EDF1
gene geneOn this page
Also known as EDF-1CFAP280
Summary
EDF1 (endothelial differentiation related factor 1, HGNC:3164) is a protein-coding gene on chromosome 9q34.3, encoding Endothelial differentiation-related factor 1 (O60869). Transcriptional coactivator stimulating NR5A1 and ligand-dependent NR1H3/LXRA and PPARG transcriptional activities.
This gene encodes a protein that may regulate endothelial cell differentiation, lipid metabolism, and hormone-induced cardiomyocyte hypertrophy. The encoded protein has also been found to act as a transcriptional coactivator by interconnecting the general transcription factor TATA element-binding protein (TBP) and gene-specific activators. Alternate splicing results in multiple transcript variants.
Source: NCBI Gene 8721 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 21 total — 1 pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_003792
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3164 |
| Approved symbol | EDF1 |
| Name | endothelial differentiation related factor 1 |
| Location | 9q34.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | EDF-1, CFAP280 |
| Ensembl gene | ENSG00000107223 |
| Ensembl biotype | protein_coding |
| OMIM | 605107 |
| Entrez | 8721 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 7 protein_coding
ENST00000224073, ENST00000371648, ENST00000371649, ENST00000881208, ENST00000881209, ENST00000881210, ENST00000936807
RefSeq mRNA: 5 — MANE Select: NM_003792
NM_001281297, NM_001281298, NM_001281299, NM_003792, NM_153200
CCDS: CCDS65193, CCDS7011, CCDS7012
Canonical transcript exons
ENST00000224073 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000733887 | 136863288 | 136863448 |
| ENSE00000870750 | 136863820 | 136863871 |
| ENSE00000870751 | 136862119 | 136862345 |
| ENSE00001042853 | 136866181 | 136866308 |
| ENSE00001364523 | 136862906 | 136862999 |
Expression profiles
Bgee: expression breadth ubiquitous, 293 present calls, max score 99.49.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 447.4172 / max 1577.4517, expressed in 1828 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 103230 | 367.5183 | 1828 |
| 103228 | 43.4167 | 1820 |
| 103229 | 36.4823 | 1821 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| parotid gland | UBERON:0001831 | 99.49 | gold quality |
| adenohypophysis | UBERON:0002196 | 99.47 | gold quality |
| body of pancreas | UBERON:0001150 | 99.45 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 99.44 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 99.43 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 99.42 | gold quality |
| duodenum | UBERON:0002114 | 99.39 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 99.37 | gold quality |
| pituitary gland | UBERON:0000007 | 99.36 | gold quality |
| jejunal mucosa | UBERON:0000399 | 99.35 | gold quality |
| cerebellar cortex | UBERON:0002129 | 99.34 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 99.34 | gold quality |
| body of stomach | UBERON:0001161 | 99.33 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 99.32 | gold quality |
| left adrenal gland | UBERON:0001234 | 99.31 | gold quality |
| left ovary | UBERON:0002119 | 99.31 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 99.31 | gold quality |
| skin of abdomen | UBERON:0001416 | 99.30 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 99.30 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 99.29 | gold quality |
| right adrenal gland | UBERON:0001233 | 99.29 | gold quality |
| right frontal lobe | UBERON:0002810 | 99.29 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 99.29 | gold quality |
| granulocyte | CL:0000094 | 99.28 | gold quality |
| right ovary | UBERON:0002118 | 99.28 | gold quality |
| cingulate cortex | UBERON:0003027 | 99.28 | gold quality |
| metanephros cortex | UBERON:0010533 | 99.28 | gold quality |
