ECI1
gene geneOn this page
Summary
ECI1 (enoyl-CoA delta isomerase 1, HGNC:2703) is a protein-coding gene on chromosome 16p13.3, encoding Enoyl-CoA delta isomerase 1, mitochondrial (P42126). Key enzyme of fatty acid beta-oxidation.
This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described.
Source: NCBI Gene 1632 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 98 total
- Druggable target: yes
- MANE Select transcript:
NM_001919
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2703 |
| Approved symbol | ECI1 |
| Name | enoyl-CoA delta isomerase 1 |
| Location | 16p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000167969 |
| Ensembl biotype | protein_coding |
| OMIM | 600305 |
| Entrez | 1632 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 10 protein_coding, 3 retained_intron
ENST00000301729, ENST00000561688, ENST00000562238, ENST00000563029, ENST00000563447, ENST00000566379, ENST00000570258, ENST00000857514, ENST00000857515, ENST00000857516, ENST00000957379, ENST00000957380, ENST00000957381
RefSeq mRNA: 2 — MANE Select: NM_001919
NM_001178029, NM_001919
CCDS: CCDS10464, CCDS58410
Canonical transcript exons
ENST00000301729 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001118810 | 2243046 | 2243224 |
| ENSE00001118812 | 2239402 | 2240145 |
| ENSE00001197484 | 2251515 | 2251587 |
| ENSE00003473627 | 2251316 | 2251429 |
| ENSE00003482375 | 2243318 | 2243439 |
| ENSE00003585563 | 2246859 | 2246986 |
| ENSE00003588462 | 2244406 | 2244552 |
Expression profiles
Bgee: expression breadth ubiquitous, 280 present calls, max score 98.67.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 54.8052 / max 539.4646, expressed in 1818 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 155916 | 54.8052 | 1818 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| apex of heart | UBERON:0002098 | 98.67 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 97.93 | gold quality |
| right lobe of liver | UBERON:0001114 | 97.82 | gold quality |
| gastrocnemius | UBERON:0001388 | 97.64 | gold quality |
| right atrium auricular region | UBERON:0006631 | 97.32 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.26 | gold quality |
| heart left ventricle | UBERON:0002084 | 97.25 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 97.06 | gold quality |
| cardiac ventricle | UBERON:0002082 | 97.02 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.00 | gold quality |
| muscle of leg | UBERON:0001383 | 96.84 | gold quality |
| cardiac atrium | UBERON:0002081 | 96.48 | gold quality |
| thyroid gland | UBERON:0002046 | 96.18 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.10 | gold quality |
| muscle organ | UBERON:0001630 | 96.01 | gold quality |
| transverse colon | UBERON:0001157 | 95.95 | gold quality |
| heart | UBERON:0000948 | 95.90 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 95.48 | gold quality |
| body of stomach | UBERON:0001161 | 95.47 | gold quality |
| lower esophagus | UBERON:0013473 | 95.47 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 95.26 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 95.26 | gold quality |
| triceps brachii | UBERON:0001509 | 95.12 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 95.12 | gold quality |
| liver | UBERON:0002107 | 95.09 | gold quality |
| right uterine tube | UBERON:0001302 | 94.89 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 94.74 | gold quality |
| minor salivary gland | UBERON:0001830 | 94.65 | gold quality |
