tissue | 2.1 | |
| Skin 1 | tissue | 1.6 | not detected |
| Hippocampus | tissue | 1.6 | not detected |
| Adipose tissue | tissue | 1.5 | not detected |
| Thymus | tissue | 1.5 | |
| Nucleus accumbens | tissue | 1.4 | |
| Locus coeruleus | tissue | 1.3 | |
| Basal ganglia | tissue | 1.1 | not detected |
| Retina | tissue | 0.9 | |
| Putamen | tissue | 0.9 | |
| Bone marrow | tissue | 0.7 | not detected |
| Hippocampal formation | tissue | 0.7 | |
| Ventral forebrain | tissue | 0.7 | |
| Superior colliculi | tissue | 0.5 | |
| Lymph node | tissue | 0.3 | not detected |
| Heart muscle | tissue | 0.2 | not detected |
| Pons | tissue | 0.2 | |
| Spleen | tissue | 0.2 | not detected |
| Spinal cord | tissue | 0.2 | |
| Olfactory bulb | tissue | 0.2 | |
| Septum | tissue | 0.2 | |
| Testis | tissue | 0.1 | not detected |
| Ovary | tissue | 0.1 | not detected |
| Skeletal muscle | tissue | 0.1 | not detected |
| Midbrain | tissue | 0.1 | |
| Medulla oblongata | tissue | 0.1 | |
| Thalamus | tissue | 0.1 | |
| Hypothalamus | tissue | 0.1 | |
| Substantia nigra | tissue | 0.1 | |
| Adrenal gland | tissue | 0.1 | not detected |
| Periaqueductal gray | tissue | 0.1 |
Brain sub-regions (HPA Brain Atlas): detected in 188; highest nTPM — Flocculonodular lobe (3.1), Vermis (3.0), Cerebellar cortex (2.5), Parietal operculum (2.4), Frontal eye field (2.3).
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
showing 30 of 35 targets:
| Target | Regulation |
|---|---|
| ANGPT1 | |
| AR | |
| CCL20 | Unknown |
| CCND3 | |
| CLDN7 | Unknown |
| COL2A1 | |
| EGR1 | Unknown |
| EHF | Activation |
| ERBB2 | |
| FOLH1 | |
| FOXC1 | |
| GADD45GIP1 | |
| HP | |
| IL1B | |
| KLK3 | |
| KRT4 | Repression |
| KRT8 | |
| LYZ | Activation |
| MED23 | |
| MMP13 | Unknown |
| MMP9 | Repression |
| NOS2 | |
| NOTCH3 | |
| POU5F1 | Unknown |
| PRR9 | Unknown |
| PTGS2 | Unknown |
| SPRR1A | Unknown |
| SPRR1B | Activation |
| SPRR2A | Activation |
| SPRR3 | Unknown |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0640.1 | ELF3 | Ets-related |
| MA0640.2 | ELF3 | Ets-related |
| MA0640.3 | ELF3 | Ets-related |
JASPAR matrix evidence (PMIDs): PMID:20517297, PMID:9234700
Upstream regulators (CollecTRI, top): AR, FOXA1, KDM5B, NFKB1, NFKB, RELA
miRNA regulators (miRDB)
Targeting ELF3 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).
