ETFB
entrez
2109
canonical
uniprot
P38117
canonical
ensembl
ENSG00000105379
resolver
ensp
ENSP00000311930
resolver
ensp
ENSP00000346173
resolver
genesymbol
ETFB
resolver
hgnc
HGNC:3482
resolver
uniprot
A8K766
resolver
uniprot
B3KNY2
resolver
uniprot
Q6IBH7
resolver
uniprot
Q71RF6
resolver
uniprot
Q9Y3S7
resolver
uniprot_entry
ETFB_HUMAN
resolver
uniprot_sec
A8K766
resolver
uniprot_sec
B3KNY2
resolver
uniprot_sec
Q6IBH7
resolver
uniprot_sec
Q71RF6
resolver
uniprot_sec
Q9Y3S7
resolver
amino_acid_sequence
MAELRVLVAVKRVIDYAVKIRVKPDRTGVVTDGVKHSMNPFCEIAVEEAVRLKEKKLVKEVIAVSCGPAQCQETIRTALAMGADRGIHVEVPPAEAERLGPLQVARVLAKLAEKEKVDLVLLGKQAIDDDCNQTGQMTAGFLDWPQGTFASQVTLEGDKLKVEREIDGGLETLRLKLPAVVTADLRLNEPRYATLPNIMKAKKKKIEVIKPGDLGVDLTSKLSVISVEDPPQRTAGVKVETTEDLVAKLKEIGRI
uniprot
proteins
disease_involvement
DISEASE: Glutaric aciduria 2B (GA2B) [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:7912128}. 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:15159392, PubMed:15975918, PubMed:25416781). It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (Probable). Required for normal mitochondrial fatty acid oxidation and normal amino acid metabolism (PubMed:12815589, PubMed:7912128). ETFB binds an AMP molecule that probably has a purely structural role (PubMed:15159392, PubMed:15975918, PubMed:8962055). {ECO:0000269|PubMed:12815589, ECO:0000269|PubMed:15159392, ECO:0000269|PubMed:15975918, ECO:0000269|PubMed:25416781, ECO:0000269|PubMed:7912128, ECO:0000269|PubMed:8962055, ECO:0000303|PubMed:17941859, ECO:0000305}.
uniprot
proteins
mass_dalton
27844
uniprot
proteins
mutagenesis
MUTAGEN 165; /note="E->A,Q: Drastically increases interprotein electron transfer rates."; /evidence="ECO:0000269|PubMed:15975918"; MUTAGEN 195; /note="L->A: Severely impaired in complex formation with ACADM."; /evidence="ECO:0000269|PubMed:15159392"; MUTAGEN 200..203; /note="KAKK->RAKR: Does not abolish electron transfer activity. Abolishes sensitivity to inhibition by lysine methyltransferase ETFBKMT."; /evidence="ECO:0000269|PubMed:25416781"; MUTAGEN 200..202; /note="KAK->RAR: Does not abolish methylation by ETFBKMT."; /evidence="ECO:0000269|PubMed:25416781"; MUTAGEN 200; /note="K->R: Does not abolish electron transfer activity. Decreases sensitivity to inhibition by lysine methyltransferase ETFBKMT."; /evidence="ECO:0000269|PubMed:25416781"; MUTAGEN 203; /note="K->R: Does not abolish electron transfer activity. Decreases sensitivity to inhibition by lysine methyltransferase ETFBKMT."; /evidence="ECO:0000269|PubMed:25416781
uniprot
proteins
post_translational_modification
PTM: Methylated. Trimethylation at Lys-200 and Lys-203 may negatively regulate the activity in electron transfer from acyl-CoA dehydrogenases. {ECO:0000269|PubMed:25023281, ECO:0000269|PubMed:25416781}.
uniprot
proteins
protein_family
ETF beta-subunit/FixA family
uniprot
proteins
pubmed
10356313
uniprot
proteins
pubmed
12815589
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15159392
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
15975918
uniprot
proteins
pubmed
17941859
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25023281
uniprot
proteins
pubmed
25416781
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27499296
uniprot
proteins
pubmed
35362222
uniprot
proteins
pubmed
3760196
uniprot
proteins
pubmed
7912128
uniprot
proteins
pubmed
8504797
uniprot
proteins
pubmed
8962055
uniprot
proteins
sequence_length
255
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:3760196, ECO:0000305|PubMed:25023281, ECO:0000305|PubMed:8504797}.
uniprot
proteins