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ACACA

gene
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Also known as ACC1ACC-alphaACCAACCalphaACACalphaAcac1hACC1

Summary

ACACA (acetyl-CoA carboxylase alpha, HGNC:84) is a protein-coding gene on chromosome 17q12, encoding Acetyl-CoA carboxylase 1 (Q13085). Cytosolic enzyme that catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the first and rate-limiting step of de novo fatty acid biosynthesis. It is a selective cancer dependency (DepMap: 26.6% of cell lines).

Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5’ sequence and encoding distinct isoforms have been found for this gene.

Source: NCBI Gene 31 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): acetyl-coa carboxylase deficiency (Moderate, GenCC)
  • GWAS associations: 2
  • Clinical variants (ClinVar): 480 total — 4 pathogenic (top 7% of genes corpus-wide)
  • Regional missense constraint (gnomAD): 7 of 16 regions constrained (≈19% of expected missense variation)
  • GTEx eGene: eQTL in 20 tissues, sQTL in 3 (q < 0.05)
  • Phenotypes (HPO): 7
  • Drug target: yes — 4 via a complex or family; 4 molecules with ChEMBL bioactivity
  • Cancer dependency (DepMap): dependent in 26.6% of screened cell lines
  • Constraint (gnomAD): pLI 1.00 (loss-of-function intolerant), LOEUF 0.37 (moderately constrained)
  • MANE Select transcript: NM_198834
  • Interaction hub: 2,832 STRING partners (top 3% of genes corpus-wide)
  • Notable: 480 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:84
Approved symbolACACA
Nameacetyl-CoA carboxylase alpha
Location17q12
Locus typegene with protein product
StatusApproved
AliasesACC1, ACC-alpha, ACCA, ACCalpha, ACACalpha, Acac1, hACC1
Ensembl geneENSG00000278540
Ensembl biotypeprotein_coding
OMIM200350
Entrez31

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 12 protein_coding, 5 retained_intron, 4 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay, 1 non_stop_decay

MANE Select: ENST00000616317

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 8, TSL 2: 3, TSL 3: 5, TSL 4: 3, TSL 5: 4

ENST00000616317, ENST00000612007, ENST00000612120, ENST00000612895, ENST00000612926, ENST00000613146, ENST00000613776, ENST00000614333, ENST00000614428, ENST00000614438, ENST00000614450, ENST00000614482, ENST00000614789, ENST00000615229, ENST00000616352, ENST00000617548, ENST00000617649, ENST00000618053, ENST00000618351, ENST00000618575, ENST00000619245, ENST00000619546, ENST00000621960, ENST00001046176, ENST00001143661

RefSeq mRNA: 5 — MANE Select: NM_198834 NM_198834, NM_198836, NM_198837, NM_198838, NM_198839

CCDS: CCDS11317, CCDS11318, CCDS42302, CCDS42303

Canonical transcript exons

ENST00000616317 — 56 exons

ExonStartEnd
ENSE000037118093723497537235099
ENSE000037128723712135537121490
ENSE000037134653712569837125794
ENSE000037134723724047637240564
ENSE000037159633715568337155780
ENSE000037170273725770337257866
ENSE000037181073722499237225105
ENSE000037186863708893837089074
ENSE000037198563724801137248156
ENSE000037207253728326737283405
ENSE000037230693711153137111643
ENSE000037261473724337137243559
ENSE000037268923726368537263894
ENSE000037283693718120137181356
ENSE000037292923722633937226452
ENSE000037301083720013937200183
ENSE000037303373719209037192305
ENSE000037309463722172437221842
ENSE000037317063713007537130218
ENSE000037319073720678337206879
ENSE000037319663716178137162050
ENSE000037321493727703337277114
ENSE000037322133725821237258373
ENSE000037324333722351237223601
ENSE000037324403727595137276049
ENSE000037326063721046737210490
ENSE000037328903717926037179406
ENSE000037342803725288637253036
ENSE000037348143719112037191275
ENSE000037354843719337437193415
ENSE000037366903725200537252108
ENSE000037369883724682637246976
ENSE000037379823727419337274299
ENSE000037387533712936537129485
ENSE000037406753708499237087439
ENSE000037409873724508037245214
ENSE000037411693724195337242053
ENSE000037415193720765737207800
ENSE000037416813720042737200483
ENSE000037428483709699637097166
ENSE000037430393727075137270861
ENSE000037431643724859337248674
ENSE000037435313712253137122627
ENSE000037443863714986437149974
ENSE000037449963709783037097984
ENSE000037456783711308837113265
ENSE000037461953720576537205872
ENSE000037481663718827737188480
ENSE000037484053715130137151421
ENSE000037486053733017337330425
ENSE000037494393725936037259530
ENSE000037501043727789637278005
ENSE000037507953733980437339850
ENSE000037521593724458837244734
ENSE000037864383728483837284970
ENSE000038437303740626237406836

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 96.24.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.5962 / max 196.6445, expressed in 1809 samples.

Highest expression (Bgee): cortical plate, adrenal tissue, ganglionic eminence, corpus callosum, ventricular zone.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ACACA is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 20 tissues and its splicing (sQTL) in 3 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 23 significant tissue × QTL associations:

TissueQTLq-valueSlopeLead variant
Cells Cultured fibroblastssqtl2.0e-11-0.5017:37333831:T:G
Nerve Tibialeqtl2.2e-06+0.1617:37232521:A:G
Cells Cultured fibroblastseqtl3.9e-06+0.1217:37399875:T:A
Testissqtl9.3e-06-0.6717:37084509:ACT:A
Brain Cortexeqtl6.5e-05+0.2017:37491071:A:C
Skin Not Sun Exposed Suprapubiceqtl8.1e-05+0.1317:37232521:A:G
Artery Aortaeqtl8.8e-05+0.1717:37383917:C:T
Skin Sun Exposed Lower legeqtl1.2e-04+0.1117:37217510:T:C
Esophagus Gastroesophageal Junctioneqtl4.1e-03+0.1317:37335407:G:A
Artery Tibialeqtl4.2e-03+0.1317:38375601:C:G
Esophagus Mucosaeqtl7.3e-03+0.1217:36806337:C:A
Pancreaseqtl8.7e-03+0.1917:37374913:C:G
Brain Amygdalaeqtl9.3e-03+0.2217:37513297:TA:T
Adipose Visceral Omentumeqtl9.6e-03+0.1217:37474926:G:A
Muscle Skeletalsqtl1.7e-02-0.9517:38321310:C:T
Stomacheqtl2.8e-02+0.6617:36497489:T:A
Brain Anterior cingulate cortex BA24eqtl3.0e-02+0.1517:37515526:T:C
Brain Spinal cord cervical c-1eqtl3.2e-02+1.0917:36521549:T:C
Brain Frontal Cortex BA9eqtl3.3e-02+0.6317:37197986:G:A
Brain Putamen basal gangliaeqtl3.5e-02+0.7417:38279120:G:A

FANTOM5 promoters

5 alternative TSS:

Promoter IDTPM avgSamples expressed
16546621.11741784
1654702.97201413
1654671.7630873
1654690.7297455
1654680.01423

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
cortical plateUBERON:000534396.24gold quality
adrenal tissueUBERON:001830396.11gold quality
ganglionic eminenceUBERON:000402395.51gold quality
corpus callosumUBERON:000233695.35gold quality
ventricular zoneUBERON:000305395.23gold quality
superior frontal gyrusUBERON:000266193.19gold quality
right adrenal gland cortexUBERON:003582792.25gold quality
prefrontal cortexUBERON:000045192.15gold quality
right adrenal glandUBERON:000123392.00gold quality
frontal cortexUBERON:000187091.97gold quality
right frontal lobeUBERON:000281091.51gold quality
prostate glandUBERON:000236791.28gold quality
cerebral cortexUBERON:000095691.06gold quality
sural nerveUBERON:001548890.97gold quality
adrenal glandUBERON:000236990.96gold quality
dorsolateral prefrontal cortexUBERON:000983490.86gold quality
colonic epitheliumUBERON:000039790.83gold quality
anterior cingulate cortexUBERON:000983590.67gold quality
left adrenal glandUBERON:000123490.46gold quality
Brodmann (1909) area 9UBERON:001354090.33gold quality
primary visual cortexUBERON:000243690.29gold quality
left adrenal gland cortexUBERON:003582590.11gold quality
esophagus mucosaUBERON:000246989.96gold quality
C1 segment of cervical spinal cordUBERON:000646989.85gold quality
brainUBERON:000095589.73gold quality
right testisUBERON:000453489.65gold quality
temporal lobeUBERON:000187189.50gold quality
amygdalaUBERON:000187689.39gold quality
esophagusUBERON:000104389.28gold quality
hypothalamusUBERON:000189889.21gold quality
left testisUBERON:000453389.14gold quality
nucleus accumbensUBERON:000188289.13gold quality
tonsilUBERON:000237289.07gold quality
lower esophagus mucosaUBERON:003583488.99gold quality
Ammon’s hornUBERON:000195488.85gold quality
islet of LangerhansUBERON:000000688.79gold quality
pituitary glandUBERON:000000788.79gold quality
testisUBERON:000047388.76gold quality
putamenUBERON:000187488.58gold quality
caudate nucleusUBERON:000187388.55gold quality
right hemisphere of cerebellumUBERON:001489088.51gold quality
lower esophagusUBERON:001347388.47gold quality
lower esophagus muscularis layerUBERON:003583388.44gold quality
adenohypophysisUBERON:000219688.24gold quality
liverUBERON:000210788.13gold quality
cerebellumUBERON:000203788.12gold quality
cerebellar hemisphereUBERON:000224588.08gold quality
urinary bladderUBERON:000125588.07gold quality
substantia nigraUBERON:000203888.06gold quality
cerebellar cortexUBERON:000212988.06gold quality
esophagogastric junction muscularis propriaUBERON:003584187.93gold quality
bone marrow cellCL:000209287.87gold quality
stromal cell of endometriumCL:000225587.49gold quality
right lobe of liverUBERON:000111487.27gold quality
olfactory segment of nasal mucosaUBERON:000538687.12gold quality
skeletal muscle tissueUBERON:000113487.08gold quality
calcaneal tendonUBERON:000370187.01gold quality
endometriumUBERON:000129586.54gold quality
lungUBERON:000204886.53gold quality
thoracic mammary glandUBERON:000520086.01gold quality
vaginaUBERON:000099685.99gold quality
mucosa of transverse colonUBERON:000499185.99gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047385.98gold quality
muscle layer of sigmoid colonUBERON:003580585.75gold quality
upper lobe of left lungUBERON:000895285.74gold quality
fallopian tubeUBERON:000388985.72gold quality
skin of abdomenUBERON:000141685.67gold quality
minor salivary glandUBERON:000183085.64gold quality
saliva-secreting glandUBERON:000104485.54gold quality
pancreasUBERON:000126485.49gold quality
right lungUBERON:000216785.45gold quality
multicellular organismUBERON:000046885.43gold quality
zone of skinUBERON:000001485.35gold quality
muscle tissueUBERON:000238585.34gold quality
fundus of stomachUBERON:000116085.19gold quality
stomachUBERON:000094585.13gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099185.09gold quality
gastrocnemiusUBERON:000138885.00gold quality
skin of legUBERON:000151184.98gold quality
bone marrowUBERON:000237184.97gold quality
colonUBERON:000115584.84gold quality
left uterine tubeUBERON:000130384.72gold quality
right uterine tubeUBERON:000130284.69gold quality
muscle of legUBERON:000138384.64gold quality
uterine cervixUBERON:000000284.49gold quality
myometriumUBERON:000129684.49gold quality
right ovaryUBERON:000211884.44gold quality
subcutaneous adipose tissueUBERON:000219084.41gold quality
adipose tissueUBERON:000101384.38gold quality
ectocervixUBERON:001224984.30gold quality
right coronary arteryUBERON:000162584.21gold quality
smooth muscle tissueUBERON:000113584.19gold quality
body of uterusUBERON:000985384.19gold quality
omental fat padUBERON:001041484.18gold quality
transverse colonUBERON:000115784.17gold quality
body of stomachUBERON:000116184.09gold quality
left coronary arteryUBERON:000162684.09gold quality
intestineUBERON:000016084.03gold quality
popliteal arteryUBERON:000225084.02gold quality
tibial arteryUBERON:000761084.00gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes10.54

