SOAT1

gene
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Also known as ACATACAT1

Summary

SOAT1 (sterol O-acyltransferase 1, HGNC:11177) is a protein-coding gene on chromosome 1q25.2, encoding Sterol O-acyltransferase 1 (P35610). Catalyzes the formation of fatty acid-cholesterol esters, which are less soluble in membranes than cholesterol.

The protein encoded by this gene belongs to the acyltransferase family. It is located in the endoplasmic reticulum, and catalyzes the formation of fatty acid-cholesterol esters. This gene has been implicated in the formation of beta-amyloid and atherosclerotic plaques by controlling the equilibrium between free cholesterol and cytoplasmic cholesteryl esters. Alternatively spliced transcript variants have been found for this gene.

Source: NCBI Gene 6646 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): beta-ketothiolase deficiency (Definitive, ClinGen)
  • GWAS associations: 3
  • Clinical variants (ClinVar): 932 total — 98 pathogenic, 79 likely-pathogenic
  • Druggable target: yes — 6 molecules with ChEMBL bioactivity
  • MANE Select transcript: NM_003101

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:11177
Approved symbolSOAT1
Namesterol O-acyltransferase 1
Location1q25.2
Locus typegene with protein product
StatusApproved
AliasesACAT, ACAT1
Ensembl geneENSG00000057252
Ensembl biotypeprotein_coding
OMIM102642
Entrez6646

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 13 protein_coding

ENST00000367619, ENST00000426956, ENST00000539888, ENST00000540564, ENST00000904812, ENST00000904813, ENST00000904814, ENST00000904815, ENST00000928394, ENST00000961795, ENST00000961796, ENST00000961797, ENST00000961798

RefSeq mRNA: 3 — MANE Select: NM_003101 NM_001252511, NM_001252512, NM_003101

CCDS: CCDS1330, CCDS58047, CCDS58048

Canonical transcript exons

ENST00000367619 — 16 exons

ExonStartEnd
ENSE00000522292179350296179350431
ENSE00000922012179344947179345076
ENSE00000922014179348844179348942
ENSE00001068524179342114179342192
ENSE00001068526179342862179342943
ENSE00001068529179343590179343635
ENSE00001160977179347600179347697
ENSE00001165663179351317179351462
ENSE00001199033179353585179358680
ENSE00001350391179293797179293936
ENSE00003467167179323437179323495
ENSE00003621111179337837179337896
ENSE00003633477179302677179302802
ENSE00003664429179339438179339545
ENSE00003694604179335506179335657
ENSE00003787334179341028179341310

Expression profiles

Bgee: expression breadth ubiquitous, 266 present calls, max score 99.35.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 50.2381 / max 673.9950, expressed in 1819 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
690646.87801818
69053.20861405
69070.151452

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
adrenal tissueUBERON:001830399.35gold quality
right adrenal gland cortexUBERON:003582797.96gold quality
right adrenal glandUBERON:000123397.54gold quality
adrenal cortexUBERON:000123597.37gold quality
adrenal glandUBERON:000236997.08gold quality
left adrenal glandUBERON:000123497.05gold quality
left adrenal gland cortexUBERON:003582597.05gold quality
upper leg skinUBERON:000426296.72gold quality
parotid glandUBERON:000183195.27gold quality
bronchial epithelial cellCL:000232894.30gold quality
endothelial cellCL:000011593.84gold quality
visceral pleuraUBERON:000240193.14gold quality
monocyteCL:000057693.06gold quality
mononuclear cellCL:000084292.57gold quality
leukocyteCL:000073892.30gold quality
islet of LangerhansUBERON:000000691.79gold quality
ventricular zoneUBERON:000305391.55gold quality
stromal cell of endometriumCL:000225590.42gold quality
parietal pleuraUBERON:000240090.25gold quality
pleuraUBERON:000097790.16gold quality
mammalian vulvaUBERON:000099789.78gold quality
calcaneal tendonUBERON:000370189.61gold quality
gall bladderUBERON:000211089.32gold quality
colonic epitheliumUBERON:000039788.67gold quality
mucosa of paranasal sinusUBERON:000503088.23gold quality
lower lobe of lungUBERON:000894987.84gold quality
epithelium of bronchusUBERON:000203187.80gold quality
bronchusUBERON:000218587.43gold quality
caput epididymisUBERON:000435887.42gold quality
pancreasUBERON:000126487.16gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes9.88

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPA

miRNA regulators (miRDB)

162 targeting SOAT1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-5692A100.0074.406850
HSA-MIR-8485100.0077.574731
HSA-MIR-3689D100.0066.141181
HSA-MIR-6851-5P100.0065.631294
HSA-MIR-4262100.0073.263931
HSA-MIR-3163100.0077.238605
HSA-MIR-1252-5P100.0069.802774
HSA-MIR-513A-5P100.0069.772465
HSA-MIR-371B-5P99.9975.344759
HSA-MIR-181A-5P99.9972.962995
HSA-MIR-181B-5P99.9972.972996
HSA-MIR-181C-5P99.9972.952996
HSA-MIR-181D-5P99.9973.042997
HSA-MIR-373-5P99.9875.364753
HSA-MIR-616-5P99.9875.584775
HSA-MIR-477599.9875.006394
HSA-MIR-548P99.9872.253784
HSA-MIR-60799.9773.625593
HSA-MIR-548AJ-3P99.9673.385345
HSA-MIR-548X-3P99.9673.385345
HSA-MIR-495-3P99.9672.814197
HSA-MIR-568899.9673.234504
HSA-MIR-365899.9673.874379
HSA-MIR-4666A-3P99.9671.713434
HSA-MIR-590-3P99.9674.346478
HSA-MIR-1468-3P99.9672.743797
HSA-MIR-570-3P99.9672.414910
HSA-MIR-548J-3P99.9472.614881
HSA-MIR-651-3P99.9473.485177

Literature-anchored findings (GeneRIF, showing 40)

  • allosteric activation by cholesterol (PMID:12533546)
  • polymorphism of the gene encoding acyl-coenzyme A: cholesterol acyltransferase 1 (SOAT1) is involved in the regulation of beta-amyloid peptide generation, is associated with low brain amyloid load and with low cerebrospinal fluid levels of cholesterol (PMID:12851640)
  • ACAT-1 transcripts predominate in human liver and ACAT-2 transcripts predominate in human duodenum and support the notion that ACAT-2 has an important regulatory role in liver and intestine. (PMID:14729857)
  • expression in monocytes infiltrating from the circulation to vascular walls may be enhanced by pre-existing transforming growth factor-beta1 (PMID:15219857)
  • A stable upstream stem-loop structure enhances selection of the first 5’-ORF-AUG as a main start codon for translation initiation of ACAT1 mRNA. (PMID:15253151)
  • increasing DGAT1, ACAT1, or ACAT2 expression stimulates the assembly and secretion of VLDL from liver cells (PMID:15308631)
  • a glucocorticoid response element (GRE) located within human ACAT1 gene P1 promoter to response to the elevation of human ACAT1 gene expression by dexamethasone could be functionally bound with glucocorticoid receptor (GR) proteins. (PMID:15353128)
  • The results of a comprehensive genetic assessment of SOAT1 variants in the NIMH AD Genetics Initiative study sample are presented. (PMID:15768051)
  • Disulfide linkage map shows that cysteine(C)92 is located on the cytoplasmic side of the endoplasmic reticulum (ER) membrane and the disulfide is located in the ER lumen, while all other free Cs are located within the hydrophobic region(s) of the enzyme. (PMID:15850387)
  • The structural features of various sterols as substrates and/or activators of ACAT1 and ACAT2 in vitro are reported. (PMID:15992359)
  • Our results indicate that the polymorphism rs1044925 in the 3’UTR of SOAT1 gene does not affect the risk of SAD in the northern Han-Chinese. (PMID:16043284)
  • results led us to construct a revised, nine-transmembrane domain model, with the active site His-460 located within a hitherto undisclosed transmembrane domain, between Arg-443 and Tyr-462 (PMID:16154994)
  • Serum-induced depletion of cellular cholesterol available for esterification by ACAT was a strong, independent predictor of major adverse cardiovascular events and death. (PMID:16230498)
  • The new ACAT inhibitor VULM1457 in concentration 0.03 and 0.1 micromol/l significantly down-regulated specific AM receptors on HepG2 cells, reduced AM secretion of HepG2 cells exposed to hypoxia. (PMID:16474185)
  • histidine residues located at the active site are very crucial both for the catalytic activity of the enzyme and for distinguishing ACAT1 from ACAT2 with respect to enzyme catalysis and substrate specificity (PMID:16647063)
  • These data show that even a modest decrease in ACAT activity can have robust suppressive effects on Abeta generation. (PMID:17412327)
  • Our study confirmed cognitive decline and highly frequent delirium after bypass heart surgery and excluded the possible role of SOAT-1 genotype polymorphisms in their genesis (PMID:17593314)
  • SOAT1 gene may possibly be only a minor risk factor in Alzheimer’s disease (PMID:17622762)
  • Several residues in one subunit closely interact with the same residues in the other subunit; mutating these res. to Cys does not lead to loss in enzyme activity. Mutating residues F453, A457, or H460 to Cys causes large loss in enzyme activity. (PMID:17691824)
  • increase in the in vitro ACAT1 activity in PC-3 prostate cancer cells treated with androgen (PMID:18000807)
  • In clear cell type renal cell carcinoma upregulation of ACAT-1 leads to high ACAT enzymatic activity, which accelerates the accumulation of cholesterol ester. (PMID:18269457)
  • The results suggest that rs1044925 polymorphism in ACAT1 gene is not only associated with serum LDL-C and nHDLC levels in healthy Chinese subjects in Chengdu area, but also with HDL-C level in subjects with endogenous hypertriglyceridemia. (PMID:18393248)
  • RNA secondary structures located in the vicinity of the GGC(1274-1276) codon are required for production of the 56-kDa isoform. (PMID:18542101)
  • ACAT inhibition may stimulate cholesterol-catabolic (cytochrome P450) pathway in lesion-macrophages. (PMID:18779653)
  • Angiotensin II enhances foam cell formation by upregulating ACAT1 expression predominantly through the actions of AT(1) receptor via the G protein/c-Src/PKC/MAPK pathway in human monocyte-macrophages (PMID:18971559)
  • Docosahexaenoic acid can act as a substrate for ACAT1. In the manner of a poor substrate, docosahexaenoic acid also inhibited the activity of ACAT1. (PMID:19217763)
  • Results suggest that the ERK, p38MAPK and JNK signaling pathways may be involved in insulin-mediated regulation of ACAT1, but no PI3K and PLC-gamma signaling pathways were involved in the present study. (PMID:19269342)
  • Results show that signaling through ACAT/cholesterol esterification is a novel pathway for the CCK2R that contributes to tumor cell proliferation and invasion. (PMID:19502590)
  • Leptin accelerates cholesteryl ester accumulation in human monocyte-derived macrophages by increasing ACAT-1 expression. (PMID:19625677)
  • High ACAT1 expression is associated with estrogen receptor negative basal-like breast cancer. (PMID:19851860)
  • Macrophages cope with cholesterol loading by using a novel mechanism: they produce more ER-derived vesicles with elevated ACAT1 enzyme activity without having to produce more ACAT1 protein. (PMID:20460577)
  • the plaque-modulating effects of K-604 can be explained by stimulation of procollagen production independent of ACAT inhibition in addition to potent inhibition of macrophage ACAT-1 (PMID:20843517)
  • Visfatin may down-regulate the ABCA1 expression and up-regulate the ACAT1 expression via PPARgamma signal transduction pathway, which decreases the outflow of free cholesterol, increases the content of cholesterol esters, and then induces foam cell formation. (PMID:20945045)
  • the polymorphism of rs1044925 in the ACAT-1 gene is mainly associated with female serum total cholesterol, LDL-C and ApoB levels in the Bai Ku Yao population (PMID:21143839)
  • In THP-1-derived macrophages and foam cells, the expression level of ACAT-1 and cellular cholesterol content increased significantly in response to asymmetric dimethylarginine treatment in a time- and concentration-dependent manner. (PMID:21177161)
  • SF-1-dependent up-regulation of SOAT1 may be important for maintaining readily-releasable cholesterol reserves needed for active steroidogenesis and during episodes of recurrent stress. (PMID:21239516)
  • These findings suggest the potential involvement of MAPK and STAT pathways in norcantharidin-induced apoptogenesis. (PMID:21266192)
  • These studies demonstrate that both SIAE and SOAT activities seem to be responsible for the enhanced level of Neu5,9Ac(2) in lymphoblasts, which is a hallmark in acute lymphoblastic leukemia (PMID:21803834)
  • The present study shows that the C allele carriers of ACAT-1 rs1044925 SNP in male hyperlipidemic subjects had higher serum total cholesterol, HDL-cholesterol and ApoAI levels than the C allele noncarriers. (PMID:22243772)
  • Essential oil of Pinus koraiensis leaves significantly inhibited hACAT1 levels in HepG2 cells. (PMID:22275303)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_reriosoat1ENSDARG00000062297
mus_musculusSoat1ENSMUSG00000026600
rattus_norvegicusSoat1ENSRNOG00000004111
drosophila_melanogasterCG8112FBGN0037612
caenorhabditis_elegansWBGENE00007174

Paralogs (2): SOAT2 (ENSG00000167780), DGAT1 (ENSG00000185000)

Protein

Protein identifiers

Sterol O-acyltransferase 1P35610 (reviewed: P35610)

Alternative names: Acyl-coenzyme A:cholesterol acyltransferase 1, Cholesterol acyltransferase 1

All UniProt accessions (2): P35610, B1APM4

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the formation of fatty acid-cholesterol esters, which are less soluble in membranes than cholesterol. Plays a role in lipoprotein assembly and dietary cholesterol absorption. Preferentially utilizes oleoyl-CoA ((9Z)-octadecenoyl-CoA) as a substrate: shows a higher activity towards an acyl-CoA substrate with a double bond at the delta-9 position (9Z) than towards saturated acyl-CoA or an unsaturated acyl-CoA with a double bond at the delta-7 (7Z) or delta-11 (11Z) positions.

Subunit / interactions. Homotetramer; composed of two homodimers. Interacts with UBIAD1.

Subcellular location. Endoplasmic reticulum membrane.

Activity regulation. Cholesterol O-acyltransferase activity is inhibited by nevanimibe.

Domain organisation. Each protomer consists of 9 transmembrane segments, which enclose a cytosolic tunnel and a transmembrane tunnel that converge at the predicted catalytic site: acyl-CoA enters the active site through the cytosolic tunnel, whereas cholesterol enters from the side through the transmembrane tunnel.

Induction. Highly activated by the presence of cholesterol.

Similarity. Belongs to the membrane-bound acyltransferase family. Sterol o-acyltransferase subfamily.

Isoforms (3)

UniProt IDNamesCanonical?
P35610-11yes
P35610-22
P35610-33

RefSeq proteins (3): NP_001239440, NP_001239441, NP_003092* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR004299MBOAT_famFamily
IPR014371Oat_ACAT_DAG_AREFamily
IPR030687Sterol_acyltranf_metaFamily

Pfam: PF03062

Enzyme classification (BRENDA):

  • EC 2.3.1.26 — sterol O-acyltransferase (BRENDA: 24 organisms, 85 substrates, 472 inhibitors, 32 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

8 substrates with measured Km, best-characterized 8. Km ranges are aggregated across organisms/conditions.

SubstrateKm (mM)Measurements
OLEOYL-COA0.0013–0.06912
CIS-9-OCTADECENOYL-COA6
CHOLESTEROL0.0016–0.062
ELAIDOYL-COA0.00221
LINOLEOYL-COA0.00281
PALMITOYL-COA0.0381
PREGNENOLONE0.00121
STEAROYL-COA0.00641

Catalyzed reactions (Rhea), 10 shown:

  • an acyl-CoA + cholesterol = a cholesterol ester + CoA (RHEA:17729)
  • cholesterol + (9Z)-octadecenoyl-CoA = cholesteryl (9Z-octadecenoate) + CoA (RHEA:41436)
  • cholesterol + hexadecanoyl-CoA = cholesteryl hexadecanoate + CoA (RHEA:42792)
  • (9Z,12Z)-octadecadienoyl-CoA + cholesterol = cholesteryl (9Z,12Z)-octadecadienoate + CoA (RHEA:42796)
  • octadecanoyl-CoA + cholesterol = cholesteryl octadecanoate + CoA (RHEA:42812)
  • (5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + cholesterol = cholesteryl (5Z,8Z,11Z,14Z)-eicosatetraenoate + CoA (RHEA:42816)
  • a sterol + a long-chain fatty acyl-CoA = a long-chain 3-hydroxysterol ester + CoA (RHEA:59816)
  • (9Z)-hexadecenoyl-CoA + cholesterol = cholesteryl (9Z)-hexadecenoate + CoA (RHEA:64320)
  • (11Z)-octadecenoyl-CoA + cholesterol = cholesteryl (11Z)-octadecenoate + CoA (RHEA:64324)
  • (7Z)-octadecenoyl-CoA + cholesterol = cholesteryl (7Z)-octadecenoate + CoA (RHEA:64328)

UniProt features (84 total): mutagenesis site 24, helix 19, topological domain 10, transmembrane region 9, binding site 8, modified residue 2, splice variant 2, strand 2, turn 2, chain 1, region of interest 1, short sequence motif 1, active site 1, disulfide bond 1, sequence variant 1

Structure

Experimental structures (PDB)

5 structures.