showing 30 of 84 miRNAs:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
| HSA-MIR-548J-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548O-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548W | 99.94 | 71.24 | 3488 |
| HSA-MIR-548Y | 99.94 | 71.28 | 3514 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-544A | 99.84 | 68.66 | 1965 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
Functional genomics
gnomAD constraint: pLI 0.015, LOEUF 0.678, missense Z 2.01 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD)
ENST00000367284 splits into 3 regions with different missense tolerance; 1 is missense-constrained (≈4% of the expected missense variation). Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD
| Region (GRCh38) | Missense obs / exp | o/e | Constrained |
|---|---|---|---|
| 1:202,011,137–202,013,834 | 311 / 351.2 | 0.89 | no |
| 1:202,013,835–202,013,879 | 1 / 20.6 | 0.05 | yes (p 1.6e-05) |
| 1:202,013,880–202,015,320 | 61 / 115.9 | 0.53 | no |
Literature-anchored findings (GeneRIF, showing 40)
- ErbB2 activation of ESX gene expression (PMID:12032832)
- ESX regulates HER2 expression by binding to DRIP130 (PMID:12242338)
- co-ordinate activation and binding of ESE-1, Sp1, and NF-kappaB to the MIP-3alpha promoter is required for maximal gene expression by cytokine-stimulated Caco-2 human intestinal epithelial cells. (PMID:12414801)
- Ese-1 binds with Skn-1a in human cells (PMID:12624109)
- ERT mediates the expression of TGF-beta RII, and the transcriptional inhibition of ets-related transcription factor could be a one of the mechanisms of colonic carcinogenesis (PMID:14582709)
- results support a role for the ETS factor ESE-1 as a novel transcriptional regulator of angiopoietin-1 gene regulation in the setting of inflammation (PMID:14715662)
- ESX expression alone confers a transformed and in vitro metastatic phenotype to otherwise normal MCF-12A cells (PMID:14767472)
- activity of ESE-1 is positively and negatively modulated by other interacting proteins including Ku70, Ku86, p300, and CBP. (PMID:15075319)
- stably expressed green fluorescent protein-ESE-1 transforms MCF-12A human mammary epithelial cells; and the ESE-1 SAR domain, acting in the cytoplasm, is necessary and sufficient to mediate this transformation (PMID:15169914)
- the induction of claudin7 expression by ELF3 appears critical to the formation of the epithelial structures in biphasic synovial sarcoma (PMID:17060315)
- AT-hook domain, as well as serine- and aspartic acid-rich domain but not the pointed domain, is necessary for Elf3 activation of promoter activity. (PMID:17148437)
- ESE-1 functions are coordinately regulated by Pak1 phosphorylation and beta-TrCP-dependent ubiquitin-proteasome pathways. (PMID:17491012)
- Intracellular ESE-1 staining in chondrocytes in cartilage from patients with osteoarthritis, but not in normal cartilage, further suggests a fundamental role for ESE-1 in cartilage degeneration and suppression of repair. (PMID:18044710)
- ESE-1 negatively regulates the invasion of oral squamous cell carcinoma via transcriptional suppression of MMP-9. (PMID:18302674)
- ESE-1 and ESE-3 play an important role in airway inflammation. (PMID:18475289)
- activation of ESE-1 via enhanced nuclear translocation mediates tolfenamic acid-induced EGR-1 expression, which plays a critical role in the activation of apoptosis (PMID:19074849)
- ESE-1 contains signal sequences that play a critical role in regulating its subcellular localization and function, and that an intact SAR domain mediates mammary epithelial cell transformation exclusively in the cytoplasm (PMID:21871131)
- a novel role for ELF3 as a procatabolic factor that may contribute to cartilage remodeling and degradation by regulating MMP13 gene transcription. (PMID:22158614)
- ELF3 and CEA expression showed statistically significant differences among four lymph node groups: lymph nodes from patients with colorectal cancer categorized into three Dukes’ stages and LNs from patients with ulcerative colitis. (PMID:22993316)
- Frequent copy number gains at 1q21 and 1q32 are associated with overexpression of the ETS transcription factors ETV3 and ELF3 in breast cancer irrespective of molecular subtypes. (PMID:23329352)
- The physical interaction between ELF3 and androgen receptor (AR) inhibits the recruitment of AR to specific androgen response elements within target gene promoters. (PMID:23435425)
