Property Summary

NCBI Gene PubMed Count 26
PubMed Score 19.32
PubTator Score 25.56

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
osteosarcoma -1.204 4.3e-03
group 4 medulloblastoma -1.800 2.8e-06
pancreatic ductal adenocarcinoma liver m... -1.302 2.8e-02
breast carcinoma -1.100 1.8e-03
ductal carcinoma in situ -1.300 5.5e-04
invasive ductal carcinoma -1.300 6.9e-03
ulcerative colitis -1.100 8.2e-06

 GO Function (1)

 OMIM Phenotype (1)

Gene RIF (13)

PMID Text
25915519 Electron Transfer Flavoprotein Subunit Beta Is a Candidate Endothelial Cell Autoantigen in Behcet's Disease
25416781 Human METTL20 is a mitochondrial lysine methyltransferase that targets ETFbeta and modulates its activity.
23874603 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of electron-transfer-flavoprotein, beta polypeptide (ETFB) expression by HIV-1 Vpr in Vpr transduced macrophages
23125841 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of electron-transfer-flavoprotein, beta polypeptide (ETFB) expression by HIV-1 Vpr in Vpr transduced macrophages
23068445 ETFB knockdown can affect TGF-beta-induced tissue remodeling and/or fibrotic processes in vitro.
22588007 Point mutations in electron-transfer-flavoprotein beta is associated with destabilized conformations and defective protein:protein interactions leading to mitochondrial dysfunction.
21903359 ETFB participates in the mechanoregulation of fibroblast cell number in collagen gel culture.
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)
19088074 conformational and stability properties of the disease-causing variant ETFbeta-D128N, and our findings on the effect of flavinylation in modulating protein conformational stability and activity.
16510302 Tissue samples from 16 unrelated patients with ETF deficiency were analysed, two of them harboured mutations in the ETFB gene.
15975918 non-productive conformation stabilization underpins rapid electron transfer to electron-transferring flavoprotein

AA Sequence

MAELRVLVAVKRVIDYAVKIRVKPDRTGVVTDGVKHSMNPFCEIAVEEAVRLKEKKLVKEVIAVSCGPAQ      1 - 70
CQETIRTALAMGADRGIHVEVPPAEAERLGPLQVARVLAKLAEKEKVDLVLLGKQAIDDDCNQTGQMTAG     71 - 140
FLDWPQGTFASQVTLEGDKLKVEREIDGGLETLRLKLPAVVTADLRLNEPRYATLPNIMKAKKKKIEVIK    141 - 210
PGDLGVDLTSKLSVISVEDPPQRTAGVKVETTEDLVAKLKEIGRI                             211 - 255
//

Text Mined References (32)

PMID Year Title
27499296 2016 Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25915519 2015 Electron Transfer Flavoprotein Subunit Beta Is a Candidate Endothelial Cell Autoantigen in Behçet's Disease.
25416781 2015 Human METTL20 is a mitochondrial lysine methyltransferase that targets the ? subunit of electron transfer flavoprotein (ETF?) and modulates its activity.
25023281 2014 Human METTL20 methylates lysine residues adjacent to the recognition loop of the electron transfer flavoprotein in mitochondria.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24129315 2014 Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23068445 2012 Knockdown of electron transfer flavoprotein ? subunit reduced TGF-?-induced ?-SMA mRNA expression but not COL1A1 in fibroblast-populated three-dimensional collagen gel cultures.
22588007 2012 Mechanism of superoxide and hydrogen peroxide generation by human electron-transfer flavoprotein and pathological variants.
21903359 2011 Identification of ETFB as a candidate protein that participates in the mechanoregulation of fibroblast cell number in collagen gel culture.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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.
19088074 2009 Role of flavinylation in a mild variant of multiple acyl-CoA dehydrogenation deficiency: a molecular rationale for the effects of riboflavin supplementation.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
16510302 2006 Electron transfer flavoprotein deficiency: functional and molecular aspects.
15975918 2005 Stabilization of non-productive conformations underpins rapid electron transfer to electron-transferring flavoprotein.
15498874 2004 Large-scale cDNA transfection screening for genes related to cancer development and progression.
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.
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.
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.
8504797 1993 cDNA cloning and mitochondrial import of the beta-subunit of the human electron-transfer flavoprotein.
8188225 1994 Assignment of the gene encoding the beta-subunit of the electron-transfer flavoprotein (ETFB) to human chromosome 19q13.3.
7912128 1994 Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II.
1677763 1991 RsaI RFLP for electron transport flavoprotein-beta(ETFB).