PDBMethodResolution (Å)
6P2JELECTRON MICROSCOPY3
6P2PELECTRON MICROSCOPY3.1
6L47ELECTRON MICROSCOPY3.5
6L48ELECTRON MICROSCOPY3.5
6VUMELECTRON MICROSCOPY3.67

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P35610-F181.220.51

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): 460

Ligand- & substrate-binding residues (8): 137; 415; 418; 421; 425; 433; 445; 456

Post-translational modifications (2): 1, 8

Disulfide bonds (1): 528–546

Mutagenesis-validated functional residues (24):

PositionPhenotype
262strongly reduced cholesterol o-acyltransferase activity.
263strongly reduced cholesterol o-acyltransferase activity.
269nearly normal expression and enzyme activity.
269no expression nor activity.
306strongly reduced cholesterol o-acyltransferase activity.
367abolished homodimerization; when associated with 504-a–a-508.
386abolished cholesterol o-acyltransferase activity.
400low expression, loss of enzymatic activity.
407almost abolished cholesterol o-acyltransferase activity.
415reduced cholesterol o-acyltransferase activity.
418reduced cholesterol o-acyltransferase activity.
420almost abolished cholesterol o-acyltransferase activity.
421almost abolished cholesterol o-acyltransferase activity.
425strongly reduced cholesterol o-acyltransferase activity.
428almost abolished cholesterol o-acyltransferase activity.
429strongly reduced cholesterol o-acyltransferase activity.
445reduced cholesterol o-acyltransferase activity.
452–456in qq mutant; almost abolished cholesterol o-acyltransferase activity.
452–453almost abolished cholesterol o-acyltransferase activity.
456abolished cholesterol o-acyltransferase activity.
460abolished cholesterol o-acyltransferase activity.
504–508abolished homodimerization; when associated with a-367.
507strongly reduced cholesterol o-acyltransferase activity.
518loss of enzymatic activity.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

IDPathway
R-HSA-8964038LDL clearance
R-HSA-174824Plasma lipoprotein assembly, remodeling, and clearance
R-HSA-382551Transport of small molecules
R-HSA-8964043Plasma lipoprotein clearance

MSigDB gene sets: 637 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, AHRARNT_01, GOBP_LIPID_MODIFICATION, E2F_Q4, GOBP_HEPATICOBILIARY_SYSTEM_DEVELOPMENT, GOBP_FATTY_ACID_CATABOLIC_PROCESS, GOBP_EPITHELIUM_DEVELOPMENT, ZHAN_LATE_DIFFERENTIATION_GENES_UP, GOBP_METANEPHROS_DEVELOPMENT, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, E2F4DP1_01, GOBP_STEROL_HOMEOSTASIS, GOBP_METANEPHRIC_EPITHELIUM_DEVELOPMENT, GCANCTGNY_MYOD_Q6, GOBP_COENZYME_A_METABOLIC_PROCESS

GO Biological Process (10): cholesterol metabolic process (GO:0008203), macrophage derived foam cell differentiation (GO:0010742), cholesterol storage (GO:0010878), cholesterol efflux (GO:0033344), very-low-density lipoprotein particle assembly (GO:0034379), low-density lipoprotein particle clearance (GO:0034383), cholesterol homeostasis (GO:0042632), positive regulation of amyloid precursor protein biosynthetic process (GO:0042986), lipid metabolic process (GO:0006629), steroid metabolic process (GO:0008202)

GO Molecular Function (9): fatty-acyl-CoA binding (GO:0000062), sterol O-acyltransferase activity (GO:0004772), cholesterol binding (GO:0015485), cholesterol O-acyltransferase activity (GO:0034736), identical protein binding (GO:0042802), protein binding (GO:0005515), obsolete O-acyltransferase activity (GO:0008374), transferase activity (GO:0016740), acyltransferase activity (GO:0016746)

GO Cellular Component (3): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

CategoryPathways
Plasma lipoprotein clearance1
Transport of small molecules1
Plasma lipoprotein assembly, remodeling, and clearance1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
sterol metabolic process1
secondary alcohol metabolic process1
foam cell differentiation1
lipid storage1
cholesterol transport1
plasma lipoprotein particle assembly1
plasma lipoprotein particle clearance1
low-density lipoprotein particle disassembly1
sterol homeostasis1
positive regulation of glycoprotein biosynthetic process1
amyloid precursor protein biosynthetic process1
regulation of amyloid precursor protein biosynthetic process1
primary metabolic process1
lipid metabolic process1
acyl-CoA binding1
fatty acid derivative binding1
acyltransferase activity, transferring groups other than amino-acyl groups1
sterol binding1
alcohol binding1
sterol O-acyltransferase activity1
protein binding1
binding1
catalytic activity1
transferase activity1
cytoplasm1
endomembrane system1
intracellular membrane-bounded organelle1
organelle membrane1
nuclear outer membrane-endoplasmic reticulum membrane network1
endoplasmic reticulum subcompartment1
cellular anatomical structure1

Protein interactions and networks

STRING

1758 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
SOAT1VPS52Q8N1B4792
SOAT1SCARB1Q8WTV0684
SOAT1HMGCRP04035684
SOAT1NCEH1Q6PIU2665
SOAT1ABCA1O95477613
SOAT1UBIAD1Q9Y5Z9591
SOAT1ABCG1P45844574
SOAT1CES1P23141570
SOAT1SQLEQ14534553
SOAT1LCATP04180552
SOAT1SREBF2Q12772552
SOAT1APOEP02649513
SOAT1SCAPQ12770491
SOAT1CYP46A1Q9Y6A2490
SOAT1DGAT2Q96PD7487

IntAct

180 interactions, top by confidence:

ABTypeScore
HRASRAF1psi-mi:“MI:0914”(association)0.980
NRASRAF1psi-mi:“MI:0914”(association)0.930
ENTREP1WWP2psi-mi:“MI:0914”(association)0.850
RAB11AEVI5psi-mi:“MI:0914”(association)0.800
ERLIN1ERLIN2psi-mi:“MI:0914”(association)0.740
CFTRESYT2psi-mi:“MI:2364”(proximity)0.710
HRASRGL2psi-mi:“MI:0914”(association)0.660
CANXSOAT1psi-mi:“MI:0403”(colocalization)0.610
SOAT1CARNMT1psi-mi:“MI:0915”(physical association)0.590
ADGRG5KLRG2psi-mi:“MI:0914”(association)0.530
SEMA7ASGPL1psi-mi:“MI:0914”(association)0.530
LYPD6PLXNB2psi-mi:“MI:0914”(association)0.530
TMPRSS12FZD6psi-mi:“MI:0914”(association)0.530
PEX19FAM20Bpsi-mi:“MI:0914”(association)0.530
ADAM33LRP5psi-mi:“MI:0914”(association)0.530
SMPD3ENDOD1psi-mi:“MI:0914”(association)0.530
ASGR2MT-CO1psi-mi:“MI:0914”(association)0.530
FAM187BHSPA5psi-mi:“MI:0914”(association)0.530
RTN4RSOAT1psi-mi:“MI:0914”(association)0.530
TSPAN5SC5Dpsi-mi:“MI:0914”(association)0.530
APOC2APOEpsi-mi:“MI:0914”(association)0.530

BioGRID (389): SOAT1 (Affinity Capture-MS), SOAT1 (Affinity Capture-MS), SOAT1 (Affinity Capture-MS), SOAT1 (Affinity Capture-MS), SOAT1 (Affinity Capture-MS), SOAT1 (Affinity Capture-MS), SOAT1 (Affinity Capture-MS), SOAT1 (Affinity Capture-MS), SOAT1 (Affinity Capture-MS), SOAT1 (Proximity Label-MS), SOAT1 (Proximity Label-MS), SOAT1 (Proximity Label-MS), SOAT1 (Proximity Label-MS), SOAT1 (Proximity Label-MS), SOAT1 (Proximity Label-MS)

ESM2 similar proteins: A0A078H868, A0AAS4, A0JP80, A6X919, D4AD75, O70536, O77760, O77761, P23913, P35610, P53439, P56079, Q14739, Q20696, Q20735, Q28677, Q2PZI1, Q4JM44, Q4R763, Q5R7H4, Q5RK27, Q60457, Q61263, Q63632, Q63633, Q657W3, Q6AX73, Q6Z0E2, Q7T3T4, Q7TSX5, Q86VZ5, Q8IWX5, Q8NHU3, Q8VCQ6, Q91V14, Q924N4, Q965Q4, Q9D4B1, Q9FJB4, Q9H2X9

Diamond homologs: A0A0P0WY03, A0A161IUT7, I1MSF2, K7LC65, O70536, O75907, O75908, O77759, O77760, O77761, O88908, P25628, P35610, P53629, P84285, Q55BH9, Q5GKZ7, Q5I396, Q60457, Q61263, Q7TQM4, Q876L2, Q876L3, Q8MK44, Q9ERM3, Q9GMF1, Q9SLD2, Q9Z2A7, Q9UU82, Q10269

SIGNOR signaling

3 interactions.

