HUMAN:ETFD

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Species (Taxon ID)	Homo sapiens (Human). (taxon:9606)
Gene Name(s)	ETFDH
Protein Name(s)	Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial ETF-QO ETF-ubiquinone oxidoreductase Electron-transferring-flavoprotein dehydrogenase ETF dehydrogenase
External Links
UniProt Identifier	ETFD_HUMAN
UniProt Accessions	Q16134, Q7Z347,
EMBL	S69232, BX538129, AC107219, BC011890,
PIR	S41115,
RefSeq	NP_004444.2,
IntAct	Q16134,
Ensembl	ENST00000307738,
Pfam	PF05187,

Annotations

Qualifier	GO ID	GO term name	Reference	Evidence Code	with/from	Aspect	Notes	Status
	GO:0004174	electron-transferring-flavoprotein dehydrogenase activity	PMID:12049629^[1], PMID:14640977^[2], PMID:8306995^[3]	IDA: Inferred from Direct Assay		F	Seeded from UniProt.	complete
	GO:0009055	electron carrier activity	PMID:8306995^[3], PMID:12049629^[1]	IDA: Inferred from Direct Assay		F	Seeded from UniProt.	complete
	GO:0016491	oxidoreductase activity	PMID:14640977^[2]	IDA: Inferred from Direct Assay		F	Seeded from UniProt.	complete
	GO:0048038	quinone binding	PMID:14640977^[2]	IDA: Inferred from Direct Assay		F	Seeded from UniProt.	complete
	GO:0048039	ubiquinone binding	PMID:14640977^[2]	IDA: Inferred from Direct Assay		F	Seeded from UniProt.	complete
	GO:0051539	4 iron, 4 sulfur cluster binding	PMID:18037314^[4]	IDA: Inferred from Direct Assay		F	Seeded from UniProt.	complete
	GO:0031305	integral to mitochondrial inner membrane	PMID:8306995^[3]	IDA: Inferred from Direct Assay		C	Seeded from UniProt.	complete
	GO:0031966	mitochondrial membrane	PMID:12049629^[1]	IDA: Inferred from Direct Assay		C	Seeded from UniProt.	complete
	GO:0022900	electron transport chain	PMID:8306995^[3], PMID:12049629^[1]	IDA: Inferred from Direct Assay		P	Seeded from UniProt.	complete
	GO:0006635	fatty acid beta-oxidation	PMID:17412732^[5]	IMP: Inferred from Mutant Phenotype		P		complete
	GO:0004174	electron-transferring-flavoprotein dehydrogenase activity	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR007859	F
	GO:0004174	electron-transferring-flavoprotein dehydrogenase activity	GO_REF:0000003	IEA: Inferred from Electronic Annotation	EC:1.5.5.1	F
	GO:0004174	electron-transferring-flavoprotein dehydrogenase activity	PMID:12049629^[1]	IDA: Inferred from Direct Assay		F
	GO:0004174	electron-transferring-flavoprotein dehydrogenase activity	PMID:14640977^[2]	IDA: Inferred from Direct Assay		F
	GO:0004174	electron-transferring-flavoprotein dehydrogenase activity	PMID:8306995^[3]	IDA: Inferred from Direct Assay		F
	GO:0005739	mitochondrion	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0496	C
	GO:0005743	mitochondrial inner membrane	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0999	C
	GO:0005743	mitochondrial inner membrane	GO_REF:0000023	IEA: Inferred from Electronic Annotation	SP_SL:SL-0168	C
	GO:0005759	mitochondrial matrix	Reactome:REACT_6169	TAS: Traceable Author Statement		C
	GO:0006810	transport	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0813	P
	GO:0006979	response to oxidative stress	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:Q921G7	P
	GO:0009055	electron carrier activity	PMID:12049629^[1]	IDA: Inferred from Direct Assay		F
	GO:0009055	electron carrier activity	PMID:8306995^[3]	IDA: Inferred from Direct Assay		F
	GO:0016020	membrane	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0472	C
	GO:0016491	oxidoreductase activity	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR000103	F
	GO:0016491	oxidoreductase activity	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0560	F
	GO:0016491	oxidoreductase activity	PMID:14640977^[2]	IDA: Inferred from Direct Assay		F
	GO:0022900	electron transport chain	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0249	P
	GO:0022900	electron transport chain	PMID:12049629^[1]	IDA: Inferred from Direct Assay		P
	GO:0022900	electron transport chain	PMID:8306995^[3]	IDA: Inferred from Direct Assay		P
	GO:0022904	respiratory electron transport chain	Reactome:REACT_22393	TAS: Traceable Author Statement		P
	GO:0022904	respiratory electron transport chain	Reactome:REACT_6305	TAS: Traceable Author Statement		P
	GO:0031305	integral to mitochondrial inner membrane	PMID:8306995^[3]	IDA: Inferred from Direct Assay		C
	GO:0031966	mitochondrial membrane	PMID:12049629^[1]	IDA: Inferred from Direct Assay		C
	GO:0033539	fatty acid beta-oxidation using acyl-CoA dehydrogenase	PMID:17412732^[5]	IMP: Inferred from Mutant Phenotype		P
	GO:0043783	oxidoreductase activity, oxidizing metal ions with flavin as acceptor	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:P55931	F
	GO:0046872	metal ion binding	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0479	F
	GO:0048038	quinone binding	PMID:14640977^[2]	IDA: Inferred from Direct Assay		F
	GO:0048039	ubiquinone binding	PMID:14640977^[2]	IDA: Inferred from Direct Assay		F
	GO:0050660	flavin adenine dinucleotide binding	PMID:17050691^[6]	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:P55931	F
	GO:0051536	iron-sulfur cluster binding	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR017896	F
	GO:0051536	iron-sulfur cluster binding	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0411	F
	GO:0051539	4 iron, 4 sulfur cluster binding	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0004	F
	GO:0051539	4 iron, 4 sulfur cluster binding	PMID:18037314^[4]	IDA: Inferred from Direct Assay		F
	GO:0055114	oxidation-reduction process	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR000103	P
	GO:0055114	oxidation-reduction process	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR007859	P
	GO:0055114	oxidation-reduction process	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0560	P
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 ^1.6 ^1.7 Simkovic M et al. (2002) Expression of human electron transfer flavoprotein-ubiquinone oxidoreductase from a baculovirus vector: kinetic and spectral characterization of the human protein. Biochem J 364: 659-67 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 ^2.3 ^2.4 ^2.5 ^2.6 ^2.7 Simkovic M & Frerman FE (2004) Alternative quinone substrates and inhibitors of human electron-transfer flavoprotein-ubiquinone oxidoreductase. Biochem J 378: 633-40 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 ^3.3 ^3.4 ^3.5 ^3.6 ^3.7 Goodman SI et al. (1994) Molecular cloning and expression of a cDNA encoding human electron transfer flavoprotein-ubiquinone oxidoreductase. Eur J Biochem 219: 277-86 PubMed GONUTS page
↑ ^4.0 ^4.1 Fielding AJ et al. (2008) Electron spin relaxation enhancement measurements of interspin distances in human, porcine, and Rhodobacter electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO). J Magn Reson 190: 222-32 PubMed GONUTS page
↑ ^5.0 ^5.1 Gempel K et al. (2007) The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain 130: 2037-44 PubMed GONUTS page
↑ Zhang J et al. (2006) Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool. Proc Natl Acad Sci U S A 103: 16212-7 PubMed GONUTS page

