Details for: ETFA

Gene ID: 2108

Symbol: ETFA

Ensembl ID: ENSG00000140374

Description: electron transfer flavoprotein subunit alpha

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: 251.4381
    Cell Significance Index: -39.1100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 172.2891
    Cell Significance Index: -43.7000
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 131.4366
    Cell Significance Index: -54.1500
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 128.1235
    Cell Significance Index: -60.4900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 126.0163
    Cell Significance Index: -51.2000
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 114.3501
    Cell Significance Index: -58.8200
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 90.2206
    Cell Significance Index: -60.5400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 54.0721
    Cell Significance Index: -51.6300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 42.7996
    Cell Significance Index: -52.7700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 17.1006
    Cell Significance Index: -45.8100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 14.4296
    Cell Significance Index: -56.9400
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 13.0622
    Cell Significance Index: -40.1200
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 11.9118
    Cell Significance Index: -26.0700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 5.0651
    Cell Significance Index: 590.2800
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 4.6542
    Cell Significance Index: 78.4000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 3.8357
    Cell Significance Index: 102.4200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.1010
    Cell Significance Index: 416.9500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.4586
    Cell Significance Index: 111.9300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.2834
    Cell Significance Index: 17.5100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.1854
    Cell Significance Index: 55.2700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.1535
    Cell Significance Index: 207.9400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.0738
    Cell Significance Index: 132.0300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.0547
    Cell Significance Index: 29.4800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.9903
    Cell Significance Index: 26.5400
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.9725
    Cell Significance Index: 8.9600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.9458
    Cell Significance Index: 18.4600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.9280
    Cell Significance Index: 837.8900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.9174
    Cell Significance Index: 108.1900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.9159
    Cell Significance Index: 47.5800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.8904
    Cell Significance Index: 178.6100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.8336
    Cell Significance Index: 114.4800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.7958
    Cell Significance Index: 434.6100
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.7911
    Cell Significance Index: 11.6800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.6231
    Cell Significance Index: 18.3000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.5872
    Cell Significance Index: 43.7600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.5834
    Cell Significance Index: 15.8800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.5613
    Cell Significance Index: 26.3800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.5599
    Cell Significance Index: 11.7200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.5370
    Cell Significance Index: 37.9800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4909
    Cell Significance Index: 217.0500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.4749
    Cell Significance Index: 170.3600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.4412
    Cell Significance Index: 28.4700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.4263
    Cell Significance Index: 23.9200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.4024
    Cell Significance Index: 10.5800
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.3944
    Cell Significance Index: 5.9100
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.3351
    Cell Significance Index: 2.1800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3339
    Cell Significance Index: 63.5400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.3082
    Cell Significance Index: 39.5100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3009
    Cell Significance Index: 48.9400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3007
    Cell Significance Index: 207.9500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.2504
    Cell Significance Index: 32.3500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.2083
    Cell Significance Index: 35.5600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1471
    Cell Significance Index: 14.5600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1420
    Cell Significance Index: 267.4300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.1059
    Cell Significance Index: 3.6800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0648
    Cell Significance Index: 41.1700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0441
    Cell Significance Index: 1.5500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0412
    Cell Significance Index: 76.0100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0286
    Cell Significance Index: 12.9700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0269
    Cell Significance Index: 41.4000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0084
    Cell Significance Index: 0.2700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0079
    Cell Significance Index: 10.7300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0024
    Cell Significance Index: 1.8000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0021
    Cell Significance Index: -1.5300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0130
    Cell Significance Index: -9.6200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0396
    Cell Significance Index: -24.7100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0397
    Cell Significance Index: -0.6700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0565
    Cell Significance Index: -5.7700
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.0689
    Cell Significance Index: -0.5500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0756
    Cell Significance Index: -42.6500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1307
    Cell Significance Index: -3.3600
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.1385
    Cell Significance Index: -3.3800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1469
    Cell Significance Index: -30.9500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1676
    Cell Significance Index: -48.2300
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.1707
    Cell Significance Index: -2.5200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1815
    Cell Significance Index: -26.3900
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1886
    Cell Significance Index: -2.0500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1893
    Cell Significance Index: -21.6900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2746
    Cell Significance Index: -31.3500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2946
    Cell Significance Index: -15.3500
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.3407
    Cell Significance Index: -5.7300
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3883
    Cell Significance Index: -9.9200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.3959
    Cell Significance Index: -23.7700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.4006
    Cell Significance Index: -6.8700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.4125
    Cell Significance Index: -27.7400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.4508
    Cell Significance Index: -20.4400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4527
    Cell Significance Index: -47.1400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.4573
    Cell Significance Index: -11.4300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.4697
    Cell Significance Index: -24.6600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4725
    Cell Significance Index: -37.4300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.4988
    Cell Significance Index: -31.4400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.5079
    Cell Significance Index: -13.5900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.5263
    Cell Significance Index: -23.2800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.5639
    Cell Significance Index: -12.0100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.6348
    Cell Significance Index: -24.0400
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.6356
    Cell Significance Index: -3.8400
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.6384
    Cell Significance Index: -7.6100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.6708
    Cell Significance Index: -33.9000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.6874
    Cell Significance Index: -47.5400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.7048
    Cell Significance Index: -15.2700

