Version 5.4
Homo sapiens Gene: ETFDH
Summary
InnateDB Gene IDBG-42940.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ETFDH
Gene Name electron-transferring-flavoprotein dehydrogenase
Synonyms ETFQO; MADD
Species Homo sapiens
Ensembl Gene ENSG00000171503
Encoded Proteins
IDBP-42944
electron-transferring-flavoprotein dehydrogenase
IDBP-481677
electron-transferring-flavoprotein dehydrogenase
IDBP-485029
electron-transferring-flavoprotein dehydrogenase
IDBP-484552
electron-transferring-flavoprotein dehydrogenase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Electron-transferring-flavoprotein dehydrogenase in the inner mitochondrial membrane accepts electrons from electron-transfer flavoprotein which is located in the mitochondrial matrix and reduces ubiquinone in the mitochondrial membrane. The protein is synthesized as a 67-kDa precursor which is targeted to mitochondria and processed in a single step to a 64-kDa mature form located in the mitochondrial membrane. Deficiency in electron-transferring-flavoprotein dehydrogenase have been demonstrated in some patients with type II glutaricacidemia. [provided by RefSeq, Jul 2008]
This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:158672125-158709623
Strand Forward strand
Band q32.1
Transcripts
ENST00000307738 ENSP00000303552
ENST00000436096
ENST00000511912 ENSP00000426638
ENST00000512251 ENSP00000425661
ENST00000507475 ENSP00000422735
ENST00000510353
ENST00000506422
ENST00000514148
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000027809
View Gene Order
ENSBTAG00000016679
Not yet available
Pathways
NETPATH
REACTOME
REACT_22393
Respiratory electron transport pathway
REACT_6305
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. pathway
REACT_111083
The citric acid (TCA) cycle and respiratory electron transport pathway
REACT_111217
Metabolism pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt Q16134
TrEMBL B4DEQ0 D6RAD5
UniProt Splice Variant
Entrez Gene 2110
UniGene Hs.155729 Hs.630020
RefSeq NM_001281737 NM_001281738 NM_004453
HUGO HGNC:3483
OMIM 231675
CCDS CCDS64090 CCDS3800
HPRD 01978
IMGT
EMBL AC107219 AK293737 AK304838 BC011890 BX538129 S69232
GenPept AAC60628 AAH11890 BAG57161 BAG65581 CAD98030
RNA Seq Atlas 2110

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