Details for: ACAT1

Gene ID: 38

Symbol: ACAT1

Ensembl ID: ENSG00000075239

Description: acetyl-CoA acetyltransferase 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 229.7081
    Cell Significance Index: -35.7300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 167.4398
    Cell Significance Index: -42.4700
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 105.0363
    Cell Significance Index: -49.5900
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 91.4976
    Cell Significance Index: -47.0700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 37.9738
    Cell Significance Index: -46.8200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 15.1408
    Cell Significance Index: -40.5600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 12.3769
    Cell Significance Index: -48.8400
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 9.2594
    Cell Significance Index: -20.2700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 2.9291
    Cell Significance Index: 842.7800
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 1.9097
    Cell Significance Index: 20.2900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.8581
    Cell Significance Index: 111.5500
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.6928
    Cell Significance Index: 28.5200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.5322
    Cell Significance Index: 71.4400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.5284
    Cell Significance Index: 1380.0100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.3646
    Cell Significance Index: 273.7300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.0539
    Cell Significance Index: 80.8800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.8407
    Cell Significance Index: 97.9800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.8191
    Cell Significance Index: 112.4800
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 0.7952
    Cell Significance Index: 3.0400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.7928
    Cell Significance Index: 21.5800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.7452
    Cell Significance Index: 267.3100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.7380
    Cell Significance Index: 146.4600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.6903
    Cell Significance Index: 47.7400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.5990
    Cell Significance Index: 76.7900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.5977
    Cell Significance Index: 27.0900
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.5778
    Cell Significance Index: 8.5300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.5641
    Cell Significance Index: 96.3300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.5496
    Cell Significance Index: 380.1500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5460
    Cell Significance Index: 88.8000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.5087
    Cell Significance Index: 224.9000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.4553
    Cell Significance Index: 248.6400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.4160
    Cell Significance Index: 10.9400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3795
    Cell Significance Index: 72.2200
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.3557
    Cell Significance Index: 8.6800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.3518
    Cell Significance Index: 24.8800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.3476
    Cell Significance Index: 18.2500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.3405
    Cell Significance Index: 44.0000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3134
    Cell Significance Index: 9.0300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.3095
    Cell Significance Index: 19.9700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.2718
    Cell Significance Index: 20.2600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2570
    Cell Significance Index: 46.3300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2208
    Cell Significance Index: 27.1500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.1898
    Cell Significance Index: 139.1800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1713
    Cell Significance Index: 322.5500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1590
    Cell Significance Index: 100.9900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1501
    Cell Significance Index: 4.2000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.0845
    Cell Significance Index: 1.6500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0640
    Cell Significance Index: 3.9400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.0609
    Cell Significance Index: 1.7900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0366
    Cell Significance Index: 56.3900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0313
    Cell Significance Index: 57.8100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0230
    Cell Significance Index: 2.7100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 0.0219
    Cell Significance Index: 1.7400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0129
    Cell Significance Index: 9.7800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0089
    Cell Significance Index: 4.0300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0054
    Cell Significance Index: 0.1500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0008
    Cell Significance Index: 1.1500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0005
    Cell Significance Index: 0.0500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0103
    Cell Significance Index: -7.6600
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.0127
    Cell Significance Index: -0.1900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0171
    Cell Significance Index: -10.7100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0470
    Cell Significance Index: -4.8100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0499
    Cell Significance Index: -28.1200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0697
    Cell Significance Index: -4.3900
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0725