| apex of heart | UBERON:0002098 | 99.27 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 99.27 | gold quality |
| skin of leg | UBERON:0001511 | 99.26 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-130148 | yes | 4.51 |
| E-GEOD-109979 | no | 208.93 |
| E-GEOD-125970 | no | 74.34 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): GATA4, SP1, SP3, TBP
miRNA regulators (miRDB)
24 targeting EDF1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-1915-3P | 99.58 | 66.79 | 1988 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-4708-3P | 99.51 | 67.99 | 870 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-6165 | 99.44 | 67.12 | 1389 |
| HSA-MIR-329-5P | 99.27 | 68.11 | 1597 |
| HSA-MIR-4784 | 99.15 | 67.41 | 1733 |
| HSA-MIR-5001-5P | 99.05 | 66.76 | 1972 |
| HSA-MIR-3619-5P | 99.00 | 68.87 | 2308 |
| HSA-MIR-1207-3P | 98.99 | 66.22 | 1532 |
| HSA-MIR-1304-5P | 98.90 | 68.58 | 1054 |
| HSA-MIR-3150B-3P | 98.81 | 67.21 | 1728 |
| HSA-MIR-214-3P | 98.71 | 68.12 | 2128 |
| HSA-MIR-761 | 98.71 | 68.07 | 2051 |
| HSA-MIR-3188 | 98.58 | 65.60 | 878 |
| HSA-MIR-5008-5P | 98.42 | 65.87 | 1019 |
| HSA-MIR-514A-3P | 96.43 | 67.77 | 1048 |
| HSA-MIR-514B-3P | 96.43 | 67.77 | 1048 |
| HSA-MIR-6765-5P | 94.51 | 62.65 | 164 |
| HSA-MIR-2277-3P | 91.94 | 62.27 | 299 |
| HSA-MIR-6089 | 89.72 | 61.35 | 324 |
Literature-anchored findings (GeneRIF, showing 5)
- Multiprotein bridging factor-1 (MBF-1) is a cofactor for nuclear receptors that regulate lipid metabolism. (PMID:12040021)
- The EDF-1 minimal promoter was characterized. (PMID:16567061)
- According to this study multiprotein bridging factor 1 and Calmodulin do not interact in vitro as confirmed by NMR spectroscopy and CaM-agarose affinity chromatography. (PMID:21782027)
- EDF1 is required for VEGF-induced activation of the transcriptional activity of PPARgamma in HUVEC cells. (PMID:29933613)
- EDF1 coordinates cellular responses to ribosome collisions. (PMID:32744497)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | edf1 | ENSDARG00000009950 |
| mus_musculus | Edf1 | ENSMUSG00000015092 |
| rattus_norvegicus | ENSRNOG00000084601 | |
| drosophila_melanogaster | mbf1 | FBGN0262732 |
| caenorhabditis_elegans | WBGENE00003148 |
Protein
Protein identifiers
Endothelial differentiation-related factor 1 — O60869 (reviewed: O60869)
Alternative names: Multiprotein-bridging factor 1
All UniProt accessions (1): O60869
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional coactivator stimulating NR5A1 and ligand-dependent NR1H3/LXRA and PPARG transcriptional activities. Enhances the DNA-binding activity of ATF1, ATF2, CREB1 and NR5A1. Regulates nitric oxid synthase activity probably by sequestering calmodulin in the cytoplasm. May function in endothelial cells differentiation, hormone-induced cardiomyocytes hypertrophy and lipid metabolism.
Subunit / interactions. Interacts with TBP and the transcription factor IID (TFIID) complex, NR5A2, NR1H3 and PPARG. Interaction with TBP is regulated by phosphorylation. Binds NR5A1, ATF1, FOS and JUN via their conserved basic region. Binding to calmodulin is regulated by calcium and phosphorylation of the IQ motif.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Expressed in brain, liver, lung, kidney and heart (at protein level). Ubiquitously expressed. More abundant in heart, pancreas, liver, intestine and adipose tissues.
Post-translational modifications. Phosphorylated (by PKA and PKC).
Domain organisation. The IQ motif, which is involved in calmodulin binding, overlaps with the binding domain for nuclear receptors and transcription factors. Its phosphorylation probably allows a switch between the two activities of the protein.
Induction. Down-regulated by HIV-1 Tat or phorbol ester (TPA) treatment in endothelial cells (at mRNA and protein levels).
