ETFA
entrez
2108
canonical
uniprot
P13804
canonical
ensembl
ENSG00000140374
resolver
ensp
ENSP00000399273
resolver
ensp
ENSP00000452762
resolver
genesymbol
ETFA
resolver
hgnc
HGNC:3481
resolver
uniprot
A0A0S2Z3L0
resolver
uniprot
B4DT43
resolver
uniprot
Q53XN3
resolver
uniprot_entry
A0A0S2Z3L0_HUMAN
resolver
uniprot_entry
ETFA_HUMAN
resolver
uniprot_sec
B4DT43
resolver
uniprot_sec
Q53XN3
resolver
amino_acid_sequence
MFRAAAPGQLRRAASLLRFQSTLVIAEHANDSLAPITLNTITAATRLGGEVSCLVAGTKCDKVAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGGRGLKSGENFKLLYDLADQLHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKTIVAINKDPEAPIFQVADYGIVADLFKVVPEMTEILKKK
uniprot
proteins
disease_involvement
DISEASE: Glutaric aciduria 2A (GA2A) [MIM:231680]: An autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. {ECO:0000269|PubMed:12815589, ECO:0000269|PubMed:1430199, ECO:0000269|PubMed:1882842, ECO:0000269|PubMed:9334218}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase (PubMed:10356313, PubMed:15159392, PubMed:15975918, PubMed:27499296, PubMed:9334218). It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase) (PubMed:9334218). Required for normal mitochondrial fatty acid oxidation and normal amino acid metabolism (PubMed:12815589, PubMed:1430199, PubMed:1882842). {ECO:0000269|PubMed:10356313, ECO:0000269|PubMed:12815589, ECO:0000269|PubMed:1430199, ECO:0000269|PubMed:15159392, ECO:0000269|PubMed:15975918, ECO:0000269|PubMed:27499296, ECO:0000269|PubMed:9334218, ECO:0000303|PubMed:17941859, ECO:0000305|PubMed:1882842}.
uniprot
proteins
mass_dalton
35080
uniprot
proteins
mutagenesis
MUTAGEN 249; /note="R->A: Loss of electron transfer activity."; /evidence="ECO:0000269|PubMed:15975918
uniprot
proteins
post_translational_modification
PTM: The N-terminus is blocked.
uniprot
proteins
protein_family
ETF alpha-subunit/FixB family
uniprot
proteins
pubmed
10356313
uniprot
proteins
pubmed
12815589
uniprot
proteins
pubmed
1430199
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15159392
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15975918
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
17941859
uniprot
proteins
pubmed
1882842
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27499296
uniprot
proteins
pubmed
3170610
uniprot
proteins
pubmed
35362222
uniprot
proteins
pubmed
3760196
uniprot
proteins
pubmed
8962055
uniprot
proteins
pubmed
9334218
uniprot
proteins
sequence_length
333
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:3760196}.
uniprot
proteins