[PMID:12049629-0] 1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 ^1.6 ^1.7 Simkovic M et al. (2002) Expression of human electron transfer flavoprotein-ubiquinone oxidoreductase from a baculovirus vector: kinetic and spectral characterization of the human protein. Biochem J 364: 659-67 PubMed GONUTS page

[PMID:14640977-1] 2.0 ^2.1 ^2.2 ^2.3 ^2.4 ^2.5 ^2.6 ^2.7 Simkovic M & Frerman FE (2004) Alternative quinone substrates and inhibitors of human electron-transfer flavoprotein-ubiquinone oxidoreductase. Biochem J 378: 633-40 PubMed GONUTS page

[PMID:8306995-2] 3.0 ^3.1 ^3.2 ^3.3 ^3.4 ^3.5 ^3.6 ^3.7 Goodman SI et al. (1994) Molecular cloning and expression of a cDNA encoding human electron transfer flavoprotein-ubiquinone oxidoreductase. Eur J Biochem 219: 277-86 PubMed GONUTS page

[PMID:18037314-3] 4.0 ^4.1 Fielding AJ et al. (2008) Electron spin relaxation enhancement measurements of interspin distances in human, porcine, and Rhodobacter electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO). J Magn Reson 190: 222-32 PubMed GONUTS page

[PMID:17412732-4] 5.0 ^5.1 Gempel K et al. (2007) The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain 130: 2037-44 PubMed GONUTS page

[PMID:17050691-5] Zhang J et al. (2006) Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool. Proc Natl Acad Sci U S A 103: 16212-7 PubMed GONUTS page

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HUMAN:ETFD

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