Version 5.4
Homo sapiens Gene: ETFA
Summary
InnateDB Gene IDBG-23927.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ETFA
Gene Name electron-transfer-flavoprotein, alpha polypeptide
Synonyms EMA; GA2; MADD
Species Homo sapiens
Ensembl Gene ENSG00000140374
Encoded Proteins
IDBP-23929
electron-transfer-flavoprotein, alpha polypeptide
IDBP-378211
electron-transfer-flavoprotein, alpha polypeptide
IDBP-598439
electron-transfer-flavoprotein, alpha polypeptide
IDBP-588153
electron-transfer-flavoprotein, alpha polypeptide
IDBP-590503
electron-transfer-flavoprotein, alpha polypeptide
IDBP-588257
electron-transfer-flavoprotein, alpha polypeptide
IDBP-591680
electron-transfer-flavoprotein, alpha polypeptide
IDBP-598350
electron-transfer-flavoprotein, alpha polypeptide
IDBP-599660
electron-transfer-flavoprotein, alpha polypeptide
IDBP-596352
electron-transfer-flavoprotein, alpha polypeptide
IDBP-599503
electron-transfer-flavoprotein, alpha polypeptide
IDBP-586958
electron-transfer-flavoprotein, alpha polypeptide
IDBP-746658
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:76215355-76311472
Strand Reverse strand
Band q24.3
Transcripts
ENST00000267950 ENSP00000267950
ENST00000433983 ENSP00000399273
ENST00000559386 ENSP00000452777
ENST00000560309 ENSP00000453753
ENST00000561092
ENST00000560345 ENSP00000453017
ENST00000559758
ENST00000558803
ENST00000560816
ENST00000559075
ENST00000560044 ENSP00000452942
ENST00000560899 ENSP00000453422
ENST00000560595 ENSP00000453345
ENST00000559973 ENSP00000454194
ENST00000559602 ENSP00000452659
ENST00000557975
ENST00000560179
ENST00000560726 ENSP00000453098
ENST00000557943 ENSP00000452762
ENST00000565910 ENSP00000458001
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000032314
View Gene Order
ENSBTAG00000012490
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
TrEMBL H0YL83
UniProt Splice Variant
Entrez Gene 2108
UniGene Hs.39925 Hs.708509
RefSeq NM_000126 NM_001127716
HUGO HGNC:3481
OMIM 608053
CCDS CCDS32299 CCDS45311
HPRD 01979
IMGT
EMBL AC027243 AC091100
GenPept
RNA Seq Atlas 2108

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