| mucosa of stomach | UBERON:0001199 | 94.63 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 94.60 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10287 | yes | 46.72 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 3)
- determination of structure and mode of binding for fatty acyl group (PMID:15351645)
- Hepatitis C virus growth and RNA replication in hepatoma cell lines stably expressing coenzyme A delta isomerase (DCI)-targeting short hairpin RNA (shRNA) were abrogated, indicating that DCI is required for productive infection. (PMID:21917952)
- Fatty acid oxidation enzyme Delta3, Delta2-enoyl-CoA isomerase 1 (ECI1) drives aggressive tumor phenotype and predicts poor clinical outcome in prostate cancer patients. (PMID:35411033)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | eci1 | ENSDARG00000018002 |
| mus_musculus | Eci1 | ENSMUSG00000024132 |
| rattus_norvegicus | Eci1 | ENSRNOG00000008843 |
| drosophila_melanogaster | CG4598 | FBGN0032160 |
| drosophila_melanogaster | CG4594 | FBGN0032161 |
| drosophila_melanogaster | CG4592 | FBGN0032162 |
Paralogs (13): ECHDC1 (ENSG00000093144), ECH1 (ENSG00000104823), ECHDC2 (ENSG00000121310), ECHS1 (ENSG00000127884), CDY2B (ENSG00000129873), ECHDC3 (ENSG00000134463), AUH (ENSG00000148090), CDYL (ENSG00000153046), CDYL2 (ENSG00000166446), CDY1 (ENSG00000172288), CDY1B (ENSG00000172352), CDY2A (ENSG00000182415), HIBCH (ENSG00000198130)
Protein
Protein identifiers
Enoyl-CoA delta isomerase 1, mitochondrial — P42126 (reviewed: P42126)
Alternative names: 3,2-trans-enoyl-CoA isomerase, Delta(3),Delta(2)-enoyl-CoA isomerase, Dodecenoyl-CoA isomerase
All UniProt accessions (4): P42126, A0A384NKJ3, H3BS70, Q96DC0
UniProt curated annotations — full annotation on UniProt →
Function. Key enzyme of fatty acid beta-oxidation. Able to isomerize both 3-cis (3Z) and 3-trans (3E) double bonds into the 2-trans (2E) form in a range of enoyl-CoA species, with a preference for (3Z)-enoyl-CoAs over (3E)-enoyl-CoAs. The catalytic efficiency of this enzyme is not affected by the fatty acyl chain length.
Subunit / interactions. Homotrimer.
Subcellular location. Mitochondrion matrix.
Tissue specificity. Expressed in liver (at protein level).
Pathway. Lipid metabolism; fatty acid beta-oxidation.
Similarity. Belongs to the enoyl-CoA hydratase/isomerase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P42126-1 | 1 | yes |
| P42126-2 | 2 |
RefSeq proteins (2): NP_001171500, NP_001910* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001753 | Enoyl-CoA_hydra/iso | Domain |
| IPR018376 | Enoyl-CoA_hyd/isom_CS | Conserved_site |
| IPR029045 | ClpP/crotonase-like_dom_sf | Homologous_superfamily |
Pfam: PF00378
Enzyme classification (BRENDA):
- EC 5.3.3.8 — DELTA3-DELTA2-enoyl-CoA isomerase (BRENDA: 14 organisms, 65 substrates, 8 inhibitors, 70 Km, 69 kcat entries)
Substrate kinetics (BRENDA)
19 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| 3-TRANS-HEXENOYL-COA | 0.03–1.6 | 15 |
| TRANS-3-HEXENOYL-COA | 0.03–0.12 | 7 |
| 3-CIS-HEXENOYL-COA | 0.031–1.2 | 6 |
| 3-CIS-TETRADECENOYL-COA | 0.006–0.089 | 5 |
| 2-TRANS,5-CIS-OCTADIENOYL-COA | 0.0044–0.17 | 3 |
| 2-TRANS,5-CIS-TETRADECADIENOYL-COA | 0.0096–0.029 | 3 |
| 3-CIS-OCTENOYL-COA | 0.032–0.15 | 3 |
| 3-DECYNOYL-N-ACETYLCYSTEAMINE | 0.24–0.81 | 3 |
| 3-DODECYNOYL-N-ACETYLCYSTEAMINE | 0.28–0.97 | 3 |
| 3-HEXYNOYL-N-ACETYLCYSTEAMINE | 2.1–7.2 | 3 |
| 3-OCTYNOYL-N-ACETYLCYSTEAMINE | 0.68–1.6 | 3 |
| 3-TRANS-OCTENOYL-COA | 0.028–0.19 | 3 |
| 3-TRANS-TETRADECENOYL-COA | 0.029–0.048 | 3 |
| TRANS-2-HEXENOYL-COA | 0.0006–0.31 | 3 |
