ECH1

Summary

ECH1 (enoyl-CoA hydratase 1, HGNC:3149) is a protein-coding gene on chromosome 19q13.2, encoding Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial (Q13011). Isomerization of 3-trans,5-cis-dienoyl-CoA (3E,5Z-dienoyl-CoA) to 2-trans,4-trans-dienoyl-CoA (2E,4E-dienoyl-CoA), a crucial step in the beta-oxidation of unsaturated fatty acids with double bonds at odd position.

This gene encodes a member of the hydratase/isomerase superfamily. The gene product shows high sequence similarity to enoyl-coenzyme A (CoA) hydratases of several species, particularly within a conserved domain characteristic of these proteins. The encoded protein, which contains a C-terminal peroxisomal targeting sequence, localizes to the peroxisome. The rat ortholog, which localizes to the matrix of both the peroxisome and mitochondria, can isomerize 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, indicating that it is a delta3,5-delta2,4-dienoyl-CoA isomerase. This enzyme functions in the auxiliary step of the fatty acid beta-oxidation pathway. Expression of the rat gene is induced by peroxisome proliferators.

Source: NCBI Gene 1891 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 75 total
• Druggable target: yes
• MANE Select transcript: NM_001398

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3149
Approved symbol	ECH1
Name	enoyl-CoA hydratase 1
Location	19q13.2
Locus type	gene with protein product
Status	Approved
Aliases	HPXEL
Ensembl gene	ENSG00000104823
Ensembl biotype	protein_coding
OMIM	600696
Entrez	1891

Gene structure

Transcript identifiers

Ensembl transcripts: 30 — 20 protein_coding, 8 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000221418, ENST00000594164, ENST00000594391, ENST00000595470, ENST00000595567, ENST00000596118, ENST00000597089, ENST00000597205, ENST00000597805, ENST00000598316, ENST00000598707, ENST00000600178, ENST00000601060, ENST00000601094, ENST00000601333, ENST00000601778, ENST00000602115, ENST00000908554, ENST00000908555, ENST00000908556, ENST00000908557, ENST00000908558, ENST00000908559, ENST00000908560, ENST00000915487, ENST00000915488, ENST00000915489, ENST00000948864, ENST00000948865, ENST00000948866

RefSeq mRNA: 1 — MANE Select: NM_001398 NM_001398

CCDS: CCDS33014

Canonical transcript exons

ENST00000221418 — 10 exons

Exon	Start	End
ENSE00000704475	38816284	38816355
ENSE00003137194	38831721	38831794
ENSE00003474781	38815422	38815717
ENSE00003609784	38817316	38817364
ENSE00003631262	38817451	38817575
ENSE00003656646	38816453	38816523
ENSE00003673499	38817065	38817129
ENSE00003682183	38831309	38831516
ENSE00003786149	38815857	38816007
ENSE00003791479	38831078	38831166

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 99.63.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 100.1033 / max 1031.4179, expressed in 1820 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
180808	97.3212	1819
180809	2.7415	1472
180807	0.0407	13

Top tissues by expression

134 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	99.63	gold quality
heart left ventricle	UBERON:0002084	99.52	gold quality
gastrocnemius	UBERON:0001388	99.38	gold quality
right adrenal gland	UBERON:0001233	99.35	gold quality
left adrenal gland	UBERON:0001234	99.32	gold quality
left adrenal gland cortex	UBERON:0035825	99.31	gold quality
right adrenal gland cortex	UBERON:0035827	99.31	gold quality
right atrium auricular region	UBERON:0006631	99.27	gold quality
right lobe of liver	UBERON:0001114	99.25	gold quality
mucosa of transverse colon	UBERON:0004991	99.24	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.21	gold quality
heart	UBERON:0000948	99.06	gold quality
adult mammalian kidney	UBERON:0000082	99.03	gold quality
muscle of leg	UBERON:0001383	99.03	gold quality
adrenal gland	UBERON:0002369	99.02	gold quality
skeletal muscle tissue	UBERON:0001134	99.01	gold quality
transverse colon	UBERON:0001157	99.01	gold quality
liver	UBERON:0002107	98.94	gold quality
fundus of stomach	UBERON:0001160	98.90	gold quality
muscle tissue	UBERON:0002385	98.86	gold quality
muscle layer of sigmoid colon	UBERON:0035805	98.83	gold quality
rectum	UBERON:0001052	98.82	gold quality
spleen	UBERON:0002106	98.78	gold quality
placenta	UBERON:0001987	98.72	gold quality
duodenum	UBERON:0002114	98.72	gold quality
colon	UBERON:0001155	98.70	gold quality
mucosa of stomach	UBERON:0001199	98.70	gold quality
omental fat pad	UBERON:0010414	98.70	gold quality
adipose tissue	UBERON:0001013	98.68	gold quality
body of stomach	UBERON:0001161	98.67	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-70580	no	349.41
E-MTAB-7249	no	200.27
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

16 targeting ECH1, 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-548AT-5P	99.96	70.83	2666
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-7114-5P	98.51	67.87	1349
HSA-MIR-4664-5P	98.17	65.07	1020
HSA-MIR-6819-5P	97.96	66.59	1071
HSA-MIR-204-3P	97.80	66.84	1656
HSA-MIR-6737-5P	97.75	66.54	1044
HSA-MIR-4646-5P	97.70	66.84	1692
HSA-MIR-6812-5P	97.56	65.39	1059
HSA-MIR-342-5P	97.25	64.10	817
HSA-MIR-6742-5P	96.32	64.01	869
HSA-MIR-6747-5P	96.17	64.99	743
HSA-MIR-6796-5P	95.37	66.08	1120

Literature-anchored findings (GeneRIF, showing 3)

• Polymorphism of delta3,5-delta2,4-dienoyl-coenzyme A isomerase (the ECH1 gene product protein) in human striated muscle tissue (PMID:16615866)
• Enoyl coenzyme A hydratase 1 alleviates nonalcoholic steatohepatitis in mice by suppressing hepatic ferroptosis. (PMID:33813878)
• Possible roles for the ECH1 protein product in peroxisomal beta-oxidation are discussed. (PMID:7558027)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ech1	ENSDARG00000012915
mus_musculus	Ech1	ENSMUSG00000053898
rattus_norvegicus	Ech1	ENSRNOG00000020308
drosophila_melanogaster	CG9577	FBGN0031092
caenorhabditis_elegans		WBGENE00019022

Paralogs (13): ECHDC1 (ENSG00000093144), ECHDC2 (ENSG00000121310), ECHS1 (ENSG00000127884), CDY2B (ENSG00000129873), ECHDC3 (ENSG00000134463), AUH (ENSG00000148090), CDYL (ENSG00000153046), CDYL2 (ENSG00000166446), ECI1 (ENSG00000167969), CDY1 (ENSG00000172288), CDY1B (ENSG00000172352), CDY2A (ENSG00000182415), HIBCH (ENSG00000198130)

Protein

Protein identifiers

Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial — Q13011 (reviewed: Q13011)

All UniProt accessions (9): A0A384MR44, Q13011, M0QXS7, M0QZF6, M0QZW4, M0QZX8, M0R1A2, M0R248, M0R280

UniProt curated annotations — full annotation on UniProt →

Function. Isomerization of 3-trans,5-cis-dienoyl-CoA (3E,5Z-dienoyl-CoA) to 2-trans,4-trans-dienoyl-CoA (2E,4E-dienoyl-CoA), a crucial step in the beta-oxidation of unsaturated fatty acids with double bonds at odd position.

Subunit / interactions. Homohexamer.

Subcellular location. Mitochondrion. Peroxisome.

Pathway. Lipid metabolism; fatty acid beta-oxidation.

Similarity. Belongs to the enoyl-CoA hydratase/isomerase family.

RefSeq proteins (1): NP_001389* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001753	Enoyl-CoA_hydra/iso	Domain
IPR014748	Enoyl-CoA_hydra_C	Homologous_superfamily
IPR018376	Enoyl-CoA_hyd/isom_CS	Conserved_site
IPR029045	ClpP/crotonase-like_dom_sf	Homologous_superfamily
IPR045002	Ech1-like	Family

Pfam: PF00378

Catalyzed reactions (Rhea), 3 shown:

• (3E,5Z,8Z,11Z,14Z)-eicosapentaenoyl-CoA = (2E,4E,8Z,11Z,14Z)-eicosapentaenoyl-CoA (RHEA:45224)
• a (3E,5Z)-dienoyl-CoA = a (2E,4E)-(5,6-saturated)-dienoyl-CoA (RHEA:45240)
• (3E,5Z)-octadienoyl-CoA = (2E,4E)-octadienoyl-CoA (RHEA:45244)

