• Gene id: 2110

Gene Summary

• Gene Symbol: ETFDH   Gene   UCSC   Ensembl
• Aliases: ETFQO, MADD
• Gene name: electron transfer flavoprotein dehydrogenase
• Alternate names: electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial, ETF dehydrogenase, ETF-QO, ETF-ubiquinone oxidoreductase, electron-transferring-flavoprotein dehydrogenase, mutant electron transfer flavoprotein dehydrogenase,
• Gene location: 4q32.1 (158672100: 158709622)     Exons: 14     NC_000004.12
• Gene summary(Entrez): 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
• OMIM: 231675

Protein Summary

• Protein general information: Q16134  
  • Name: Electron transfer flavoprotein ubiquinone oxidoreductase, mitochondrial (ETF QO) (ETF ubiquinone oxidoreductase) (EC 1.5.5.1) (Electron transferring flavoprotein dehydrogenase) (ETF dehydrogenase)
  • Length: 617  
  • Mass: 68495
• Sequence:

  MLVPLAKLSCLAYQCFHALKIKKNYLPLCATRWSSTSTVPRITTHYTIYPRDKDKRWEGVNMERFAEEADVVIVG
  AGPAGLSAAVRLKQLAVAHEKDIRVCLVEKAAQIGAHTLSGACLDPGAFKELFPDWKEKGAPLNTPVTEDRFGIL
  TEKYRIPVPILPGLPMNNHGNYIVRLGHLVSWMGEQAEALGVEVYPGYAAAEVLFHDDGSVKGIATNDVGIQKDG
  APKATFERGLELHAKVTIFAEGCHGHLAKQLYKKFDLRANCEPQTYGIGLKELWVIDEKNWKPGRVDHTVGWPLD
  RHTYGGSFLYHLNEGEPLVALGLVVGLDYQNPYLSPFREFQRWKHHPSIRPTLEGGKRIAYGARALNEGGFQSIP
  KLTFPGGLLIGCSPGFMNVPKIKGTHTAMKSGILAAESIFNQLTSENLQSKTIGLHVTEYEDNLKNSWVWKELYS
  VRNIRPSCHGVLGVYGGMIYTGIFYWILRGMEPWTLKHKGSDFERLKPAKDCTPIEYPKPDGQISFDLLSSVALS
  GTNHEHDQPAHLTLRDDSIPVNRNLSIYDGPEQRFCPAGVYEFVPVEQGDGFRLQINAQNCVHCKTCDIKDPSQN
  INWVVPEGGGGPAYNGM

• Structural information:
  • Protein Domains: (577..60-)
    (/note="4Fe-4S-ferredoxin-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00711"-)
  • Interpro: IPR017896  IPR040156  IPR036188  
  • Prosite: PS51379
  • STRING: ENSP00000426638
• Other Databases: GeneCards:  ETFDH  Malacards:  ETFDH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051539	4 iron, 4 sulfur cluster binding	IBA	molecular function
GO:0043783	oxidoreductase activity, oxidizing metal ions with flavin as acceptor	IBA	molecular function
GO:0004174	electron-transferring-flavoprotein dehydrogenase activity	IBA	molecular function
GO:0048039	ubiquinone binding	IBA	molecular function
GO:0031305	integral component of mitochondrial inner membrane	IBA	cellular component
GO:0022904	respiratory electron transport chain	IBA	biological process
GO:0009055	electron transfer activity	IBA	molecular function
GO:0004174	electron-transferring-flavoprotein dehydrogenase activity	IEA	molecular function
GO:0022900	electron transport chain	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004174	electron-transferring-flavoprotein dehydrogenase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0022904	respiratory electron transport chain	TAS	biological process
GO:0004174	electron-transferring-flavoprotein dehydrogenase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006979	response to oxidative stress	IEA	biological process
GO:0033539	fatty acid beta-oxidation using acyl-CoA dehydrogenase	IMP	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0022900	electron transport chain	IDA	biological process
GO:0022900	electron transport chain	IDA	biological process
GO:0004174	electron-transferring-flavoprotein dehydrogenase activity	IDA	molecular function
GO:0048039	ubiquinone binding	IDA	molecular function
GO:0031966	mitochondrial membrane	IDA	cellular component
GO:0016491	oxidoreductase activity	IDA	molecular function
GO:0009055	electron transfer activity	IDA	molecular function
GO:0051539	4 iron, 4 sulfur cluster binding	IDA	molecular function
GO:0048038	quinone binding	IDA	molecular function
GO:0004174	electron-transferring-flavoprotein dehydrogenase activity	IDA	molecular function
GO:0004174	electron-transferring-flavoprotein dehydrogenase activity	IDA	molecular function
GO:0031305	integral component of mitochondrial inner membrane	IDA	cellular component
GO:0009055	electron transfer activity	IDA	molecular function
GO:0050660	flavin adenine dinucleotide binding	ISS	molecular function
GO:0043783	oxidoreductase activity, oxidizing metal ions with flavin as acceptor	ISS	molecular function
GO:0006979	response to oxidative stress	ISS	biological process

Diseases

Associated diseases	References
Secondary hyperammonemia	KEGG:H01400
Glutaric acidemia	KEGG:H00178
Secondary hyperammonemia	KEGG:H01400
Glutaric acidemia	KEGG:H00178
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881