ETFDH - electron transfer flavoprotein dehydrogenase Gene
Also Known as MADD; ETFQO
Species: Homo sapiens
About ETFDH
This gene has 46 transcripts (splice variants), 206 orthologues and is associated with 4 phenotypes. Ubiquitous expression in liver (RPKM 42.8), duodenum (RPKM 28.5) and 25 other tissues.
Summary
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]
ETFDH Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001281737.2 | NP_001268666.1 | electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial isoform 2 |
| NM_001281738.1 | NP_001268667.1 | electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial isoform 3 |
| NM_004453.4 | NP_004444.2 | electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial isoform 1 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables 4 iron, 4 sulfur cluster binding |
IDA
IDA: Inferred from direct assay
|
18037314 | GOA |
| enables electron transfer activity |
IDA
IDA: Inferred from direct assay
|
8306995 | GOA |
| enables electron-transferring-flavoprotein dehydrogenase activity |
IDA
IDA: Inferred from direct assay
|
8306995 | GOA |
| enables oxidoreductase activity |
IDA
IDA: Inferred from direct assay
|
14640977 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32296183 | GOA |
| enables quinone binding |
IDA
IDA: Inferred from direct assay
|
14640977 | GOA |
| enables ubiquinone binding |
IDA
IDA: Inferred from direct assay
|
14640977 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in electron transport chain |
IDA
IDA: Inferred from direct assay
|
8306995 | GOA |
| involved in fatty acid beta-oxidation using acyl-CoA dehydrogenase |
IMP
IMP: Inferred from mutant phenotype
|
17412732 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in mitochondrial inner membrane |
IDA
IDA: Inferred from direct assay
|
8306995 | GOA |
| located in mitochondrial membrane |
IDA
IDA: Inferred from direct assay
|
12049629 | GOA |
ETFDH Protein Structure
NAD_binding_8: NAD(P)-binding Rossmann-like domain (73 - 116)
ETF_QO: Electron transfer flavoprotein-ubiquinone oxidoreductase, 4Fe-4S (463 - 570)
- 0
- 100
- 200
- 300
- 400
- 500
- 617 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial |
|
ETFDH Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
ETFDH | Q16134 | KRTAP11-1 | Homo sapiens | Q8IUC1 | 32296183 | |
|
Intra
|
ETFDH | Q16134 | KRTAP11-1 | Homo sapiens | Q8IUC1 | 32296183 | |
|
Intra
|
ETFDH | Q16134 | KRTAP11-1 | Homo sapiens | Q8IUC1 | 32296183 | |
|
Intra
|
ETFDH | Q16134 | TRIM69 | Homo sapiens | Q86WT6-2 | 32296183 | |
|
Intra
|
ETFDH | Q16134 | TRIM69 | Homo sapiens | Q86WT6-2 | 32296183 | |
|
Intra
|
ETFDH | Q16134 | TRIM69 | Homo sapiens | Q86WT6-2 | 32296183 | |
|
Intra
|
ETFDH | Q16134 | KRTAP13-2 | Homo sapiens | Q52LG2 | 32296183 | |
|
Intra
|
ETFDH | Q16134 | KRTAP13-2 | Homo sapiens | Q52LG2 | 32296183 | |
|
Intra
|
ETFDH | Q16134 | KRTAP13-2 | Homo sapiens | Q52LG2 | 32296183 | |
|
Intra
|
ETFDH | Q16134 | MYH7B | Homo sapiens | A7E2Y1-2 | 32296183 | |
|
Intra
|
ETFDH | Q16134 | MYH7B | Homo sapiens | A7E2Y1-2 | 32296183 | |
|
Intra
|
ETFDH | Q16134 | GSC2 | Homo sapiens | O15499 | 32296183 | |
|
Intra
|
ETFDH | Q16134 | GSC2 | Homo sapiens | O15499 | 32296183 | |
|
Intra
|
ETFDH | Q16134 | ZNF581 | Homo sapiens | Q9P0T4 | 32296183 | |
|
Intra
|
ETFDH | Q16134 | ZNF581 | Homo sapiens | Q9P0T4 | 32296183 | |
|
Intra
|
ETFDH | Q16134 | ZNF581 | Homo sapiens | Q9P0T4 | 32296183 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
|
| Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type |
|
|
| Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type |
|
|
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
|
| Riboflavin Deficiency |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Citrullinemia, Classic |
|
|
| Carnitine Deficiency, Systemic Primary |
|
|
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
|
| Fazio-Londe Disease |
|
|
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
|
| Progressive Bulbar Palsy |
|
|
| Brown-Vialetto-Van Laere Syndrome |
|
|
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
|
| Nuclear Type Mitochondrial Complex I Deficiency |
|
|
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
|
| Carnitine-Acylcarnitine Translocase Deficiency |
|
|
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
|
| Glutaric Acidemia I |
|
|
| Abdominal Obesity-Metabolic Syndrome 1 |
|
|
| Reye Syndrome |
|
|
| Myopathy |
|
|
| Chanarin-Dorfman Syndrome |
|
|
| Isovaleric Acidemia |
|
|
| Mitochondrial Trifunctional Protein Deficiency |
|
|
| Microcephaly And Chorioretinopathy 2 |
|
|
| Alpha-Methylacetoacetic Aciduria |
|
|
| Kearns-Sayre Syndrome |
|
|
| Mitochondrial Complex Ii Deficiency |
|
|
| Cardiofaciocutaneous Syndrome 1 |
|
|
| Propionic Acidemia |
|
|
| 3-Methylglutaconic Aciduria, Type Iii |
|
|
| Methylmalonic Acidemia |
|
|
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
|
| Mitochondrial Myopathy |
|
|
| Rasopathy |
|
|
| Leigh Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | ETFDH | VGNC | VGNC:40489 |
| Macaca mulatta | ETFDH | VGNC | VGNC:72438 |
| Mus musculus | ETFDH | MGD | MGI:106100 |
| Bos taurus | ETFDH | VGNC | VGNC:28621 |
| Rattus norvegicus | ETFDH | RGD | RGD:735052 |
| Felis catus | ETFDH | VGNC | VGNC:61976 |
| Others | ETFDH | NCBI |