UniProt features (45 total): helix 13, strand 12, sequence conflict 7, modified residue 3, sequence variant 2, binding site 2, site 2, transit peptide 1, chain 1, short sequence motif 1, turn 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
2VRE	X-RAY DIFFRACTION	1.95
8SK6	ELECTRON MICROSCOPY	2.96

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13011-F1	88.61	0.81

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 (2): 197 (important for catalytic activity); 205 (important for catalytic activity)

Ligand- & substrate-binding residues (2): 116–120; 174

Post-translational modifications (3): 231, 268, 327

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-9033241	Peroxisomal protein import
R-HSA-9837999	Mitochondrial protein degradation

MSigDB gene sets: 239 (showing top): GOBP_LIPID_MODIFICATION, GOBP_FATTY_ACID_CATABOLIC_PROCESS, YAGI_AML_WITH_INV_16_TRANSLOCATION, PAL_PRMT5_TARGETS_UP, MODULE_151, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, YY1_Q6, HUMMERICH_SKIN_CANCER_PROGRESSION_DN, GOLDRATH_ANTIGEN_RESPONSE, MCBRYAN_PUBERTAL_BREAST_4_5WK_DN, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, GOTZMANN_EPITHELIAL_TO_MESENCHYMAL_TRANSITION_DN, CCCNNNNNNAAGWT_UNKNOWN

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(3,5)-delta(2,4)-dienoyl-CoA isomerase activity (GO:0051750), catalytic activity (GO:0003824), protein binding (GO:0005515), isomerase activity (GO:0016853)

GO Cellular Component (8): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), peroxisome (GO:0005777), peroxisomal matrix (GO:0005782), cytosol (GO:0005829), membrane (GO:0016020), extracellular exosome (GO:0070062), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Protein localization	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cytoplasm	2
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
molecular_function	1
binding	1
catalytic activity	1
intracellular membrane-bounded organelle	1
mitochondrion	1
intracellular organelle lumen	1
microbody	1
peroxisome	1
microbody lumen	1
extracellular vesicle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1508 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ECH1	HSD17B4	P51659	868
ECH1	HADH	Q16836	833
ECH1	ACAA2	P42765	611
ECH1	RYR1	P21817	588
ECH1	ACOX1	Q15067	571
ECH1	ACOT8	O14734	556
ECH1	CPT2	P23786	530
ECH1	CPT1A	P50416	529
ECH1	HADHB	P55084	519
ECH1	ETFDH	Q16134	512
ECH1	FABP3	P05413	509
ECH1	ACADVL	P49748	501
ECH1	PEX5	P50542	500
ECH1	ANGPTL4	Q9BY76	496
ECH1	DECR1	Q16698	493
ECH1	ACADL	P28330	493

IntAct

213 interactions, top by confidence:

A	B	Type	Score
CEP290	CCP110	psi-mi:“MI:2364”(proximity)	0.890
MED20	MED19	psi-mi:“MI:0914”(association)	0.840
NDUFS3	NDUFS8	psi-mi:“MI:0914”(association)	0.730
PRELID3B	TRIAP1	psi-mi:“MI:0914”(association)	0.710
TRAF1	ECH1	psi-mi:“MI:0915”(physical association)	0.670
ECH1	TRAF1	psi-mi:“MI:0915”(physical association)	0.670
SDHAF3	NDUFAB1	psi-mi:“MI:0914”(association)	0.640
LYRM4	NDUFAB1	psi-mi:“MI:0914”(association)	0.640
ECI2	ECH1	psi-mi:“MI:0914”(association)	0.620
ECH1	ECI2	psi-mi:“MI:0914”(association)	0.620
ECI2	ECH1	psi-mi:“MI:0915”(physical association)	0.620
FAM9B	ECH1	psi-mi:“MI:0915”(physical association)	0.560
ECH1	FAM9B	psi-mi:“MI:0915”(physical association)	0.560
ECH1	EEF1G	psi-mi:“MI:0915”(physical association)	0.550
NEURL4	APBB1	psi-mi:“MI:0914”(association)	0.530
ECH1	ECI2	psi-mi:“MI:0914”(association)	0.530
APOOL	MTX2	psi-mi:“MI:0914”(association)	0.530
MAPK6	ECI2	psi-mi:“MI:0914”(association)	0.530
STAT3	ECH1	psi-mi:“MI:0915”(physical association)	0.510
ECH1	STAT3	psi-mi:“MI:0915”(physical association)	0.510
ECH1	HTT	psi-mi:“MI:0915”(physical association)	0.510
HTT	ECH1	psi-mi:“MI:0915”(physical association)	0.510

