Property Summary

NCBI Gene PubMed Count 30
PubMed Score 298.32
PubTator Score 144.83

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

 OMIM Phenotype (1)

Protein-protein Interaction (11)

Gene RIF (10)

PMID Text
24394546 the mechanism of tert-butyl hydroperoxide-induced an apoptosis cascade and endoplasmic reticulum stress in hepatocyte cells by up-regulation of ETFA, providing a new mechanism for liver injury.
23874603 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of electron-transfer-flavoprotein, alpha polypeptide (ETFA) expression by HIV-1 Vpr in Vpr transduced macrophages
21308847 These results are consistent with the electron transfer flavoprotein alpha II domain adopting orientations in solution that deviate from the crystal structure of free ETF towards the active, substrate-bound orientation.
21219902 investigations are compatible with the notion that the ETFalpha-T171 variant displays an altered conformational landscape that results in reduced protein function under thermal stress
20877624 Observational study of gene-disease association. (HuGE Navigator)
20674745 Data established structural hotspots within the ETF fold, and provided a rationale for the prediction of effects of mutations in ETF.
19208393 Observational study of gene-disease association. (HuGE Navigator)
17689999 No mutations in electron-transfer-flavoprotein but maternal riboflavin deficiency led to multiple acyl-CoA dehydrogenation deficiency
16510302 Tissue samples from 16 unrelated patients with ETF deficiency were analysed and the majority of the patients had mutations in the ETFA gene.
11756429 These studies indicate that a series of conformational changes occur during the assembly of the TMADH.ETF electron transfer complex and that the kinetics of assembly observed with mutant TMADH or ETF complexes are much slower

AA Sequence

MFRAAAPGQLRRAASLLRFQSTLVIAEHANDSLAPITLNTITAATRLGGEVSCLVAGTKCDKVAQDLCKV      1 - 70
AGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKS     71 - 140
PDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRP    141 - 210
ELTGAKVVVSGGRGLKSGENFKLLYDLADQLHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGI    211 - 280
SGAIQHLAGMKDSKTIVAINKDPEAPIFQVADYGIVADLFKVVPEMTEILKKK                     281 - 333
//

Text Mined References (38)

PMID Year Title
27499296 2016 Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function.
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25416781 2015 Human METTL20 is a mitochondrial lysine methyltransferase that targets the ? subunit of electron transfer flavoprotein (ETF?) and modulates its activity.
24394546 2014 Exploring the effects of tert-butylhydroperoxide induced liver injury using proteomic approach.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22491018 2013 Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.
21308847 2011 Electron transfer flavoprotein domain II orientation monitored using double electron-electron resonance between an enzymatically reduced, native FAD cofactor, and spin labels.
21269460 2011 Initial characterization of the human central proteome.
21219902 2011 A polymorphic position in electron transfer flavoprotein modulates kinetic stability as evidenced by thermal stress.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20833797 2011 Phosphoproteome analysis of functional mitochondria isolated from resting human muscle reveals extensive phosphorylation of inner membrane protein complexes and enzymes.
20674745 2010 Mutational hotspots in electron transfer flavoprotein underlie defective folding and function in multiple acyl-CoA dehydrogenase deficiency.
19208393 2009 Clinical and genetic analysis of lipid storage myopathies.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17689999 Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16572171 2006 Analysis of the DNA sequence and duplication history of human chromosome 15.
16510302 2006 Electron transfer flavoprotein deficiency: functional and molecular aspects.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15975918 2005 Stabilization of non-productive conformations underpins rapid electron transfer to electron-transferring flavoprotein.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15159392 2004 Extensive domain motion and electron transfer in the human electron transferring flavoprotein.medium chain Acyl-CoA dehydrogenase complex.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12815589 2003 Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10423253 1999 The intraflavin hydrogen bond in human electron transfer flavoprotein modulates redox potentials and may participate in electron transfer.
10356313 1999 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.
9334218 1997 Expression and characterization of two pathogenic mutations in human electron transfer flavoprotein.
8962055 1996 Three-dimensional structure of human electron transfer flavoprotein to 2.1-A resolution.
8617498 1996 Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13: the mouse homologs of genes responsible for glutaric acidemia type II in human.
7821789 1994 Construction of a human full-length cDNA bank.
3170610 1988 Molecular cloning and nucleotide sequence of cDNAs encoding the alpha-subunit of human electron transfer flavoprotein.
3053288 1988 Acyl-CoA dehydrogenases, electron transfer flavoprotein and electron transfer flavoprotein dehydrogenase.
1882842 1991 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.
1430199 1992 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.