Details for: OXCT1

Gene ID: 5019

Symbol: OXCT1

Ensembl ID: ENSG00000083720

Description: 3-oxoacid CoA-transferase 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: 178.5976
    Cell Significance Index: -27.7800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 116.1473
    Cell Significance Index: -29.4600
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 75.4708
    Cell Significance Index: -31.0900
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 69.8124
    Cell Significance Index: -32.9600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 66.2881
    Cell Significance Index: -26.9300
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 49.2309
    Cell Significance Index: -33.0400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 28.5627
    Cell Significance Index: -27.2700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 26.1242
    Cell Significance Index: -32.2100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 11.4470
    Cell Significance Index: -30.6700
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 8.6506
    Cell Significance Index: -26.5700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 8.3653
    Cell Significance Index: -33.0100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 7.6168
    Cell Significance Index: -16.6700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.0331
    Cell Significance Index: 407.8300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.5675
    Cell Significance Index: 120.2900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.2841
    Cell Significance Index: 17.5200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.2077
    Cell Significance Index: 433.1900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.9983
    Cell Significance Index: 56.0200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.8573
    Cell Significance Index: 24.4700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.8250
    Cell Significance Index: 163.7200
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.7901
    Cell Significance Index: 9.8000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.7421
    Cell Significance Index: 20.7400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.7341
    Cell Significance Index: 32.4700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7216
    Cell Significance Index: 78.4900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.7119
    Cell Significance Index: 26.9600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7050
    Cell Significance Index: 114.6600
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.7024
    Cell Significance Index: 10.3700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.6909
    Cell Significance Index: 477.8400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6879
    Cell Significance Index: 621.1000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.6269
    Cell Significance Index: 38.5300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.6097
    Cell Significance Index: 13.3500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.4845
    Cell Significance Index: 56.4600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.4194
    Cell Significance Index: 49.4600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.3608
    Cell Significance Index: 46.2500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.3605
    Cell Significance Index: 22.7200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.3279
    Cell Significance Index: 22.0500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.2420
    Cell Significance Index: 6.2200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2352
    Cell Significance Index: 16.2700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.2252
    Cell Significance Index: 5.4000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.2112
    Cell Significance Index: 9.8500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.2025
    Cell Significance Index: 10.6300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1977
    Cell Significance Index: 372.3000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1926
    Cell Significance Index: 3.3000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1529
    Cell Significance Index: 97.1000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1483
    Cell Significance Index: 28.2200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1408
    Cell Significance Index: 19.3400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1382
    Cell Significance Index: 13.6700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1282
    Cell Significance Index: 56.6600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.1080
    Cell Significance Index: 166.2000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.1038
    Cell Significance Index: 47.1100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0968
    Cell Significance Index: 2.4200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0941
    Cell Significance Index: 69.0100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0498
    Cell Significance Index: 91.8300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0082
    Cell Significance Index: 11.1200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0008
    Cell Significance Index: 0.4300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0026
    Cell Significance Index: -0.2700
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0102
    Cell Significance Index: -0.3000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0104
    Cell Significance Index: -1.3500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0119
    Cell Significance Index: -7.4100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0143
    Cell Significance Index: -8.0600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0160
    Cell Significance Index: -0.4600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0164
    Cell Significance Index: -2.3800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0188
    Cell Significance Index: -13.9600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0272
    Cell Significance Index: -4.9000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0330
    Cell Significance Index: -25.0000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0336
    Cell Significance Index: -5.7300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0338
    Cell Significance Index: -4.1600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0415
    Cell Significance Index: -0.9000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0577
    Cell Significance Index: -2.7100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0708
    Cell Significance Index: -3.2100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0773
    Cell Significance Index: -1.6400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0840
    Cell Significance Index: -5.4200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0848
    Cell Significance Index: -17.8700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0951
    Cell Significance Index: -27.3700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1155
    Cell Significance Index: -11.8000
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.1387
    Cell Significance Index: -0.9400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1413
    Cell Significance Index: -3.0100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1648
    Cell Significance Index: -13.0500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1772
    Cell Significance Index: -12.5400
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.1864
    Cell Significance Index: -2.2200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2001
    Cell Significance Index: -6.4100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2300
    Cell Significance Index: -26.3500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2655
    Cell Significance Index: -19.7900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2902
    Cell Significance Index: -33.1300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3019
    Cell Significance Index: -18.5100
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: -0.3240
    Cell Significance Index: -2.6800
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.3337
    Cell Significance Index: -4.7500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3385
    Cell Significance Index: -9.9700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3580
    Cell Significance Index: -18.6500
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.3680
    Cell Significance Index: -5.2700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.3729
    Cell Significance Index: -6.2400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3794
    Cell Significance Index: -12.4200
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.3865
    Cell Significance Index: -7.7600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.3889
    Cell Significance Index: -7.5900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4198
    Cell Significance Index: -13.3700
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.4273
    Cell Significance Index: -8.4500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.4371
    Cell Significance Index: -9.1500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.4445
    Cell Significance Index: -12.1000
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.4890
    Cell Significance Index: -10.5700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.4930
    Cell Significance Index: -17.1300
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.5081
    Cell Significance Index: -12.9800