BioGRID (292): ECH1 (Affinity Capture-MS), TRAF1 (Two-hybrid), FAM9B (Two-hybrid), MCCC2 (Affinity Capture-MS), ECI2 (Affinity Capture-MS), TRAF3 (Affinity Capture-MS), MCCC1 (Affinity Capture-MS), IQGAP1 (Affinity Capture-MS), EIF2B3 (Affinity Capture-MS), FHL2 (Affinity Capture-MS), ZADH2 (Affinity Capture-MS), ECH1 (Co-fractionation), ECH1 (Co-fractionation), ECH1 (Co-fractionation), ECH1 (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, A0PJR5, A0R4Q3, A1RI92, A3D684, A4Y897, A4YI89, A6WQ25, A8ALR7, A9MR28, A9MYJ5, B1IRE0, B1LFW9, B4EY26, B4T6J5, B4TIG9, B4TWR3, B5BL54, B5F749, B5FHG4, B5R1Q9, B5RGA4, C0Q4L2, F1LU71, F4JML5, G4V4T7, J4KLY0, O07137, O34893, O53561, P14604, P24162, P30084, P31551, P34559, P44960, P45361, P52046, P53526, P55100

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 207 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
Mitochondrial protein import	10	11.9×	7e-06
RHOV GTPase cycle	5	10.1×	1e-02
Anchoring of the basal body to the plasma membrane	11	8.8×	1e-05
Peroxisomal protein import	7	8.6×	2e-03
Protein localization	6	8.1×	9e-03
Mitochondrial protein degradation	9	7.3×	7e-04
Aerobic respiration and respiratory electron transport	10	6.3×	7e-04
Respiratory electron transport	8	5.4×	1e-02

GO biological processes:

GO term	Partners	Fold	FDR
centriole replication	5	19.4×	3e-03
mitochondrial electron transport, NADH to ubiquinone	6	11.4×	6e-03
mitochondrion organization	10	8.0×	6e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

75 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	50
Likely benign	0
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

1351 predictions. Top by Δscore:

Variant	Effect	Δscore
19:38815725:C:CT	acceptor_gain	1.0000
19:38815725:C:T	acceptor_gain	1.0000
19:38815726:G:T	acceptor_gain	1.0000
19:38815730:G:C	acceptor_gain	1.0000
19:38815730:G:GC	acceptor_gain	1.0000
19:38815732:G:C	acceptor_gain	1.0000
19:38815732:G:GC	acceptor_gain	1.0000
19:38815733:T:C	acceptor_gain	1.0000
19:38815733:T:TC	acceptor_gain	1.0000
19:38815744:C:CT	acceptor_gain	1.0000
19:38815745:G:T	acceptor_gain	1.0000
19:38815853:TTA:T	donor_loss	1.0000
19:38815854:TA:T	donor_loss	1.0000
19:38815855:A:AC	donor_gain	1.0000
19:38815856:C:CC	donor_gain	1.0000
19:38815856:CCA:C	donor_gain	1.0000
19:38815856:CCAC:C	donor_loss	1.0000
19:38816003:CCCGG:C	acceptor_gain	1.0000
19:38816004:CCGG:C	acceptor_gain	1.0000
19:38816004:CCGGC:C	acceptor_gain	1.0000
19:38816005:CGG:C	acceptor_gain	1.0000
19:38816005:CGGC:C	acceptor_gain	1.0000
19:38816006:GG:G	acceptor_gain	1.0000
19:38816008:C:CC	acceptor_gain	1.0000
19:38816012:A:T	acceptor_gain	1.0000
19:38816013:G:C	acceptor_gain	1.0000
19:38816013:G:GC	acceptor_gain	1.0000
19:38816279:CCTA:C	donor_loss	1.0000
19:38816281:TACCT:T	donor_loss	1.0000
19:38816282:A:AT	donor_loss	1.0000