- The concordant upregulation of ESE1/ELF3 and NF-kappaB in human prostate tumors. (PMID:23687337)
- ELF3 is a candidate transcriptional regulator involved in human urothelial cytodifferentiation. (PMID:24374157)
- data suggest that polyomavirus enhancer activator 3 and epithelium-specific transcription factor-1 may play important roles in pluri potent and tumorigenic embryonic carcinoma cells. (PMID:24694612)
- data identify Elf3 as a pivotal driver for beta-catenin signaling in CRC, and highlight potential prognostic and therapeutic significance of Elf3 in CRC. (PMID:24874735)
- ESE-1 actS as an upstream effector to regulate OCT4 transcription in NCCIT pluripotent embryonic carcinoma cells. (PMID:24971534)
- our data suggested that ESE1/ELF3 may promote the UC progression via accelerating NF-kappaB activation and thus facilitating IEC apoptosis. (PMID:25926267)
- suggest that ESE-1 may play a role in regulating airway inflammation by regulating ICAM-1 expression (PMID:26185364)
- ELF3 is a frequently mutated tumor suppressor gene of periampullary tumors. (PMID:26804919)
- ELF3 is a novel transcriptional repressor of estrogen receptor alpha in breast cancer cells. (PMID:26920025)
- data suggest that interactions between ESE1 and beta-/alpha-catenins might be a mechanism by which the ESE1 protein determines the beta-catenin function and tumorigenesis (PMID:27272778)
- ELF3 interacts directly with the HMG domain of Sox9. Importantly, overexpression of ELF3 significantly decreased Sox9/CBP-dependent HAT activity. (PMID:27310669)
- These findings position RIPK4 upstream of a hierarchal IRF6-GRHL3-ELF3 transcription factor pathway in keratinocytes. (PMID:27667567)
- Survival analysis showed that the non-small cell lung carcinoma patients with enhanced expression of CK7, ELF3, EGFR, and EphB4 mRNA in peripheral blood leukocytes had poorer disease-free survival and overall survival than those without. (PMID:27827952)
- Data indicate that the transcription factor E74-like factor 3 (ELF3) was one of the genes whose expression was upregulated in microdissected ovarian cancer cells of long-term survivors. (PMID:28199976)
- Epithelium-specific ETS transcription factor 1 (ESE1), a member of the Ets transcription factor family. (PMID:28247944)
- Data suggest ESE-1 silencing as a mean to treat HER2(+) patients who show resistance to anti-HER2 therapy. (PMID:29187433)
- Data suggest that ELF3 is up-regulated at mRNA and protein levels in NSCLC (non-small cell lung cancer) tissues compared to corresponding control lung tissue; expression level of ELF3 is correlated with overall survival of patients with NSCLC. (PMID:29208568)
- ELF3 knockdown reversed epithelial-mesenchymal transition via repressing ZEB1 expression through miR-141-3p upregulation. (PMID:29523781)
- Leptin synergizes with IL-1beta in inducing ELF3 expression in chondrocytes. (PMID:29550824)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | elf3 | ENSDARG00000077982 |
| mus_musculus | Elf3 | ENSMUSG00000003051 |
| rattus_norvegicus | Elf3 | ENSRNOG00000006330 |
Paralogs (28): ETV1 (ENSG00000006468), ETV7 (ENSG00000010030), SPI1 (ENSG00000066336), ELF4 (ENSG00000102034), ETV2 (ENSG00000105672), ERF (ENSG00000105722), ELF2 (ENSG00000109381), ELK3 (ENSG00000111145), ETV3 (ENSG00000117036), ELF1 (ENSG00000120690), SPDEF (ENSG00000124664), ELK1 (ENSG00000126767), ETS1 (ENSG00000134954), EHF (ENSG00000135373), ELF5 (ENSG00000135374), ETV6 (ENSG00000139083), FLI1 (ENSG00000151702), GABPA (ENSG00000154727), ERG (ENSG00000157554), ETS2 (ENSG00000157557), ELK4 (ENSG00000158711), FEV (ENSG00000163497), SPIC (ENSG00000166211), ETV4 (ENSG00000175832), ETV5 (ENSG00000244405), ETV3L (ENSG00000253831), ERFL (ENSG00000268041), SPIB (ENSG00000269404)
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:1101781) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 10 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| abnormal enterocyte morphology | 1 |
| abnormal intestinal epithelium morphology | 1 |
| decreased body size | 1 |
| abnormal intestine goblet cell morphology | 1 |
| diarrhea | 1 |
| cachexia | 1 |
| lethargy | 1 |
| postnatal lethality, incomplete penetrance | 1 |
| embryonic lethality during organogenesis, incomplete penetrance | 1 |
| preweaning lethality, incomplete penetrance | 1 |
Additional cross-species homologs
Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.