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O60869-1 | 1, Alpha | yes |
| O60869-2 | 2, Beta | |
| O60869-3 | 3 |
RefSeq proteins (5): NP_001268226, NP_001268227, NP_001268228, NP_003783, NP_694880 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001387 | Cro/C1-type_HTH | Domain |
| IPR010982 | Lambda_DNA-bd_dom_sf | Homologous_superfamily |
| IPR013729 | MBF1_N | Domain |
Pfam: PF01381, PF08523
UniProt features (33 total): mutagenesis site 9, helix 6, modified residue 3, region of interest 3, splice variant 2, turn 2, compositionally biased region 2, initiator methionine 1, chain 1, domain 1, DNA-binding region 1, strand 1, short sequence motif 1
Structure
Experimental structures (PDB)
9 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9RPV | ELECTRON MICROSCOPY | 2.35 |
| 9P73 | ELECTRON MICROSCOPY | 2.66 |
| 6ZVH | ELECTRON MICROSCOPY | 2.9 |
| 9P8H | ELECTRON MICROSCOPY | 2.98 |
| 9B0Q | ELECTRON MICROSCOPY | 3.2 |
| 9B0S | ELECTRON MICROSCOPY | 3.8 |
| 1X57 | SOLUTION NMR | |
| 9AZN | ||
| 9B0W |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O60869-F1 | 83.47 | 0.44 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (3): 2, 4, 25
Mutagenesis-validated functional residues (9):
| Position | Phenotype |
|---|---|
| 40 | loss of interaction with calm; when associated with d-58; d-91 and d-111. |
| 58 | loss of interaction with calm; when associated with d-40; d-91 and d-111. |
| 65 | no effect on calm-binding. no effect; when associated with d-74. |
| 74 | no effect on calm-binding. no effect; when associated with d-65. |
| 87 | no effect on calm-binding. |
| 87 | loss of interaction with calm and higher affinity for tbp. same effect; when associated with d-65 and d-74. |
| 91 | no effect on calm-binding. |
| 91 | partial loss of interaction with calm. complete loss of interaction; when associated with d-40; d-58 and d-111. |
| 111 | loss of interaction with calm; when associated with d-40; d-58 and d-91. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 91 (showing top):
GOBP_EPITHELIUM_DEVELOPMENT, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_10, GCANCTGNY_MYOD_Q6, CAGCTG_AP4_Q5, GOBP_POSITIVE_REGULATION_OF_BINDING, GOBP_REGULATION_OF_LIPID_METABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_ENDOTHELIUM_DEVELOPMENT, GOBP_LIPID_METABOLIC_PROCESS, SCHLINGEMANN_SKIN_CARCINOGENESIS_TPA_UP, OSMAN_BLADDER_CANCER_DN, KIM_WT1_TARGETS_DN, GOBP_REGULATION_OF_DNA_BINDING, MATSUDA_NATURAL_KILLER_DIFFERENTIATION
GO Biological Process (6): regulation of DNA-templated transcription (GO:0006355), regulation of lipid metabolic process (GO:0019216), positive regulation of DNA binding (GO:0043388), endothelial cell differentiation (GO:0045446), positive regulation of DNA-templated transcription (GO:0045893), cell differentiation (GO:0030154)
GO Molecular Function (6): TFIID-class transcription factor complex binding (GO:0001094), DNA binding (GO:0003677), transcription coactivator activity (GO:0003713), RNA binding (GO:0003723), calmodulin binding (GO:0005516), protein binding (GO:0005515)
GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), cytosol (GO:0005829)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| DNA-templated transcription | 2 |
| nucleic acid binding | 2 |
| nuclear lumen | 2 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| lipid metabolic process | 1 |
| regulation of primary metabolic process | 1 |
| DNA binding | 1 |
| positive regulation of binding | 1 |
| regulation of DNA binding | 1 |
| endothelium development | 1 |
| epithelial cell differentiation | 1 |
| regulation of DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| cellular developmental process | 1 |
| RNA polymerase II general transcription initiation factor binding | 1 |
| transcription coregulator activity | 1 |
| positive regulation of DNA-templated transcription | 1 |
| protein binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
2894 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| EDF1 | TBP | P20226 | 808 |
| EDF1 | NR5A2 | O00482 | 731 |
| EDF1 | ZNF598 | Q86UK7 | 662 |
| EDF1 | NR5A1 | Q13285 | 628 |
| EDF1 | GIGYF2 | Q6Y7W6 | 550 |
| EDF1 | CALML3 | P27482 | 528 |
| EDF1 | CALML6 | Q8TD86 | 528 |
| EDF1 | CALML4 | Q96GE6 | 528 |
| EDF1 | CALML5 | Q9NZT1 | 528 |
| EDF1 | RPS20 | P17075 | 481 |
