Homo sapiens Protein: ETFA | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-586958.3 | ||||||||||||||||||
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 | ENSP00000452762 | ||||||||||||||||||
InnateDB Gene | IDBG-23927 (ETFA) | ||||||||||||||||||
Protein Structure |
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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.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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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 |
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PFAM |
PF01012
PF00766 |
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PRINTS | |||||||||||||||||||
PIRSF |
PIRSF000089
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SMART |
SM00893
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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_000117 | ||||||||||||||||||
HUGO | HGNC:3481 | ||||||||||||||||||
OMIM | 608053 | ||||||||||||||||||
CCDS | CCDS32299 | ||||||||||||||||||
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 | ||||||||||||||||||