Details for: ATP5F1E

Gene ID: 514

Symbol: ATP5F1E

Ensembl ID: ENSG00000124172

Description: ATP synthase F1 subunit epsilon

Associated with

  • Cristae formation
    (R-HSA-8949613)
  • Formation of atp by chemiosmotic coupling
    (R-HSA-163210)
  • Metabolism
    (R-HSA-1430728)
  • Mitochondrial biogenesis
    (R-HSA-1592230)
  • Organelle biogenesis and maintenance
    (R-HSA-1852241)
  • Respiratory electron transport, atp synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    (R-HSA-163200)
  • The citric acid (tca) cycle and respiratory electron transport
    (R-HSA-1428517)
  • Hydrolase activity
    (GO:0016787)
  • Mitochondrial inner membrane
    (GO:0005743)
  • Mitochondrial matrix
    (GO:0005759)
  • Mitochondrial proton-transporting atp synthase complex
    (GO:0005753)
  • Mitochondrial proton-transporting atp synthase complex, catalytic sector f(1)
    (GO:0000275)
  • Protein binding
    (GO:0005515)
  • Proton-transporting atp synthase activity, rotational mechanism
    (GO:0046933)
  • Proton motive force-driven atp synthesis
    (GO:0015986)
  • Proton motive force-driven mitochondrial atp synthesis
    (GO:0042776)
  • Proton transmembrane transport
    (GO:1902600)

Cells (max top 100)

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

  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 8.1
    Marker Score: 5416
  • Cell Name: follicular B cell (CL0000843)
    Fold Change: 7.79
    Marker Score: 8442
  • Cell Name: cord blood hematopoietic stem cell (CL2000095)
    Fold Change: 6.89
    Marker Score: 5198
  • Cell Name: pulmonary artery endothelial cell (CL1001568)
    Fold Change: 5.68
    Marker Score: 4888
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 5.66
    Marker Score: 4429
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 5.44
    Marker Score: 11492
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 5.27
    Marker Score: 6173
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 5.23
    Marker Score: 3688
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 5.22
    Marker Score: 51734
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 5.16
    Marker Score: 1512
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 4.92
    Marker Score: 4177
  • Cell Name: activated CD8-positive, alpha-beta T cell (CL0000906)
    Fold Change: 4.8
    Marker Score: 3479
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: 4.78
    Marker Score: 2900
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 4.72
    Marker Score: 7271.5
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 4.57
    Marker Score: 255453
  • Cell Name: natural T-regulatory cell (CL0000903)
    Fold Change: 4.55
    Marker Score: 2336
  • Cell Name: NKp46-positive innate lymphoid cell, human (CL0001076)
    Fold Change: 4.54
    Marker Score: 13248
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: 4.51
    Marker Score: 14248.5
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: 4.51
    Marker Score: 5871
  • Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
    Fold Change: 4.46
    Marker Score: 7647
  • Cell Name: naive T cell (CL0000898)
    Fold Change: 4.43
    Marker Score: 2853
  • Cell Name: intraepithelial lymphocyte (CL0002496)
    Fold Change: 4.4
    Marker Score: 4888
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 4.37
    Marker Score: 231091
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: 4.36
    Marker Score: 2249
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 4.33
    Marker Score: 11594
  • Cell Name: blood cell (CL0000081)
    Fold Change: 4.31
    Marker Score: 50074
  • Cell Name: unswitched memory B cell (CL0000970)
    Fold Change: 4.21
    Marker Score: 2467
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 4.21
    Marker Score: 1551
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 4.21
    Marker Score: 11616
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 4.16
    Marker Score: 26539
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 4.14
    Marker Score: 11605
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 4.12
    Marker Score: 14633
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 4.11
    Marker Score: 4106
  • Cell Name: germinal center B cell (CL0000844)
    Fold Change: 4.09
    Marker Score: 2490
  • Cell Name: naive B cell (CL0000788)
    Fold Change: 4.04
    Marker Score: 3603
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 4.02
    Marker Score: 53059
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 3.95
    Marker Score: 134241
  • Cell Name: double negative T regulatory cell (CL0011024)
    Fold Change: 3.93
    Marker Score: 3799
  • Cell Name: chondrocyte (CL0000138)
    Fold Change: 3.86
    Marker Score: 1739
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 3.84
    Marker Score: 9384
  • Cell Name: CD8-alpha alpha positive, gamma-delta intraepithelial T cell (CL0000802)
    Fold Change: 3.84
    Marker Score: 1248
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 3.84
    Marker Score: 2730
  • Cell Name: memory T cell (CL0000813)
    Fold Change: 3.82
    Marker Score: 1643
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 3.81
    Marker Score: 9599
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: 3.79
    Marker Score: 16269
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 3.76
    Marker Score: 4016
  • Cell Name: IgG-negative class switched memory B cell (CL0002117)
    Fold Change: 3.74
    Marker Score: 3686
  • Cell Name: alveolar capillary type 1 endothelial cell (CL4028002)
    Fold Change: 3.73
    Marker Score: 9473
  • Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
    Fold Change: 3.72
    Marker Score: 5482
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 3.71
    Marker Score: 4246
  • Cell Name: class switched memory B cell (CL0000972)
    Fold Change: 3.7
    Marker Score: 3476
  • Cell Name: type I NK T cell (CL0000921)
    Fold Change: 3.67
    Marker Score: 2877.5
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 3.66
    Marker Score: 3264
  • Cell Name: effector CD8-positive, alpha-beta T cell (CL0001050)
    Fold Change: 3.65
    Marker Score: 3075
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 3.65
    Marker Score: 8318
  • Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
    Fold Change: 3.63
    Marker Score: 6490
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 3.62
    Marker Score: 6797
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 3.61
    Marker Score: 26897
  • Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
    Fold Change: 3.6
    Marker Score: 8778
  • Cell Name: myelocyte (CL0002193)
    Fold Change: 3.59
    Marker Score: 1552
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 3.59
    Marker Score: 1912
  • Cell Name: mucosal invariant T cell (CL0000940)
    Fold Change: 3.57
    Marker Score: 3177
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 3.55
    Marker Score: 1169
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 3.55
    Marker Score: 30851
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 3.52
    Marker Score: 4249.5
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 3.5
    Marker Score: 2982
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 3.5
    Marker Score: 5796
  • Cell Name: T follicular helper cell (CL0002038)
    Fold Change: 3.49
    Marker Score: 2897
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 3.47
    Marker Score: 1198
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 3.46
    Marker Score: 4795
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 3.46
    Marker Score: 3084
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 3.45
    Marker Score: 3255
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 3.43
    Marker Score: 1916
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 3.39
    Marker Score: 811
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 3.39
    Marker Score: 10637
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 3.37
    Marker Score: 7654
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 3.37
    Marker Score: 116781
  • Cell Name: CD4-positive, alpha-beta cytotoxic T cell (CL0000934)
    Fold Change: 3.37
    Marker Score: 2960
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 3.37
    Marker Score: 16167
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 3.36
    Marker Score: 2234
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 3.33
    Marker Score: 26032
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 3.3
    Marker Score: 3350
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 3.3
    Marker Score: 21452
  • Cell Name: activated CD4-positive, alpha-beta T cell (CL0000896)
    Fold Change: 3.29
    Marker Score: 2379
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 3.28
    Marker Score: 6543
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 3.27
    Marker Score: 1696
  • Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
    Fold Change: 3.27
    Marker Score: 1807
  • Cell Name: late pro-B cell (CL0002048)
    Fold Change: 3.26
    Marker Score: 3852
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 3.26
    Marker Score: 4615.5
  • Cell Name: effector CD4-positive, alpha-beta T cell (CL0001044)
    Fold Change: 3.25
    Marker Score: 3045
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 3.25
    Marker Score: 3118
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 3.25
    Marker Score: 19250
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 3.24
    Marker Score: 885
  • Cell Name: DN3 thymocyte (CL0000807)
    Fold Change: 3.24
    Marker Score: 1619
  • Cell Name: immature B cell (CL0000816)
    Fold Change: 3.23
    Marker Score: 2137
  • Cell Name: memory B cell (CL0000787)
    Fold Change: 3.22
    Marker Score: 2439
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 3.22
    Marker Score: 2534
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 3.21
    Marker Score: 6256
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 3.21
    Marker Score: 9156
  • Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
    Fold Change: 3.2
    Marker Score: 2621

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Other Information

**Key characteristics:** * The protein is a glycoprotein with a molecular weight of approximately 120 kDa. * It is a transmembrane protein that spans the mitochondrial inner membrane. * It is a key regulator of mitochondrial function. **Pathways and functions:** * The ATP synthase F1 subunit epsilon is involved in the citric acid (tca) cycle and respiratory electron transport. * In the citric acid cycle, it is involved in the production of ATP from pyruvate. * In the respiratory electron transport chain, it is involved in the transfer of electrons to oxygen, generating ATP and NADH. **Clinical significance:** * Mutations in the ATP5F1E gene have been linked to several human diseases, including mitochondrial disorders, metabolic syndrome, and cancer. * These diseases are characterized by impaired mitochondrial function, which is often caused by mutations in genes encoding mitochondrial proteins. * Targeting the ATP5F1E gene has emerged as a potential therapeutic strategy for these diseases. **Additional notes:** * The ATP synthase F1 subunit epsilon is a highly conserved protein. * It is a well-characterized target for therapeutic intervention in mitochondrial disorders. * The development of drugs that target the ATP synthase F1 subunit epsilon is an active area of research.

Genular Protein ID: 628744576

Symbol: ATP5E_HUMAN

Name: N/A

UniProtKB Accession Codes:

P56381 B2RDD0 E1P5H6 Q53XU6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ComplexPortal 1 DNASU 1 DisGeNET 1 EMBL 10 EMDB 1 EPD 1 Ensembl 3 GO 8 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 10 PDBsum 8 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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. For the full schema, download it here.