Homo sapiens Protein: ETFDH
Summary
InnateDB Protein IDBP-481677.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ETFDH
Protein Name electron-transferring-flavoprotein dehydrogenase
Synonyms ETFQO; MADD;
Species Homo sapiens
Ensembl Protein ENSP00000426638
InnateDB Gene IDBG-42940 (ETFDH)
Protein Structure
UniProt Annotation
Function Accepts electrons from ETF and reduces ubiquinone.
Subcellular Localization Mitochondrion inner membrane.
Disease Associations Glutaric aciduria 2C (GA2C) [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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004174 electron-transferring-flavoprotein dehydrogenase activity
GO:0009055 electron carrier activity
GO:0016491 oxidoreductase activity
GO:0043783 oxidoreductase activity, oxidizing metal ions with flavin as acceptor
GO:0046872 metal ion binding
GO:0048038 quinone binding
GO:0048039 ubiquinone binding
GO:0050660 flavin adenine dinucleotide binding
GO:0051539 4 iron, 4 sulfur cluster binding
Biological Process
GO:0006979 response to oxidative stress
GO:0022900 electron transport chain
GO:0022904 respiratory electron transport chain
GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase
GO:0044237 cellular metabolic process
GO:0044281 small molecule metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005759 mitochondrial matrix
GO:0031305 integral component of mitochondrial inner membrane
GO:0031966 mitochondrial membrane
Protein Structure and Domains
PDB ID
InterPro IPR000103 Pyridine nucleotide-disulphide oxidoreductase, class-II
IPR003953 FAD binding domain
IPR007859 Electron transfer flavoprotein-ubiquinone oxidoreductase
IPR023753 Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain
PFAM PF00890
PF05187
PF07992
PRINTS PR00469
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q16134
PhosphoSite PhosphoSite-Q16134
TrEMBL D6RAD5
UniProt Splice Variant
Entrez Gene 2110
UniGene Hs.630020
RefSeq NP_004444
HUGO HGNC:3483
OMIM 231675
CCDS CCDS3800
HPRD 01978
IMGT
EMBL AC107219 AK293737 AK304838 BC011890 BX538129 S69232
GenPept AAC60628 AAH11890 BAG57161 BAG65581 CAD98030