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** ETFA is a subunit of the electron transfer flavoprotein complex, which is a flavoprotein that binds to FAD (flavin adenine dinucleotide) and plays a crucial role in electron transfer reactions. ETFA is a mitochondrial protein, specifically localized to the mitochondrial matrix, where it participates in the electron transport chain. The ETF complex is involved in the transfer of electrons from FAD to ubiquinone, which is essential for generating ATP through chemiosmosis. ETFA is also involved in the regulation of fatty acid beta-oxidation, a process critical for energy production in cells. **Pathways and Functions** ETFA is involved in several key metabolic pathways, including: 1. **Fatty Acid Beta-Oxidation**: ETFA is essential for the transfer of electrons from FAD to acyl-CoA dehydrogenase, which catalyzes the first step of fatty acid beta-oxidation. This process is critical for energy production in cells. 2. **Electron Transfer Activity**: ETFA is a component of the electron transfer flavoprotein complex, which plays a crucial role in electron transfer reactions. This process is essential for generating ATP through chemiosmosis. 3. **Respiratory Electron Transport**: ETFA is involved in the electron transport chain, where it participates in the transfer of electrons from FAD to ubiquinone. This process is critical for generating ATP and maintaining cellular homeostasis. 4. **Citric Acid Cycle**: ETFA is also involved in the citric acid cycle, where it plays a role in the regulation of fatty acid beta-oxidation. **Clinical Significance** Dysfunction of ETFA has been linked to various diseases, including: 1. **Mitochondrial Myopathies**: ETFA mutations have been identified in patients with mitochondrial myopathies, a group of disorders characterized by muscle weakness and fatigue. 2. **Neurodegenerative Diseases**: ETFA has been implicated in neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease, where mitochondrial dysfunction is a hallmark. 3. **Cancer**: ETFA has been shown to play a role in cancer development and progression, where it is involved in the regulation of fatty acid beta-oxidation and energy production. In conclusion, ETFA is a critical component of the electron transfer flavoprotein complex, playing a pivotal role in various metabolic pathways, including fatty acid beta-oxidation, electron transfer activity, and respiratory electron transport. Its dysfunction has been linked to various diseases, highlighting the importance of this gene in maintaining cellular homeostasis. Further research is needed to elucidate the mechanisms by which ETFA regulates these pathways and to explore its potential as a therapeutic target for diseases associated with mitochondrial dysfunction.

Genular Protein ID: 3384107310

Symbol: ETFA_HUMAN

Name: Electron transfer flavoprotein subunit alpha, mitochondrial

UniProtKB Accession Codes:

P13804 B4DT43 Q53XN3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CPTAC 2 CTD 1 CarbonylDB 1 ChEBI 7 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 24 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 9 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 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 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PIR 1 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TopDownProteomics 2 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3170610

Title: Molecular cloning and nucleotide sequence of cDNAs encoding the alpha-subunit of human electron transfer flavoprotein.

PubMed ID: 3170610

DOI: 10.1016/s0021-9258(19)37655-0

PubMed ID: 12815589

Title: Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.

PubMed ID: 12815589

DOI: 10.1002/humu.10226

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

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: 17941859

Title: Dynamics driving function: new insights from electron transferring flavoproteins and partner complexes.

PubMed ID: 17941859

DOI: 10.1111/j.1742-4658.2007.06107.x

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

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: 27499296

Title: Mitochondrial protein interaction mapping identifies regulators of respiratory chain function.

PubMed ID: 27499296

DOI: 10.1016/j.molcel.2016.06.033

PubMed ID: 8962055

Title: Three-dimensional structure of human electron transfer flavoprotein to 2.1-A resolution.

PubMed ID: 8962055

DOI: 10.1073/pnas.93.25.14355

PubMed ID: 15159392

Title: Extensive domain motion and electron transfer in the human electron transferring flavoprotein.medium chain acyl-CoA dehydrogenase complex.

PubMed ID: 15159392

DOI: 10.1074/jbc.m404884200

PubMed ID: 15975918

Title: Stabilization of non-productive conformations underpins rapid electron transfer to electron-transferring flavoprotein.

PubMed ID: 15975918

DOI: 10.1074/jbc.m505562200

PubMed ID: 1882842

Title: Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II -- and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient.

PubMed ID: 1882842

PubMed ID: 1430199

Title: Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients.

PubMed ID: 1430199

DOI: 10.1172/jci116040

PubMed ID: 9334218

Title: Expression and characterization of two pathogenic mutations in human electron transfer flavoprotein.

PubMed ID: 9334218

DOI: 10.1074/jbc.272.42.26425

PubMed ID: 10356313

Title: A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation.

PubMed ID: 10356313

DOI: 10.1006/mgme.1999.2856

Sequence Information:

  • Length: 333
  • Mass: 35080
  • Checksum: 2EC6D1ADE68CBDB5
  • Sequence:
    • MFRAAAPGQL RRAASLLRFQ STLVIAEHAN DSLAPITLNT ITAATRLGGE VSCLVAGTKC 
DKVAQDLCKV AGIAKVLVAQ HDVYKGLLPE ELTPLILATQ KQFNYTHICA GASAFGKNLL 
PRVAAKLEVA PISDIIAIKS PDTFVRTIYA GNALCTVKCD EKVKVFSVRG TSFDAAATSG 
GSASSEKASS TSPVEISEWL DQKLTKSDRP ELTGAKVVVS GGRGLKSGEN FKLLYDLADQ 
LHAAVGASRA AVDAGFVPND MQVGQTGKIV APELYIAVGI SGAIQHLAGM KDSKTIVAIN 
KDPEAPIFQV ADYGIVADLF KVVPEMTEIL KKK

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.