ETFA

Available structures

Ortholog search: PDBe RCSB

List of PDB id codes
1EFV, 1T9G, 2A1T, 2A1U

Identifiers

Aliases

ETFA, EMA, GA2, MADD, electron transfer flavoprotein alpha subunit

External IDs

MGI: 106092 HomoloGene: 100 GeneCards: ETFA

Gene ontology
Molecular function	• electron carrier activity • oxidoreductase activity • flavin adenine dinucleotide binding • protein binding
Cellular component	• mitochondrial matrix • extracellular exosome • mitochondrion
Biological process	• respiratory electron transport chain • oxidation-reduction process • fatty acid beta-oxidation using acyl-CoA dehydrogenase
Sources:Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

Entrez


2108


110842

Ensembl


ENSG00000140374


ENSMUSG00000032314

UniProt


P13804


Q99LC5

RefSeq (mRNA)


NM_000126 NM_001127716


NM_145615

RefSeq (protein)


NP_000117 NP_001121188


NP_663590

Location (UCSC)

Chr 15: 76.22 – 76.31 Mb

Chr 9: 55.45 – 55.51 Mb

PubMed search

^[1]

^[2]

Wikidata

View/Edit Human

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Electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II), also known as ETFA, is a protein which in humans is encoded by the ETFA gene.^[3]

ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.^[3]

References

Frerman FE (1988). "Acyl-CoA dehydrogenases, electron transfer flavoprotein and electron transfer flavoprotein dehydrogenase.". Biochem. Soc. Trans. 16 (3): 416–8. PMID 3053288.
Freneaux E, Sheffield VC, Molin L, et al. (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.". J. Clin. Invest. 90 (5): 1679–86. PMC 443224 . PMID 1430199. doi:10.1172/JCI116040.
Indo Y, Glassberg R, Yokota I, Tanaka K (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.". Am. J. Hum. Genet. 49 (3): 575–80. PMC 1683153 . PMID 1882842.
Finocchiaro G, Ito M, Ikeda Y, Tanaka K (1988). "Molecular cloning and nucleotide sequence of cDNAs encoding the alpha-subunit of human electron transfer flavoprotein.". J. Biol. Chem. 263 (30): 15773–80. PMID 3170610.
White RA, Dowler LL, Angeloni SV, Koeller DM (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.". Genomics. 33 (1): 131–4. PMID 8617498. doi:10.1006/geno.1996.0170.
Roberts DL, Frerman FE, Kim JJ (1997). "Three-dimensional structure of human electron transfer flavoprotein to 2.1-A resolution.". Proc. Natl. Acad. Sci. U.S.A. 93 (25): 14355–60. PMC 26136 . PMID 8962055. doi:10.1073/pnas.93.25.14355.
Bross P, Pedersen P, Winter V, et al. (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.". Mol. Genet. Metab. 67 (2): 138–47. PMID 10356313. doi:10.1006/mgme.1999.2856.
Jones M, Talfournier F, Bobrov A, et al. (2002). "Electron transfer and conformational change in complexes of trimethylamine dehydrogenase and electron transferring flavoprotein.". J. Biol. Chem. 277 (10): 8457–65. PMID 11756429. doi:10.1074/jbc.M111105200.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
Olsen RK, Andresen BS, Christensen E, et al. (2003). "Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.". Hum. Mutat. 22 (1): 12–23. PMID 12815589. doi:10.1002/humu.10226.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. PMC 1356129 . PMID 16344560. doi:10.1101/gr.4039406.
Schiff M, Froissart R, Olsen RK, et al. (2006). "Electron transfer flavoprotein deficiency: functional and molecular aspects.". Mol. Genet. Metab. 88 (2): 153–8. PMID 16510302. doi:10.1016/j.ymgme.2006.01.009.
Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.". Cell. 127 (3): 635–48. PMID 17081983. doi:10.1016/j.cell.2006.09.026.
Chiong MA, Sim KG, Carpenter K, et al. (2007). "Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency.". Mol. Genet. Metab. 92 (1–2): 109–14. PMID 17689999. doi:10.1016/j.ymgme.2007.06.017.

PDB gallery

1efv: THREE-DIMENSIONAL STRUCTURE OF HUMAN ELECTRON TRANSFER FLAVOPROTEIN TO 2.1 A RESOLUTION

1t9g: Structure of the human MCAD:ETF complex

2a1t: Structure of the human MCAD:ETF E165betaA complex

2a1u: Crystal structure of the human ETF E165betaA mutant

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ETFA

References

Further reading