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cellAxisnTPMProtein (IHC)
Spinal cordtissue44.1
Cerebral cortextissue40.6low
Somatosensory cortextissue40.6
Prefrontal cortextissue39.8
Motor cortextissue39.1
Insular cortextissue38.7
Substantia nigratissue37.8
Medulla oblongatatissue37.7
Thalamustissue37.7
Midbraintissue37.6
Ponstissue36.7
Retrosplenial and cingulate cortextissue36.7
Hippocampal formationtissue36.6
Entorhinal cortextissue36.6
Occipital cortextissue36.3
Temporal cortextissue35.8
Retrosplenial cortextissue35.5
Hypothalamustissue34.2
Corpus callosumtissue34.1
Postcentral gyrustissue32.4
Periaqueductal graytissue32.3
Superior colliculitissue31.4
Ventral forebraintissue30.4
Amygdalatissue30.3
Septumtissue29.7
Frontal cortextissue29.4
Choroid plexustissue27.7
Putamentissue27.6
Cerebellumtissue27.3medium
Basal gangliatissue27.1low
Locus coeruleustissue27.0
Caudate putamentissue25.2
Breasttissue20.9medium
Hippocampustissue20.9low
Olfactory bulbtissue19.9
Nucleus accumbenstissue19.8
Pituitary glandtissue18.4
Adipose tissuetissue14.0low
Prostatetissue14.0medium
Vaginatissue13.9medium
Epididymistissue13.0high
Esophagustissue10.9high
Parathyroid glandtissue10.2high
Seminal vesicletissue9.0medium
Lungtissue8.9high
Smooth muscletissue7.5medium
Retinatissue7.4
Testistissue7.0high
Livertissue7.0high
Skin 1tissue6.9medium
Urinary bladdertissue6.8high
Rectumtissue6.0high
Cervixtissue5.7medium
Salivary glandtissue5.7medium
Adrenal glandtissue5.7high
Colontissue5.4high
Endometrium 1tissue5.3medium
Tonsiltissue5.2low
Thyroid glandtissue5.1high
Ovarytissue4.9low

Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Ventral spinal cord (44.1), Dorsal spinal cord (37.0), Precentral gyrus (36.9), Subiculum (34.1), White matter (34.1).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR, CEBPA, CEBPB, CREB1, CREBZF, FOXO1, MLXIPL, NR1H3, NR1H4, NRF1, PPARD, SP1, SREBF1, STAT3, STAT5A, THRB, USF1, USF2

miRNA regulators (miRDB)

Targeting ACACA by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 77 miRNAs:

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-5193100.0067.261744
HSA-MIR-6758-5P100.0066.211470
HSA-MIR-6856-5P100.0065.471298
HSA-MIR-511-3P99.9968.851467
HSA-MIR-548AW99.9972.573559
HSA-MIR-27A-3P99.9872.132955
HSA-MIR-27B-3P99.9872.132955
HSA-MIR-998599.9872.112939
HSA-MIR-3065-5P99.9771.563281
HSA-MIR-6825-5P99.9669.813431
HSA-MIR-4725-3P99.9669.532520
HSA-MIR-6780B-5P99.9669.602562
HSA-MIR-185-3P99.9567.011743
HSA-MIR-130599.9171.433443
HSA-MIR-627-3P99.9071.423316
HSA-MIR-4731-5P99.8967.232537
HSA-MIR-427199.8868.322244
HSA-MIR-449299.8768.253611
HSA-MIR-4659A-3P99.8072.624248
HSA-MIR-4659B-3P99.8072.624248
HSA-MIR-92A-2-5P99.7567.012164
HSA-MIR-197699.7465.481127
HSA-MIR-182599.7268.111089
HSA-MIR-442299.7272.072908
HSA-MIR-128399.6972.423009
HSA-MIR-4666B99.6468.691282
HSA-MIR-182-3P99.5767.57825
HSA-MIR-6716-5P99.5668.621244
HSA-MIR-7844-5P99.5568.561428
HSA-MIR-7159-5P99.5372.122472

Functional genomics

gnomAD constraint: pLI 1, LOEUF 0.374, missense Z 10.2 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000616317 splits into 16 regions with different missense tolerance; 7 are missense-constrained (≈19% of the expected missense variation). Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)Missense obs / expo/eConstrained
17:37,087,319–37,188,390553 / 1043.60.53no
17:37,188,391–37,192,14335 / 131.80.27yes (p 3.4e-17)
17:37,192,144–37,210,476179 / 283.20.63no
17:37,210,477–37,221,7481 / 16.70.06yes (p 1.2e-04)
17:37,221,749–37,221,79115 / 18.80.80no
17:37,221,792–37,226,44642 / 147.50.28yes (p 3.7e-18)
17:37,226,447–37,252,899316 / 540.90.58no
17:37,252,900–37,258,25835 / 139.40.25yes (p 9.3e-19)
17:37,258,259–37,258,36837 / 49.90.74no
17:37,258,369–37,259,4253 / 29.10.10yes (p 1.3e-06)
17:37,259,426–37,274,21782 / 185.20.44no
17:37,274,218–37,275,99847 / 55.40.85no
17:37,275,999–37,277,98529 / 90.30.32yes (p 1.1e-10)
17:37,277,986–37,283,2900 / 18.00.00yes (p 2.3e-05)
17:37,283,291–37,284,92840 / 92.20.43no
17:37,284,929–37,406,299140 / 147.70.95no
DepMap (CRISPR cell-line fitness): dependent in 26.6% of screened cell lines.

Most-dependent cell lines (DepMap gene-effect, lower = stronger; ≤ −0.5 shown): CH-157MN (-1.449), P4E6 (-1.369), Evsa-T (-1.326), PA-TU-8988S (-1.321), MEL-HO (-1.301), NCI-H1993 (-1.291), DEL (-1.286), SF-172 (-1.275), DLD-1 (-1.27), HSC-5 (-1.246), SW 626 (-1.21), ACC-MESO-1 (-1.199), OUMS-23 (-1.16), U-937 (-1.143), IPC-298 (-1.143).

Literature-anchored findings (GeneRIF, showing 40)

  • The Stoned proteins may regulate sustainable neurotransmission in vivo by binding to Ca(2+)-bound Synaptotagmin-1 associated synaptic vesicles. (PMID:22701718)
  • folding of the T4 major capsid protein requires a gp31-dependent cis-folding mechanism likely inside an enlarged “Anfinsen cage” provided by GroEL and gp31 (PMID:15919824)
  • enlarged volume for folding is consistent with the size of the bacteriophage coat protein gp23, which is the major substrate of GroEL-gp31 chaperonin complex (PMID:16549073)
  • structures of gp23-chaperonin complexes, showing both the initial captured state and the final, close-to-native state with gp23 encapsulated in the folding chamber (PMID:19122642)
  • Human acetyl-CoA carboxylase 1 gene has three promoters and heterogeneity at the 5’-untranslated mRNA region (PMID:12810950)
  • Transcription of ACC-alpha from at least three promoters and the potential to generate ACC-alpha isozymes with differential susceptibilities to phosphorylation indicate that the regulation of fatty acid synthesis in human tissues is likely to be complex (PMID:14643797)
  • polymorphisms in acetyl-Coenzyme A carboxylase alpha is associated with breast cancer predisposition (PMID:15333468)
  • BRCA1 affects lipogenesis through binding to P-ACCA, suggesting a new mechanism by which BRCA1 may exert a tumor suppressor function (PMID:16326698)
  • the whole BRCA1 protein interacts with ACCA when phosphorylated on Ser1263. (PMID:16698035)
  • a possible role of the ACC-alpha common sequence variants in susceptibility to breast cancer (PMID:17372234)
  • observations provide complete information about the pattern and levels of LKB1 and p-ACC immunostaining in normal tissues and in lung tumors (PMID:17521700)
  • the major mechanism of HER2-mediated induction of FASN and ACCalpha in the breast cancer cells used in this study is translational regulation primarily through the mTOR signaling pathway. (PMID:17631500)
  • AKR1B10 regulates the stability of acetyl-CoA carboxylase-alpha and is a novel regulator of the biosynthesis of fatty acid, an essential component of the cell membrane, in breast cancer cells (PMID:18056116)
  • biochemical analysis of human BRCA1 BRCT domains in complex with a phospho-peptide from human ACC1 (PMID:18452305)
  • Differential activation of recombinant ACC1 and ACC2 by citrate is reported. (PMID:18455495)
  • AMPK alpha2 activity, AMPK alpha2 Thr172 phosphorylation, and ACC-beta Ser222 phosphorylation were increased immediately after exercise. These increases had all returned to basal levels at 3 and 24 h after exercise. (PMID:18614941)
  • Data suggest that increased expression of malonyl CoA decarboxylase, and the decreased expression of acetyl CoA carboxylase and 5’-AMP activated protein kinase are important regulators of the maturation of fatty acid oxidation in the newborn human heart. (PMID:18614968)
  • The interaction between BRCA1 and acetyl-CoA-carboxylase is regulated during cell cycle progression. (PMID:19061860)
  • ACC was down-regulated in visceral adipose tissue from obese subjects, with and without diabetes mellitus type 2 (PMID:19543203)
  • data suggest that cancer cells require active SCD1 to control the rate of glucose-mediated lipogenesis, and that when SCD1 activity is impaired cells downregulate SFA synthesis via AMPK-mediated inactivation of acetyl-CoA carboxylase (PMID:19710915)
  • Data show that kidney bean husk extract exhibited antitumor effects accompanied by the increase in p-AMPK and p-Acc as well as antitumor proteins p53 and p21. (PMID:19723093)
  • Transient over-expression of CREB1 in HepG2 cells activates ACC1 PII promoter and induces the production of triacylglycerol in response to arachidonic acid (AA), indicating that the effect of AA on ACC1 is possibly regulated via CREB1. (PMID:19842072)
  • This study supports the hypothesis that the direct effects of some antipsychotics on hypertriglyceridemia may be at least partially mediated by the ACACA gene. (PMID:19846279)
  • data suggest that insulin and glucocorticoid have positive effects on both acetyl-CoA carboxylase alpha(ACC1) and beta(ACC2) gene transcription (PMID:20139635)
  • show that MIG12, a 22 kDa cytosolic protein of previously unknown function, binds to ACC and lowers the threshold for citrate activation into the physiological range. (PMID:20457939)
  • Human cytomegalovirus infection induces an increase in ACC1 mRNA and protein expression. (PMID:21471234)
  • IGF-1 reduced ACCalpha phosphorylation via an ATM/AMPK signaling pathway and suppressed ACCalpha expression through an ERK1/2 (PMID:21638027)
  • three major enzymes of the pathway, FASN, ACC, and ACLY, are up-regulated in numerous tumor types. (PMID:21726077)
  • Metabolic regulation of invadopodia and invasion by acetyl-CoA carboxylase 1 and de novo lipogenesis. (PMID:22238651)
  • Exercise training increased AMPKalpha1 activity in older men, however, AMPKalpha2 activity, and the phosphorylation of AMPK, ACC and mTOR, were not affected (PMID:23000302)
  • Single nucleotide polymorphisms in the ACACA and ACLY genes are associated with a relative change in plasma triglycierides following fish oil supplementation. (PMID:23886516)
  • Phospho-acetyl-CoA carboxylase protein expression correlates with tumor grade and the disease stage in gastric cancer. (PMID:24924473)
  • ACAT1, ACACA, ALDH6A1 and MTHFD1 represent novel biomarkers in adipose tissue associated with type 2 diabetes in obese individuals. (PMID:25099943)
  • ACACA may constitute a previously unrecognized target for novel anti-breast cancer stem cell therapies. (PMID:25246709)
  • ACC1 and ACLY regulate the levels of ETV4 under hypoxia via increased alpha-ketoglutarate. These results reveal that the ACC1/ACLY-alpha-ketoglutarate-ETV4 axis is a novel means by which metabolic states regulate transcriptional output (PMID:26452058)
  • Cetuximab-mediated activation of AMPK and subsequent phosphorylation and inhibition of ACC is followed by a compensatory increase in total ACC, which rewires cancer metabolism from glycolysis-dependent to lipogenesis-dependent. (PMID:27693630)
  • acetyl-CoA carboxylase 1 and senescence regulation in human fibroblasts involves oxidant mediated p38 MAPK activation (PMID:27983949)
  • Inhibition of Acetyl-CoA Carboxylase 1 (ACC1) and 2 (ACC2) Reduces Proliferation and De Novo Lipogenesis of EGFRvIII Human Glioblastoma Cells (PMID:28081256)
  • These data showed that ACC1 gene (ACACA) expression was twofold greater in HCC compared to non-cancerous liver. (PMID:28290443)
  • of ACCs decreased polyunsaturated fatty acid (PUFA) concentrations in liver due to reduced malonyl-CoA, which is required for elongation of essential fatty acids. (PMID:28768177)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_rerioacacaENSDARG00000078512
mus_musculusAcacaENSMUSG00000020532
rattus_norvegicusAcacaENSRNOG00000034013

Paralogs (4): ACACB (ENSG00000076555), MCCC1 (ENSG00000078070), PC (ENSG00000173599), PCCA (ENSG00000175198)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:108451) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 23 distinct phenotype terms.

Mouse phenotype (MP)Records
decreased liver triglyceride level2
abnormal liver physiology1
abnormal lipid level1
increased circulating free fatty acids level1
hyperglycemia1
decreased embryo size1
embryonic growth arrest1
abnormal glucose homeostasis1
increased circulating insulin level1
abnormal lipid homeostasis1
decreased susceptibility to hepatic steatosis1
abnormal T cell physiology1
decreased circulating free fatty acids level1
decreased circulating ketone body level1
embryonic growth retardation1
decreased T cell number1
decreased fatty acids level1
increased circulating aspartate transaminase level1
embryonic lethality during organogenesis1
decreased memory T cell number1
embryonic lethality between implantation and somite formation, complete penetrance1
abnormal lipid metabolism1
decreased liver enzyme/coenzyme activity1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

OrganismUniProtIdentityMethod
Escherichia coli K-12P2418299.8%Diamond
Escherichia coli O157:H7Q8X9B699.8%Diamond
Saccharomyces cerevisiae JAY291C7GRE499.7%Diamond
Saccharomyces cerevisiae EC1118C8ZF7299.7%Diamond
Saccharomyces cerevisiae S288CP3287499.7%Diamond
Saccharomyces cerevisiae YJM789A6ZMR999.6%Diamond
Saccharomyces cerevisiae RM11-1aB3LM9599.6%Diamond
Aspergillus terreusO9391899.6%Diamond
Aspergillus terreus NIH2624Q0CLK199.6%Diamond
Ovis ariesQ2855999.4%Diamond
Bos taurusQ9TTS399.4%Diamond
Populus trichocarpaB9HBA894.1%Diamond
Aspergillus nigerQ9HES893.3%Diamond
Gallus gallusP1102992.7%Diamond
Caenorhabditis elegansQ1984291.3%Diamond
Arabidopsis thalianaF4I1L390.2%Diamond
Mycobacterium leprae TNP4639286.0%Diamond
Mycobacterium tuberculosis H37RvP9689086.0%Diamond
Haemophilus influenzae Rd KW20P4387382.1%Diamond
Komagataella pastorisP7899281.9%Diamond
Ogataea angustaQ8X1T381.9%Diamond
Methanothermobacter thermautotrophicus str. Delta HO2793976.9%Diamond
Archaeoglobus fulgidus DSM 4304O3001976.9%Diamond
Allochromatium vinosum DSM 180O5205875.3%Diamond
Hydrogenobacter thermophilus TK-6D3DJ4275.0%Diamond
Oryza sativa Japonica GroupQ2QMG275.0%Diamond
Lachancea kluyveriA5H0J274.2%Diamond
Pseudomonas aeruginosa PAO1P3779871.9%Diamond
Methanocaldococcus jannaschii DSM 2661Q5862670.4%Diamond
Schizosaccharomyces pombe 972h-Q9UUE169.4%Diamond
Bacillus subtilis subsp. subtilis str. 168O3454469.2%Diamond
Dictyostelium discoideumQ54KE667.9%Diamond
Nostoc sp. PCC 7120 = FACHB-418Q0686266.7%Diamond
Halalkalibacterium halodurans C-125Q9KDS964.6%Diamond
Staphylococcus aureus subsp. aureus Mu50A0A0H3JRU964.1%Diamond
Cryptosporiopsis sp. 8999A0A4P8DJE657.4%Diamond
Aspergillus nidulans FGSC A4P3809545.9%Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

SymbolTypeEntrez
MIR2909ncRNA100422969
AATFprotein-coding26574
SNORA90snoRNA106635523
C17orf78protein-coding284099
DUSP14protein-coding11072
SYNRGprotein-coding11276
TADA2Aprotein-coding6871
LHX1-DTncRNA102723471
LHX1protein-coding3975
MIR378JncRNA102465136
DDX52protein-coding11056

Protein

Protein identifiers

Acetyl-CoA carboxylase 1 — Q13085 (reviewed: Q13085)

Alternative names: Acetyl-Coenzyme A carboxylase alpha

All UniProt accessions (10): A0A087WVR6, A0A087WWN5, A0A087WYK6, A0A087WYS8, A0A087X0W4, A0A087X126, A0A087X2F8, A0A0C4DGT1, Q13085, Q59FY4

UniProt curated annotations — full annotation on UniProt →

Function. Cytosolic enzyme that catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the first and rate-limiting step of de novo fatty acid biosynthesis. This is a 2 steps reaction starting with the ATP-dependent carboxylation of the biotin carried by the biotin carboxyl carrier (BCC) domain followed by the transfer of the carboxyl group from carboxylated biotin to acetyl-CoA.

Subunit / interactions. Monomer, homodimer, and homotetramer. Can form filamentous polymers. Interacts in its inactive phosphorylated form with the BRCT domains of BRCA1 which prevents ACACA dephosphorylation and inhibits lipid synthesis. Interacts with MID1IP1; interaction with MID1IP1 promotes oligomerization and increases its activity.

Subcellular location. Cytoplasm. Cytosol.

Tissue specificity. Expressed in brain, placenta, skeletal muscle, renal, pancreatic and adipose tissues; expressed at low level in pulmonary tissue; not detected in the liver.

Post-translational modifications. Phosphorylation on Ser-1263 is required for interaction with BRCA1. Phosphorylation at Ser-80 by AMPK inactivates enzyme activity. The biotin cofactor is covalently attached to the central biotinyl-binding domain and is required for the catalytic activity.

Disease relevance. Acetyl-CoA carboxylase-alpha deficiency (ACACAD) [MIM:613933] An autosomal recessive inborn error of de novo fatty acid synthesis associated with severe brain damage, persistent myopathy and poor growth. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Inhibited by phosphorylation. Citrate promotes oligomerization of the protein into filaments that correspond to the most active form of the carboxylase. Inhibited by palmitoyl-CoA.

Cofactor. Binds 2 magnesium or manganese ions per subunit.

Domain organisation. Consists of an N-terminal biotin carboxylation/carboxylase (BC) domain that catalyzes the ATP-dependent transient carboxylation of the biotin covalently attached to the central biotinyl-binding/biotin carboxyl carrier (BCC) domain. The C-terminal carboxyl transferase (CT) domain catalyzes the transfer of the carboxyl group from carboxylated biotin to acetyl-CoA to produce malonyl-CoA.

Pathway. Lipid metabolism; malonyl-CoA biosynthesis; malonyl-CoA from acetyl-CoA: step 1/1.

Isoforms (4)

UniProt IDNamesCanonical?
Q13085-11yes
Q13085-22, E5A
Q13085-33, E5B
Q13085-44

RefSeq proteins (5): NP_942131, NP_942133, NP_942134, NP_942135, NP_942136 (=MANE)

Domains & families (InterPro)

IDNameType
IPR000089Biotin_lipoylDomain
IPR001882Biotin_BSBinding_site
IPR005479CPAse_ATP-bdDomain
IPR005481BC-like_NDomain
IPR005482Biotin_COase_CDomain
IPR011053Single_hybrid_motifHomologous_superfamily
IPR011054Rudment_hybrid_motifHomologous_superfamily
IPR011761ATP-graspDomain
IPR011762COA_CT_NDomain
IPR011763COA_CT_CDomain
IPR011764Biotin_carboxylation_domDomain
IPR013537AcCoA_COase_cenDomain
IPR013815ATP_grasp_subdomain_1Homologous_superfamily
IPR016185PreATP-grasp_dom_sfHomologous_superfamily
IPR029045ClpP/crotonase-like_dom_sfHomologous_superfamily
IPR034733AcCoA_carboxyl_betaDomain
IPR049074ACCA_BTDomain
IPR049076ACCAFamily

Pfam: PF00289, PF00364, PF01039, PF02785, PF02786, PF08326, PF21385

Enzyme classification (BRENDA)

  • EC 6.4.1.2 — acetyl-CoA carboxylase (BRENDA: 88 organisms, 133 substrates, 705 inhibitors, 131 Km, 13 kcat entries)

Substrate kinetics (BRENDA)

10 substrates with measured Km, best-characterized 10. Km ranges are aggregated across organisms/conditions.

SubstrateKm (mM)Measurements
ACETYL-COA0.0002–1.239
ATP0.015–0.538
HCO3-0.3–12.827
MALONYL-COA0.016–0.755
PROPIONYL-COA0.045–0.1444
BIOCYTIN10–702
BIOTIN0.1–32
BUTYRYL-COA0.099–0.1432
ACETODETHIO-COA1.251
MG2+0.831

Catalyzed reactions (Rhea)

  • hydrogencarbonate + acetyl-CoA + ATP = malonyl-CoA + ADP + phosphate + H(+) (RHEA:11308)

UniProt features (306 total): strand 92, helix 92, sequence conflict 38, turn 25, modified residue 25, binding site 12, mutagenesis site 8, domain 5, splice variant 3, sequence variant 3, chain 1, region of interest 1, active site 1

Structure

Experimental structures (PDB)

10 structures by resolution:

PDBTitleMethodResolution (Å)
2YL2Crystal structure of human acetyl-CoA carboxylase 1, biotin carboxylase (BC) domainX-RAY DIFFRACTION2.3
8XKZCore region of the citrate-induced human acetyl-CoA carboxylase 1 filament (ACC1-citrate)ELECTRON MICROSCOPY2.55
8XL1Core region of the human acetyl-CoA carboxylase 1 filament in complex with acetyl-CoA …ELECTRON MICROSCOPY2.57
8XL2Human acetyl-CoA carboxylase 1 filament in complex with acetyl-CoA (ACC1-inact)ELECTRON MICROSCOPY2.73
4ASICrystal structure of human ACACA C-terminal domainX-RAY DIFFRACTION2.8
3COJCrystal Structure of the BRCT Domains of Human BRCA1 in Complex with a Phosphorylated …X-RAY DIFFRACTION3.21
8XL0Citrate-induced filament of human acetyl-coenzyme A carboxylase 1 (ACC1-citrate)ELECTRON MICROSCOPY4.14
6G2HFilament of acetyl-CoA carboxylase and BRCT domains of BRCA1 (ACC-BRCT) core at 4.6 A …ELECTRON MICROSCOPY4.6
6G2DCitrate-induced acetyl-CoA carboxylase (ACC-Cit) filament at 5.4 A resolutionELECTRON MICROSCOPY5.4
6G2IFilament of acetyl-CoA carboxylase and BRCT domains of BRCA1 (ACC-BRCT) at 5.9 A …ELECTRON MICROSCOPY5.9

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q13085-F183.050.41

Human Protein Atlas

Protein class: Enzymes, ENZYME proteins, Ligase, Metabolic proteins, Predicted intracellular proteins, Disease related genes, Potential drug targets

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): cytosol; actin filaments; nucleoli fibrillar center

Antibody reliability (HPA): IH approved · IF supported

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)

PositionRole
441

Ligand- & substrate-binding residues (12)

PositionRole
424Mn(2+)
437Mg(2+)
437Mn(2+)
439Mg(2+)
439Mn(2+)
1823CoA
2127CoA
2129CoA
315–320ATP
424Mg(2+)

Post-translational modifications (25)

TypePositions
N-acetylmethionine1
Phosphoserine5, 23, 25, 29, 34, 48, 50, 53, 78, 80, 488, 835, 1201, 1216, 1218, 1259, 1263, 1273
Phosphothreonine58, 610, 1227, 2153
N6-biotinyllysine786
N6-acetyllysine1334

Mutagenesis-validated functional residues (8)

PositionPhenotype
78no effect on interaction with brca1.
344no effect on interaction with brca1.
432no effect on interaction with brca1.
1201no effect on interaction with brca1.
1263abolishes interaction with brca1.
1585no effect on interaction with brca1.
1952no effect on interaction with brca1.
2211no effect on interaction with brca1.