| 3-HEXENOYL-COA | 0.04–0.15 | 2 |
Catalyzed reactions (Rhea), 7 shown:
- (3Z)-dodecenoyl-CoA = (2E)-dodecenoyl-CoA (RHEA:23716)
- (2E)-tetradecenoyl-CoA = (3Z)-tetradecenoyl-CoA (RHEA:29847)
- a (3E)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA (RHEA:45228)
- (3Z)-hexenoyl-CoA = (2E)-hexenoyl-CoA (RHEA:45748)
- a (3Z)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA (RHEA:45900)
- (3Z)-octenoyl-CoA = (2E)-octenoyl-CoA (RHEA:46044)
- (3Z)-decenoyl-CoA = (2E)-decenoyl-CoA (RHEA:77195)
UniProt features (54 total): sequence conflict 15, helix 14, strand 8, modified residue 7, binding site 3, turn 2, transit peptide 1, chain 1, splice variant 1, mutagenesis site 1, site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1SG4 | X-RAY DIFFRACTION | 1.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P42126-F1 | 90.43 | 0.86 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 178 (important for catalytic activity)
Ligand- & substrate-binding residues (3): 106–110; 153; 177
Post-translational modifications (7): 283, 283, 288, 61, 61, 84, 89
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 178 | loss of activity. |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-77288 | mitochondrial fatty acid beta-oxidation of unsaturated fatty acids |
| R-HSA-9837999 | Mitochondrial protein degradation |
MSigDB gene sets: 215 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, GOBP_LIPID_MODIFICATION, GOBP_FATTY_ACID_CATABOLIC_PROCESS, MODULE_151, GOLDRATH_IMMUNE_MEMORY, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, HUMMERICH_SKIN_CANCER_PROGRESSION_DN, YGACNNYACAR_UNKNOWN, MCBRYAN_PUBERTAL_BREAST_4_5WK_DN, HOSHIDA_LIVER_CANCER_SUBCLASS_S3, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS
GO Biological Process (3): fatty acid beta-oxidation (GO:0006635), lipid metabolic process (GO:0006629), fatty acid metabolic process (GO:0006631)
GO Molecular Function (4): delta(3)-delta(2)-enoyl-CoA isomerase activity (GO:0004165), intramolecular oxidoreductase activity, transposing C=C bonds (GO:0016863), catalytic activity (GO:0003824), isomerase activity (GO:0016853)
GO Cellular Component (2): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Mitochondrial Fatty Acid Beta-Oxidation | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| fatty acid catabolic process | 1 |
| fatty acid ligase activity | 1 |
| fatty acid oxidation | 1 |
| primary metabolic process | 1 |
| lipid metabolic process | 1 |
| monocarboxylic acid metabolic process | 1 |
| intramolecular oxidoreductase activity, transposing C=C bonds | 1 |
| intramolecular oxidoreductase activity | 1 |
| molecular_function | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| mitochondrion | 1 |
| intracellular organelle lumen | 1 |
Protein interactions and networks
STRING
2524 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ECI1 | ECI2 | O75521 | 985 |
| ECI1 | DECR1 | Q16698 | 621 |
| ECI1 | ACAA2 | P42765 | 599 |
| ECI1 | ACADS | P16219 | 556 |
| ECI1 | HADHB | P55084 | 545 |
| ECI1 | ETFDH | Q16134 | 544 |
| ECI1 | HSD17B4 | P51659 | 543 |
| ECI1 | ACADL | P28330 | 539 |
| ECI1 | ACADM | P11310 | 534 |
| ECI1 | CPT2 | P23786 | 516 |
| ECI1 | ACADVL | P49748 | 507 |
| ECI1 | DECR2 | Q9NUI1 | 496 |
| ECI1 | EHHADH | Q08426 | 480 |
| ECI1 | ACOX3 | O15254 | 463 |
| ECI1 | ACADSB | P45954 | 456 |
IntAct
14 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LMTK3 | GPI | psi-mi:“MI:0914”(association) | 0.420 |
| ECI1 | POT1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MAPKAP1 | ECI1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FASTKD3 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| RAB9A | LANCL1 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRK2 | psi-mi:“MI:0914”(association) | 0.350 | |
| FBXL19 | S100A9 | psi-mi:“MI:0914”(association) | 0.350 |
| DENND11 | psi-mi:“MI:0914”(association) | 0.350 | |
| VCP | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL58 | psi-mi:“MI:0914”(association) | 0.350 | |
| HSPD1 | VWA8 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (77): ECI1 (Co-fractionation), ECI1 (Co-fractionation), ECI1 (Co-fractionation), HIBCH (Co-fractionation), ECI1 (Affinity Capture-RNA), ECI1 (Affinity Capture-MS), ECI1 (Proximity Label-MS), ECI1 (Affinity Capture-MS), ECI1 (Proximity Label-MS), ECI1 (Co-fractionation), HMGCS1 (Co-fractionation), CHID1 (Co-fractionation), ACP6 (Co-fractionation), NFU1 (Co-fractionation), ECI1 (Co-fractionation)
ESM2 similar proteins: A6QP05, A9JS71, F1NB38, F1R6N4, O35459, P11172, P13439, P17256, P23965, P31754, P42125, P42126, Q03426, Q0V8R7, Q13011, Q28C91, Q28DB5, Q2HJD5, Q3MIE0, Q3URE1, Q4G176, Q58DN7, Q5E9H9, Q5E9T8, Q5HZQ8, Q5R4W0, Q5R514, Q5R824, Q5REX5, Q5RFG0, Q62651, Q62904, Q64323, Q6AYG5, Q6GLK6, Q6GM82, Q6NYL5, Q6PE15, Q7T0X7, Q8BGT5
Diamond homologs: A0KV76, A1ADI8, A1S7L6, A3CYJ4, A3QFP3, A4WCW6, A4XSM8, A5WH99, A6TC19, A7N1D2, A7ZPF8, A8A2L0, A8ADP2, A8G8D1, A9N453, B0KH74, B1IXA5, B1LME7, B1X9L4, B2TWV4, B4SZR0, B4TCA8, B4TQC2, B5BBA1, B5EZR9, B5FPN1, B5R3R9, B5RCL3, B5XVW2, B5YXY4, B6I6Q4, B7LBJ5, B7LLD0, B7M6M2, B7MGV7, B7MY16, B7N5V2, B7NP24, B7UFZ8, B7VGL4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
98 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 73 |
| Likely benign | 5 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1207 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:2240142:TGGT:T | acceptor_gain | 1.0000 |
| 16:2240145:TC:T | acceptor_loss | 1.0000 |
| 16:2240146:C:CC | acceptor_gain | 1.0000 |
| 16:2240147:T:C | acceptor_loss | 1.0000 |
| 16:2243220:TCAAC:T | acceptor_gain | 1.0000 |
| 16:2243221:CAAC:C | acceptor_gain | 1.0000 |
| 16:2243221:CAACC:C | acceptor_gain | 1.0000 |
| 16:2243222:AAC:A | acceptor_gain | 1.0000 |
| 16:2243223:AC:A | acceptor_gain | 1.0000 |
| 16:2243223:ACC:A | acceptor_loss | 1.0000 |
| 16:2243224:CC:C | acceptor_gain | 1.0000 |
| 16:2243224:CCT:C | acceptor_loss | 1.0000 |
| 16:2243225:C:CC | acceptor_gain | 1.0000 |
| 16:2243225:CTGGA:C | acceptor_loss | 1.0000 |
| 16:2243311:GCCTT:G | donor_loss | 1.0000 |
| 16:2243312:CCTTA:C | donor_loss | 1.0000 |
| 16:2243313:CTTA:C | donor_loss | 1.0000 |
| 16:2243314:TTA:T | donor_loss | 1.0000 |
| 16:2243315:TA:T | donor_loss | 1.0000 |
| 16:2243436:CTCC:C | acceptor_gain | 1.0000 |
| 16:2243437:TCC:T | acceptor_gain | 1.0000 |
| 16:2243438:CC:C | acceptor_gain | 1.0000 |
| 16:2243438:CCC:C | acceptor_gain | 1.0000 |
| 16:2243439:CC:C | acceptor_gain | 1.0000 |
| 16:2243439:CCTG:C | acceptor_loss | 1.0000 |
| 16:2243440:C:CC | acceptor_gain | 1.0000 |
| 16:2243440:CTGCA:C | acceptor_loss | 1.0000 |
| 16:2243441:T:G | acceptor_loss | 1.0000 |
| 16:2244404:A:AC | donor_gain | 1.0000 |
| 16:2244405:C:CC | donor_gain | 1.0000 |
AlphaMissense
1928 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:2240123:C:A | K255N | 0.995 |
| 16:2240123:C:G | K255N | 0.995 |
| 16:2240136:C:G | R251P | 0.994 |
| 16:2243319:A:G | W188R | 0.993 |
| 16:2243319:A:T | W188R | 0.993 |
| 16:2240112:C:G | R259P | 0.992 |
| 16:2243396:T:A | D162V | 0.991 |
| 16:2243431:G:C | C150W | 0.990 |
