• Gene id: 2108

Gene Summary

• Gene Symbol: ETFA   Gene   UCSC   Ensembl
• Aliases: EMA, GA2, MADD
• Gene name: electron transfer flavoprotein subunit alpha
• Alternate names: electron transfer flavoprotein subunit alpha, mitochondrial, alpha-ETF, electron transfer flavoprotein alpha subunit, electron transfer flavoprotein, alpha polypeptide, epididymis secretory sperm binding protein, glutaric aciduria II,
• Gene location: 15q24.2-q24.3 (76311468: 76215352)     Exons: 13     NC_000015.10
• Gene summary(Entrez): 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
• OMIM: 612846

Protein Summary

• Protein general information: P13804  
  • Name: Electron transfer flavoprotein subunit alpha, mitochondrial (Alpha ETF)
  • Length: 333  
  • Mass: 35080
• Sequence:

  MFRAAAPGQLRRAASLLRFQSTLVIAEHANDSLAPITLNTITAATRLGGEVSCLVAGTKCDKVAQDLCKVAGIAK
  VLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYA
  GNALCTVKCDEKVKVFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGGRGL
  KSGENFKLLYDLADQLHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKTIVAIN
  KDPEAPIFQVADYGIVADLFKVVPEMTEILKKK

• Structural information:
  • Interpro: IPR029035  IPR014730  IPR001308  IPR033947  IPR014731   IPR018206  IPR014729  
  • Prosite: PS00696
  • CDD: cd01715
  • PDB: 1EFV 1T9G 2A1T 2A1U
  • PDBsum: 1EFV 1T9G 2A1T 2A1U
  • DIP: 6161
  • STRING: ENSP00000452762
• Other Databases: GeneCards:  ETFA  Malacards:  ETFA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033539	fatty acid beta-oxidation using acyl-CoA dehydrogenase	IBA	biological process
GO:0050660	flavin adenine dinucleotide binding	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0009055	electron transfer activity	IBA	molecular function
GO:0033539	fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA	biological process
GO:0009055	electron transfer activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050660	flavin adenine dinucleotide binding	IEA	molecular function
GO:0009055	electron transfer activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0022904	respiratory electron transport chain	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0016491	oxidoreductase activity	IDA	molecular function
GO:0016491	oxidoreductase activity	IDA	molecular function
GO:0050660	flavin adenine dinucleotide binding	IDA	molecular function
GO:0050660	flavin adenine dinucleotide binding	IDA	molecular function
GO:0009055	electron transfer activity	IDA	molecular function
GO:0005739	mitochondrion	HDA	cellular component

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
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq