Details for: ACAT1

Gene ID: 38

Symbol: ACAT1

Ensembl ID: ENSG00000075239

Description: acetyl-CoA acetyltransferase 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 2.89
    Marker Score: 1539
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 2.86
    Marker Score: 4750
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 2.67
    Marker Score: 9479.5
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 2.36
    Marker Score: 6337
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 2.11
    Marker Score: 47203
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 2.07
    Marker Score: 4707
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 2
    Marker Score: 5049
  • Cell Name: oocyte (CL0000023)
    Fold Change: 1.93
    Marker Score: 476
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.79
    Marker Score: 1901
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.77
    Marker Score: 9533.5
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.73
    Marker Score: 7477
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.71
    Marker Score: 1162
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 1.71
    Marker Score: 1784
  • Cell Name: serous secreting cell (CL0000313)
    Fold Change: 1.62
    Marker Score: 645
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.61
    Marker Score: 10367
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.59
    Marker Score: 6671
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.59
    Marker Score: 6874
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.56
    Marker Score: 3283
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.55
    Marker Score: 453
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.55
    Marker Score: 15962
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.54
    Marker Score: 10034
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 1.52
    Marker Score: 638
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.48
    Marker Score: 54622
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.46
    Marker Score: 4594
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.45
    Marker Score: 166409
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.45
    Marker Score: 89190
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.42
    Marker Score: 2007
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 1.41
    Marker Score: 2650
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 1.4
    Marker Score: 1047
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.39
    Marker Score: 11969.5
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.38
    Marker Score: 13015
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.38
    Marker Score: 2218.5
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.37
    Marker Score: 12978
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.35
    Marker Score: 51190
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.34
    Marker Score: 2073
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.3
    Marker Score: 5026
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.29
    Marker Score: 712
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.29
    Marker Score: 25684
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 1.29
    Marker Score: 2051
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.29
    Marker Score: 5373
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.27
    Marker Score: 1691
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.27
    Marker Score: 5256
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.25
    Marker Score: 623
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.24
    Marker Score: 825
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 1.23
    Marker Score: 582
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.22
    Marker Score: 3061
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.22
    Marker Score: 18253
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 1.22
    Marker Score: 31123
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.21
    Marker Score: 1226
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.19
    Marker Score: 10255.5
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 1.19
    Marker Score: 10322
  • Cell Name: ventricular cardiac muscle cell (CL2000046)
    Fold Change: 1.18
    Marker Score: 491
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.18
    Marker Score: 9037
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.17
    Marker Score: 580
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.17
    Marker Score: 1216
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.17
    Marker Score: 4755
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.17
    Marker Score: 1258
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 1.15
    Marker Score: 388
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 1.15
    Marker Score: 285
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.15
    Marker Score: 1150
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.15
    Marker Score: 481
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 1.14
    Marker Score: 894
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.14
    Marker Score: 1276
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.12
    Marker Score: 767
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.12
    Marker Score: 17455
  • Cell Name: neural cell (CL0002319)
    Fold Change: 1.11
    Marker Score: 537
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 1.11
    Marker Score: 2520
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 1.1
    Marker Score: 385
  • Cell Name: pulmonary artery endothelial cell (CL1001568)
    Fold Change: 1.1
    Marker Score: 950
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.1
    Marker Score: 1374
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.1
    Marker Score: 5274
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 1.1
    Marker Score: 2867
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.09
    Marker Score: 6980.5
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.09
    Marker Score: 2392.5
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 1.08
    Marker Score: 249
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.08
    Marker Score: 10857
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.08
    Marker Score: 989.5
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.08
    Marker Score: 1547
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 1.07
    Marker Score: 704
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1.07
    Marker Score: 563.5
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 1.07
    Marker Score: 352
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 1.07
    Marker Score: 958
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 1.06
    Marker Score: 2023
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.05
    Marker Score: 999
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 1.04
    Marker Score: 2081
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.04
    Marker Score: 2823
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.03
    Marker Score: 242
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.03
    Marker Score: 11570
  • Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
    Fold Change: 1.02
    Marker Score: 1483.5
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 1.02
    Marker Score: 1023.5
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.02
    Marker Score: 2076
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.02
    Marker Score: 494
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 1.01
    Marker Score: 378
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.01
    Marker Score: 472
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1
    Marker Score: 16126
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 1
    Marker Score: 1072
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1
    Marker Score: 1079.5
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1
    Marker Score: 558
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71602
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47827