AlphaMissense

2143 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:38831360:A:T	V70D	0.997
19:38816287:A:T	V243D	0.995
19:38815935:G:C	S268R	0.990
19:38815935:G:T	S268R	0.990
19:38815937:T:G	S268R	0.990
19:38816306:C:G	A237P	0.989
19:38816480:C:G	R211P	0.989
19:38817092:A:C	C187W	0.989
19:38815911:C:A	K276N	0.988
19:38815911:C:G	K276N	0.988
19:38816007:G:C	S244R	0.988
19:38816007:G:T	S244R	0.988
19:38816285:T:G	S244R	0.988
19:38817348:A:T	I164N	0.988
19:38817326:G:C	C171W	0.986
19:38816326:C:G	R230P	0.984
19:38817075:A:G	F193S	0.984
19:38817099:C:G	R185P	0.984
19:38816341:A:G	L225P	0.983
19:38831085:G:C	F114L	0.983
19:38831085:G:T	F114L	0.983
19:38831087:A:G	F114L	0.983
19:38831332:A:C	N79K	0.983
19:38831332:A:T	N79K	0.983
19:38817109:A:G	C182R	0.982
19:38817120:A:G	L178P	0.982
19:38817328:A:G	C171R	0.982
19:38817364:A:G	C159R	0.982
19:38816305:G:T	A237D	0.981
19:38817094:A:G	C187R	0.980

dbSNP variants (sampled 300 via entrez): RS1000209634 (19:38825027 C>A), RS1000481761 (19:38819235 G>T), RS1000489116 (19:38828785 T>C), RS1001046589 (19:38828910 C>T), RS1001430739 (19:38829771 G>A), RS1001492238 (19:38825116 G>A), RS1001534329 (19:38820141 A>G), RS1001561210 (19:38829323 TGGTGGCG>T), RS1001675091 (19:38819567 G>A), RS1001761769 (19:38830029 C>T), RS1001881647 (19:38825883 C>T), RS1001973326 (19:38825720 G>A), RS1002150274 (19:38830431 C>T), RS1002271468 (19:38821328 G>A,C), RS1002484895 (19:38821527 C>A,G,T)

Disease associations

OMIM: gene MIM:600696 | 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
GCST006585_2542	Blood protein levels	2.000000e-33
GCST006999_4	Logical memory (immediate recall) in mild cognitive impairment	4.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004874	memory performance

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4523284 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

3 potent at pChembl≥5 of 3 total, top 3 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.40	Kd	40.04	nM	CHEMBL5653589
7.40	ED50	40.04	nM	CHEMBL5653589
5.54	Kd	2857	nM	CHEMBL4443828

PubChem BioAssay actives

2 with measured affinity, of 5 total; 2 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	2148279: Binding affinity to human ECH1 incubated for 45 mins by Kinobead based pull down assay	kd	0.0400	uM
2,5-difluoro-N-[3-fluoro-4-[6-methoxy-7-[3-(4-methylpiperazin-1-yl)propoxy]quinolin-4-yl]oxyphenyl]benzenesulfonamide	1573305: Binding affinity to ECH1 in SILAC-labeled human MDA-MB-231 cells lysate by mass spectrometry based kinAffinity assay	kd	2.8570	uM

CTD chemical–gene interactions

81 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression	6
bisphenol A	decreases expression, decreases methylation, increases expression, affects expression	5
Cyclosporine	decreases expression, increases expression	4
sodium arsenite	affects binding, increases reaction, decreases expression	2
Vorinostat	increases expression	2
Acetaminophen	decreases expression	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Tunicamycin	increases expression	2
Oleic Acid	affects cotreatment, decreases expression, increases expression	2
Particulate Matter	affects cotreatment, increases abundance, increases expression	2
afuresertib	increases expression	1
FR900359	increases phosphorylation	1
bisphenol F	increases expression	1
TAK-243	increases sumoylation	1
2,4,6-tribromophenol	increases expression	1
alpha-pinene	increases abundance, affects cotreatment, decreases expression	1
2,5,2’,5’-tetrachlorobiphenyl	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, increases expression	1
decabromobiphenyl ether	increases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	decreases expression	1
tetrabromobisphenol A	increases expression	1
cupric chloride	decreases expression	1
nivalenol	decreases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
K 7174	decreases expression	1
GW 4064	decreases expression, affects cotreatment	1

ChEMBL screening assays

4 unique, capped per target: 4 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4371435	Binding	Binding affinity to ECH1 in SILAC-labeled human MDA-MB-231 cells lysate by mass spectrometry based kinAffinity assay	Discovery of N-[4-(Quinolin-4-yloxy)phenyl]benzenesulfonamides as Novel AXL Kinase Inhibitors. — J Med Chem

Cellosaurus cell lines

4 cell lines: 3 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B2W7	Abcam HEK293T ECH1 KO	Transformed cell line	Female
CVCL_SL39	HAP1 ECH1 (-) 1	Cancer cell line	Male
CVCL_XN33	HAP1 ECH1 (-) 2	Cancer cell line	Male
CVCL_XN34	HAP1 ECH1 (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.