| EDF1 | HBS1L | Q9Y450 | 464 |
| EDF1 | NFYB | P25208 | 419 |
| EDF1 | PRRC2C | Q9Y520 | 416 |
| EDF1 | ZC3H11A | O75152 | 412 |
| EDF1 | CLPB | Q9H078 | 403 |
IntAct
76 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| EDF1 | ESR1 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| EDF1 | NR1H3 | psi-mi:“MI:0915”(physical association) | 0.580 |
| EDF1 | PPARG | psi-mi:“MI:0915”(physical association) | 0.580 |
| PPARG | EDF1 | psi-mi:“MI:0915”(physical association) | 0.580 |
| MEOX2 | EDF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EDF1 | HTT | psi-mi:“MI:0915”(physical association) | 0.560 |
| CFTR | EDF1 | psi-mi:“MI:0915”(physical association) | 0.520 |
| NS | EDF1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| EDF1 | NS | psi-mi:“MI:0915”(physical association) | 0.510 |
| DDX21 | MED19 | psi-mi:“MI:2364”(proximity) | 0.480 |
| H3C1 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.410 |
| ZNF157 | EDF1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GTF3C1 | EDF1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| DDX52 | EDF1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FER1L5 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (110): EDF1 (Two-hybrid), EDF1 (Affinity Capture-RNA), EDF1 (Two-hybrid), DNAJB1 (Co-fractionation), EDF1 (Co-fractionation), EDF1 (Co-fractionation), EDF1 (Co-fractionation), HNRNPF (Co-fractionation), EDF1 (Proximity Label-MS), EDF1 (Proximity Label-MS), EDF1 (Affinity Capture-MS), EDF1 (Affinity Capture-MS), EDF1 (Affinity Capture-MS), EDF1 (Affinity Capture-RNA), EDF1 (Affinity Capture-MS)
ESM2 similar proteins: A4RHN3, A6SGN8, A7EWN6, G0S8F1, G1TDB3, O14467, O60869, O94659, O94700, P0CO30, P0CO31, P14327, P48588, P62851, P62852, P62853, P69736, Q2H0U6, Q2UGU3, Q3T0V7, Q4HYB8, Q4I5I4, Q4WX89, Q52BY4, Q53IP3, Q56JX5, Q5A940, Q5B8Y4, Q5ZMC0, Q6BXQ8, Q6CIP4, Q6FJN0, Q6GPQ6, Q6MFP4, Q6PBI5, Q6PBY3, Q6Q311, Q74ZK6, Q752P7, Q7S3C4
Diamond homologs: O14467, O60869, O94700, P0CO30, P0CO31, P14327, P69736, Q3T0V7, Q4WX89, Q52BY4, Q53IP3, Q5A940, Q5B8Y4, Q5ZMC0, Q6BXQ8, Q6CIP4, Q6FJN0, Q6GPQ6, Q6PBY3, Q752P7, Q871W6, Q8TG23, Q9JMG1, Q9LV58, Q9LXT3, Q9SJI8, O30257
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PRKCA | “down-regulates activity” | EDF1 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 70 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 |
|---|---|---|---|
| SUMOylation of intracellular receptors | 6 | 37.3× | 6e-06 |
| Nuclear Receptor transcription pathway | 6 | 22.3× | 8e-05 |
| SARS-CoV-1-host interactions | 5 | 16.3× | 3e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| hormone-mediated signaling pathway | 5 | 32.4× | 2e-04 |
| mRNA transcription by RNA polymerase II | 5 | 26.6× | 3e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
21 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 12 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 59136 | GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1 | Pathogenic |
SpliceAI
1237 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:136862996:TTTT:T | acceptor_gain | 1.0000 |
| 9:136862997:TTTCT:T | acceptor_loss | 1.0000 |
| 9:136862998:TT:T | acceptor_gain | 1.0000 |
| 9:136862999:TC:T | acceptor_loss | 1.0000 |
| 9:136863000:C:CC | acceptor_gain | 1.0000 |
| 9:136863000:CTAA:C | acceptor_loss | 1.0000 |
| 9:136863001:T:C | acceptor_loss | 1.0000 |
| 9:136863284:TCA:T | donor_loss | 1.0000 |
| 9:136863285:CACCG:C | donor_loss | 1.0000 |
| 9:136863286:A:C | donor_loss | 1.0000 |
| 9:136863287:C:A | donor_loss | 1.0000 |
| 9:136863309:AAGCC:A | donor_gain | 1.0000 |
| 9:136863456:C:CT | acceptor_gain | 1.0000 |
| 9:136863457:G:T | acceptor_gain | 1.0000 |
| 9:136863458:G:C | acceptor_gain | 1.0000 |
| 9:136863458:G:GC | acceptor_gain | 1.0000 |
| 9:136863460:G:C | acceptor_gain | 1.0000 |
| 9:136863460:G:GC | acceptor_gain | 1.0000 |
| 9:136863466:C:CT | acceptor_gain | 1.0000 |
| 9:136863467:A:T | acceptor_gain | 1.0000 |
| 9:136863818:A:AC | donor_gain | 1.0000 |
| 9:136863819:C:CC | donor_gain | 1.0000 |
| 9:136863819:CATTT:C | donor_gain | 1.0000 |
| 9:136863868:TAGC:T | acceptor_gain | 1.0000 |
| 9:136863872:C:CA | acceptor_loss | 1.0000 |
| 9:136863872:C:CC | acceptor_gain | 1.0000 |
| 9:136863873:T:A | acceptor_loss | 1.0000 |