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Other Information

**Key characteristics:** - It is a single-exon gene with a single protein product. - It is located on chromosome 15q21.1. - It is a highly conserved gene with a high degree of sequence homology between species. - It is involved in multiple metabolic pathways, including the acetyl-CoA biosynthetic process, cholesterol o-acyltransferase activity, and liver development. **Pathways and functions:** - The ACAT1 gene is involved in the following pathways: - Acetyl-CoA biosynthetic process - Acetyl-CoA c-acetyltransferase activity - Branched-chain amino acid catabolism - C-acetyltransferase activity - Cholesterol o-acyltransferase activity - Coenzyme a binding - Enzyme binding - Identical protein binding - Ketone body metabolism - Metabolism of amino acids and derivatives - Metabolism of lipids - Metabolism of proteins - Mitochondrial protein degradation - Potassium ion binding - It is involved in the regulation of blood glucose metabolism, cholesterol homeostasis, and liver function. **Clinical significance:** - Mutations in the ACAT1 gene have been linked to several human diseases, including hyperglycemia, hyperlipidemia, and fatty liver disease. - ACAT1 inhibitors are being investigated as potential therapeutic agents for these diseases. - Understanding the role of ACAT1 in human health and disease is important for the development of new diagnostic and therapeutic strategies.

Genular Protein ID: 1392780767

Symbol: THIL_HUMAN

Name: Acetyl-CoA acetyltransferase, mitochondrial

UniProtKB Accession Codes:

P24752 B2R6H1 G3XAB4 Q96FG8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 16 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 4 DrugCentral 1 EC 1 EMBL 7 EPD 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 26 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 8 PDBsum 7 PIR 1 PIRSF 1 PRO 1 PROSITE 3 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 3 RefSeq 1 Rhea 6 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 UCD-2DPAGE 1 UCSC 1 UniPathway 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1979337

Title: Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency.

PubMed ID: 1979337

DOI: 10.1172/jci114946

PubMed ID: 1684944

Title: Structure and expression of the human mitochondrial acetoacetyl-CoA thiolase-encoding gene.

PubMed ID: 1684944

DOI: 10.1016/0378-1119(91)90623-j

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15242332

Title: Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes.

PubMed ID: 15242332

DOI: 10.1042/bj20040647

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 17371050

Title: Crystallographic and kinetic studies of human mitochondrial acetoacetyl-CoA thiolase: the importance of potassium and chloride ions for its structure and function.

PubMed ID: 17371050

DOI: 10.1021/bi6026192

PubMed ID: 7749408

Title: Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene.

PubMed ID: 7749408

DOI: 10.1002/humu.1380050203

PubMed ID: 1346617

Title: Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency.

PubMed ID: 1346617

DOI: 10.1172/jci115608

PubMed ID: 1715688

Title: Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency.

PubMed ID: 1715688

DOI: 10.1016/0006-291x(91)91343-b

PubMed ID: 7728148

Title: Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients.

PubMed ID: 7728148

DOI: 10.1002/humu.1380050105

PubMed ID: 9744475

Title: Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency.

PubMed ID: 9744475

DOI: 10.1002/(sici)1098-1004(1998)12:4<245::aid-humu5>3.0.co;2-e

Sequence Information:

  • Length: 427
  • Mass: 45200
  • Checksum: 2E81168EB39D0142
  • Sequence:
    • MAVLAALLRS GARSRSPLLR RLVQEIRYVE RSYVSKPTLK EVVIVSATRT PIGSFLGSLS 
LLPATKLGSI AIQGAIEKAG IPKEEVKEAY MGNVLQGGEG QAPTRQAVLG AGLPISTPCT 
TINKVCASGM KAIMMASQSL MCGHQDVMVA GGMESMSNVP YVMNRGSTPY GGVKLEDLIV 
KDGLTDVYNK IHMGSCAENT AKKLNIARNE QDAYAINSYT RSKAAWEAGK FGNEVIPVTV 
TVKGQPDVVV KEDEEYKRVD FSKVPKLKTV FQKENGTVTA ANASTLNDGA AALVLMTADA 
AKRLNVTPLA RIVAFADAAV EPIDFPIAPV YAASMVLKDV GLKKEDIAMW EVNEAFSLVV 
LANIKMLEID PQKVNINGGA VSLGHPIGMS GARIVGHLTH ALKQGEYGLA SICNGGGGAS 
AMLIQKL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.