AEffectBMechanism
Avasimibedown-regulatesSOAT1“chemical inhibition”
cholesterol“up-regulates activity”SOAT1“chemical activation”
SOAT1“down-regulates quantity”“cholesteryl ester”“chemical modification”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 218 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:

PathwayPartnersFoldFDR
Signaling by FGFR1 in disease612.5×2e-03
RHOQ GTPase cycle79.0×2e-03

GO biological processes:

GO termPartnersFoldFDR
cholesterol transport520.1×6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic98
Likely pathogenic79
Uncertain significance230
Likely benign324
Benign63

Top pathogenic / likely-pathogenic (30)

Variant IDHGVSClassification
1069757NM_000019.4(ACAT1):c.1173dup (p.Ala392fs)Pathogenic
1073055NM_000019.4(ACAT1):c.233del (p.Lys78fs)Pathogenic
1076202NM_000019.4(ACAT1):c.1100T>A (p.Leu367Ter)Pathogenic
1076974NC_000011.9:g.(?107992324)(107992415_?)delPathogenic
1172774NM_000019.4(ACAT1):c.252del (p.Glu85fs)Pathogenic
1172775NM_000019.4(ACAT1):c.1117A>T (p.Lys373Ter)Pathogenic
1332739NM_000019.4(ACAT1):c.731-2A>GPathogenic
1367924NC_000011.9:g.(?108005849)(108005989_?)delPathogenic
1374250NM_000019.4(ACAT1):c.316C>T (p.Gln106Ter)Pathogenic
1384281NM_000019.4(ACAT1):c.846dup (p.Ala283fs)Pathogenic
1426396NM_000019.4(ACAT1):c.1189C>A (p.His397Asn)Pathogenic
1449779NM_000019.4(ACAT1):c.826+2T>CPathogenic
1452347NM_000019.4(ACAT1):c.655_656insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCTATTAATTCTT (p.Tyr219delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTrpSerArgSerProAspLeuMetIleHisProProArgProProLysValLeuGlyLeuGlnAlaTer)Pathogenic
1454055NM_000019.4(ACAT1):c.763G>T (p.Glu255Ter)Pathogenic
1459346NC_000011.9:g.(?108010782)(108012437_?)delPathogenic
147281GRCh38/hg38 11q22.3(chr11:107479091-108222532)x1Pathogenic
1705360NM_000019.4(ACAT1):c.433C>T (p.Gln145Ter)Pathogenic
193787NM_000019.4(ACAT1):c.1006-4_1006-1delinsAAAPathogenic
1991943NM_000019.4(ACAT1):c.649_652dup (p.Ser218Ter)Pathogenic
2001273NM_000019.4(ACAT1):c.330dup (p.Ala111fs)Pathogenic
2003666NM_000019.4(ACAT1):c.272del (p.Met91fs)Pathogenic
2011809NM_000019.4(ACAT1):c.170del (p.Gly57fs)Pathogenic
208341NM_000019.4(ACAT1):c.149del (p.Thr50fs)Pathogenic
2099256NM_000019.4(ACAT1):c.542_543del (p.Lys181fs)Pathogenic
2101162NM_000019.4(ACAT1):c.75_76del (p.Glu25fs)Pathogenic
2115197NM_000019.4(ACAT1):c.580-93_626delPathogenic
2117488NM_000019.4(ACAT1):c.104C>G (p.Ser35Ter)Pathogenic
2127596NM_000019.4(ACAT1):c.835del (p.Thr279fs)Pathogenic
2169323NM_001386678.1(ACAT1):c.120+2267_120+2268delPathogenic
225062NM_000019.4(ACAT1):c.757G>A (p.Asp253Asn)Pathogenic

SpliceAI

3645 predictions. Top by Δscore:

VariantEffectΔscore
11:108128830:G:GTdonor_gain1.0000
11:108128835:GGCTT:Gdonor_gain1.0000
11:108128850:G:GTdonor_gain1.0000
11:108128861:C:Gdonor_gain1.0000
11:108131901:TTACA:Tacceptor_loss1.0000
11:108131902:TACAG:Tacceptor_loss1.0000
11:108131904:CAG:Cacceptor_loss1.0000
11:108131905:A:AGacceptor_gain1.0000
11:108131905:A:Gacceptor_loss1.0000
11:108131905:AG:Aacceptor_gain1.0000
11:108131906:G:Aacceptor_loss1.0000
11:108131906:G:GAacceptor_gain1.0000
11:108131906:GG:Gacceptor_gain1.0000
11:108131906:GGA:Gacceptor_gain1.0000
11:108131906:GGAA:Gacceptor_gain1.0000
11:108131951:GAAG:Gdonor_gain1.0000
11:108131953:AG:Adonor_gain1.0000
11:108131954:GG:Gdonor_gain1.0000
11:108131954:GGT:Gdonor_loss1.0000
11:108131955:G:GGdonor_gain1.0000
11:108131955:GTAA:Gdonor_loss1.0000
11:108134217:AAAG:Aacceptor_gain1.0000
11:108134217:AAAGG:Aacceptor_gain1.0000
11:108134301:G:GTdonor_gain1.0000
11:108138882:T:TAacceptor_gain1.0000
11:108138883:G:Aacceptor_gain1.0000
11:108138891:T:Aacceptor_gain1.0000
11:108138893:C:CAacceptor_gain1.0000
11:108138896:A:AGacceptor_gain1.0000
11:108138896:A:Gacceptor_loss1.0000

AlphaMissense

3646 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
1:179348850:T:AW408R1.000
1:179348850:T:CW408R1.000
1:179347690:T:CF403S0.999
1:179348847:T:AW407R0.999
1:179348847:T:CW407R0.999
1:179348852:G:CW408C0.999
1:179348852:G:TW408C0.999
1:179348886:T:AW420R0.999
1:179348886:T:CW420R0.999
1:179348891:T:AN421K0.999
1:179348891:T:GN421K0.999
1:179348907:T:AW427R0.999
1:179348907:T:CW427R0.999
1:179351376:T:AW504R0.999
1:179351376:T:CW504R0.999
1:179342913:C:AP304H0.998
1:179342928:G:CR309P0.998
1:179347674:T:CF398L0.998
1:179347676:T:AF398L0.998
1:179347676:T:GF398L0.998
1:179347680:G:CD400H0.998
1:179347689:T:CF403L0.998
1:179347691:C:AF403L0.998
1:179347691:C:GF403L0.998
1:179348851:G:CW408S0.998
1:179348911:T:CL428P0.998
1:179350338:T:CF453L0.998
1:179350340:T:AF453L0.998
1:179350340:T:GF453L0.998
1:179350351:C:AA457D0.998

dbSNP variants (sampled 300 via entrez): RS1000039288 (1:179315359 G>A), RS1000042421 (1:179338418 C>G), RS1000066189 (1:179321877 T>C), RS1000109723 (1:179343319 G>T), RS1000177625 (1:179350208 C>T), RS1000212514 (1:179301606 G>A), RS1000279920 (1:179306520 T>C), RS1000325527 (1:179345442 A>G,T), RS1000355987 (1:179302984 T>A), RS1000394663 (1:179357351 T>C), RS1000401571 (1:179313174 G>A,C), RS1000463421 (1:179357168 G>A), RS1000482391 (1:179298574 T>C,G), RS1000510911 (1:179305524 A>G,T), RS1000514612 (1:179298808 T>G)

Disease associations

OMIM: gene MIM:102642 | disease phenotypes: MIM:203750, MIM:208900

GenCC curated gene-disease

DiseaseClassificationInheritance
beta-ketothiolase deficiencyDefinitiveAutosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

DiseaseClassificationInheritance
beta-ketothiolase deficiencyDefinitiveAR

Mondo (3): beta-ketothiolase deficiency (MONDO:0008760), ataxia telangiectasia (MONDO:0008840), primary ovarian failure (MONDO:0005387)

Orphanet (3): Beta-ketothiolase deficiency (Orphanet:134), Ataxia-telangiectasia (Orphanet:100), NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

StudyTraitp-value
GCST007250_11Nonunion in individuals with fractures3.000000e-07
GCST009391_1527Metabolite levels6.000000e-06
GCST010002_248Refractive error4.000000e-19

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0009707fractures, ununited
EFO:0009771methionine measurement

MeSH disease descriptors (3)

DescriptorNameTree numbers
D001260Ataxia TelangiectasiaC10.228.140.252.190.530.060; C10.562.100; C10.597.350.090.500.530.060; C14.907.823.213; C16.320.080; C16.320.798.250; C18.452.284.060; C20.673.795.250
D016649Primary Ovarian InsufficiencyC12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750
C535434Beta ketothiolase deficiency (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2782 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

6 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 173,103 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

MoleculeNamePhasePatents
CHEMBL103PROGESTERONE4162,141
CHEMBL101309AVASIMIBE210,153
CHEMBL1908306EFLUCIMIBE2272
CHEMBL46423NEVANIMIBE278
CHEMBL478858PACTIMIBE2260
CHEMBL4297354AZD-76871199

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

Binding affinities (BindingDB)

44 measured of 46 human assays (46 total across all organisms); most potent 44 below. Values come from heterogeneous assays and are not directly comparable.