| Organism | UniProt | Identity | Method |
|---|---|---|---|
| Drosophila melanogaster | P11536 | 99.8% | Diamond |
| Pan paniscus | A1YG61 | 99.7% | Diamond |
| Pan troglodytes | A2T737 | 99.7% | Diamond |
| Gorilla gorilla gorilla | A1YF15 | 99.6% | Diamond |
| Gallus gallus | P13474 | 99.5% | Diamond |
| Xenopus laevis | P18755 | 98.5% | Diamond |
| Bos taurus | Q2KIC2 | 98.1% | Diamond |
| Ateles geoffroyi | A2D4Z7 | 97.5% | Diamond |
| Sus scrofa | Q6PKU1 | 96.7% | Diamond |
| Lytechinus variegatus | P29773 | 93.8% | Diamond |
| Caenorhabditis elegans | Q18579 | 87.2% | Diamond |
| Drosophila virilis | Q7M3M6 | 79.6% | Diamond |
| Paleosuchus palpebrosus | Q9I8M6 | 65.2% | Diamond |
| Avian leukemia virus e26 | P01105 | 99.4% | Diamond |
Genomic neighbors (locus context)
Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).
| Symbol | Type | Entrez |
|---|---|---|
| ELF3-AS1 | ncRNA | 102723465 |
| SNORA70H | snoRNA | 109616993 |
| RNPEP | protein-coding | 6051 |
| MIR6740 | ncRNA | 102465443 |
| ARL8A | protein-coding | 127829 |
| PTPN7 | protein-coding | 5778 |
| GPR37L1 | protein-coding | 9283 |
| TIMM17A | protein-coding | 10440 |
Protein
Protein identifiers
ETS-related transcription factor Elf-3 — P78545 (reviewed: P78545)
Alternative names: E74-like factor 3, Epithelial-restricted with serine box, Epithelium-restricted Ets protein ESX, Epithelium-specific Ets transcription factor 1
All UniProt accessions (5): P78545, A0A8E8R951, A0A8E8R9T1, A0A8E8V1S5, Q5SR36
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional activator that binds and transactivates ETS sequences containing the consensus nucleotide core sequence GGA[AT]. Acts synergistically with POU2F3 to transactivate the SPRR2A promoter and with RUNX1 to transactivate the ANGPT1 promoter. Also transactivates collagenase, CCL20, CLND7, FLG, KRT8, NOS2, PTGS2, SPRR2B, TGFBR2 and TGM3 promoters. Represses KRT4 promoter activity. Involved in mediating vascular inflammation. May play an important role in epithelial cell differentiation and tumorigenesis. May be a critical downstream effector of the ERBB2 signaling pathway. May be associated with mammary gland development and involution. Plays an important role in the regulation of transcription with TATA-less promoters in preimplantation embryos, which is essential in preimplantation development.
Subunit / interactions. Interacts with TBP. Interacts with CREBBP and EP300; these act as transcriptional coactivators of ELF3 and positively modulate its function. Interacts with XRCC5/KU86 and XRCC6/KU70; these inhibit the ability of ELF3 to bind DNA and negatively modulate its transcriptional activity. Associated with CLND7 and POU2F3. Interacts with ZNF768.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Expressed exclusively in tissues containing a high content of terminally differentiated epithelial cells including mammary gland, colon, trachea, kidney, prostate, uterus, stomach and skin.
Domain organisation. The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.
Induction. Transcriptionally regulated by ERBB2 receptor signaling in breast cancer epithelial cells. Up-regulated by phorbol 12-myristate 13-acetate (PMA) in bronchial epithelial cells. By retinoic acid in MCF-7 mammary epithelial cells (at protein level).