Function

Pathways and Gene Ontology

Reactome pathways

6 curated (TAS) of 18; 5 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

18 pathways:

IDPathwayEvidence
R-HSA-3371599Defective HLCS causes multiple carboxylase deficiency ⚕curated
R-HSA-2426168Activation of gene expression by SREBF (SREBP)curated
R-HSA-196780Biotin transport and metabolismcurated
R-HSA-200425Carnitine shuttlecurated
R-HSA-163765ChREBP activates metabolic gene expressioncurated
R-HSA-75105Fatty acyl-CoA biosynthesiscurated
R-HSA-3323169Defects in biotin (Btn) metabolism ⚕—
R-HSA-3296482Defects in vitamin and cofactor metabolism ⚕—
R-HSA-1643685Disease ⚕—
R-HSA-5668914Diseases of metabolism ⚕—
R-HSA-8978868Fatty acid metabolism—
R-HSA-163685Integration of energy metabolism—
R-HSA-1430728Metabolism—
R-HSA-556833Metabolism of lipids—
R-HSA-8957322Metabolism of steroids—
R-HSA-196854Metabolism of vitamins and cofactors—
R-HSA-196849Metabolism of water-soluble vitamins and cofactors—
R-HSA-1655829Regulation of cholesterol biosynthesis by SREBP (SREBF)—

MSigDB gene sets: 360 (showing top): GGGACCA_MIR133A_MIR133B, YAATNRNNNYNATT_UNKNOWN, HNF3ALPHA_Q6, GOBP_PROTEIN_HOMOTETRAMERIZATION, GOBP_RESPONSE_TO_PROSTAGLANDIN_E, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, MIDORIKAWA_AMPLIFIED_IN_LIVER_CANCER, GOBP_CELLULAR_RESPONSE_TO_LIPID, AAGTCCA_MIR422B_MIR422A, TTTGTAG_MIR520D, GOBP_CELLULAR_RESPONSE_TO_PROSTAGLANDIN_STIMULUS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, ACTGCAG_MIR173P, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS

GO Biological Process (9): acetyl-CoA metabolic process (GO:0006084), fatty acid biosynthetic process (GO:0006633), fatty-acyl-CoA biosynthetic process (GO:0046949), protein homotetramerization (GO:0051289), malonyl-CoA biosynthetic process (GO:2001295), lipid metabolic process (GO:0006629), fatty acid metabolic process (GO:0006631), acyl-CoA metabolic process (GO:0006637), lipid biosynthetic process (GO:0008610)

GO Molecular Function (8): acetyl-CoA carboxylase activity (GO:0003989), ATP binding (GO:0005524), identical protein binding (GO:0042802), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), catalytic activity (GO:0003824), protein binding (GO:0005515), ligase activity (GO:0016874)

GO Cellular Component (2): mitochondrion (GO:0005739), cytosol (GO:0005829)

Reactome top-level categories

12 top-level categories:

CategoryPathways
Metabolism3
Fatty acid metabolism2
Metabolism of lipids2
Integration of energy metabolism1
Metabolism of water-soluble vitamins and cofactors1
Regulation of cholesterol biosynthesis by SREBP (SREBF)1
Defects in biotin (Btn) metabolism1
Metabolism of steroids1
Metabolism of vitamins and cofactors1
Diseases of metabolism1
Defects in vitamin and cofactor metabolism1
Disease1

GO top-level categories

31 GO namespaces:

CategoryTerms
acyl-CoA biosynthetic process2
lipid metabolic process2
cytoplasm2
acyl-CoA metabolic process1
fatty acid metabolic process1
lipid biosynthetic process1
monocarboxylic acid biosynthetic process1
fatty-acyl-CoA metabolic process1
fatty acid derivative biosynthetic process1
protein homooligomerization1
protein tetramerization1
malonyl-CoA metabolic process1
primary metabolic process1
monocarboxylic acid metabolic process1
nucleoside phosphate metabolic process1
sulfur compound metabolic process1
purine-containing compound metabolic process1
biosynthetic process1
CoA carboxylase activity1
adenyl ribonucleotide binding1
purine ribonucleoside triphosphate binding1
anion binding1
protein binding1
cation binding1
nucleoside phosphate binding1
heterocyclic compound binding1
molecular_function1
binding1
catalytic activity1
intracellular membrane-bounded organelle1
cellular anatomical structure1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 3 of 19 annotations. The rest are phylogenetic / computational / electronic (IEA).

3 experimentally-supported GO terms:

GO termNSEvidence
cytosolCCdirect assay
acetyl-CoA carboxylase activityMFdirect assay
identical protein bindingMFphysical interaction

Protein interactions and networks

STRING

showing 15 of 2,832 interactions by confidence (×1000):

Protein AProtein BPartner UniProtScore
ACACAFASNP49327940
ACACASCDO00767878
ACACASREBF1P36956860
ACACACPT1AP50416846
ACACAACLYP53396807
ACACAHLCSP50747790
ACACAHMGCRP04035741
ACACAACSL1P33121737
ACACADGAT1O75907730
ACACAACOX1Q15067720
ACACAELOVL6Q9H5J4718
ACACAPPARAQ07869718
ACACADGAT2Q96PD7711
ACACAPPARGP37231702
ACACAMLXIPLQ9NP71700

IntAct

Human interaction partners of ACACA in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

14 partners by confidence:

PartnerInteraction typeMIscoreRecords
SIRT1physical association0.5902
AKR1B10physical association0.5604
EGLN3association0.5301
BRCA1physical association0.5202
PIN1colocalization0.4609
RPL27Aphysical association0.4001
PCNAphysical association0.3701
OAS2association0.3501
ATXN1physical association0.0001
CHGBphysical association0.0001
CIAO1physical association0.0001
ILKphysical association0.0001
MCCphysical association0.0001
MYCphysical association0.0001

BioGRID (557 interactions; top human partners by supporting records): BRCA1 (Affinity Capture-Western; 12 records), RNF180 (Affinity Capture-Western; 5 records), ACACB (Affinity Capture-MS; 2 records), ADRBK1 (Affinity Capture-MS; 2 records), AKR1B10 (Affinity Capture-MS; 2 records), AURKA (Negative Genetic; 2 records), C12orf49 (Negative Genetic; 2 records), C20orf195 (Affinity Capture-MS; 2 records), CCNF (Proximity Label-MS; 2 records), CD274 (Affinity Capture-MS; 2 records), COPB1 (Co-fractionation; 2 records), CSNK1A1 (Affinity Capture-MS; 2 records), CUL3 (Affinity Capture-MS; 2 records), DCAF6 (Proximity Label-MS; 2 records), EGFR (Affinity Capture-MS; 2 records)

SIGNOR signaling

18 signaling interactions:

AEffectBMechanism
AMPKdown-regulatesACACAphosphorylation
ACACAdown-regulates“Food intake”
citrate(3-)“up-regulates activity”ACACAbinding
ACACA“down-regulates quantity”acetyl-CoA“chemical modification”
ACACA“up-regulates quantity”malonyl-CoA“chemical modification”
AMPK“down-regulates activity”ACACAphosphorylation
PPP4C“up-regulates activity”ACACAdephosphorylation
SREBF1“up-regulates quantity by expression”ACACA“transcriptional regulation”
COP1“down-regulates quantity by destabilization”ACACAubiquitination
TRIB3“down-regulates quantity by destabilization”ACACAbinding
PRKAA2down-regulatesACACAphosphorylation
MLXIPL“up-regulates quantity by expression”ACACA“transcriptional regulation”
PRKAA1“down-regulates activity”ACACAphosphorylation
CSNK2A1unknownACACAphosphorylation
CSNK2A2unknownACACAphosphorylation
MID1IP1“up-regulates activity”ACACAbinding
BRCA1“down-regulates activity”ACACAbinding
PRKACA“down-regulates activity”ACACAphosphorylation

Disease & clinical

Genetic variants

Variant evidence for ACACA: 480 ClinVar records (4 pathogenic / likely pathogenic); 2 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

ClassificationCount (floor)
Pathogenic4
Likely pathogenic0
Uncertain significance224
Likely benign152
Benign41

Top pathogenic / likely-pathogenic (4)

Showing all 4 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant IDHGVSClassificationReviewSubmitters
160879GRCh38/hg38 17q12(chr17:36357258-37889296)x3Pathogeniccriteria provided, multiple submitters, no conflicts2
625612GRCh37/hg19 17q12(chr17:34848678-36194230)Pathogeniccriteria provided, single submitter1
929346GRCh37/hg19 17q12(chr17:34815551-36244358)x3Pathogeniccriteria provided, single submitter1
2443957NM_198834.3(ACACA):c.4969G>A (p.Ala1657Thr)Pathogenicno assertion criteria provided1

Per-variant reference — Sugi Variant

Explore ACACA’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 42 predictions of 4,940):

Position(s)EffectΔscoreSites
17:37088936–37088937donor_loss1.00005
17:37096994–37096995donor_loss1.00005
17:37097167–37097168acceptor_loss1.00005
17:37097171acceptor_gain1.0000
17:37097828–37097829donor_loss1.00003
17:37111529–37111530donor_loss1.00005
17:37113267acceptor_loss1.00003
17:37121353–37121354donor_loss1.00005
17:37121491–37121492acceptor_loss1.00005
17:37130073–37130074donor_loss1.00005

AlphaMissense

6,100 missense substitutions predicted likely pathogenic (of 15,734 scored), across 1,393 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

ResidueLikely-pathogenic substitutionsMean am_pathogenicityMax am_pathogenicity
M78590.9330.997
M187590.8790.975
M78790.8780.980
M123690.8740.999
M149590.8680.984
M148390.8580.991
M114790.7960.982
D136780.9980.999
D94680.9970.999
F118280.9971.000
D141880.9970.999
D160080.9960.999
H55980.9950.999
F56180.9951.000
F110480.9951.000
D113280.9950.998
D145580.9940.999
H114080.9930.999
H118880.9931.000
F93680.9921.000

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

1 prognostic cancer types:

CancerPrognosticp-value
Liver Hepatocellular Carcinoma (TCGA)unfavorable9.72e-07

Disease associations

OMIM: gene MIM:200350 | disease phenotypes: MIM:613933

GenCC curated gene-disease

1 curated gene-disease records:

DiseaseClassificationInheritanceRecords
acetyl-coa carboxylase deficiencyModerateAutosomal recessive2

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (6 panels, 6 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

6 panels:

PanelRating
Hypotonic infantgreen
Intellectual disabilitygreen
Leukodystrophy, childhood onsetgreen
Likely inborn error of metabolismgreen
Paediatric disordersgreen
Unexplained death in infancy and sudden unexplained death in childhoodgreen

Mondo (1): acetyl-coa carboxylase deficiency (MONDO:0013493)

HPO phenotypes

7 phenotypes (HPO-id order):

HPOTerm
HP:0000007Autosomal recessive inheritance
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001510Growth delay
HP:0002151Increased circulating lactate concentration
HP:0003198Myopathy
HP:6000430Reduced tissue acetyl-CoA carboxylase activity

GWAS associations

2 associations:

StudyTraitp-value
GCST011494_17Daytime nap5e-22
GCST001941_16Ovarian cancer8e-10

EFO canonical traits (from GWAS)

1 canonical traits:

EFO IDTrait name
EFO:0007828daytime rest measurement

MeSH disease descriptors

1 disease descriptors:

DescriptorNameTree numbers
C562678Acetyl-Coa Carboxylase Deficiency *(supp.)*

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL3351 (SINGLE PROTEIN), CHEMBL3885507 (PROTEIN FAMILY)

Drugs acting on a complex or family that includes this protein

Curated ChEMBL mechanism-of-action drugs whose target is a protein complex or family of ≤10 members that includes ACACA — the drug acts on the assembly or class, not necessarily on this subunit alone.