LigandMeasureValuePatent
[4-[2-benzyl-5-[2,6-di(propan-2-yl)anilino]-3,5-dioxopentyl]phenyl] 2-(2-oxoazepan-1-yl)acetateIC503.2 nMUS-9149492: Method for selectively inhibiting ACAT1 in the treatment of alzheimer’s disease
[4-[2-benzyl-5-[2,6-di(propan-2-yl)anilino]-3,5-dioxopentyl]phenyl] 7-(2-oxoazepan-1-yl)heptanoateIC503.6 nMUS-9149492: Method for selectively inhibiting ACAT1 in the treatment of alzheimer’s disease
4-benzyl-N-[2,6-di(propan-2-yl)phenyl]-3-oxo-5-phenylpentanamideIC504.2 nMUS-9149492: Method for selectively inhibiting ACAT1 in the treatment of alzheimer’s disease
4-benzyl-N-[2,6-di(propan-2-yl)phenyl]-5-(4-hydroxyphenyl)-3-oxopentanamideIC5010.3 nMUS-9149492: Method for selectively inhibiting ACAT1 in the treatment of alzheimer’s disease
2-[4-(4-{4-amino-7,7-dimethyl-7H-pyrimido[4,5-b][1,4]oxazin-6-yl}phenyl)cyclohexyl]acetic acidIC5015 nM
2-[4-(4-{4-amino-7,7-dimethyl-7H-pyrimido[4,5-b][1,4]oxazin-6-yl}phenyl)bicyclo[2.2.2]octan-1-yl]acetic acidIC5015 nM
4-(4-{4-amino-7,7-dimethyl-7H-pyrimido[4,5-b][1,4]oxazin-6-yl}phenyl)bicyclo[2.2.2]octane-1-carboxylic acidIC5028 nM
2-[4-(4-{4-amino-7,7-dimethyl-7H-pyrimido[4,5-b][1,4]oxazin-6-yl}phenyl)bicyclo[2.2.2]octan-1-yl]propanoic acidIC5028 nM
(2S)-2-dodecylsulfanyl-N-(4-hydroxy-2,3,5-trimethylphenyl)-2-phenylacetamideIC5039 nMUS-9149492: Method for selectively inhibiting ACAT1 in the treatment of alzheimer’s disease
2-[5-(4-{4-amino-7,7-dimethyl-7H-pyrimido[4,5-b][1,4]oxazin-6-yl}phenyl)bicyclo[3.2.2]nonan-1-yl]acetic acidIC5069 nM
2-[3-(4-{4-amino-7,7-dimethyl-7H-pyrimido[4,5-b][1,4]oxazin-6-yl}phenyl)adamantan-1-yl]acetic acidIC50120 nM
3-(4-{4-amino-7,7-dimethyl-7H-pyrimido[4,5-b][1,4]oxazin-6-yl}phenyl)adamantane-1-carboxylic acidIC50250 nM
2-[4-[2-(1H-benzimidazol-2-ylsulfanyl)ethyl]piperazin-1-yl]-N-[6-methyl-2,4-bis(methylsulfanyl)-3-pyridinyl]acetamideIC50450 nMUS-9149492: Method for selectively inhibiting ACAT1 in the treatment of alzheimer’s disease
(3R,6S,9S,13S)-9-benzyl-13-[(2S)-hexan-2-yl]-6-methyl-3-(2-methylpropyl)-1-oxa-4,7,10-triazacyclotridecane-2,5,8,11-tetroneIC50600 nMUS-9149492: Method for selectively inhibiting ACAT1 in the treatment of alzheimer’s disease
(3R,6S,9S,13S)-9-benzyl-3-[(2S)-butan-2-yl]-13-[(2S)-hexan-2-yl]-6-methyl-1-oxa-4,7,10-triazacyclotridecane-2,5,8,11-tetroneIC50900 nMUS-9149492: Method for selectively inhibiting ACAT1 in the treatment of alzheimer’s disease
[2-[(5aS,6S,8S,9aR)-6-(4-cyanobenzoyl)oxy-5a-methyl-1,10-dioxo-3-pyridin-3-yl-7,8,9,9a-tetrahydro-6H-pyrano[4,3-b]chromen-8-yl]-2-hydroxypropyl] 4-cyanobenzoateIC5017800 nMUS-10278962: Tricyclic analogues, preparation method and uses thereof
1-[(1,3-diphenylpyrazol-5-yl)amino]decan-2-oneIC5023000 nMUS-9149492: Method for selectively inhibiting ACAT1 in the treatment of alzheimer’s disease
N-(1,3-diphenylpyrazol-5-yl)nonanamideIC5023000 nMUS-12419847: Composition and method for attenuating neuroinflammation, amyloidopathy and tauopathy
1-[(1,3-diphenylpyrazol-5-yl)amino]nonan-2-oneIC5024000 nMUS-9149492: Method for selectively inhibiting ACAT1 in the treatment of alzheimer’s disease
N-(1,3-diphenylpyrazol-5-yl)octanamideIC5024000 nMUS-12419847: Composition and method for attenuating neuroinflammation, amyloidopathy and tauopathy
N-decyl-1,3-diphenylpyrazol-5-amineIC5039000 nMUS-9149492: Method for selectively inhibiting ACAT1 in the treatment of alzheimer’s disease
N-nonyl-1,3-diphenylpyrazol-5-amineIC5039000 nMUS-12419847: Composition and method for attenuating neuroinflammation, amyloidopathy and tauopathy
(E)-3-(3,4-dihydroxyphenyl)-N-[4-[2-(3,4,5-trimethoxyphenyl)ethoxy]phenyl]prop-2-enamideIC5055000 nMUS-20250248955: PHENYL ACRYLIC ACID COMPOUND, AND PREPARATION METHOD AND APPLICATION THEREOF
[(2R)-2-[(5aR,6R,8R,9aR,10R)-6-acetyloxy-10-hydroxy-5a-methyl-1-oxo-3-pyridin-3-yl-6,7,8,9,9a,10-hexahydropyrano[4,3-b]chromen-8-yl]-2-acetyloxypropyl] acetateIC5056700 nMUS-10278962: Tricyclic analogues, preparation method and uses thereof
(E)-3-[3,4-bis(methoxymethoxy)phenyl]-N-[4-[2-(4-methoxyphenyl)ethoxy]phenyl]prop-2-enamideIC5059000 nMUS-20250248955: PHENYL ACRYLIC ACID COMPOUND, AND PREPARATION METHOD AND APPLICATION THEREOF
(E)-3-[3,4-bis(methoxymethoxy)phenyl]-N-[4-[2-(3,4,5-trimethoxyphenyl)ethoxy]phenyl]prop-2-enamideIC5060000 nMUS-20250248955: PHENYL ACRYLIC ACID COMPOUND, AND PREPARATION METHOD AND APPLICATION THEREOF
N-(2-phenylphenyl)octanamideIC5061000 nMUS-9149492: Method for selectively inhibiting ACAT1 in the treatment of alzheimer’s disease
[(5aS,6S,8S,9aS,10S)-10-acetyloxy-8-(1,2-diacetyloxypropan-2-yl)-5a-methyl-1-oxo-3-pyridin-3-yl-6,7,8,9,9a,10-hexahydropyrano[4,3-b]chromen-6-yl] 4-cyanobenzoateIC5064700 nMUS-10278962: Tricyclic analogues, preparation method and uses thereof
N-(2-phenylphenyl)nonanamideIC5065000 nMUS-9149492: Method for selectively inhibiting ACAT1 in the treatment of alzheimer’s disease
(E)-3-(3,4-dihydroxyphenyl)-N-[4-[2-(3,4-dimethoxyphenyl)ethoxy]phenyl]prop-2-enamideIC5066000 nMUS-20250248955: PHENYL ACRYLIC ACID COMPOUND, AND PREPARATION METHOD AND APPLICATION THEREOF
[4-[2-(3,4-dimethoxyphenyl)ethoxy]-3-methoxyphenyl] (E)-3-(3,4-dihydroxyphenyl)prop-2-enoateIC5084400 nMUS-20250248955: PHENYL ACRYLIC ACID COMPOUND, AND PREPARATION METHOD AND APPLICATION THEREOF
(E)-3-(3,4-dihydroxyphenyl)-N-[4-[2-(4-methoxyphenyl)ethoxy]phenyl]prop-2-enamideIC5087000 nMUS-20250248955: PHENYL ACRYLIC ACID COMPOUND, AND PREPARATION METHOD AND APPLICATION THEREOF
[(2R)-2-[(5aR,6R,8R,9aS,10S)-6-acetyloxy-10-hydroxy-5a-methyl-1-oxo-3-pyridin-3-yl-6,7,8,9,9a,10-hexahydropyrano[4,3-b]chromen-8-yl]-2-acetyloxypropyl] acetateIC5087400 nMUS-10278962: Tricyclic analogues, preparation method and uses thereof
(E)-3-(3,4-dihydroxyphenyl)-N-[4-[2-(4-methylphenyl)ethoxy]phenyl]prop-2-enamideIC5091000 nMUS-20250248955: PHENYL ACRYLIC ACID COMPOUND, AND PREPARATION METHOD AND APPLICATION THEREOF
[2-[(5aS,6S,8S,9aS,10S)-6-acetyloxy-10-hydroxy-5a-methyl-1-oxo-3-pyridin-3-yl-6,7,8,9,9a,10-hexahydropyrano[4,3-b]chromen-8-yl]-2-acetyloxypropyl] acetateIC50108000 nMUS-10278962: Tricyclic analogues, preparation method and uses thereof
(E)-3-[3,4-bis(methoxymethoxy)phenyl]-N-[4-[2-(4-methylphenyl)ethoxy]phenyl]prop-2-enamideIC50111000 nMUS-20250248955: PHENYL ACRYLIC ACID COMPOUND, AND PREPARATION METHOD AND APPLICATION THEREOF
(E)-3-(3,4-dihydroxyphenyl)-N-[4-(2-phenylethoxy)phenyl]prop-2-enamideIC50112000 nMUS-20250248955: PHENYL ACRYLIC ACID COMPOUND, AND PREPARATION METHOD AND APPLICATION THEREOF
(E)-3-(3,4-dihydroxyphenyl)-N-[4-[2-(4-hydroxyphenyl)ethoxy]phenyl]prop-2-enamideIC50114000 nMUS-20250248955: PHENYL ACRYLIC ACID COMPOUND, AND PREPARATION METHOD AND APPLICATION THEREOF
(E)-3-(3,4-dihydroxyphenyl)-N-[4-[2-(4-fluorophenyl)ethoxy]phenyl]prop-2-enamideIC50134000 nMUS-20250248955: PHENYL ACRYLIC ACID COMPOUND, AND PREPARATION METHOD AND APPLICATION THEREOF
(E)-3-[3,4-bis(methoxymethoxy)phenyl]-N-[4-(2-phenylethoxy)phenyl]prop-2-enamideIC50136000 nMUS-20250248955: PHENYL ACRYLIC ACID COMPOUND, AND PREPARATION METHOD AND APPLICATION THEREOF
(E)-3-[3,4-bis(methoxymethoxy)phenyl]-N-[4-[2-(4-fluorophenyl)ethoxy]phenyl]prop-2-enamideIC50152000 nMUS-20250248955: PHENYL ACRYLIC ACID COMPOUND, AND PREPARATION METHOD AND APPLICATION THEREOF
[2-[(5aS,6S,8S,9aR)-6-hydroxy-5a-methyl-1,10-dioxo-3-pyridin-3-yl-7,8,9,9a-tetrahydro-6H-pyrano[4,3-b]chromen-8-yl]-2-hydroxypropyl] 4-cyanobenzoateIC50154000 nMUS-10278962: Tricyclic analogues, preparation method and uses thereof
(E)-3-[3,4-bis(methoxymethoxy)phenyl]-N-[4-[2-(3,4-dimethoxyphenyl)ethoxy]phenyl]prop-2-enamideIC50172000 nMUS-20250248955: PHENYL ACRYLIC ACID COMPOUND, AND PREPARATION METHOD AND APPLICATION THEREOF
(E)-3-[3,4-bis(methoxymethoxy)phenyl]-N-[4-[2-(4-hydroxyphenyl)ethoxy]phenyl]prop-2-enamideIC50312000 nMUS-20250248955: PHENYL ACRYLIC ACID COMPOUND, AND PREPARATION METHOD AND APPLICATION THEREOF