Similarity. Belongs to the ETS family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P78545-1 | 1, ESE-1b | yes |
| P78545-2 | 2, ESE-1a |
RefSeq proteins (2): NP_001107781, NP_004424* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000418 | Ets_dom | Domain |
| IPR003118 | Pointed_dom | Domain |
| IPR013761 | SAM/pointed_sf | Homologous_superfamily |
| IPR036388 | WH-like_DNA-bd_sf | Homologous_superfamily |
| IPR036390 | WH_DNA-bd_sf | Homologous_superfamily |
| IPR042693 | Elf-3_PNT | Domain |
| IPR046328 | ETS_fam | Family |
Pfam: PF00178, PF02198
UniProt features (33 total): sequence conflict 11, helix 6, mutagenesis site 4, compositionally biased region 3, chain 1, domain 1, DNA-binding region 1, strand 1, turn 1, region of interest 1, short sequence motif 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
1 structures by resolution:
| PDB | Title | Method | Resolution (Å) |
|---|---|---|---|
| 2E8P | Solution structure of the N-terminal SAM-domain of E74-like factor 3 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P78545-F1 | 66.32 | 0.20 |
Human Protein Atlas
Protein class: Predicted intracellular proteins, Transcription factors, Helix-turn-helix domains, Cancer-related genes, Mutated cancer genes, Mutational cancer driver genes
Protein evidence: Evidence at protein level
Subcellular location (HPA, imaging): nucleoplasm
Antibody reliability (HPA): IH enhanced · IF enhanced
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (4)
| Position | Phenotype |
|---|---|
| 247–250 | no effect on transcriptional repression on krt4 promoter. |
| 315 | partially abrogates repressive effect on the krt4 promoter; when associated with a-319. |
| 319 | partially abrogates repressive effect on the krt4 promoter; when associated with a-315. |
| 334–337 | partially abrogates repressive effect on the krt4 promoter. |
Function
Pathways and Gene Ontology
Reactome pathways
1 curated (TAS) of 4; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
4 pathways:
| ID | Pathway | Evidence |
|---|---|---|
| R-HSA-1912408 | Pre-NOTCH Transcription and Translation | curated |
| R-HSA-1912422 | Pre-NOTCH Expression and Processing | — |
| R-HSA-162582 | Signal Transduction | — |
| R-HSA-157118 | Signaling by NOTCH | — |
MSigDB gene sets: 220 (showing top):
REACTOME_SIGNALING_BY_NOTCH, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_MAMMARY_GLAND_MORPHOGENESIS, GOBP_GLAND_MORPHOGENESIS, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_INFLAMMATORY_RESPONSE, SCHWAB_TARGETS_OF_BMYB_POLYMORPHIC_VARIANTS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, TGACCTY_ERR1_Q2, HATADA_METHYLATED_IN_LUNG_CANCER_DN, MODULE_66, BORLAK_LIVER_CANCER_EGF_UP, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN
GO Biological Process (8): DNA-templated transcription (GO:0006351), regulation of transcription by RNA polymerase II (GO:0006357), inflammatory response (GO:0006954), cell differentiation (GO:0030154), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of transcription by RNA polymerase II (GO:0045944), mammary gland involution (GO:0060056), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (8): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA-binding transcription factor activity (GO:0003700), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565)
GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737)
Reactome top-level categories
3 top-level categories:
| Category | Pathways |
|---|---|
| Pre-NOTCH Expression and Processing | 1 |
| Signal Transduction | 1 |
| Signaling by NOTCH | 1 |
GO top-level categories
33 GO namespaces:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 3 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| cellular anatomical structure | 3 |
| transcription by RNA polymerase II | 2 |
| DNA-templated transcription | 2 |
| regulation of transcription by RNA polymerase II | 2 |
| gene expression | 1 |
| RNA biosynthetic process | 1 |
| defense response | 1 |
| cellular developmental process | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| positive regulation of DNA-templated transcription | 1 |
| tissue remodeling | 1 |
| mammary gland morphogenesis | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription activator activity | 1 |
| positive regulation of transcription by RNA polymerase II | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| DNA binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
Experimentally-supported GO annotations
GO terms backed by direct experimental evidence (ECO experimental codes) — 6 of 20 annotations. The rest are phylogenetic / computational / electronic (IEA).
6 experimentally-supported GO terms:
| GO term | NS | Evidence |
|---|---|---|
| inflammatory response | BP | expression pattern |
| negative regulation of DNA-templated transcription | BP | direct assay |
| positive regulation of transcription by RNA polymerase II | BP | direct assay |
| nucleoplasm | CC | direct assay |
| DNA-binding transcription activator activity, RNA polymerase II-specific | MF | direct assay |
| sequence-specific double-stranded DNA binding | MF | direct assay |
Protein interactions and networks
STRING
showing 16 of 1,264 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ELF3 | SPRR2A | P35326 | 783 |
| ELF3 | POU2F3 | Q9UKI9 | 740 |
| ELF3 | ESX1 | Q8N693 | 718 |
| ELF3 | CCL20 | P78556 | 651 |
| ELF3 | SPTBN1 | Q01082 | 610 |
| ELF3 | SPTB | P11277 | 557 |
| ELF3 | EPHB2 | P29323 | 547 |
| ELF3 | ELF4 | Q99607 | 540 |
| ELF3 | TYRO3 | Q06418 | 499 |
| ELF3 | PRR9 | Q5T870 | 492 |
| ELF3 | POU2F2 | P09086 | 432 |
| ELF3 | WFDC5 | Q8TCV5 | 429 |
| ELF3 | ARL8A | Q96BM9 | 407 |
| ELF3 | PIK3CA | P42336 | 402 |
| ELF3 | TBP | P20226 | 401 |
| ELF3 | ARID1A | O14497 | 401 |
IntAct
Human interaction partners of ELF3 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
showing 30 of 46 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| NFE2L2 | physical association | 0.580 | 5 |
| RELA | physical association | 0.460 | 2 |
| PRKCI | physical association | 0.400 | 2 |
| APBA3 | physical association | 0.370 | 1 |
| CCL2 | physical association | 0.370 | 1 |
| CCL24 | physical association | 0.370 | 1 |
| IL23A | physical association | 0.370 | 1 |
| IL36A | physical association | 0.370 | 1 |
| UBE2D1 | physical association | 0.370 | 1 |
| UBE2D2 | physical association | 0.370 | 1 |
| NOTCH3 | association | 0.350 | 1 |
| RSL1D1 | association | 0.350 | 1 |
| SMARCA4 | proximity | 0.270 | 4 |
| FBXW7 | proximity | 0.270 | 2 |
| AKT1 | proximity | 0.270 | 1 |
| PTEN | proximity | 0.270 | 1 |
| SPOP | proximity | 0.270 | 1 |
| TP53 | proximity | 0.270 | 1 |
| TRIM24 | proximity | 0.270 | 1 |
| AKAP9 | physical association | 0.000 | 1 |
| ATIC | physical association | 0.000 | 1 |
| CALR | physical association | 0.000 | 1 |
| EEF1D | physical association | 0.000 | 1 |
| EHF | physical association | 0.000 | 1 |
| ETFA | physical association | 0.000 | 1 |
| EWSR1 | physical association | 0.000 | 1 |
| FSCN1 | physical association | 0.000 | 1 |
| GANAB | physical association | 0.000 | 1 |
| GARS1 | physical association | 0.000 | 1 |
| H2BC10 | physical association | 0.000 | 1 |
BioGRID (68 interactions; top human partners by supporting records): MED23 (Reconstituted Complex; 6 records), NFKB1 (Affinity Capture-Western; 3 records), AR (Affinity Capture-Western; 2 records), EP300 (Affinity Capture-MS; 2 records), GADD45GIP1 (Affinity Capture-Western; 2 records), NFE2L2 (Two-hybrid; 2 records), PAK1 (Biochemical Activity; 2 records), XRCC5 (Affinity Capture-MS; 2 records), XRCC6 (Affinity Capture-MS; 2 records), AIMP1 (Affinity Capture-MS), ATIC (Affinity Capture-MS), BTRC (Affinity Capture-Western), CALR (Affinity Capture-MS), CBR3 (Affinity Capture-MS), CECR2 (Affinity Capture-MS)
SIGNOR signaling
4 signaling interactions:
| A | Effect | B | Mechanism |
|---|---|---|---|
| PAK1 | up-regulates | ELF3 | phosphorylation |
| ELF3 | “down-regulates quantity by repression” | KRT4 | “transcriptional regulation” |
| ELF3 | “up-regulates quantity by expression” | SPRR2A | “transcriptional regulation” |
| ELF3 | “up-regulates quantity by expression” | SPRR1B | “transcriptional regulation” |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 46 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| KEAP1-NFE2L2 pathway | 6 | 17.6× | 5e-04 |
| Cellular response to chemical stress | 5 | 17.4× | 2e-03 |
| Downstream TCR signaling | 5 | 15.7× | 3e-03 |
| Interleukin-4 and Interleukin-13 signaling | 5 | 12.6× | 5e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| proteasome-mediated ubiquitin-dependent protein catabolic process | 7 | 8.1× | 5e-03 |
| positive regulation of gene expression | 8 | 6.9× | 5e-03 |
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: activating (oncogene-like) across 3 cancer types — BLCA, CHOL, COADREAD.
