Details for: ATP5F1E

Gene ID: 514

Symbol: ATP5F1E

Ensembl ID: ENSG00000124172

Description: ATP synthase F1 subunit epsilon

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: embryonic stem cell (CL0002322)
    Fold Change: 582.4042
    Cell Significance Index: -239.9200
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 490.2328
    Cell Significance Index: -231.4500
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 446.2609
    Cell Significance Index: -229.5500
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 346.3075
    Cell Significance Index: -232.3800
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 55.5372
    Cell Significance Index: -170.5800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 46.3705
    Cell Significance Index: -124.2200
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 34.6388
    Cell Significance Index: -75.8100
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 12.8212
    Cell Significance Index: 236.9700
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 6.9253
    Cell Significance Index: 78.6800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 6.6253
    Cell Significance Index: 1194.3300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 6.3415
    Cell Significance Index: 779.7500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 5.5575
    Cell Significance Index: 3035.0700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 5.5430
    Cell Significance Index: 258.4400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 5.2124
    Cell Significance Index: 715.8100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 5.1277
    Cell Significance Index: 604.7100
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 4.5750
    Cell Significance Index: 42.1300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 4.1306
    Cell Significance Index: 86.4600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 3.9888
    Cell Significance Index: 1763.5300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 3.9028
    Cell Significance Index: 204.9100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 3.8958
    Cell Significance Index: 290.3500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 3.8810
    Cell Significance Index: 274.4800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 3.8540
    Cell Significance Index: 101.3400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 3.8055
    Cell Significance Index: 491.6400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 3.6524
    Cell Significance Index: 171.6600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 3.6490
    Cell Significance Index: 467.7800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 3.1275
    Cell Significance Index: 91.8500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 3.0026
    Cell Significance Index: 193.7200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 2.8201
    Cell Significance Index: 76.7600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.2084
    Cell Significance Index: 438.2700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.7727
    Cell Significance Index: 175.3600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.3699
    Cell Significance Index: 62.1000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.3523
    Cell Significance Index: 70.2500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.2641
    Cell Significance Index: 36.2400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 1.2071
    Cell Significance Index: 913.6600
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 1.1696
    Cell Significance Index: 12.7200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.9254
    Cell Significance Index: 678.5000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.7733
    Cell Significance Index: 147.1600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5906
    Cell Significance Index: 96.0600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 0.5254
    Cell Significance Index: 41.6100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3541
    Cell Significance Index: 38.5200
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.3259
    Cell Significance Index: 5.4900
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.1675
    Cell Significance Index: 2.9600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.1447
    Cell Significance Index: 5.0300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0125
    Cell Significance Index: 2.5000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0525
    Cell Significance Index: -5.3600
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0705
    Cell Significance Index: -1.1800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0841
    Cell Significance Index: -158.3900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1028
    Cell Significance Index: -2.7500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.1440
    Cell Significance Index: -265.5000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.1726
    Cell Significance Index: -265.6400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.2059
    Cell Significance Index: -280.0300
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.2107
    Cell Significance Index: -8.6300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.2264
    Cell Significance Index: -81.2200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.2345
    Cell Significance Index: -11.8500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.2387
    Cell Significance Index: -176.8100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.2787
    Cell Significance Index: -177.0100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.3621
    Cell Significance Index: -204.1900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.3661
    Cell Significance Index: -62.5200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.4158
    Cell Significance Index: -188.7000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.4857
    Cell Significance Index: -303.2800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.6322
    Cell Significance Index: -181.9100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.9459
    Cell Significance Index: -58.1400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -1.0610
    Cell Significance Index: -121.5500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -1.0876
    Cell Significance Index: -68.5500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -1.1842
    Cell Significance Index: -249.4200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -1.3881
    Cell Significance Index: -201.7700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -1.4663
    Cell Significance Index: -170.8800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -1.4861
    Cell Significance Index: -52.2200
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -1.6457
    Cell Significance Index: -24.6600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -1.6728
    Cell Significance Index: -36.2400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -1.7161
    Cell Significance Index: -43.8400
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: -1.9318
    Cell Significance Index: -16.6000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -2.0936
    Cell Significance Index: -58.5100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -2.1053
    Cell Significance Index: -126.3900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -2.1370
    Cell Significance Index: -68.4500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -2.1623
    Cell Significance Index: -225.1500
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -2.3963
    Cell Significance Index: -41.3100
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -2.4348
    Cell Significance Index: -19.4400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -2.4538
    Cell Significance Index: -70.7000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -2.5624
    Cell Significance Index: -196.6400
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -2.6060
    Cell Significance Index: -31.0700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -3.0311
    Cell Significance Index: -170.0900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -3.7955
    Cell Significance Index: -232.7000
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -3.8351
    Cell Significance Index: -49.1200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -4.4731
    Cell Significance Index: -61.0300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -4.7942
    Cell Significance Index: -141.2100
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -5.1783
    Cell Significance Index: -190.0900
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -5.2352
    Cell Significance Index: -31.6300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -5.2599
    Cell Significance Index: -232.6600
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -5.2671
    Cell Significance Index: -81.4900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -5.9572
    Cell Significance Index: -102.0900
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -6.1625
    Cell Significance Index: -47.5000
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: -6.1868
    Cell Significance Index: -129.0300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -6.2553
    Cell Significance Index: -160.7900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -6.3477
    Cell Significance Index: -240.3700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -6.7264
    Cell Significance Index: -235.6400
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -6.7823
    Cell Significance Index: -56.9700
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -6.8634
    Cell Significance Index: -71.0500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -6.8919
    Cell Significance Index: -225.6400
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -6.9590
    Cell Significance Index: -173.8100

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:** 1. **Subunit structure:** ATP5F1E is a component of the F1 subunit of the mitochondrial proton-transporting ATP synthase complex. 2. **Catalytic function:** The epsilon subunit facilitates the rotation of the stalk subunits, enabling the synthesis of ATP through chemiosmosis. 3. **Expression pattern:** ATP5F1E is highly expressed in various tissues, including skeletal muscle, immune cells, epithelial cells, and hematopoietic stem cells. 4. **Cellular localization:** The enzyme is predominantly found in the mitochondrial matrix and inner membrane. **Pathways and Functions:** 1. **Chemiosmosis:** ATP5F1E plays a crucial role in the chemiosmotic process, where the PMF is harnessed to produce ATP. 2. **Mitochondrial biogenesis:** The epsilon subunit is involved in the regulation of mitochondrial biogenesis and maintenance. 3. **Proton transport:** ATP5F1E facilitates the transport of protons across the mitochondrial inner membrane, contributing to the PMF. 4. **Energy metabolism:** The enzyme is essential for maintaining cellular energy homeostasis by regulating ATP production and utilization. **Clinical Significance:** 1. **Mitochondrial disorders:** Mutations in the ATP5F1E gene have been linked to mitochondrial disorders, such as Kearns-Sayre syndrome and MERRF syndrome. 2. **Neurodegenerative diseases:** Alterations in ATP5F1E expression have been implicated in neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease. 3. **Cancer:** Changes in ATP5F1E expression have been observed in various types of cancer, suggesting its potential role in tumorigenesis. 4. **Metabolic disorders:** The epsilon subunit may play a role in regulating metabolic disorders, such as type 2 diabetes and obesity, by influencing energy metabolism and insulin signaling pathways. In conclusion, ATP5F1E is a critical enzyme involved in the regulation of mitochondrial energy metabolism and cellular homeostasis. Its dysregulation has been linked to various diseases, highlighting the importance of this gene in human health and disease. Further research is needed to elucidate the full extent of its clinical significance and potential therapeutic applications.

Genular Protein ID: 628744576

Symbol: ATP5E_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 10727396

Title: Cloning, characterization and mapping of the human ATP5E gene, identification of pseudogene ATP5EP1, and definition of the ATP5E motif.

PubMed ID: 10727396

DOI: 10.1042/bj3470017

PubMed ID: 10931946

Title: Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning.

PubMed ID: 10931946

DOI: 10.1073/pnas.160270997

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

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: 19608861

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

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 20566710

Title: Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.

PubMed ID: 20566710

DOI: 10.1093/hmg/ddq254

PubMed ID: 34954817

Title: Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.

PubMed ID: 34954817

DOI: 10.1002/ana.26293

Sequence Information:

  • Length: 51
  • Mass: 5780
  • Checksum: C3E8FDA7C9191CA4
  • Sequence:
  • MVAYWRQAGL SYIRYSQICA KAVRDALKTE FKANAEKTSG SNVKIVKVKK E

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.