4 drugs via a complex or family:

DrugTarget (ChEMBL)MembersMax phase
OLUMACOSTAT GLASARETILAcetyl-CoA carboxylase23
CLESACOSTATAcetyl-CoA carboxylase22
FIRSOCOSTATAcetyl-CoA carboxylase22
PF-05175157Acetyl-CoA carboxylase22

Molecules with ChEMBL bioactivity

Phase ≥1, by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 3,150 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

4 molecules by phase:

MoleculeNamePhasePatents
CHEMBL3545313BEMPEDOIC ACID4839
CHEMBL4567446CLESACOSTAT2775
CHEMBL3407547FIRSOCOSTAT21,258
CHEMBL3359265PF-051751572278

PharmGKB: 1 entry (CPIC guideline: no)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — Carboxylases

Most potent curated ligand interactions (5 total), top 5:

LigandActionAffinityParameter
firsocostatNegative8.68pIC50
compound 21 [PMID: 23981033]Inhibition8.0pIC50
clesacostatInhibition7.91pIC50
CP-640186Inhibition6.39pIC50
TOFAInhibition4.91pIC50

Binding affinities (BindingDB)

624 measured of 761 human assays (762 total across all organisms); most potent 50 below. Values come from heterogeneous assays and are not directly comparable.

LigandMeasureValuePatent
CHEMBL6171288IC500.22 nM
2-[1-[(2R)-2-[[(3aR,6aS)-3,3a,4,5,6,6a-hexahydro-1H-cyclopenta[c]furan-5-yl]oxy]-2-(2-methoxyphenyl)ethyl]-5-methyl-6-oxazol-2-yl-2,4-dioxo-thieno[2,3-d]pyrimidin-3-yl]-2-methyl-propionic acidIC500.23 nMUS-12428432: Thienopyrimidine derivatives having stereo configurations and use thereof in medicine
CHEMBL4875701EC500.3 nM
CHEMBL6161060IC500.32 nM
CHEMBL6149358IC500.33 nM
2-[1-[(2R)-2-(2-methoxyphenyl)-2-(oxan-4-yloxy)ethyl]-5-methyl-6-(1,3-oxazol-2-yl)-2,4-dioxo-4a,7a-dihydrothieno[2,3-d]pyrimidin-3-yl]-2-methylpropanamideIC500.37 nMUS-10995099: Compounds and their uses as ACC inhibitors
2-[1-[2-[[(3aR,6aS)-5-methylsulfonyl-1,2,3,3a,4,5,6,6a-octahydropentalen-2-yl]oxy]-2-(2-methoxyphenyl)ethyl]-5-methyl-6-oxazol-2-yl-2,4-dioxo-thieno[2,3-d]pyrimid-3-yl]-2-methyl-propanoic acidIC500.47 nMUS-10759812: Thienopyrimidine derivative and use thereof in medicine
(R)-3-((1-(2-(2-methoxyphenyl)-2-((tetrahydro-2H-pyran-4-yl)oxy)ethyl)-5-methyl-6-(oxazol-2-yl)-2,4-dioxa-1,4-dihydrothieno[2,3-d]pyrimidine-3(2H)-yl)methyl)cyclobutane-1-carboxylic acidIC500.487 nMUS-12384798: ACC inhibitor and use thereof
2-[1-[(2R)-2-(2-methoxyphenyl)-2-(oxan-4-yloxy)ethyl]-5-methyl-6-(1,3-oxazol-2-yl)-2,4-dioxo-4a,7a-dihydrothieno[2,3-d]pyrimidin-3-yl]-2-methylpropanoic acidIC500.49 nMUS-11186587: Compound as ACC inhibitor and use thereof
CHEMBL6146650IC500.52 nM
CHEMBL4073202IC500.58 nM
2-[1-[2-(2-methoxyphenyl)-2-(1-methylsulfonylpiperidin-4-yl)oxyethyl]-5-methyl-6-(1,3-oxazol-2-yl)-2,4-dioxo-4aH-thieno[2,3-d]pyrimidin-1-ium-3-yl]-2-methylpropanoic acidIC500.63 nMUS-11186587: Compound as ACC inhibitor and use thereof
2-[1-[2-[[(3aR,6aS)-5-cyclopropyl-5-hydroxy-2,3,3a,4,6,6a-hexahydro-1H-pentalen-2-yl]oxy]-2-(2-methoxyphenyl)ethyl]-5-methyl-6-oxazol-2-yl-2,4-dioxo-thieno[2,3-d]pyrimid-3-yl]-2-methyl-propanoic acidIC500.67 nMUS-10759812: Thienopyrimidine derivative and use thereof in medicine
3-[1-[(2R)-2-(2-methoxyphenyl)-2-(oxan-4-yloxy)ethyl]-5-methyl-6-(1,3-oxazol-2-yl)-2,4-dioxo-4a,7a-dihydrothieno[2,3-d]pyrimidin-3-yl]-1-methylcyclobutane-1-carboxylic acidIC500.68 nMUS-11186587: Compound as ACC inhibitor and use thereof
(R)-2-(3-(1-(2-(2-methoxyphenyl)-2-((tetrahydro-2H-pyran-4-yl)oxy)ethyl)-5-methyl-6-(oxazol-2-yl)-2,4-dioxo-1,4-dihydrothieno[2,3-d]pyrimidine-3(2H)-yl)cyclobutyl)acetic acidIC500.688 nMUS-12384798: ACC inhibitor and use thereof
3-[1-[2-(2-methoxyphenyl)-2-(oxan-4-yloxy)ethyl]-5-methyl-6-(1,3-oxazol-2-yl)-2,4-dioxo-4a,7a-dihydrothieno[2,3-d]pyrimidin-3-yl]cyclobutane-1-carboxylic acidIC500.69 nMUS-11186587: Compound as ACC inhibitor and use thereof
2-[1-[2-[1-(cyclopropanecarbonyl)piperidin-4-yl]oxy-2-(2-methoxyphenyl)ethyl]-5-methyl-6-(1,3-oxazol-2-yl)-2,4-dioxo-4aH-thieno[2,3-d]pyrimidin-1-ium-3-yl]-2-methylpropanoic acidIC500.7 nMUS-11186587: Compound as ACC inhibitor and use thereof
CHEMBL6164037IC500.71 nM
CHEMBL4060253IC500.76 nM
CHEMBL6174786IC500.79 nM
2-[1-[2-(2-methoxyphenyl)-2-[(2-methylsulfonyl-3,3a,4,5,6,6a-hexahydro-1H-cyclopenteno[c]pyrrole-5-yl)oxy]ethyl]-5-methyl-6-oxazol-2-yl-2,4-dioxo-thieno[2,3-d]pyrimid-3-yl]-2-methyl-propanoic acidIC500.81 nMUS-10759812: Thienopyrimidine derivative and use thereof in medicine
2-((1R,3R)-3-(1-((R)-2-(2-methoxyphenyl)-2-((tetrahydro-2H-pyran-4-yl)oxy)ethyl)-5-methyl-6-(oxazol-2-yl)-2,4-dioxo-1,2-dihydrothieno[2,3-d]pyrimidine-3(4H)-yl)cyclobutyl)acetic acidIC500.836 nMUS-12384798: ACC inhibitor and use thereof
CHEMBL6143782IC500.85 nM
3-methoxy-4-[1-[2-(2-methoxyphenyl)-2-(oxan-4-yloxy)ethyl]-5-methyl-6-(1,3-oxazol-2-yl)-2,4-dioxo-4a,7a-dihydrothieno[2,3-d]pyrimidin-3-yl]benzoic acidIC500.87 nMUS-11186587: Compound as ACC inhibitor and use thereof
2-[1-[2-[[(3aR,6aS)-5-ethyl-5-hydroxy-2,3,3a,4,6,6a-hexahydro-1H-pentalen-2-yl]oxy]-2-(2-methoxyphenyl)ethyl)-5-methyl-6-oxazol-2-yl-2,4-dioxo-thieno[2,3-d]pyrimid-3-yl]-2-methyl-propanoic acidIC500.88 nMUS-10759812: Thienopyrimidine derivative and use thereof in medicine
2-[1-[2-[[(3aR,6aS)-5-hydroxy-5-(trifluoromethyl)-2,3,3a,4,6,6a-hexahydro-1H-pentalen-2-yl]oxy]-2-(2-methoxyphenyl)ethyl]-5-methyl-6-oxazol-2-yl-2,4-dioxo-thieno[2,3-d]pyrimid-3-yl]-2-methyl-propanoic acidIC500.89 nMUS-10759812: Thienopyrimidine derivative and use thereof in medicine
CHEMBL4874989EC500.9 nM
4-[4-(2-tert-butyl-4-oxospiro[5,7-dihydro-1,3-benzothiazole-6,4’-piperidine]-1’-carbonyl)-6-(dimethylamino)-2-pyridinyl]benzamideIC500.9 nMUS-20240109915: NOVEL ACC INHIBITORS
2-[1-[2-(1-acetylpiperidin-4-yl)oxy-2-(2-methoxyphenyl)ethyl]-5-methyl-6-(1,3-oxazol-2-yl)-2,4-dioxo-4aH-thieno[2,3-d]pyrimidin-1-ium-3-yl]-2-methylpropanoic acidIC500.91 nMUS-11186587: Compound as ACC inhibitor and use thereof
2-[1-[2-[[(3aS,6aR)-5-hydroxy-1,2,3,3a,4,5,6,6a-octahydropentalen-2-yl]oxy]-2-(2-methoxyphenyl)ethyl]-5-methyl-6-oxazol-2-yl-2,4-dioxo-thieno[2,3-d]pyrimid-3-yl]-2-methyl-propanoic acidIC500.93 nMUS-10759812: Thienopyrimidine derivative and use thereof in medicine
CHEMBL6168887IC500.95 nM
CHEMBL4085633IC500.96 nM
CHEMBL4086127IC500.96 nM
CHEMBL4864719EC501 nM
CHEMBL4875627EC501 nM
CHEMBL4859704EC501 nM
CHEMBL4861716EC501 nM
3-[1-[(2R)-2-(2-methoxyphenyl)-2-(oxan-4-yloxy)ethyl]-5-methyl-6-(1,3-oxazol-2-yl)-2,4-dioxo-4a,7a-dihydrothieno[2,3-d]pyrimidin-3-yl]-1-methylcyclobutane-1-carboxylic acidIC501 nMUS-11186587: Compound as ACC inhibitor and use thereof
2-[1-[(2R)-2-[[(3aS,6aS)-3,3a,4,5,6,6a-hexahydro-1H-cyclopenta[c]furan-5-yl]oxy]-2-(2-methoxyphenyl)ethyl]-5-methyl-6-oxazol-2-yl-2,4-dioxo-thieno[2,3-d]pyrimidin-3-yl]-2-methyl-propionic acidIC501.09 nMUS-12428432: Thienopyrimidine derivatives having stereo configurations and use thereof in medicine
CHEMBL6166957IC501.1 nM
CHEMBL6173125IC501.1 nM
3-[1-(cyclopropanecarbonyl)azetidin-3-yl]-1-[2-(2-methoxyphenyl)-2-(oxan-4-yloxy)ethyl]-5-methyl-6-(1,3-oxazol-2-yl)-4a,7a-dihydrothieno[2,3-d]pyrimidine-2,4-dioneIC501.12 nMUS-11186587: Compound as ACC inhibitor and use thereof
2-((1S,3S)-3-(1-((R)-2-(2-methoxyphenyl)-2-((tetrahydro-2H-pyran-4-yl)oxy)ethyl)-5-methyl-6-(oxazol-2-yl)-2,4-dioxo-1,2-dihydrothieno[2,3-d]pyrimidine-3(4H)-yl)cyclobutyl)acetic acidIC501.12 nMUS-12384798: ACC inhibitor and use thereof
2-[1-[2-[[(1S,3S,5R)-6,8-dioxabicyclo[3.2.1]oct-3-yl]oxy]-2-(2-methoxyphenyl)-5-methyl-6-oxazol-2-yl-2,4-dioxo-thieno[2,3-d]pyrimid-3-yl]-2-methyl-propanoic acidIC501.21 nMUS-10759812: Thienopyrimidine derivative and use thereof in medicine
1-[2-(2-methoxyphenyl)-2-(oxan-4-yloxy)ethyl]-5-methyl-3-[1-(morpholine-4-carbonyl)azetidin-3-yl]-6-(1,3-oxazol-2-yl)-4a,7a-dihydrothieno[2,3-d]pyrimidine-2,4-dioneIC501.22 nMUS-11186587: Compound as ACC inhibitor and use thereof
CHEMBL4777068IC501.3 nM
CHEMBL5411569IC501.3 nM
2-tert-butyl-1’-(4-chloro-5-methyl-1H-indazole-7-carbonyl)spiro[5,7-dihydro-1,3-benzothiazole-6,4’-piperidine]-4-oneIC501.3 nMUS-20240109915: NOVEL ACC INHIBITORS
3-(1-ethylsulfonylazetidin-3-yl)-1-[2-(2-methoxyphenyl)-2-(oxan-4-yloxy)ethyl]-5-methyl-6-(1,3-oxazol-2-yl)-4a,7a-dihydrothieno[2,3-d]pyrimidine-2,4-dioneIC501.35 nMUS-11186587: Compound as ACC inhibitor and use thereof
2-[1-[(2R)-2-[[(3aR,6aR)-3,3a,4,5,6,6a-hexahydro-1H-cyclopenta[c]furan-5-yl]oxy]-2-(2-methoxyphenyl)ethyl]-5-methyl-6-oxazol-2-yl-2,4-dioxo-thieno[2,3-d]pyrimidin-3-yl]-2-methyl-propionic acidIC501.42 nMUS-12428432: Thienopyrimidine derivatives having stereo configurations and use thereof in medicine