intOGen’s role is a computational inference from cohort mutation patterns and may diverge from the gene’s curated/literature role; read it alongside the evidence above.
Genetic variants
Variant evidence for ELF3: 36 ClinVar records (0 pathogenic / likely pathogenic); 1 GWAS association.
ClinVar
36 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 20 |
| Likely benign | 3 |
| Benign | 1 |
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 31 predictions of 631):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 1:202011127–202011128 | acceptor_loss | 1.0000 | 6 |
| 1:202011300–202011301 | donor_loss | 1.0000 | 5 |
| 1:202011945 | acceptor_gain | 1.0000 | |
| 1:202011956 | acceptor_loss | 1.0000 | 2 |
| 1:202012121 | donor_gain | 1.0000 | |
| 1:202012166 | donor_gain | 1.0000 | |
| 1:202012179–202012180 | donor_loss | 1.0000 | 3 |
| 1:202012225 | donor_gain | 1.0000 | |
| 1:202012342–202012343 | acceptor_loss | 1.0000 | 6 |
| 1:202012437–202012438 | donor_loss | 1.0000 | 5 |
AlphaMissense
775 missense substitutions predicted likely pathogenic (of 2,454 scored), across 173 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:
| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
|---|---|---|---|
| M324 | 9 | 0.998 | 1.000 |
| M333 | 9 | 0.963 | 0.999 |
| F303 | 8 | 0.998 | 1.000 |
| S330 | 8 | 0.997 | 1.000 |
| F354 | 8 | 0.996 | 1.000 |
| F305 | 8 | 0.993 | 1.000 |
| N321 | 8 | 0.991 | 0.999 |
| F278 | 8 | 0.988 | 1.000 |
| H274 | 8 | 0.987 | 1.000 |
| D281 | 8 | 0.955 | 0.995 |
| F114 | 8 | 0.942 | 0.988 |
| D346 | 8 | 0.936 | 0.983 |
| N357 | 8 | 0.844 | 0.961 |
| W295 | 7 | 1.000 | 1.000 |
| W315 | 7 | 1.000 | 1.000 |
| W276 | 7 | 0.999 | 1.000 |
| E327 | 7 | 0.999 | 1.000 |
| R334 | 7 | 0.999 | 1.000 |
| W361 | 7 | 0.995 | 0.999 |
| K328 | 7 | 0.994 | 1.000 |
HPA cancer prognostics
RNA cancer specificity: Low cancer specificity
Disease associations
OMIM: gene MIM:602191 | disease phenotypes:
GWAS associations
1 associations:
| Study | Trait | p-value |
|---|---|---|
| GCST011956_94 | Systemic lupus erythematosus | 4e-9 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL2111426 (PROTEIN-PROTEIN INTERACTION)
PharmGKB: 1 entry (CPIC guideline: no)
ChEMBL bioactivities
4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.23 | Kd | 590 | nM | CHEMBL1077445 |
| 6.21 | Kd | 620 | nM | CHEMBL1077474 |
| 6.00 | Kd | 1000 | nM | CHEMBL1077454 |
| 5.23 | Kd | 5900 | nM | CHEMBL1077475 |
PubChem BioAssay actives
4 with measured affinity, of 14 total; 4 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 5-[[(3S,5R)-3-(2-hydroxyethyl)-3-(2-methylpropyl)-2-[[4-(trifluoromethyl)phenyl]methyl]-1,2-oxazolidin-5-yl]methylcarbamothioylamino]-2-(3-hydroxy-6-oxoxanthen-9-yl)benzoic acid | 469608: Inhibition of ESX-Med23 interaction in human BT474 cells assessed as down regulation of ErbB2 expression by Western blotting | kd | 0.5900 | uM |
| 5-[[(3S,5R)-3-(2-hydroxyethyl)-3-(2-methylpropyl)-2-[(4-phenylphenyl)methyl]-1,2-oxazolidin-5-yl]methylcarbamothioylamino]-2-(3-hydroxy-6-oxoxanthen-9-yl)benzoic acid | 469608: Inhibition of ESX-Med23 interaction in human BT474 cells assessed as down regulation of ErbB2 expression by Western blotting | kd | 0.6200 | uM |
| 5-[[(3S,5R)-3-(2-hydroxyethyl)-3-(2-methylpropyl)-2-(naphthalen-2-ylmethyl)-1,2-oxazolidin-5-yl]methylcarbamothioylamino]-2-(3-hydroxy-6-oxoxanthen-9-yl)benzoic acid | 469608: Inhibition of ESX-Med23 interaction in human BT474 cells assessed as down regulation of ErbB2 expression by Western blotting | kd | 1.0000 | uM |
| 5-[[(3S,5R)-2-benzyl-3-(2-hydroxyethyl)-3-(2-methylpropyl)-1,2-oxazolidin-5-yl]methylcarbamothioylamino]-2-(3-hydroxy-6-oxoxanthen-9-yl)benzoic acid | 469608: Inhibition of ESX-Med23 interaction in human BT474 cells assessed as down regulation of ErbB2 expression by Western blotting | kd | 5.9000 | uM |
CTD chemical–gene interactions
93 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, decreases expression, increases methylation, affects cotreatment | 6 |
| sodium arsenite | affects cotreatment, increases abundance, decreases expression | 4 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 4 |
| Benzo(a)pyrene | affects methylation, decreases methylation, increases expression | 4 |
| Estradiol | decreases expression, affects expression, increases reaction, affects cotreatment | 4 |
| Tetrachlorodibenzodioxin | increases expression | 4 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| perfluorooctane sulfonic acid | decreases expression, increases expression | 3 |
| Calcitriol | decreases expression, increases expression, affects cotreatment | 3 |
| Smoke | decreases expression, increases abundance, increases expression | 3 |
| Particulate Matter | decreases expression, increases abundance, increases expression, affects cotreatment | 3 |
| methylselenic acid | affects expression, increases expression | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Microplastics | increases abundance, decreases expression | 2 |
| Ethanol | affects cotreatment, increases expression, increases abundance | 2 |
| Cisplatin | affects expression, affects cotreatment, increases expression | 2 |
| Formaldehyde | increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Testosterone | affects cotreatment, increases expression, decreases expression | 2 |
| Tretinoin | increases expression | 2 |
| Fenretinide | increases expression | 2 |
| Raloxifene Hydrochloride | affects cotreatment, decreases expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| Glupearl 19S | increases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| lead acetate | decreases expression | 1 |
| arsenite | decreases expression, increases abundance | 1 |
ChEMBL screening assays
6 unique, capped per target: 6 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1099983 | Binding | Inhibition of ESX-Med23 interaction in human BT474 cells assessed as down regulation of ErbB2 expression up to 50 uM by Western blotting | Inhibition of ErbB2(Her2) expression with small molecule transcription factor mimics. — *Bioorg Med Chem Lett* |
Cellosaurus cell lines
6 cell lines: 3 embryonic stem cell, 2 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A1H2 | SEES3-1V human ELF3, clone1 | Embryonic stem cell | Male |
| CVCL_A1H3 | SEES3-1V human ELF3, clone2 | Embryonic stem cell | Male |
| CVCL_A1H4 | SEES3-1V human ELF3, clone3 | Embryonic stem cell | Male |
| CVCL_D7PB | Ubigene A-549 ELF3 KO | Cancer cell line | Male |
| CVCL_D9E8 | Ubigene HEK293 ELF3 KO | Transformed cell line | Female |
| CVCL_E0CK | Ubigene HeLa ELF3 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
Predicted chemistry — Sugi Predict
The predicted patent-compound landscape for ELF3 across ~30M SureChEMBL compounds — explore on Sugi Predict.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.