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Gene Model: Etfa

NomenclatureGenomic Location
SymbolEtfaChromosome2
NameElectron transferring flavoprotein,
alpha polypeptide		Linkage mapunknown
SpeciesDracomimus familiarisGenome CoordinatesChr2: 36 Mbp

Molecular Function

The electron transfer flavoprotein serves as a specific electron acceptor for several dehydrogenases, including five acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase. It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase).

Molecular Function Terms:

binding
   cofactor binding
      coenzyme binding
         flavin adenine dinucleotide binding

catalytic activity
   oxidoreductase activity

electron carrier activity

Human Disease Association

Defects in ETFA are the cause of glutaric aciduria type 2A (GA2A) [MIM:231680]; also known as glutaricaciduria IIA. GA2A is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.

Predicted Transcript
     1 TTGCTTCATCGGTTCCAGAGCACCCTAGTAATAGCTGAACATGCCAATGAGACTCTTACG
    61 CCTATTACGTTAAATACTATCACCGCAGCCAAACGTATTGGAGGTGAAGTGTCTTGTTTA
   121 GTAGCTGGCACCAACTGTGAAAAGGTGGCCCAGGAGTTGAGCAAAGTGCAAGGGGTGGCC
   181 AAAGTTCTCCTGGCCCAGCATGACGCCTTCAAGGGACTTCTGCCTGAGGAGCTGACACCA
   241 TTGATCCTGGCAACTCAGAAGCAGTTCAATTACACCCACATCTGTGCCGGAGCCTCTGCC
   301 TTTGGGAAGAGTCTTCTTCCCAGAGTAGCAGCAAAGCTCGATGTTGCTCCTGTCTCAGAC
   361 ATCATTGACATTAAATCTCCTGACACTTTTGTCAGGACAATTTATGCAGGCAATGCTCTG
   421 TGTACAGTGAAGTGTGAGGAGAAAATAAAAGTGTTCTCTGTGCGAGGCACTTCCTTTGAG
   481 GCTGCCCCAGTGAGTGGTGGTGGGGCTAGTGTAGAAAACGAAATAGTATCTGCTGCTTCG
   541 CCAGTGGGTCGATCTGAATGGATTGAACAAAAGCTGACGAAAAGCGACCGTCCAGAACTG
   601 ACCAGTGCAAAGGTTGTTGTATCGGGCGGCCGAGGCTTGAAGAGTGGAGACAACTTTAAA
   661 CTGCTTTATGACCTGGCAGATCAGTTACATGCTGCAGTTGGTGCTTCTCGTGCAGCTGTG
   721 GATGCAGGCTTTGTCCCCAATGACATGCAGGTTGGACAGACTGGCAAAATCGTAGCCCCG

Predicted Protein Product
LLHRFQSTLVIAEHANETLTPITLNTITAAKRIGGEVSCLVAGTNCEKVAQELSKVQGVA
KVLLAQHDAFKGLLPEELTPLILATQKQFNYTHICAGASAFGKSLLPRVAAKLDVAPVSD
IIDIKSPDTFVRTIYAGNALCTVKCEEKIKVFSVRGTSFEAAPVSGGGASVENEIVSAAS
PVGRSEWIEQKLTKSDRPELTSAKVVVSGGRGLKSGDNFKLLYDLADQLHAAVGASRAAV
DAGFVPNDMQVGQTGKIVAP
Protein Alignment to Mouse
sp|Q99LC5|ETFA_MOUSE Electron transfer flavoprotein subunit alpha,
            mitochondrial OS=Mus musculus GN=Etfa PE=1 SV=2
      MGI:106092 Etfa electron transferring flavoprotein, alpha polypeptide (Chr 9)
        Length = 333

 Score = 1048 (374.0 bits), Expect = 1.3e-106, P = 1.3e-106
 Identities = 208/259 (80%), Positives = 226/259 (87%)

Query:     2 LHRFQSTLVIAEHANETLTPITLNTITAAKRIGGEVSCLVAGTNCEKVAQELSKVQGVAK 61
             L RFQSTLVIAEHAN++L PITLNTITAA R+GGEVSCLVAGT C+KV Q+L KV GVAK
Sbjct:    16 LLRFQSTLVIAEHANDSLAPITLNTITAAGRLGGEVSCLVAGTKCDKVVQDLCKVAGVAK 75

Query:    62 VLLAQHDAFKGLLPEELTPLILATQKQFNYTHICAGASAFGKSLLPRVAAKLDVAPVSDI 121
             VL+AQHDA+KGLLPEELTPLIL TQKQF+YTHICAGASAFGK+LLPRVAAKL+VAPVSDI
Sbjct:    76 VLVAQHDAYKGLLPEELTPLILETQKQFSYTHICAGASAFGKNLLPRVAAKLNVAPVSDI 135

Query:   122 IDIKSPDTFVRTIYAGNALCTVKCEEKIKVFSVRGTSFEAAPVSGGGASVENEIVSAASP 181
             I+IKSPDTFVRTIYAGNALCTVKC+EK+KVFSVRGTSFEAA  SGG AS E     ++S 
Sbjct:   136 IEIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFEAAATSGGSASSEK--APSSSS 193

Query:   182 VGRSEWIEQKLTKSDRPELTSAKVVVSGGRGLKSGDNFKLLYDLADQLHXXXXXXXXXXX 241
             VG SEW++QKLTKSDRPELT AKVVVSGGRGLKSG+NFKLLYDLADQLH           
Sbjct:   194 VGISEWLDQKLTKSDRPELTGAKVVVSGGRGLKSGENFKLLYDLADQLHAAVGASRAAVD 253

Query:   242 XXFVPNDMQVGQTGKIVAP 260
               FVPNDMQVGQTGKIVAP
Sbjct:   254 AGFVPNDMQVGQTGKIVAP 272