ChEMBL bioactivities

782 potent at pChembl≥5 of 802 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChemblTypeValueUnitMolecule
9.66IC500.22nMCHEMBL6171288
9.52EC500.3nMCHEMBL4875701
9.49IC500.32nMCHEMBL6161060
9.48IC500.33nMCHEMBL6149358
9.43IC500.37nMCHEMBL6012286
9.33IC500.47nMCHEMBL5918349
9.31IC500.49nMFIRSOCOSTAT
9.30IC500.5nMFIRSOCOSTAT
9.28IC500.52nMCHEMBL6146650
9.24IC500.58nMCHEMBL4073202
9.20IC500.63nMCHEMBL5923261
9.17IC500.67nMCHEMBL5768893
9.17IC500.68nMCHEMBL5814783
9.16IC500.69nMCHEMBL5840411
9.15IC500.7nMCHEMBL5986273
9.15IC500.71nMCHEMBL6164037
9.14IC500.73nMCHEMBL5814783
9.12IC500.76nMCHEMBL4060253
9.10IC500.79nMCHEMBL6174786
9.09IC500.81nMCHEMBL5788250
9.07IC500.85nMCHEMBL6143782
9.06IC500.88nMCHEMBL5963413
9.06IC500.87nMCHEMBL5991352
9.05EC500.9nMCHEMBL4874989
9.05IC500.9nMCHEMBL5404551
9.05IC500.89nMCHEMBL5900123
9.04IC500.91nMCHEMBL5856218
9.03IC500.93nMCHEMBL5769140
9.02IC500.96nMCHEMBL4085633
9.02IC500.96nMCHEMBL4086127
9.02IC500.95nMCHEMBL6168887
9.00EC501nMCHEMBL4864719
9.00EC501nMCHEMBL4875627
9.00EC501nMCHEMBL4859704
9.00EC501nMCHEMBL4861716
9.00IC501nMCHEMBL5997686
8.98IC501.05nMCHEMBL6173125
8.96IC501.1nMCHEMBL6166957
8.95IC501.12nMCHEMBL5922268
8.92IC501.21nMCHEMBL5791009
8.91IC501.22nMCHEMBL5926678
8.89IC501.29nMCHEMBL4777068
8.89IC501.3nMCHEMBL5435853
8.89IC501.3nMCHEMBL5411569
8.87IC501.35nMCHEMBL6057395
8.86IC501.37nMCHEMBL5997686
8.85IC501.43nMCHEMBL5889718
8.85IC501.43nMCHEMBL5890205
8.85IC501.43nMCHEMBL5757590
8.83IC501.48nMCHEMBL6039150