ChEMBL bioactivities

353 potent at pChembl≥5 of 480 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChemblTypeValueUnitMolecule
8.52IC503nMCHEMBL4281138
8.49IC503.2nMCHEMBL3936899
8.44IC503.6nMCHEMBL3899908
8.38IC504.2nMCHEMBL3894947
8.15IC507nMCHEMBL4247249
8.05IC509nMCHEMBL4282905
8.05IC509nMNEVANIMIBE
8.00IC5010nMCHEMBL284596
7.99IC5010.3nMCHEMBL3905226
7.70IC5020nMCHEMBL449307
7.60IC5025nMAVASIMIBE
7.58IC5026nMCHEMBL4288347
7.51IC5031nMCHEMBL454397
7.50IC5032nMCHEMBL2397474
7.50IC5032nMCHEMBL449832
7.50IC5032nMCHEMBL453491
7.46IC5035nMCHEMBL459999
7.46IC5035nMCHEMBL33780
7.46IC5035nMCHEMBL304267
7.44IC5036nMCHEMBL304267
7.43IC5037nMCHEMBL500498
7.41IC5039nMEFLUCIMIBE
7.40IC5040nMCHEMBL297271
7.40IC5040nMCHEMBL33780
7.40IC5040nMCHEMBL449977
7.40IC5040nMCHEMBL505016
7.37IC5043nMCHEMBL501429
7.37IC5043nMCHEMBL33780
7.37IC5043nMCHEMBL304267
7.33IC5047nMCHEMBL510453
7.32IC5048nMCHEMBL503766
7.32IC5048nMCHEMBL442567
7.31IC5049nMCHEMBL447674
7.30IC5050nMCHEMBL284378
7.30IC5050nMCHEMBL34219
7.28IC5053nMCHEMBL33780
7.24IC5058nMCHEMBL25532
7.22IC5060nMCHEMBL5284960
7.22IC5060nMCHEMBL33054
7.22IC5060nMCHEMBL285429
7.21IC5062nMCHEMBL33780
7.20IC5063nMCHEMBL40685
7.17IC5068nMCHEMBL509834
7.16IC5070nMCHEMBL5275490
7.16IC5069nMCHEMBL33780
7.16IC5070nMCHEMBL286611
7.16IC5070nMCHEMBL33229
7.12IC5075nMCHEMBL30860
7.12IC5075nMCHEMBL286434
7.11IC5077nMCHEMBL443151

PubChem BioAssay actives

316 with measured affinity, of 798 total; 50 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

