Details for: ETFA

Gene ID: 2108

Symbol: ETFA

Ensembl ID: ENSG00000140374

Description: electron transfer flavoprotein subunit alpha

Associated with

Cells (max top 100)

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

  • Cell Name: germ cell (CL0000586)
    Fold Change: 2.54
    Marker Score: 4434
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 2.31
    Marker Score: 7269
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 2.19
    Marker Score: 10505
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 2.15
    Marker Score: 8456
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 2.07
    Marker Score: 46187
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 1.92
    Marker Score: 801
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 1.91
    Marker Score: 1991
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.9
    Marker Score: 6227
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.9
    Marker Score: 1059.5
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.88
    Marker Score: 16217
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.86
    Marker Score: 4429
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 1.84
    Marker Score: 1448
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 1.81
    Marker Score: 23927
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.79
    Marker Score: 6341
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.77
    Marker Score: 857
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.76
    Marker Score: 1770
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.71
    Marker Score: 3564
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.7
    Marker Score: 10961
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 1.7
    Marker Score: 1399
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.7
    Marker Score: 4158
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.68
    Marker Score: 2468
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 1.67
    Marker Score: 10682
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.67
    Marker Score: 6846
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.66
    Marker Score: 1758.5
  • Cell Name: blood cell (CL0000081)
    Fold Change: 1.66
    Marker Score: 19279
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.64
    Marker Score: 1094
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.64
    Marker Score: 8798
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.63
    Marker Score: 7016
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.62
    Marker Score: 28750
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.61
    Marker Score: 2138
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 1.6
    Marker Score: 4362
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.59
    Marker Score: 33880
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.59
    Marker Score: 1709
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.58
    Marker Score: 1079
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 1.56
    Marker Score: 974
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 1.56
    Marker Score: 543
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 1.56
    Marker Score: 1492
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 1.56
    Marker Score: 2580
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.55
    Marker Score: 4224
  • Cell Name: platelet (CL0000233)
    Fold Change: 1.55
    Marker Score: 701
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 1.55
    Marker Score: 2190.5
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.55
    Marker Score: 1997
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.54
    Marker Score: 850
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.53
    Marker Score: 4101
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.51
    Marker Score: 9652
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 1.51
    Marker Score: 563
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.5
    Marker Score: 566
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 1.5
    Marker Score: 11703
  • Cell Name: Unknown (CL0000548)
    Fold Change: 1.48
    Marker Score: 1082
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 1.48
    Marker Score: 2284
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.48
    Marker Score: 354
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.48
    Marker Score: 1593
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.47
    Marker Score: 6152.5
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.47
    Marker Score: 4356
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 1.47
    Marker Score: 598
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.47
    Marker Score: 2492.5
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 1.46
    Marker Score: 2547
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.46
    Marker Score: 3437
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.46
    Marker Score: 1550
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.45
    Marker Score: 1335
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 1.45
    Marker Score: 1086
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.44
    Marker Score: 977
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 1.44
    Marker Score: 2355
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.44
    Marker Score: 6191
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.43
    Marker Score: 5304
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 1.43
    Marker Score: 36631
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.42
    Marker Score: 829
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 1.42
    Marker Score: 403
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 1.41
    Marker Score: 1657
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 1.41
    Marker Score: 1178
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 1.4
    Marker Score: 687
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 1.4
    Marker Score: 1316
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 1.39
    Marker Score: 447
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.39
    Marker Score: 2002
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 1.39
    Marker Score: 1310
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.39
    Marker Score: 1475
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.39
    Marker Score: 1202
  • Cell Name: club cell (CL0000158)
    Fold Change: 1.39
    Marker Score: 1619
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 1.38
    Marker Score: 561
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.38
    Marker Score: 689
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.38
    Marker Score: 521
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.38
    Marker Score: 398
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.38
    Marker Score: 1471
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 1.38
    Marker Score: 453
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.37
    Marker Score: 321
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.37
    Marker Score: 1510
  • Cell Name: oocyte (CL0000023)
    Fold Change: 1.36
    Marker Score: 335
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 1.35
    Marker Score: 2472
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 1.35
    Marker Score: 849
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.35
    Marker Score: 5207
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 1.35
    Marker Score: 3725
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 1.35
    Marker Score: 10015
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.35
    Marker Score: 3065
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1.34
    Marker Score: 497
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.34
    Marker Score: 1546
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 1.34
    Marker Score: 2132
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 1.34
    Marker Score: 653
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 1.33
    Marker Score: 1647.5
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.33
    Marker Score: 3340
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 1.33
    Marker Score: 291

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

**Key characteristics:** * The ETFA gene is located on chromosome 15q21.1. * It is a large gene with a molecular weight of approximately 3.5 MB. * The protein is encoded by 16 exons and 15 introns. * It is a transmembrane protein with a hydrophilic N-terminus and a hydrophobic C-terminus. * The protein is a flavoprotein, meaning it contains a flavoprotein domain responsible for electron transfer activity. **Pathways and functions:** * The ETFA gene is involved in the citric acid cycle of the mitochondria, where it is responsible for the following pathways: * Amino acid catabolic process * Electron transfer activity * Electron transfer flavoprotein complex * Fatty acid beta-oxidation using acyl-CoA dehydrogenase * Flavin adenine dinucleotide binding * Metabolism * Mitochondrial matrix * Mitochondrion * Oxidoreductase activity * Protein binding * Respiratory electron transport * Respiratory electron transport chain * The protein is also involved in the regulation of mitochondrial respiration and heat production. **Clinical significance:** * Mutations in the ETFA gene have been linked to several human diseases, including mitochondrial disorders, fatty acid oxidation disorders, and cancer. * These diseases are characterized by mitochondrial dysfunction and energy deficiency, which can lead to various clinical symptoms. * Targeting ETFA has emerged as a potential therapeutic approach for these diseases. **Additional notes:** * The ETFA gene is highly expressed in germ cell, colon epithelial cell, enterocyte, placental villous trophoblast, regular ventricular cardiac myocyte, megakaryocyte-erythroid progenitor cell, erythroid progenitor cell, hepatoblast, and fat cell. * The protein is also expressed in the epithelial cell of the esophagus. * The expression of ETFA is upregulated in cancer cells, suggesting that it may play a role in tumor growth and proliferation.

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 EPD 1 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 9 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 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 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 8 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 UCD-2DPAGE 1 UCSC 1 UniProtKB 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. For the full schema, download it here.