| 9:136863880:T:TC | acceptor_gain | 1.0000 |
| 9:136866176:AGCAC:A | donor_loss | 1.0000 |
| 9:136866177:GCAC:G | donor_loss | 1.0000 |
AlphaMissense
959 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:136863292:G:T | A96D | 1.000 |
| 9:136862330:C:T | G134E | 0.999 |
| 9:136862336:A:T | L132H | 0.999 |
| 9:136862920:A:T | I124N | 0.999 |
| 9:136862974:A:T | I106N | 0.999 |
| 9:136863292:G:A | A96V | 0.999 |
| 9:136863293:C:G | A96P | 0.999 |
| 9:136863295:A:G | L95P | 0.999 |
| 9:136863337:A:T | I81N | 0.999 |
| 9:136863346:C:T | G78D | 0.999 |
| 9:136863397:A:G | L61P | 0.999 |
| 9:136862914:C:G | R126P | 0.998 |
| 9:136862917:T:A | E125V | 0.998 |
| 9:136862950:G:T | A114D | 0.998 |
| 9:136862961:C:A | E110D | 0.998 |
| 9:136862961:C:G | E110D | 0.998 |
| 9:136863293:C:T | A96T | 0.998 |
| 9:136863303:C:A | Q92H | 0.998 |
| 9:136863303:C:G | Q92H | 0.998 |
| 9:136863325:C:G | R85P | 0.998 |
| 9:136863391:C:G | R63P | 0.998 |
| 9:136863397:A:T | L61Q | 0.998 |
| 9:136863439:C:T | G47D | 0.998 |
| 9:136866241:C:A | W6C | 0.998 |
| 9:136866241:C:G | W6C | 0.998 |
| 9:136866243:A:G | W6R | 0.998 |
| 9:136866243:A:T | W6R | 0.998 |
| 9:136862330:C:A | G134V | 0.997 |
| 9:136862336:A:G | L132P | 0.997 |
| 9:136862918:C:T | E125K | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000069803 (9:136867125 C>T), RS1000120107 (9:136866907 A>G), RS1000576165 (9:136865973 A>C,G), RS1000977063 (9:136862499 A>C,G), RS1001673430 (9:136865377 C>G), RS1001740150 (9:136865552 A>G,T), RS1001944408 (9:136864279 T>A), RS1002583024 (9:136868095 ACT>A), RS1003412265 (9:136864451 C>T), RS1003465014 (9:136864251 G>A), RS1004661930 (9:136864265 A>G), RS1005088729 (9:136867820 C>T), RS1005288329 (9:136866822 C>G), RS1005820532 (9:136863570 G>A,T), RS1006290390 (9:136863191 G>C,T)
Disease associations
OMIM: gene MIM:605107 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (2): CHEMBL4295670 (SINGLE PROTEIN), CHEMBL4742264 (PROTEIN-PROTEIN INTERACTION)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.84 | Kd | 1433 | nM | CHEMBL5653589 |
| 5.84 | ED50 | 1433 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 4 total; 1 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 |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148283: Binding affinity to human EDF1 incubated for 45 mins by Kinobead based pull down assay | kd | 1.4333 | uM |
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, affects cotreatment, increases methylation, decreases expression | 4 |
| sodium arsenite | increases expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| deoxynivalenol | increases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects localization, increases expression, affects cotreatment | 1 |
| afimoxifene | affects response to substance | 1 |
| cobaltous chloride | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Arsenic | affects methylation | 1 |
| Diazinon | increases methylation | 1 |
| Doxorubicin | increases expression | 1 |
| Furaldehyde | affects localization, decreases expression, affects cotreatment | 1 |
| Ivermectin | decreases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Ribonucleotides | affects binding | 1 |
| Selenium | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Sodium Chloride | affects cotreatment, affects localization, decreases expression, increases expression | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Vitamin E | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | affects cotreatment, decreases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
| beta-Naphthoflavone | affects cotreatment, decreases expression | 1 |
ChEMBL screening assays
3 unique, capped per target: 3 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4118580 | Binding | Binding affinity to EDF1 in human NCI-H23 cells at 1 uM by mass spectrometry based pull down assay | Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem |
Cellosaurus cell lines
4 cell lines: 3 embryonic stem cell, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A1D9 | SEES3-1V human EDF1, clone1 | Embryonic stem cell | Male |
| CVCL_A1E0 | SEES3-1V human EDF1, clone2 | Embryonic stem cell | Male |
| CVCL_A1E1 | SEES3-1V human EDF1, clone3 | Embryonic stem cell | Male |
| CVCL_F1PF | HyCyte HEK293T KO-hEDF1 | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.