| 16:2246949:G:C | N68K | 0.990 |
| 16:2246949:G:T | N68K | 0.990 |
| 16:2243390:C:G | R164P | 0.989 |
| 16:2243438:C:T | G148E | 0.989 |
| 16:2244535:G:C | F104L | 0.989 |
| 16:2244535:G:T | F104L | 0.989 |
| 16:2244537:A:G | F104L | 0.989 |
| 16:2243357:C:T | G175E | 0.988 |
| 16:2243117:T:A | D224V | 0.987 |
| 16:2243163:C:A | G209W | 0.985 |
| 16:2243396:T:G | D162A | 0.985 |
| 16:2244453:A:G | W132R | 0.985 |
| 16:2244453:A:T | W132R | 0.985 |
| 16:2243398:A:C | C161W | 0.984 |
| 16:2243397:C:A | D162Y | 0.982 |
| 16:2244419:A:T | V143D | 0.982 |
| 16:2243391:G:T | R164S | 0.981 |
| 16:2243433:A:G | C150R | 0.981 |
| 16:2243120:A:T | V223E | 0.980 |
| 16:2243418:A:G | C155R | 0.979 |
| 16:2243438:C:A | G148V | 0.979 |
| 16:2246875:C:T | G93D | 0.978 |
dbSNP variants (sampled 300 via entrez): RS1000088254 (16:2250045 T>G), RS1000303889 (16:2241410 C>G), RS1000326445 (16:2252061 TG>T), RS1000359220 (16:2250555 G>A,C,T), RS1000411169 (16:2245406 G>A), RS1000710985 (16:2250328 T>C), RS1000753426 (16:2239156 C>T), RS1000997342 (16:2243347 C>A,G), RS1001179360 (16:2242147 C>A,G,T), RS1001195667 (16:2249536 G>C,T), RS1001233060 (16:2244925 T>C), RS1001356470 (16:2240761 A>G), RS1001358369 (16:2242791 T>A,C), RS1001482484 (16:2250903 C>T), RS1001661277 (16:2245077 G>A,C)
Disease associations
OMIM: gene MIM:600305 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007490_26 | Anthropometric traits (multi-trait analysis) | 1.000000e-11 |
| GCST90011900_122 | Serum alkaline phosphatase levels | 2.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004324 | body weights and measures |
| EFO:0004533 | alkaline phosphatase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066903 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 4 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.30 | Kd | 5015 | nM | CHEMBL3752910 |
| 5.30 | ED50 | 5015 | nM | CHEMBL3752910 |
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-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148281: Binding affinity to human ECI1 incubated for 45 mins by Kinobead based pull down assay | kd | 5.0151 | uM |
CTD chemical–gene interactions
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, increases methylation | 4 |
| sodium arsenite | decreases expression, increases abundance, increases expression | 2 |
| Arsenic | affects methylation, decreases expression, increases abundance | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| Tretinoin | increases expression | 2 |
| aristolochic acid I | decreases expression, increases expression | 1 |
| bisphenol F | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| methylselenic acid | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| zinc chromate | increases abundance, decreases expression | 1 |
| ochratoxin A | decreases expression | 1 |
| tamibarotene | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| ICG 001 | increases expression | 1 |
| bisphenol B | increases expression | 1 |
| pyrachlostrobin | decreases expression | 1 |
| jinfukang | increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| picoxystrobin | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic Trioxide | decreases response to substance | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Antimycin A | decreases expression | 1 |
| Atrazine | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651323 | Binding | Binding affinity to human ECI1 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
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.