Version 5.4
Homo sapiens Protein: ETFB
Summary
InnateDB Protein IDBP-65820.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ETFB
Protein Name electron-transfer-flavoprotein, beta polypeptide
Synonyms MADD;
Species Homo sapiens
Ensembl Protein ENSP00000346173
InnateDB Gene IDBG-65816 (ETFB)
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 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:0000269PubMed:12815589, ECO:0000269PubMed:7912128}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Abundant in liver, heart and skeletal muscle. A weak expression is seen in the brain, placenta, lung, kidney and pancreas.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 10 [view]
Protein-Protein 9 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0009055 electron carrier activity
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:0043231 intracellular membrane-bounded organelle
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR014730 Electron transfer flavoprotein, alpha/beta-subunit, N-terminal
PFAM PF01012
PRINTS
PIRSF
SMART SM00893
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P38117
PhosphoSite PhosphoSite-P38117
TrEMBL
UniProt Splice Variant
Entrez Gene 2109
UniGene Hs.348531
RefSeq NP_001014763
HUGO HGNC:3482
OMIM 130410
CCDS CCDS33085
HPRD 00557
IMGT
EMBL AF370381 AF436658 AF436659 AF436660 AF436661 AF436662 AF436663 AK055285 BC093961 BC093963 CR456827 X71129 X76067
GenPept AAH93961 AAH93963 AAN03713 AAQ15217 BAG51494 CAA50441 CAB37832 CAG33108

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca