Homo sapiens Protein: ETFA
Summary
InnateDB Protein IDBP-378211.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ETFA
Protein Name electron-transfer-flavoprotein, alpha polypeptide
Synonyms EMA; GA2; MADD;
Species Homo sapiens
Ensembl Protein ENSP00000399273
InnateDB Gene IDBG-23927 (ETFA)
Protein Structure
UniProt Annotation
Function The electron transfer flavoprotein serves as a specific electron acceptor for several dehydrogenases, including five acyl- CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase. It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase).
Subcellular Localization Mitochondrion matrix.
Disease Associations 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:0000269PubMed:1430199, ECO:0000269PubMed:1882842}. 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 21 experimentally validated interaction(s) in this database.
Experimentally validated
Total 21 [view]
Protein-Protein 19 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0009055 electron carrier activity
GO:0016491 oxidoreductase activity
GO:0050660 flavin adenine dinucleotide binding
Biological Process
GO:0022904 respiratory electron transport chain
GO:0044237 cellular metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR001308 Electron transfer flavoprotein, alpha subunit
IPR014730 Electron transfer flavoprotein, alpha/beta-subunit, N-terminal
IPR014731 Electron transfer flavoprotein, alpha subunit, C-terminal
IPR029035 DHS-like NAD/FAD-binding domain
PFAM PF01012
PF00766
PRINTS
PIRSF PIRSF000089
SMART SM00893
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P13804
PhosphoSite PhosphoSite-P13804
TrEMBL H0YL83
UniProt Splice Variant
Entrez Gene 2108
UniGene Hs.708509
RefSeq NP_001121188
HUGO HGNC:3481
OMIM 608053
CCDS CCDS45311
HPRD 01979
IMGT
EMBL AC027243 AC091100 AF436646 AF436647 AF436648 AF436649 AF436650 AF436651 AF436652 AF436653 AF436654 AF436655 AF436656 AF436657 AJ224002 AK292979 AK300044 BC015526 BC095457 BT009796 CH471136 J04058 S55815 S55816
GenPept AAA52406 AAH15526 AAH95457 AAN03712 AAP88798 BAF85668 BAG61855 CAA11802 EAW99221