    Cell Significance Index: -1.0700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0769
    Cell Significance Index: -1.6100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1357
    Cell Significance Index: -28.5800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1418
    Cell Significance Index: -3.0300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1482
    Cell Significance Index: -21.5400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1541
    Cell Significance Index: -2.6400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1657
    Cell Significance Index: -7.7900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1722
    Cell Significance Index: -6.0500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1878
    Cell Significance Index: -4.0000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1950
    Cell Significance Index: -13.1100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2546
    Cell Significance Index: -11.2600
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2569
    Cell Significance Index: -4.3000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2693
    Cell Significance Index: -30.8500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3019
    Cell Significance Index: -16.9400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3188
    Cell Significance Index: -10.2100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3338
    Cell Significance Index: -12.6400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.3650
    Cell Significance Index: -41.6700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3796
    Cell Significance Index: -39.5300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.4837
    Cell Significance Index: -12.9200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4937
    Cell Significance Index: -30.2700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.5256
    Cell Significance Index: -13.5100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.5486
    Cell Significance Index: -19.0700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.5748
    Cell Significance Index: -29.8600
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.6187
    Cell Significance Index: -4.7300
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.6502
    Cell Significance Index: -16.6100
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.7195
    Cell Significance Index: -9.7100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.7302
    Cell Significance Index: -8.7100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.8121
    Cell Significance Index: -20.3000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.8348
    Cell Significance Index: -18.0900
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.8352
    Cell Significance Index: -20.0300
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.8500
    Cell Significance Index: -9.2600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.8697
    Cell Significance Index: -24.9300
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.8698
    Cell Significance Index: -6.9500
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.8900
    Cell Significance Index: -6.0300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.9627
    Cell Significance Index: -21.0800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.9714
    Cell Significance Index: -25.9900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** ACAT1 is a mitochondrial enzyme that catalyzes the transfer of an acetyl group from acetyl-CoA to a variety of acceptors, including cholesterol, fatty acids, and branched-chain amino acids. This enzyme plays a pivotal role in the regulation of lipid metabolism, energy production, and the synthesis of ketone bodies. ACAT1 is highly expressed in various tissues, including the liver, kidney, and heart, where it is involved in the regulation of lipid metabolism and energy homeostasis. **Pathways and Functions:** ACAT1 is involved in several key metabolic pathways, including: 1. **Acetyl-CoA biosynthetic process**: ACAT1 is essential for the production of acetyl-CoA, a crucial molecule in energy production and lipid metabolism. 2. **Acetyl-CoA catabolic process**: ACAT1 is involved in the breakdown of acetyl-CoA, which is a key step in the regulation of energy homeostasis and lipid metabolism. 3. **Cholesterol o-acyltransferase activity**: ACAT1 is responsible for the transfer of an acetyl group to cholesterol, resulting in the formation of cholesteryl esters. 4. **Fatty acid beta-oxidation**: ACAT1 is involved in the regulation of fatty acid metabolism by facilitating the breakdown of fatty acids into acetyl-CoA. 5. **Ketone body metabolism**: ACAT1 plays a crucial role in the synthesis and degradation of ketone bodies, which are essential energy sources for the brain and other tissues during periods of fasting or starvation. **Clinical Significance:** Dysregulation of ACAT1 has been implicated in various diseases, including: 1. **Atherosclerosis**: Elevated levels of ACAT1 have been linked to the development of atherosclerosis, a condition characterized by the buildup of fatty deposits in the arteries. 2. **Type 2 diabetes**: ACAT1 has been shown to play a role in the regulation of lipid metabolism and energy homeostasis, making it a potential target for the treatment of type 2 diabetes. 3. **Metabolic syndrome**: ACAT1 has been implicated in the development of metabolic syndrome, a condition characterized by a cluster of metabolic disorders, including insulin resistance, hypertension, and dyslipidemia. 4. **Cancer**: ACAT1 has been shown to be overexpressed in certain types of cancer, including breast and prostate cancer, suggesting its potential role in tumorigenesis. In conclusion, ACAT1 is a critical enzyme involved in various metabolic pathways, including the biosynthesis and catabolism of acetyl-CoA, cholesterol, and fatty acids. Its dysregulation has been implicated in various diseases, highlighting its potential as a therapeutic target for the treatment of metabolic disorders and cancer.

Genular Protein ID: 1392780767

Symbol: THIL_HUMAN

Name: Acetyl-CoA acetyltransferase, mitochondrial

UniProtKB Accession Codes:

Database IDs:

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.