PubChem BioAssay actives

486 with measured affinity, of 737 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
3-[1-[(2R)-2-(5-fluoro-2-methoxyphenyl)-2-(oxan-4-yloxy)ethyl]-5-methyl-6-(1,3-oxazol-2-yl)-2,4-dioxothieno[2,3-d]pyrimidin-3-yl]-1-methylcyclobutane-1-carboxylic acid2262885: Inhibition of recombinant human ACC1 using acetyl-Co A as substrate incubated for 60 mins in presence of ATP by ADP-Glo assayic500.0002uM
2-[1-[(2R)-2-(5-fluoro-2-methoxyphenyl)-2-[[(1S,5R)-8-oxabicyclo[3.2.1]octan-3-yl]oxy]ethyl]-5-methyl-2,4-dioxo-6-(triazol-2-yl)thieno[2,3-d]pyrimidin-3-yl]-2-methyl-N-(1-methylcyclopropyl)sulfonylpropanamide1760081: Inhibition of ACC1 in human HepG2 cells assessed as lipid content using 13C-labelled acetate as substrate incubated for 1 hr followed by substrate addition and measured after 24 hrs by QTOF mass spectrometerec500.0003uM
3-[1-[(2R)-2-(4-hydroxycyclohexyl)oxy-2-(2-methoxyphenyl)ethyl]-5-methyl-6-(1,3-oxazol-2-yl)-2,4-dioxothieno[2,3-d]pyrimidin-3-yl]-1-methylcyclobutane-1-carboxylic acid2262885: Inhibition of recombinant human ACC1 using acetyl-Co A as substrate incubated for 60 mins in presence of ATP by ADP-Glo assayic500.0003uM
1-(fluoromethyl)-3-[1-[(2R)-2-(2-methoxyphenyl)-2-(oxan-4-yloxy)ethyl]-5-methyl-6-(1,3-oxazol-2-yl)-2,4-dioxothieno[2,3-d]pyrimidin-3-yl]cyclobutane-1-carboxylic acid2262885: Inhibition of recombinant human ACC1 using acetyl-Co A as substrate incubated for 60 mins in presence of ATP by ADP-Glo assayic500.0003uM
2-[1-[(2R)-2-(2-methoxyphenyl)-2-(oxan-4-yloxy)ethyl]-5-methyl-6-(1,3-oxazol-2-yl)-2,4-dioxothieno[2,3-d]pyrimidin-3-yl]-2-methylpropanamide2262885: Inhibition of recombinant human ACC1 using acetyl-Co A as substrate incubated for 60 mins in presence of ATP by ADP-Glo assayic500.0004uM
3-[1-[(2R)-2-(5-fluoro-2-methoxyphenyl)-2-(4-hydroxycyclohexyl)oxyethyl]-5-methyl-6-(1,3-oxazol-2-yl)-2,4-dioxothieno[2,3-d]pyrimidin-3-yl]-1-methylcyclobutane-1-carboxylic acid2262885: Inhibition of recombinant human ACC1 using acetyl-Co A as substrate incubated for 60 mins in presence of ATP by ADP-Glo assayic500.0005uM
2-[1-[(2R)-2-(2-methoxyphenyl)-2-(oxan-4-yloxy)ethyl]-5-methyl-6-(1,3-oxazol-2-yl)-2,4-dioxothieno[2,3-d]pyrimidin-3-yl]-2-methylpropanoic acid2262885: Inhibition of recombinant human ACC1 using acetyl-Co A as substrate incubated for 60 mins in presence of ATP by ADP-Glo assayic500.0005uM
[(2S)-1-[[2-[4-[3-(cyclopropylmethoxy)phenoxy]phenyl]-1,3-oxazol-5-yl]oxy]propan-2-yl]urea1472479: Inhibition of recombinant human ACC1 expressed in SF-9 cells preincubated for 60 mins followed by addition of substrate solution containing acetyl-CoA after 30 mins by measuring malonyl 13C3-CoA by RapidFire mass spectrometryic500.0006uM
3-[1-[(2R)-2-(2-methoxyphenyl)-2-(oxan-4-yloxy)ethyl]-5-methyl-6-(1,3-oxazol-2-yl)-2,4-dioxothieno[2,3-d]pyrimidin-3-yl]-1-methylcyclobutane-1-carboxylic acid2262885: Inhibition of recombinant human ACC1 using acetyl-Co A as substrate incubated for 60 mins in presence of ATP by ADP-Glo assayic500.0007uM
N-[1-[2-[6-[3-(cyclopropylmethoxy)phenoxy]-3-pyridinyl]-1,3-benzoxazol-6-yl]ethyl]acetamide1472481: Inhibition of ACC1 in human HCT116 cells assessed as reduction of [14C]acetate uptake preincubated for 60 mins followed by addition of [14C]acetate and measured after 2 hrs by scintillation counting analysisic500.0008uM
3-[1-[(2R)-2-(2-methoxyphenyl)-2-(oxan-4-yloxy)ethyl]-5-methyl-6-(1,3-oxazol-2-yl)-2,4-dioxothieno[2,3-d]pyrimidin-3-yl]cyclobutane-1-carboxylic acid2262885: Inhibition of recombinant human ACC1 using acetyl-Co A as substrate incubated for 60 mins in presence of ATP by ADP-Glo assayic500.0008uM
1-[[1-[(2R)-2-(2-methoxyphenyl)-2-(oxan-4-yloxy)ethyl]-5-methyl-6-(1,3-oxazol-2-yl)-2,4-dioxothieno[2,3-d]pyrimidin-3-yl]methyl]cyclopropane-1-carboxylic acid2262885: Inhibition of recombinant human ACC1 using acetyl-Co A as substrate incubated for 60 mins in presence of ATP by ADP-Glo assayic500.0008uM
1-[1-[(2R)-2-[2-(difluoromethoxy)-5-fluorophenyl]-2-[[(1S,5R)-8-oxabicyclo[3.2.1]octan-3-yl]oxy]ethyl]-5-methyl-2,4-dioxo-6-(triazol-2-yl)thieno[2,3-d]pyrimidin-3-yl]-N-(1-methylcyclopropyl)sulfonylcyclopropane-1-carboxamide1760081: Inhibition of ACC1 in human HepG2 cells assessed as lipid content using 13C-labelled acetate as substrate incubated for 1 hr followed by substrate addition and measured after 24 hrs by QTOF mass spectrometerec500.0009uM
4-[4-(2-tert-butyl-4-oxospiro[5,7-dihydro-1,3-benzothiazole-6,4’-piperidine]-1’-carbonyl)-6-(dimethylamino)-2-pyridinyl]benzamide1985719: Inhibition of full length human recombinant ACC1 expressed in baculovirus infected Sf9 cells incubated for 18 hrs in presence of ATP by envision fluorescence reader analysisic500.0009uM
1-[(2R)-2-(2-methoxyphenyl)-2-(oxan-4-yloxy)ethyl]-5-methyl-6-(1,3-oxazol-2-yl)-3-[1-(2,2,2-trifluoroethyl)azetidin-3-yl]thieno[2,3-d]pyrimidine-2,4-dione2262885: Inhibition of recombinant human ACC1 using acetyl-Co A as substrate incubated for 60 mins in presence of ATP by ADP-Glo assayic500.0009uM
N-[(2S)-1-[[2-[4-[3-(cyclopropylmethoxy)phenoxy]phenyl]-1,3-oxazol-5-yl]oxy]propan-2-yl]acetamide1472479: Inhibition of recombinant human ACC1 expressed in SF-9 cells preincubated for 60 mins followed by addition of substrate solution containing acetyl-CoA after 30 mins by measuring malonyl 13C3-CoA by RapidFire mass spectrometryic500.0010uM
N-[(2S)-1-[[2-[6-[3-(cyclopropylmethoxy)phenoxy]-3-pyridinyl]-1,3-oxazol-5-yl]oxy]propan-2-yl]acetamide1472479: Inhibition of recombinant human ACC1 expressed in SF-9 cells preincubated for 60 mins followed by addition of substrate solution containing acetyl-CoA after 30 mins by measuring malonyl 13C3-CoA by RapidFire mass spectrometryic500.0010uM
(2R)-2-[1-[(2R)-2-(2-methoxyphenyl)-2-[[(1S,5R)-8-oxabicyclo[3.2.1]octan-3-yl]oxy]ethyl]-5-methyl-6-(1,3-oxazol-2-yl)-2,4-dioxothieno[2,3-d]pyrimidin-3-yl]-N-(1-methylcyclopropyl)sulfonylpropanamide1760081: Inhibition of ACC1 in human HepG2 cells assessed as lipid content using 13C-labelled acetate as substrate incubated for 1 hr followed by substrate addition and measured after 24 hrs by QTOF mass spectrometerec500.0010uM
2-[1-[(2R)-2-(2-methoxyphenyl)-2-[[(1S,5R)-8-oxabicyclo[3.2.1]octan-3-yl]oxy]ethyl]-5-methyl-6-(1,3-oxazol-2-yl)-2,4-dioxothieno[2,3-d]pyrimidin-3-yl]-2-methyl-N-(1-methylcyclopropyl)sulfonylpropanamide1760081: Inhibition of ACC1 in human HepG2 cells assessed as lipid content using 13C-labelled acetate as substrate incubated for 1 hr followed by substrate addition and measured after 24 hrs by QTOF mass spectrometerec500.0010uM
1-[1-[(2R)-2-(2-methoxyphenyl)-2-[[(1S,5R)-8-oxabicyclo[3.2.1]octan-3-yl]oxy]ethyl]-5-methyl-2,4-dioxo-6-(triazol-2-yl)thieno[2,3-d]pyrimidin-3-yl]-N-(1-methylcyclopropyl)sulfonylcyclopropane-1-carboxamide1760081: Inhibition of ACC1 in human HepG2 cells assessed as lipid content using 13C-labelled acetate as substrate incubated for 1 hr followed by substrate addition and measured after 24 hrs by QTOF mass spectrometerec500.0010uM
2-[1-[(2R)-2-(2-methoxyphenyl)-2-[[(1S,5R)-8-oxabicyclo[3.2.1]octan-3-yl]oxy]ethyl]-5-methyl-2,4-dioxo-6-(triazol-2-yl)thieno[2,3-d]pyrimidin-3-yl]-2-methyl-N-(1-methylcyclopropyl)sulfonylpropanamide1760081: Inhibition of ACC1 in human HepG2 cells assessed as lipid content using 13C-labelled acetate as substrate incubated for 1 hr followed by substrate addition and measured after 24 hrs by QTOF mass spectrometerec500.0010uM
3-[1-[(2R)-2-(2-methoxyphenyl)-2-(oxan-4-yloxy)ethyl]-5-methyl-6-(1,3-oxazol-2-yl)-2,4-dioxothieno[2,3-d]pyrimidin-3-yl]-1-methylcyclobutane-1-carboxamide2262885: Inhibition of recombinant human ACC1 using acetyl-Co A as substrate incubated for 60 mins in presence of ATP by ADP-Glo assayic500.0010uM
1-[(2R)-2-(2-methoxyphenyl)-2-(oxan-4-yloxy)ethyl]-5-methyl-3-[1-(morpholine-4-carbonyl)azetidin-3-yl]-6-(1,3-oxazol-2-yl)thieno[2,3-d]pyrimidine-2,4-dione2262885: Inhibition of recombinant human ACC1 using acetyl-Co A as substrate incubated for 60 mins in presence of ATP by ADP-Glo assayic500.0011uM
1’-[2-(4-aminophenyl)quinoline-4-carbonyl]-2-tert-butylspiro[6H-pyrano[3,2-c]pyrazole-5,4’-piperidine]-7-one1729093: Inhibition of recombinant human C-terminal His-tagged ACC1 (1 to 2383 residues) expressed in baculovirus infected Sf9 insect cells preincubated for 15 mins followed by substrate addition and measured after 60 mins by ADP-glo luminescence assayic500.0013uM
2-tert-butyl-1’-(4-chloro-5-methyl-1H-indazole-7-carbonyl)spiro[5,7-dihydro-1,3-benzothiazole-6,4’-piperidine]-4-one1985719: Inhibition of full length human recombinant ACC1 expressed in baculovirus infected Sf9 cells incubated for 18 hrs in presence of ATP by envision fluorescence reader analysisic500.0013uM
2-tert-butyl-1’-(4-chloro-5-methoxy-1H-indole-7-carbonyl)spiro[5,7-dihydro-1,3-benzothiazole-6,4’-piperidine]-4-one1985719: Inhibition of full length human recombinant ACC1 expressed in baculovirus infected Sf9 cells incubated for 18 hrs in presence of ATP by envision fluorescence reader analysisic500.0013uM
1-[2-[6-[3-(cyclopropylmethoxy)phenoxy]-3-pyridinyl]-1,3-benzoxazol-6-yl]ethylurea1611142: Inhibition of recombinant human His-tagged ACC1 expressed in baculovirus infected SF9 cells using acetyl-CoA as substrate incubated for 60 mins followed by substrate addition and measured after 30 mins Rapidfire-Mass spectrometryic500.0015uM
2-tert-butyl-1’-[5-methoxy-2-(methylamino)quinoline-7-carbonyl]spiro[5,7-dihydro-1,3-benzothiazole-6,4’-piperidine]-4-one1985719: Inhibition of full length human recombinant ACC1 expressed in baculovirus infected Sf9 cells incubated for 18 hrs in presence of ATP by envision fluorescence reader analysisic500.0015uM
3-[1-(1H-imidazole-2-carbonyl)azetidin-3-yl]-1-[(2R)-2-(2-methoxyphenyl)-2-(oxan-4-yloxy)ethyl]-5-methyl-6-(1,3-oxazol-2-yl)thieno[2,3-d]pyrimidine-2,4-dione2262885: Inhibition of recombinant human ACC1 using acetyl-Co A as substrate incubated for 60 mins in presence of ATP by ADP-Glo assayic500.0015uM
2-tert-butyl-1’-[8-methyl-2-(methylamino)quinoline-3-carbonyl]spiro[5,7-dihydro-1,3-benzothiazole-6,4’-piperidine]-4-one1985719: Inhibition of full length human recombinant ACC1 expressed in baculovirus infected Sf9 cells incubated for 18 hrs in presence of ATP by envision fluorescence reader analysisic500.0018uM
2-tert-butyl-1’-[2-(propylamino)quinoline-7-carbonyl]spiro[4,6-dihydropyrazolo[3,4-c]pyridine-5,4’-piperidine]-7-one767840: Inhibition of human ACC1 using acetyl-CoA as substrate assessed as [14C]malonyl-CoA synthesis preincubated for 10 mins prior to substrate addition measured after 20 mins by liquid scintillation counting analysis in presence of NaH[14C]O3ic500.0018uM
3-[1-[2-[6-[3-(cyclopropylmethoxy)phenoxy]-3-pyridinyl]-1,3-benzoxazol-6-yl]ethyl]-1,1-dimethylurea1611142: Inhibition of recombinant human His-tagged ACC1 expressed in baculovirus infected SF9 cells using acetyl-CoA as substrate incubated for 60 mins followed by substrate addition and measured after 30 mins Rapidfire-Mass spectrometryic500.0021uM
1-[(2R)-2-(2-methoxyphenyl)-2-(oxan-4-yloxy)ethyl]-5-methyl-6-(1,3-oxazol-2-yl)-3-[1-(pyridine-2-carbonyl)azetidin-3-yl]thieno[2,3-d]pyrimidine-2,4-dione2262885: Inhibition of recombinant human ACC1 using acetyl-Co A as substrate incubated for 60 mins in presence of ATP by ADP-Glo assayic500.0021uM
N-[1-[2-[4-[3-(cyclopropylmethoxy)phenoxy]phenyl]-1,3-benzoxazol-6-yl]ethyl]acetamide1472481: Inhibition of ACC1 in human HCT116 cells assessed as reduction of [14C]acetate uptake preincubated for 60 mins followed by addition of [14C]acetate and measured after 2 hrs by scintillation counting analysisic500.0022uM
2-tert-butyl-1’-[2-(4-methylphenyl)quinoline-4-carbonyl]spiro[6H-pyrano[3,2-c]pyrazole-5,4’-piperidine]-7-one1729093: Inhibition of recombinant human C-terminal His-tagged ACC1 (1 to 2383 residues) expressed in baculovirus infected Sf9 insect cells preincubated for 15 mins followed by substrate addition and measured after 60 mins by ADP-glo luminescence assayic500.0022uM
2-tert-butyl-1’-(7-ethoxy-1,3-dimethylindazole-5-carbonyl)spiro[5,7-dihydro-1,3-benzothiazole-6,4’-piperidine]-4-one1985719: Inhibition of full length human recombinant ACC1 expressed in baculovirus infected Sf9 cells incubated for 18 hrs in presence of ATP by envision fluorescence reader analysisic500.0022uM
2-tert-butyl-1’-[2-(methylamino)quinoline-7-carbonyl]spiro[4,6-dihydroindazole-5,4’-piperidine]-7-one725837: Inhibition of human recombinant ACC1ic500.0022uM
2-tert-butyl-1’-[2-[4-(dimethylamino)phenyl]quinoline-4-carbonyl]spiro[6H-pyrano[3,2-c]pyrazole-5,4’-piperidine]-7-one1729093: Inhibition of recombinant human C-terminal His-tagged ACC1 (1 to 2383 residues) expressed in baculovirus infected Sf9 insect cells preincubated for 15 mins followed by substrate addition and measured after 60 mins by ADP-glo luminescence assayic500.0027uM
5-[1’-(1-cyclopropyl-4-methoxy-3-methylindole-6-carbonyl)-4-oxospiro[3H-chromene-2,4’-piperidine]-6-yl]pyridine-3-carboxylic acid1546893: Inhibition of ACC1 (unknown origin)ic500.0030uM
2-tert-butyl-1’-[2-(4-methoxyphenyl)quinoline-4-carbonyl]spiro[6H-pyrano[3,2-c]pyrazole-5,4’-piperidine]-7-one1729093: Inhibition of recombinant human C-terminal His-tagged ACC1 (1 to 2383 residues) expressed in baculovirus infected Sf9 insect cells preincubated for 15 mins followed by substrate addition and measured after 60 mins by ADP-glo luminescence assayic500.0032uM
2-tert-butyl-1’-[2-(3,4-dimethoxyphenyl)quinoline-4-carbonyl]spiro[6H-pyrano[3,2-c]pyrazole-5,4’-piperidine]-7-one1729093: Inhibition of recombinant human C-terminal His-tagged ACC1 (1 to 2383 residues) expressed in baculovirus infected Sf9 insect cells preincubated for 15 mins followed by substrate addition and measured after 60 mins by ADP-glo luminescence assayic500.0036uM
1-[1-[2-[6-[3-(cyclopropylmethoxy)phenoxy]-3-pyridinyl]-1,3-benzoxazol-6-yl]ethyl]-3-methylurea1611142: Inhibition of recombinant human His-tagged ACC1 expressed in baculovirus infected SF9 cells using acetyl-CoA as substrate incubated for 60 mins followed by substrate addition and measured after 30 mins Rapidfire-Mass spectrometryic500.0038uM
N-[4-[2-[4-[3-(cyclopropylmethoxy)phenoxy]phenyl]-1,3-oxazol-5-yl]butan-2-yl]acetamide1472479: Inhibition of recombinant human ACC1 expressed in SF-9 cells preincubated for 60 mins followed by addition of substrate solution containing acetyl-CoA after 30 mins by measuring malonyl 13C3-CoA by RapidFire mass spectrometryic500.0049uM
2-tert-butyl-1’-[2-(dimethylamino)quinoline-7-carbonyl]spiro[4,6-dihydropyrazolo[3,4-c]pyridine-5,4’-piperidine]-7-one767840: Inhibition of human ACC1 using acetyl-CoA as substrate assessed as [14C]malonyl-CoA synthesis preincubated for 10 mins prior to substrate addition measured after 20 mins by liquid scintillation counting analysis in presence of NaH[14C]O3ic500.0050uM
1’-(6-methoxyquinoline-3-carbonyl)-1-propan-2-ylspiro[4,6-dihydroindazole-5,4’-piperidine]-7-one725837: Inhibition of human recombinant ACC1ic500.0050uM
3-(1-benzoylazetidin-3-yl)-1-[(2R)-2-(2-methoxyphenyl)-2-(oxan-4-yloxy)ethyl]-5-methyl-6-(1,3-oxazol-2-yl)thieno[2,3-d]pyrimidine-2,4-dione2262885: Inhibition of recombinant human ACC1 using acetyl-Co A as substrate incubated for 60 mins in presence of ATP by ADP-Glo assayic500.0054uM
1’-[2-(4-bromophenyl)quinoline-4-carbonyl]-2-tert-butylspiro[6H-pyrano[3,2-c]pyrazole-5,4’-piperidine]-7-one1729093: Inhibition of recombinant human C-terminal His-tagged ACC1 (1 to 2383 residues) expressed in baculovirus infected Sf9 insect cells preincubated for 15 mins followed by substrate addition and measured after 60 mins by ADP-glo luminescence assayic500.0057uM
N-[(2S)-1-[[2-[5-[3-(cyclopropylmethoxy)phenoxy]-2-pyridinyl]-1,3-oxazol-5-yl]oxy]propan-2-yl]acetamide1472479: Inhibition of recombinant human ACC1 expressed in SF-9 cells preincubated for 60 mins followed by addition of substrate solution containing acetyl-CoA after 30 mins by measuring malonyl 13C3-CoA by RapidFire mass spectrometryic500.0058uM
2-tert-butyl-1’-(2-phenylquinoline-4-carbonyl)spiro[6H-pyrano[3,2-c]pyrazole-5,4’-piperidine]-7-one1729093: Inhibition of recombinant human C-terminal His-tagged ACC1 (1 to 2383 residues) expressed in baculovirus infected Sf9 insect cells preincubated for 15 mins followed by substrate addition and measured after 60 mins by ADP-glo luminescence assayic500.0060uM
2-tert-butyl-1’-[2-(methylamino)quinoline-7-carbonyl]spiro[4,6-dihydropyrazolo[3,4-c]pyridine-5,4’-piperidine]-7-one767840: Inhibition of human ACC1 using acetyl-CoA as substrate assessed as [14C]malonyl-CoA synthesis preincubated for 10 mins prior to substrate addition measured after 20 mins by liquid scintillation counting analysis in presence of NaH[14C]O3ic500.0060uM