CompoundAssayTypeValueUnit
2-[4-[2-(1,3-benzothiazol-2-ylsulfanyl)ethyl]piperazin-1-yl]-N-[6-methyl-2,4-bis(methylsulfanyl)-3-pyridinyl]acetamide1419341: Inhibition of ACAT in human J774A.1 cells assessed as reduction in esterified-cholesterol accumulation after 18 hrs in presence of 25-hydroxycholesterol by cholesterol E-test analysisic500.0030uM
9-(1,3-benzoxazol-2-ylsulfanyl)-N-[2,6-di(propan-2-yl)phenyl]nonanamide1419341: Inhibition of ACAT in human J774A.1 cells assessed as reduction in esterified-cholesterol accumulation after 18 hrs in presence of 25-hydroxycholesterol by cholesterol E-test analysisic500.0070uM
1-[[1-[4-(dimethylamino)phenyl]cyclopentyl]methyl]-3-[2,6-di(propan-2-yl)phenyl]urea1940207: Inhibition of human SOAT1 expressed in mouse AC29 cellsic500.0090uM
2-[4-[2-(1,3-benzoxazol-2-ylsulfanyl)ethyl]piperazin-1-yl]-N-[6-methyl-2,4-bis(methylsulfanyl)-3-pyridinyl]acetamide1419341: Inhibition of ACAT in human J774A.1 cells assessed as reduction in esterified-cholesterol accumulation after 18 hrs in presence of 25-hydroxycholesterol by cholesterol E-test analysisic500.0090uM
1-[4-[2-(4,5-diphenyl-1H-imidazol-2-yl)-5-methyl-1,3-dioxan-5-yl]butyl]-4-(4-methoxyphenyl)piperazine31529: Inhibitory concentration was evaluated as concentration required to inhibit 50% of the Acyl coenzyme A:cholesterol acyltransferase 1 activity obtained from human THP-1 macrophage enzyme.ic500.0100uM
(3R,6R,9S,13S)-9-benzhydryl-3-[(2S)-butan-2-yl]-13-[(2S)-hexan-2-yl]-6-methyl-1-oxa-4,7,10-triazacyclotridecane-2,5,8,11-tetrone638437: Inhibition of ACAT1- mediated cholesteryl ester synthesis in macrophagesic500.0200uM
[2,6-di(propan-2-yl)phenyl] N-[2-[2,4,6-tri(propan-2-yl)phenyl]acetyl]sulfamate1396730: Inhibition of ACAT1 in human monocytes-derived macrophages reduction in cholesteryl oleate formation preincubated for 2 hrs followed by [14C]-oleic acid/sodium oleate addition measured after 2 hrs in absence of albumin by TLC assayic500.0250uM
2-[4-[2-(1H-benzimidazol-2-ylsulfanyl)ethyl]piperazin-1-yl]-N-[6-methyl-2,4-bis(methylsulfanyl)-3-pyridinyl]acetamide;hydrochloride1419341: Inhibition of ACAT in human J774A.1 cells assessed as reduction in esterified-cholesterol accumulation after 18 hrs in presence of 25-hydroxycholesterol by cholesterol E-test analysisic500.0260uM
1-[4-amino-2,6-di(propan-2-yl)phenyl]-3-[1-butyl-4-[3-(3-hydroxypropoxy)phenyl]-2-oxo-1,8-naphthyridin-3-yl]urea;hydrate;hydrochloride392882: Inhibition of ACAT in human HepG2 cellsic500.0310uM
[(1S,2S)-2-[[2,2-dimethylpropyl(nonyl)carbamoyl]amino]cyclohexyl] 3-[[(4R)-2,2,5,5-tetramethyl-1,3-dioxane-4-carbonyl]amino]propanoate754945: Inhibition of macrophage ACAT (unknown origin)ic500.0320uM
1-[4-amino-2,6-di(propan-2-yl)phenyl]-3-[[1-(2-methoxyphenyl)-4-[3-(trifluoromethyl)phenyl]piperidin-4-yl]methyl]urea;dihydrochloride392882: Inhibition of ACAT in human HepG2 cellsic500.0320uM
1-[4-amino-2,6-di(propan-2-yl)phenyl]-3-[[1-(2-butoxyphenyl)-4-(3-methoxyphenyl)piperidin-4-yl]methyl]urea;dihydrochloride392882: Inhibition of ACAT in human HepG2 cellsic500.0320uM
(5E,8E,11E,14E,17E,20E)-N-[2,6-di(propan-2-yl)phenyl]docosa-5,8,11,14,17,20-hexaenamide30885: Compound was tested for inhibitory activity against ACAT from U937 microsome in humanic500.0350uM
1-[2,6-di(propan-2-yl)phenyl]-3-[[4-(3-methoxyphenyl)-1-phenylpiperidin-4-yl]methyl]urea392882: Inhibition of ACAT in human HepG2 cellsic500.0350uM
1-[4-amino-2,6-di(propan-2-yl)phenyl]-3-[[1-(2-methoxyphenyl)-4-(3-methoxyphenyl)piperidin-4-yl]methyl]urea;dihydrochloride392882: Inhibition of ACAT in human HepG2 cellsic500.0370uM
(3R,6S,9S,13S)-9-benzhydryl-3-[(2S)-butan-2-yl]-13-[(2S)-hexan-2-yl]-6-methyl-1-oxa-4,7,10-triazacyclotridecane-2,5,8,11-tetrone638437: Inhibition of ACAT1- mediated cholesteryl ester synthesis in macrophagesic500.0400uM
1-[4-amino-2,6-di(propan-2-yl)phenyl]-3-[[4-(3-methoxyphenyl)-1-phenylpiperidin-4-yl]methyl]urea;dihydrochloride392882: Inhibition of ACAT in human HepG2 cellsic500.0400uM
1-[5-[(4,5-diphenyl-1H-imidazol-2-yl)sulfanyl]pentyl]-3,5-dimethylpyrazole1943488: Inhibition of ACAT in human THP-1ic500.0400uM
N-[(1S,2R)-2-(4-hydroxyphenyl)-2,3-dihydro-1H-inden-1-yl]-2,2-diphenylacetamide31522: Inhibition of Acyl coenzyme A:cholesterol acyltransferase (ACAT)ic500.0400uM
1-[4-amino-2,6-di(propan-2-yl)phenyl]-3-[[1,4-bis(2-methoxyphenyl)piperidin-4-yl]methyl]urea;dihydrochloride392882: Inhibition of ACAT in human HepG2 cellsic500.0430uM
1-[2,6-di(propan-2-yl)phenyl]-3-[[1-(2-methoxyphenyl)-4-(3-methoxyphenyl)piperidin-4-yl]methyl]urea392882: Inhibition of ACAT in human HepG2 cellsic500.0470uM
1-[4-amino-2,6-di(propan-2-yl)phenyl]-3-[[1,4-bis(3-methoxyphenyl)piperidin-4-yl]methyl]urea;dihydrochloride392882: Inhibition of ACAT in human HepG2 cellsic500.0480uM
1-[4-amino-2,6-di(propan-2-yl)phenyl]-3-[[4-(3-methoxyphenyl)-1-[2-(2,2,2-trifluoroethoxy)phenyl]piperidin-4-yl]methyl]urea;dihydrochloride392882: Inhibition of ACAT in human HepG2 cellsic500.0480uM
1-[4-amino-2,6-di(propan-2-yl)phenyl]-3-[[1-(2-methoxyphenyl)-4-(4-methoxyphenyl)piperidin-4-yl]methyl]urea;dihydrochloride392882: Inhibition of ACAT in human HepG2 cellsic500.0490uM
2-[4-[4-[2-(4,5-diphenyl-1H-imidazol-2-yl)-5-methyl-1,3-dioxan-5-yl]butyl]piperazin-1-yl]-1,3-thiazole31529: Inhibitory concentration was evaluated as concentration required to inhibit 50% of the Acyl coenzyme A:cholesterol acyltransferase 1 activity obtained from human THP-1 macrophage enzyme.ic500.0500uM
N-[4-[2-(4,5-diphenyl-1H-imidazol-2-yl)-5-methyl-1,3-dioxan-5-yl]butyl]-N-methylpyridin-2-amine31529: Inhibitory concentration was evaluated as concentration required to inhibit 50% of the Acyl coenzyme A:cholesterol acyltransferase 1 activity obtained from human THP-1 macrophage enzyme.ic500.0500uM
[(2S,5S,6R,9S,10S,18R)-5,9-diacetyloxy-18-hydroxy-2,6,10-trimethyl-16-oxo-14-pyridin-3-yl-11,15-dioxatetracyclo[8.8.0.02,7.012,17]octadeca-12(17),13-dien-6-yl]methyl acetate31814: Inhibitory activity against acyl-CoA:cholesterol acyltransferase (ACAT)ic500.0580uM
1-[5-[2-(4,5-diphenyl-1H-imidazol-2-yl)-5-methyl-1,3-dioxan-5-yl]pentyl]-3,5-dimethylpyrazole31532: Inhibitory concentration was evaluated as concentration required to inhibit 50% of the activity of human Acyl coenzyme A:cholesterol acyltransferase 1ic500.0600uM
2-[4-[2-(4,5-diphenyl-1H-imidazol-2-yl)-5-methyl-1,3-dioxan-5-yl]butyl]-3,4-dihydro-1H-isoquinoline31529: Inhibitory concentration was evaluated as concentration required to inhibit 50% of the Acyl coenzyme A:cholesterol acyltransferase 1 activity obtained from human THP-1 macrophage enzyme.ic500.0600uM
1-[3-[2-(4,5-diphenyl-1H-imidazol-2-yl)-1,3-dioxan-5-yl]propyl]-3,5-dimethylpyrazole1943488: Inhibition of ACAT in human THP-1ic500.0600uM
1-[4-amino-2,6-di(propan-2-yl)phenyl]-3-[[4-(3-methoxyphenyl)-1-[2-(trifluoromethoxy)phenyl]piperidin-4-yl]methyl]urea;dihydrochloride392882: Inhibition of ACAT in human HepG2 cellsic500.0680uM
4-[4-[2-(4,5-diphenyl-1H-imidazol-2-yl)-5-methyl-1,3-dioxan-5-yl]butyl]thiomorpholine31529: Inhibitory concentration was evaluated as concentration required to inhibit 50% of the Acyl coenzyme A:cholesterol acyltransferase 1 activity obtained from human THP-1 macrophage enzyme.ic500.0700uM
1-[4-[2-(4,5-diphenyl-1H-imidazol-2-yl)-5-methyl-1,3-dioxan-5-yl]butyl]-4-phenylpiperazine31532: Inhibitory concentration was evaluated as concentration required to inhibit 50% of the activity of human Acyl coenzyme A:cholesterol acyltransferase 1ic500.0700uM
4-[4-[2-(4,5-diphenyl-1H-imidazol-2-yl)-1,3-dioxan-5-yl]butyl]thiomorpholine1943488: Inhibition of ACAT in human THP-1ic500.0700uM
2-[4-[4-[2-(4,5-diphenyl-1H-imidazol-2-yl)-5-methyl-1,3-dioxan-5-yl]butyl]piperazin-1-yl]pyrimidine31529: Inhibitory concentration was evaluated as concentration required to inhibit 50% of the Acyl coenzyme A:cholesterol acyltransferase 1 activity obtained from human THP-1 macrophage enzyme.ic500.0750uM
1-[4-[2-(4,5-diphenyl-1H-imidazol-2-yl)-5-methyl-1,3-dioxan-5-yl]butyl]-3,5-dimethylpyrazole31528: Inhibitory concentration was evaluated as concentration required to inhibit 50% of the Acyl coenzyme A:cholesterol acyltransferase 1 activity obtained from human THP-1 macrophage enzymeic500.0750uM
1-[4-amino-2,6-di(propan-2-yl)phenyl]-3-[[4-(3-fluorophenyl)-1-(2-methoxyphenyl)piperidin-4-yl]methyl]urea;dihydrochloride392882: Inhibition of ACAT in human HepG2 cellsic500.0770uM
ethyl 6-(3-benzyl-1,2,4-oxadiazol-5-yl)-2-morpholin-4-yl-4-phenyl-7-propylpyrrolo[1,2-b]pyridazine-5-carboxylate517640: Inhibition of human full-length flag-tagged ACAT1 expressed in baculovirus infected insect cells after 10 minsic500.0770uM
1-[3-amino-2,6-di(propan-2-yl)phenyl]-3-[[1-(2-methoxyphenyl)-4-(3-methoxyphenyl)piperidin-4-yl]methyl]urea;dihydrochloride392882: Inhibition of ACAT in human HepG2 cellsic500.0810uM
1-[4-amino-2,6-di(propan-2-yl)phenyl]-3-[[1-(2-methoxyphenyl)-4-phenylpiperidin-4-yl]methyl]urea;dihydrochloride392882: Inhibition of ACAT in human HepG2 cellsic500.0820uM
ethyl 6-(3-tert-butyl-1,2,4-oxadiazol-5-yl)-2-morpholin-4-yl-4-phenyl-7-propylpyrrolo[1,2-b]pyridazine-5-carboxylate517640: Inhibition of human full-length flag-tagged ACAT1 expressed in baculovirus infected insect cells after 10 minsic500.0830uM
N-[2,6-di(propan-2-yl)phenyl]tetradecanethioamide30884: Compound was tested for inhibitory activity against ACAT from HepG2 microsome in humanic500.0890uM
1-benzyl-4-[4-[2-(4,5-diphenyl-1H-imidazol-2-yl)-5-methyl-1,3-dioxan-5-yl]butyl]piperazine31532: Inhibitory concentration was evaluated as concentration required to inhibit 50% of the activity of human Acyl coenzyme A:cholesterol acyltransferase 1ic500.0900uM
N-[6-methyl-2,4-bis(methylsulfanyl)-3-pyridinyl]-2-[4-[2-([1,3]oxazolo[4,5-b]pyridin-2-ylsulfanyl)ethyl]piperazin-1-yl]acetamide1419341: Inhibition of ACAT in human J774A.1 cells assessed as reduction in esterified-cholesterol accumulation after 18 hrs in presence of 25-hydroxycholesterol by cholesterol E-test analysisic500.1000uM
diethyl 2-morpholin-4-yl-4-phenyl-7-(4-phenylmethoxyphenyl)pyrrolo[1,2-b]pyridazine-5,6-dicarboxylate517640: Inhibition of human full-length flag-tagged ACAT1 expressed in baculovirus infected insect cells after 10 minsic500.1000uM
1-[4-[2-(4,5-diphenyl-1H-imidazol-2-yl)-5-methyl-1,3-dioxan-5-yl]butyl]-4-pyridin-2-ylpiperazine31529: Inhibitory concentration was evaluated as concentration required to inhibit 50% of the Acyl coenzyme A:cholesterol acyltransferase 1 activity obtained from human THP-1 macrophage enzyme.ic500.1050uM
2-[5-methyl-5-[4-(4-phenylpyrazol-1-yl)butyl]-1,3-dioxan-2-yl]-4,5-diphenyl-1H-imidazole31532: Inhibitory concentration was evaluated as concentration required to inhibit 50% of the activity of human Acyl coenzyme A:cholesterol acyltransferase 1ic500.1100uM
(3R,6S,9S,13S)-9-benzhydryl-3-[(2S)-butan-2-yl]-13-[(2S)-hexan-2-yl]-6-(hydroxymethyl)-1-oxa-4,7,10-triazacyclotridecane-2,5,8,11-tetrone638437: Inhibition of ACAT1- mediated cholesteryl ester synthesis in macrophagesic500.1100uM
[(1S,2S,5S,6R,7R,9S,10S,18R)-5-acetyloxy-6-(acetyloxymethyl)-18-hydroxy-2,6,10-trimethyl-16-oxo-14-pyridin-3-yl-11,15-dioxatetracyclo[8.8.0.02,7.012,17]octadeca-12(17),13-dien-9-yl] 3-methylsulfanylbenzoate732690: Inhibition of ACAT1 (unknown origin) expressed in CHO cellsic500.1100uM
(1R,2S,3R,11R,13S,16S,17S,19R,20R,22S,25S,27S)-9-[(3,3-dimethyloxiran-2-yl)methyl]-3-methoxy-1,2,24,24-tetramethyl-22-(2-methylprop-1-enyl)-18,21,23,26-tetraoxa-4-azaoctacyclo[14.13.0.02,13.03,11.05,10.017,19.017,27.020,25]nonacosa-5,7,9-triene-11,16-diol1940244: Inhibition of SOAT1 (unknown origin)ic500.1200uM