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:** OXCT1 is a mitochondrial enzyme that exhibits high substrate specificity for 3-oxoacids, such as acetoacetate and β-hydroxybutyrate, which are the primary ketone bodies produced by the liver. The enzyme is highly expressed in cells that require high energy substrates, including the brain, kidney, and liver. Notably, OXCT1 is also expressed in neurons, where it plays a critical role in maintaining energy homeostasis during periods of low glucose availability. **Pathways and Functions:** OXCT1 is integral to the ketone body catabolic process, which involves the breakdown of ketone bodies to produce energy. The enzyme's primary function is to facilitate the transfer of 3-oxoacids to CoA, which is then converted to acetyl-CoA, a key intermediate in fatty acid oxidation. This process occurs in the mitochondrial matrix, where OXCT1 interacts with other enzymes, such as succinyl-CoA:3-oxo-acid CoA-transferase (SCOT), to regulate energy metabolism. In addition to its role in ketone body metabolism, OXCT1 has been implicated in other cellular processes, including: 1. **Mitochondrial protein degradation**: OXCT1 has been shown to interact with the mitochondrial ubiquitin ligase system, which regulates the degradation of mitochondrial proteins. 2. **Amino acid metabolism**: OXCT1 has been implicated in the regulation of amino acid metabolism, particularly in the context of glutamine and glutamate metabolism. 3. **Stress response**: OXCT1 has been shown to be upregulated in response to stress, including hypoxia and nutrient deprivation. **Clinical Significance:** Dysregulation of OXCT1 has been implicated in various diseases, including: 1. **Ketogenic disorders**: Mutations in the OXCT1 gene have been associated with ketogenic disorders, such as Hartnup disease, which is characterized by impaired ketone body metabolism. 2. **Mitochondrial disorders**: OXCT1 has been implicated in the pathogenesis of mitochondrial disorders, such as MELAS syndrome, which is characterized by impaired energy metabolism. 3. **Neurodegenerative diseases**: OXCT1 has been implicated in the regulation of energy metabolism in the brain, and dysregulation of OXCT1 has been associated with neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. 4. **Cancer**: OXCT1 has been shown to be upregulated in certain types of cancer, including glioblastoma, suggesting a potential role in cancer metabolism. In conclusion, OXCT1 is a critical enzyme involved in the catabolism of ketone bodies, which are an alternative energy source for the brain and other tissues during periods of low glucose availability. Dysregulation of OXCT1 has been implicated in various diseases, including ketogenic disorders, mitochondrial disorders, neurodegenerative diseases, and cancer. Further research is needed to fully elucidate the role of OXCT1 in human disease and to explore its potential as a therapeutic target.

Genular Protein ID: 1644384793

Symbol: SCOT1_HUMAN

Name: 3-oxoacid CoA-transferase 1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8751852

Title: Succinyl CoA:3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient.

PubMed ID: 8751852

PubMed ID: 10964512

Title: Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations.

PubMed ID: 10964512

DOI: 10.1006/geno.2000.6282

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 9380443

Title: Enzymes of ketone body utilization in human tissues: protein and messenger RNA levels of succinyl-coenzyme A (CoA):3-ketoacid CoA transferase and mitochondrial and cytosolic acetoacetyl-CoA thiolases.

PubMed ID: 9380443

DOI: 10.1203/00006450-199710000-00013

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: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 23420214

Title: A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.

PubMed ID: 23420214

DOI: 10.1007/s10545-013-9589-z

PubMed ID: 9671268

Title: Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings.

PubMed ID: 9671268

DOI: 10.1002/(sici)1098-1004(1998)12:2<83::aid-humu2>3.0.co;2-p

PubMed ID: 21296660

Title: Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.

PubMed ID: 21296660

DOI: 10.1016/j.bbadis.2011.01.015

PubMed ID: 31073471

Title: A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the OXCT1 Gene.

PubMed ID: 31073471

DOI: 10.1055/s-0037-1604270

PubMed ID: 33596448

Title: Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.

PubMed ID: 33596448

DOI: 10.1016/j.biochi.2021.02.003

Sequence Information:

  • Length: 520
  • Mass: 56158
  • Checksum: 54DA790FB8EDA546
  • Sequence:
  • MAALKLLSSG LRLCASARGS GATWYKGCVC SFSTSAHRHT KFYTDPVEAV KDIPDGATVL 
    VGGFGLCGIP ENLIDALLKT GVKGLTAVSN NAGVDNFGLG LLLRSKQIKR MVSSYVGENA 
    EFERQYLSGE LEVELTPQGT LAERIRAGGA GVPAFYTPTG YGTLVQEGGS PIKYNKDGSV 
    AIASKPREVR EFNGQHFILE EAITGDFALV KAWKADRAGN VIFRKSARNF NLPMCKAAET 
    TVVEVEEIVD IGAFAPEDIH IPQIYVHRLI KGEKYEKRIE RLSIRKEGDG EAKSAKPGDD 
    VRERIIKRAA LEFEDGMYAN LGIGIPLLAS NFISPNITVH LQSENGVLGL GPYPRQHEAD 
    ADLINAGKET VTILPGASFF SSDESFAMIR GGHVDLTMLG AMQVSKYGDL ANWMIPGKMV 
    KGMGGAMDLV SSAKTKVVVT MEHSAKGNAH KIMEKCTLPL TGKQCVNRII TEKAVFDVDK 
    KKGLTLIELW EGLTVDDVQK STGCDFAVSP KLMPMQQIAN

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.