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
dorsomorphinaffects cotreatment, decreases reaction, increases phosphorylation, increases expression, decreases expression (+1 more)9
bisphenol Aincreases expression, decreases expression, decreases reaction7
Resveratrolaffects cotreatment, increases expression, increases reaction, decreases activity, decreases reaction (+1 more)7
Valproic Aciddecreases expression, affects reaction, increases expression, affects expression, affects methylation7
T0901317decreases reaction, increases expression, decreases phosphorylation, decreases expression6
Benzo(a)pyreneaffects cotreatment, decreases expression, affects methylation5
Oleic Aciddecreases expression, decreases reaction, increases expression, increases reaction, affects cotreatment5
Palmitic Aciddecreases phosphorylation, decreases reaction, increases expression, affects cotreatment, decreases expression5
AICA ribonucleotideincreases expression, increases phosphorylation4
Cisplatinaffects expression, decreases expression4
Glucoseaffects cotreatment, increases expression, decreases reaction, increases reaction, increases phosphorylation (+2 more)4
Metformindecreases reaction, increases phosphorylation, decreases expression, increases expression4
sodium arseniteincreases expression, decreases expression, affects cotreatment, increases abundance3
Arsenicincreases abundance, increases expression, affects methylation, affects cotreatment, decreases expression3
Plant Extractsaffects cotreatment, increases expression, increases phosphorylation3
Cyclosporinedecreases expression3
Cadmium Chloridedecreases expression, decreases phosphorylation, increases abundance, increases expression3
nuciferineincreases expression, decreases reaction2
arseniteaffects binding, decreases reaction, increases reaction, increases methylation2
mono-(2-ethylhexyl)phthalateaffects expression, decreases expression2
perfluorooctanoic aciddecreases expression, decreases phosphorylation, increases expression2
caryophylleneaffects reaction, decreases reaction, increases phosphorylation, affects cotreatment, decreases expression2
cordycepindecreases expression2
6,8-diallyl 5,7-dihydroxy 2-(2-allyl 3-hydroxy 4-methoxyphenyl)1-H benzo(b)pyran-4-oneincreases phosphorylation, decreases reaction, increases reaction, decreases activity2
STO 609decreases reaction, increases phosphorylation2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression2
6-(4-chlorophenyl)imidazo(2,1-b)(1,3)thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oximedecreases expression, increases expression, affects cotreatment2
fatostatindecreases phosphorylation, increases reaction, decreases expression, increases response to substance2
bisphenol AFincreases expression2
Sunitinibdecreases phosphorylation, increases expression2

ChEMBL screening assays

71 unique, capped per target: 71 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL1048878BindingInhibition of human recombinant ACC 1 expressed in baculovirus expression system by FAS-coupled assayPotent biphenyl- and 3-phenyl pyridine-based inhibitors of acetyl-CoA carboxylase. — *Bioorg Med Chem Lett*

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

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

CellosaurusNameCategorySex
CVCL_D1V2Abcam A-549 ACACA KOCancer cell lineMale
CVCL_D1ZQAbcam HCT 116 ACACA KOCancer cell lineMale
CVCL_D9X5Ubigene HeLa ACACA KOCancer cell lineFemale
CVCL_SB13HAP1 ACACA (-) 1Cancer cell lineMale
CVCL_SB14HAP1 ACACA (-) 2Cancer cell lineMale

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

51 trials:

NCTPhaseStatusTitle
NCT02562170Phase 4COMPLETEDProtexa® Versus TiLoopBra® in Immediate Breast Reconstruction- A Pilot Study
NCT00673335Phase 3COMPLETEDLetrozole in Preventing Breast Cancer in Postmenopausal Women With a BRCA1 or BRCA2 Mutation
NCT00685256Phase 3COMPLETEDStandard Genetic Counseling With or Without a Decision Guide in Improving Communication Between Mothers Undergoing BRCA1/2 Testing and Their Minor-Age Children
NCT03162276Phase 3UNKNOWNTrial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers
NCT00253539Phase 2COMPLETEDArzoxifene or Tamoxifen in Preventing Breast Cancer in Premenopausal Women at High Risk for Breast Cancer
NCT00305695Phase 2COMPLETEDZoledronate or Observation in Maintaining Bone Mineral Density in Patients Who Are Undergoing Surgery to Remove Both Ovaries
NCT00321633Phase 2COMPLETEDCarboplatin or Docetaxel in Treating Women With Metastatic Genetic Breast Cancer
NCT01333748Phase 2COMPLETEDSearch Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian Cancer
NCT01367639Phase 2COMPLETEDTrial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation Carriers
NCT00535119Phase 1COMPLETEDVeliparib, Carboplatin, and Paclitaxel in Treating Patients With Advanced Solid Cancer
NCT00892736Phase 1COMPLETEDVeliparib in Treating Patients With Malignant Solid Tumors That Do Not Respond to Previous Therapy
NCT03832985Early Phase 1COMPLETEDPediatric Reporting of Adult-Onset Genomic Results
NCT00005095Not specifiedRECRUITINGSpecimen and Data Study for Ovarian Cancer Early Detection and Prevention
NCT00609505Not specifiedCOMPLETEDTelemedicine vs. Face-to-Face Cancer Genetic Counseling
NCT01273909Not specifiedUNKNOWNOutcomes After Perforator Flap Reconstruction for Breast Reconstruction and/or Lymphedema Treatment
NCT01445275Not specifiedWITHDRAWNCost of Cancer Risk Management in Women at Elevated Genetic Risk for Ovarian Cancer Who Participated on GOG-0199
NCT01608074Not specifiedACTIVE_NOT_RECRUITINGRadical Fimbriectomy for Young BRCA Mutation Carriers
NCT02087592Not specifiedCOMPLETEDFeasibility of Lifestyle Intervention in BRCA1/2 Mutation Carriers
NCT02302742Not specifiedRECRUITINGTriple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier Registry
NCT02324062Not specifiedCOMPLETEDCancer Genetics Hereditary Cancer Panel Testing
NCT02516540Not specifiedUNKNOWNEfficacy of Lifestyle Intervention in BRCA1/2 Mutation Carriers
NCT02653105Not specifiedACTIVE_NOT_RECRUITINGWomen at Risk of Breast Cancer and OLFM4
NCT02705924Not specifiedTERMINATEDImpact of a Psychoeducational Intervention on Expectations and Coping in Young Women Exposed to a High HBOC Risk
NCT02760849Not specifiedACTIVE_NOT_RECRUITINGSurgery in Preventing Ovarian Cancer in Patients With Genetic Mutations
NCT02786147Not specifiedCOMPLETEDIdentification and Referral of Women at Risk for Hereditary Breast/Ovarian Cancer
NCT02956681Not specifiedCOMPLETEDStatewide Communication to Reach Diverse Low Income Women
NCT03015376Not specifiedUNKNOWNInherited Susceptible Genes Among Epithelial Ovarian Cancer
NCT03050268Not specifiedRECRUITINGFamilial Investigations of Childhood Cancer Predisposition
NCT03075540Not specifiedCOMPLETEDEnhancing At-risk Latina Women’s Use of Genetic Counseling for Hereditary Breast and Ovarian Cancer
NCT03124212Not specifiedRECRUITINGCascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland
NCT03246841Not specifiedACTIVE_NOT_RECRUITINGInvestigation of Tumour Spectrum of Germline Mutations in Breast and Ovarian Cancer Genes.
NCT03294343Not specifiedUNKNOWNRisk-Reducing Surgeries for Hereditary Ovarian Cancer
NCT03421327Not specifiedCOMPLETEDGenetic Risk: Whether, When, and How to Tell Adolescents
NCT03510689Not specifiedCOMPLETEDGenetics and Heart Health After Cancer Therapy
NCT03511690Not specifiedCOMPLETEDTesting an Intelligent Tutoring System to Enhance Genetic Risk Assessment
NCT03784859Not specifiedCOMPLETEDTissue Expansion in Breast Reconstruction Without Drains
NCT03979612Not specifiedUNKNOWNEvaluation of the Adhesion to the GENEPY Network
NCT04197856Not specifiedUNKNOWNDirect Information to At-risk Relatives
NCT04407611Not specifiedCOMPLETEDScalable Communication Modalities for Returning Genetic Research Results
NCT04508764Not specifiedTERMINATEDImplementation of the Families Accelerating Cascade Testing Toolkit (FACTT) for Hereditary Breast and Ovarian Cancer and Lynch Syndrome
NCT04544501Not specifiedCOMPLETEDEnhance the Use of Genetic Counseling and Testing in Latinas
NCT04668521Not specifiedTERMINATEDMultifactorial Risk Assessment for Breast & Ovarian Cancer Risk Detection
NCT05130606Not specifiedRECRUITINGCONTIGO - A Narrative Intervention to Enhance Genetic Counseling and Testing
NCT05306002Not specifiedCOMPLETEDNutritional Intervention and DNA Damage of Patients With HBOC
NCT05409222Not specifiedUNKNOWNStudy of Quality of Life Post Salpingo-oophorectomy in BRCA1/2 & PALB2 Mutation Carriers (BRCA-HRT)
NCT05677048Not specifiedACTIVE_NOT_RECRUITINGFeasibility Study: IGNITE-TX (Identifying Individuals for Genetic Testing & Treatment) Intervention
NCT05721326Not specifiedCOMPLETEDSequential EHR Based Interventions to Increase Genetic Testing for Breast and Ovarian Cancer Predisposition
NCT06892275Not specifiedRECRUITINGThe FYI on MRI: A Multilevel Decision Support Intervention for Screening Breast MRI
NCT06914726Not specifiedENROLLING_BY_INVITATIONPatient Centered Clinical Decision Support for Hereditary Cancer Syndromes
NCT07039552Not specifiedRECRUITINGDevelopment and Validation of an Ovarian Cancer Risk Prediction Model for Family Members of Ovarian Cancer Probands
NCT07236359Not specifiedNOT_YET_RECRUITINGEvaluation of Well Being and Patient Reported Outcomes After Robotic Single-port Nipple Sparing Mastectomy and Implant Reconstruction

Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for ACACA across ~30M SureChEMBL compounds — explore on Sugi Predict.