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, increases expression, affects expression6
Air Pollutantsdecreases expression, affects cotreatment, increases abundance, increases oxidation3
entinostatincreases expression, affects cotreatment2
Phenylmercuric Acetateaffects cotreatment, decreases expression2
Cyclosporinedecreases expression, increases methylation2
Particulate Matterdecreases expression, increases abundance, increases expression2
FR900359decreases phosphorylation1
dicrotophosdecreases expression1
methylmercuric chloridedecreases expression1
alpha-pineneaffects cotreatment, increases oxidation, increases abundance1
sodium arsenateincreases abundance, increases expression1
sodium arseniteincreases expression1
methacrylaldehydeaffects cotreatment, increases oxidation, increases abundance1
S-1,2-dichlorovinyl-N-acetylcysteineaffects expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression, decreases expression1
gypenosidedecreases expression1
ICG 001decreases expression1
abrinedecreases expression1
dorsomorphinaffects cotreatment, increases expression, decreases expression1
Vorinostatincreases expression1
Acetaminophenincreases expression1
Acroleinaffects cotreatment, increases oxidation, increases abundance1
Air Pollutants, Occupationaldecreases expression1
Arsenicincreases abundance, increases expression1
Benzo(a)pyreneincreases methylation1
Biological Factorsdecreases expression1
Cadmiumincreases abundance, increases expression1
Cisplatinincreases expression1
Cyclophosphamideaffects response to substance1
Fluorouracilaffects response to substance1

ChEMBL screening assays

136 unique, capped per target: 127 binding, 8 functional, 1 admet

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL1022201BindingInhibition of human ACAT1 at 10 uM by liquid scintillographyDiscovery of a potent, selective, and orally efficacious pyrimidinooxazinyl bicyclooctaneacetic acid diacylglycerol acyltransferase-1 inhibitor. — J Med Chem
CHEMBL4392492ADMETInhibition of human ACAT1Accelerating the discovery of DGAT1 inhibitors through the application of parallel medicinal chemistry (PMC). — Bioorg Med Chem Lett
CHEMBL638497FunctionalEffect on Cholesterol O-Acyltransferase (ACAT)-catalyzed cholesteryl oleate formation (COF) in cultured monkey arterial smooth muscle cells in experiment 2 in the presence ofCationized Low-density lipoproteins +3 uMPotential antiatherosclerotic agents. 5. An acyl-CoA:cholesterol O-acyltransferase inhibitor with hypocholesterolemic activity. — J Med Chem

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

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

CellosaurusNameCategorySex
CVCL_B2H0Abcam HeLa SOAT1 KOCancer cell lineFemale
CVCL_E1K4HyCyte HCT 116 KO-hSOAT1Cancer cell lineMale
CVCL_TP94HAP1 SOAT1 (-) 1Cancer cell lineMale
CVCL_TP95HAP1 SOAT1 (-) 2Cancer cell lineMale
CVCL_TP96HAP1 SOAT1 (-) 3Cancer cell lineMale

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT01052623PHASE4UNKNOWNStatus of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT)
NCT02733679PHASE4COMPLETEDResponse of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone
NCT00417066PHASE4COMPLETEDFlexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders
NCT00732693PHASE4COMPLETEDEvaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure
NCT00837616PHASE4COMPLETEDEstrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01853501PHASE4UNKNOWNEffects of ADSC Therapy in Women With POF
NCT02783937PHASE4COMPLETEDFilgrastim for Premature Ovarian Insufficiency
NCT03535480PHASE4UNKNOWNAutologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure
NCT00656409PHASE3COMPLETEDConjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT)
NCT03563053PHASE3TERMINATEDExtension Treatment Using EryDex System in Patients With AT Who Participated in the ATTeST-IEDAT-02-2015 Study
NCT06193200PHASE3COMPLETEDEvaluate the Neurological Effects of EryDex on Subjects With A-T
NCT06664853PHASE3TERMINATEDOpen-Label Extension of EryDex Study IEDAT-04-2022
NCT06673056PHASE3ACTIVE_NOT_RECRUITINGA Pivotal Study of N-Acetyl-L-Leucine on Ataxia-Telangiectasia (A-T)
NCT00140998PHASE3COMPLETEDEstrogen Treatment (Oral vs. Patches) in Turner Syndrome
NCT03759678PHASE2TERMINATEDN-Acetyl-L-Leucine for Ataxia-Telangiectasia (A-T)
NCT03962114PHASE2COMPLETEDEffects of Vitamin B3 in Patients With Ataxia Telangiectasia
NCT04513002PHASE2COMPLETEDAtaxia-telangiectasia: Treating Mitochondrial Dysfunction With a Novel Form of Anaplerosis
NCT04870866PHASE2ACTIVE_NOT_RECRUITINGNAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia
NCT04887311PHASE2UNKNOWNMBM-01 (Tempol) for the Treatment of Ataxia Telangiectasia
NCT00001951PHASE2COMPLETEDHormone Replacement in Young Women With Premature Ovarian Failure
NCT00370019PHASE2WITHDRAWNEffects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure
NCT00429494PHASE2COMPLETEDGnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients
NCT03816852PHASE2SUSPENDEDThe Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency
NCT04536467PHASE2UNKNOWNPrevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients
NCT06117982PHASE2COMPLETEDThe Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency
NCT05531890PHASE1UNKNOWNComparative Bioavailability of Betamethasone Oral Solution Metered Spray (GTX-102) in Healthy Subjects
NCT02912104PHASE1COMPLETEDA Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure
NCT03178695PHASE1COMPLETEDInovium Ovarian Rejuvenation Trials
NCT04815213PHASE1ACTIVE_NOT_RECRUITINGThe Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans
NCT05138367PHASE1COMPLETEDEffects of UCA-PSCs in Women With POF
NCT06132542PHASE1UNKNOWNAutologous ADMSC Transplantation in Patients With POI
NCT03655223Not specifiedENROLLING_BY_INVITATIONEarly Check: Expanded Screening in Newborns
NCT05687474Not specifiedCOMPLETEDBaby Detect : Genomic Newborn Screening
NCT05910151Not specifiedUNKNOWNSelective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan
NCT07215416PHASE1/PHASE2RECRUITINGSafety and Efficacy of Mutation-targeted Precision Genetic Therapy for Ataxia-Telangiectasia (A-T)
NCT00640003EARLY_PHASE1COMPLETEDBaclofen Treatment of Ataxia Telangiectasia
NCT00187057Not specifiedCOMPLETEDStudy for Treatment of Cancer in Children With Ataxia-telangiectasia
NCT00951886Not specifiedUNKNOWNThe Validity of Forced Expiratory Maneuvers in Ataxia Telangiectasia Studied Longitudinally
NCT01075438Not specifiedUNKNOWNImmunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia Patients
NCT01793168Not specifiedRECRUITINGRare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford