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Aliases for ETFA Gene

Aliases for ETFA Gene

  • Electron-Transfer-Flavoprotein, Alpha Polypeptide 2 3
  • Glutaric Aciduria II 2 3
  • Alpha-ETF 3 4
  • MADD 3 6
  • GA2 3 6
  • Electron Transfer Flavoprotein Subunit Alpha, Mitochondrial 3
  • Electron Transfer Flavoprotein, Alpha Polypeptide 3
  • Electron Transfer Flavoprotein Alpha-Subunit 3
  • EMA 3

External Ids for ETFA Gene

Previous GeneCards Identifiers for ETFA Gene

  • GC15M072396
  • GC15M069598
  • GC15M074084
  • GC15M074224
  • GC15M074295
  • GC15M076508
  • GC15M053265

Summaries for ETFA Gene

Entrez Gene Summary for ETFA Gene

  • 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 electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for ETFA Gene

ETFA (Electron-Transfer-Flavoprotein, Alpha Polypeptide) is a Protein Coding gene. Diseases associated with ETFA include multiple acyl-coa dehydrogenation deficiency, mild type and multiple acyl-coa dehydrogenation deficiency, severe neonatal type. Among its related pathways are Metabolism and Apoptosis and survival Caspase cascade. GO annotations related to this gene include electron carrier activity and flavin adenine dinucleotide binding.

UniProtKB/Swiss-Prot for ETFA Gene

  • 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)

Gene Wiki entry for ETFA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ETFA Gene

Genomics for ETFA Gene

Genomic Location for ETFA Gene

Start:
76,215,355 bp from pter
End:
76,311,472 bp from pter
Size:
96,118 bases
Orientation:
Minus strand

Genomic View for ETFA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ETFA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ETFA Gene

Proteins for ETFA Gene

  • Protein details for ETFA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13804-ETFA_HUMAN
    Recommended name:
    Electron transfer flavoprotein subunit alpha, mitochondrial
    Protein Accession:
    P13804
    Secondary Accessions:
    • B4DT43
    • Q53XN3

    Protein attributes for ETFA Gene

    Size:
    333 amino acids
    Molecular mass:
    35080 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692; Note=Binds 1 FAD per dimer.;
    Quaternary structure:
    • Heterodimer of an alpha and a beta subunit.

    Three dimensional structures from OCA and Proteopedia for ETFA Gene

    Alternative splice isoforms for ETFA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ETFA Gene

Proteomics data for ETFA Gene at MOPED

Post-translational modifications for ETFA Gene

No data available for DME Specific Peptides for ETFA Gene

Domains for ETFA Gene

Graphical View of Domain Structure for InterPro Entry

P13804

UniProtKB/Swiss-Prot:

ETFA_HUMAN :
  • P13804
Domain:
  • Domain I shares an identical polypeptide fold with the beta subunit ETFB though there is no sequence similarity.
Family:
  • Belongs to the ETF alpha-subunit/FixB family.
genes like me logo Genes that share domains with ETFA: view

No data available for Gene Families for ETFA Gene

Function for ETFA Gene

Molecular function for ETFA Gene

GENATLAS Biochemistry: electron transfer flavoprotein,alpha (32kDa),with the unstable variant T171I overreprinted in ACADVL deficient patients with mild childhood presentation
UniProtKB/Swiss-Prot 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)

Gene Ontology (GO) - Molecular Function for ETFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0009055 electron carrier activity IDA 10423253
GO:0016491 oxidoreductase activity IDA 10423253
GO:0050660 flavin adenine dinucleotide binding IDA 10423253
genes like me logo Genes that share ontologies with ETFA: view
genes like me logo Genes that share phenotypes with ETFA: view

miRNA for ETFA Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for ETFA Gene

Localization for ETFA Gene

Subcellular locations from UniProtKB/Swiss-Prot for ETFA Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ETFA Gene COMPARTMENTS Subcellular localization image for ETFA gene
Compartment Confidence
mitochondrion 5
endoplasmic reticulum 2
golgi apparatus 2
cytosol 1

Gene Ontology (GO) - Cellular Components for ETFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with ETFA: view

Pathways for ETFA Gene

genes like me logo Genes that share pathways with ETFA: view

Gene Ontology (GO) - Biological Process for ETFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022904 respiratory electron transport chain TAS --
GO:0044237 cellular metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with ETFA: view

Compounds for ETFA Gene

(1) HMDB Compounds for ETFA Gene

Compound Synonyms Cas Number PubMed IDs
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5

(1) Novoseek inferred chemical compound relationships for ETFA Gene

Compound -log(P) Hits PubMed IDs
acyl-coa 66.9 2
genes like me logo Genes that share compounds with ETFA: view

Transcripts for ETFA Gene

Unigene Clusters for ETFA Gene

Electron-transfer-flavoprotein, alpha polypeptide:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ETFA Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c
SP1: - - - - -
SP2: - -
SP3:
SP4: -
SP5:

Relevant External Links for ETFA Gene

GeneLoc Exon Structure for
ETFA
ECgene alternative splicing isoforms for
ETFA

Expression for ETFA Gene

mRNA expression in normal human tissues for ETFA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ETFA Gene

This gene is overexpressed in Heart - Left Ventricle (4.2) and Liver (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ETFA Gene

SOURCE GeneReport for Unigene cluster for ETFA Gene Hs.39925

genes like me logo Genes that share expressions with ETFA: view

No data available for mRNA Expression by UniProt/SwissProt for ETFA Gene

Orthologs for ETFA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ETFA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ETFA 35
  • 99.4 (n)
  • 99.4 (a)
ETFA 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ETFA 35
  • 93.39 (n)
  • 95.2 (a)
ETFA 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ETFA 35
  • 93.49 (n)
  • 94.59 (a)
ETFA 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Etfa 35
  • 91.69 (n)
  • 95.8 (a)
Etfa 16
Etfa 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 89 (a)
OneToMany
-- 36
  • 72 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia ETFA 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Etfa 35
  • 92.19 (n)
  • 95.2 (a)
chicken
(Gallus gallus)
Aves ETFA 35
  • 78.47 (n)
  • 84.78 (a)
ETFA 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ETFA 36
  • 85 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24246 35
tropical clawed frog
(Silurana tropicalis)
Amphibia etfa 35
  • 73.27 (n)
  • 78.98 (a)
Str.3137 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9018 35
zebrafish
(Danio rerio)
Actinopterygii etfa 35
  • 70.58 (n)
  • 80.72 (a)
etfa 36
  • 78 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004031 35
  • 59.96 (n)
  • 66.46 (a)
fruit fly
(Drosophila melanogaster)
Insecta wal 35
  • 63.22 (n)
  • 70.85 (a)
wal 36
  • 69 (a)
OneToOne
wal 37
  • 70 (a)
worm
(Caenorhabditis elegans)
Secernentea CELE_F27D4.1 35
  • 62.94 (n)
  • 64.54 (a)
F27D4.1 36
  • 61 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL054W 35
  • 50.72 (n)
  • 53.4 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AIM45 35
  • 52.06 (n)
  • 47.73 (a)
AIM45 36
  • 44 (a)
OneToOne
AIM45 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E14037g 35
  • 55.91 (n)
  • 50.95 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.11363 35
thale cress
(Arabidopsis thaliana)
eudicotyledons ETFALPHA 35
  • 57.69 (n)
  • 53.21 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.4786 35
corn
(Zea mays)
Liliopsida Zm.9255 35
rice
(Oryza sativa)
Liliopsida Os.14084 35
Os03g0835400 35
  • 55.42 (n)
  • 53.31 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.7134 35
bread mold
(Neurospora crassa)
Ascomycetes NCU08004 35
  • 54.14 (n)
  • 54.97 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC27D7.06 35
  • 52.24 (n)
  • 44.51 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2139 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8750 36
  • 66 (a)
OneToOne
Species with no ortholog for ETFA:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ETFA Gene

ENSEMBL:
Gene Tree for ETFA (if available)
TreeFam:
Gene Tree for ETFA (if available)

Paralogs for ETFA Gene

genes like me logo Genes that share paralogs with ETFA: view

No data available for Paralogs for ETFA Gene

Variants for ETFA Gene

Sequence variations from dbSNP and Humsavar for ETFA Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs883993 -- 76,222,779(+) ACAAA(C/G)AGGAG intron-variant
rs959991 -- 76,229,457(+) ACAAT(C/T)CAGCC intron-variant
rs1047357 -- 76,229,699(-) TTTTA(C/T)AGTTG intron-variant
rs1518964 -- 76,228,335(-) tggtg(A/G)tacac intron-variant
rs1533600 -- 76,217,732(-) TGATA(C/T)TTTGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ETFA Gene

Variant ID Type Subtype PubMed ID
esv2749895 CNV Deletion 23290073
esv2749898 CNV Deletion 23290073
nsv833057 CNV Loss 17160897
nsv1618 CNV Insertion 18451855
esv1180027 CNV Insertion 17803354
nsv527608 CNV Loss 19592680
nsv520069 CNV Loss 19592680

Relevant External Links for ETFA Gene

HapMap Linkage Disequilibrium report
ETFA
Human Gene Mutation Database (HGMD)
ETFA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ETFA Gene

Disorders for ETFA Gene

(1) OMIM Diseases for ETFA Gene (608053)

UniProtKB/Swiss-Prot

ETFA_HUMAN
  • Glutaric aciduria 2A (GA2A) [MIM:231680]: 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. {ECO:0000269 PubMed:1430199, ECO:0000269 PubMed:1882842}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for ETFA Gene

(1) Novoseek inferred disease relationships for ETFA Gene

Disease -log(P) Hits PubMed IDs
shock 10.9 2

Genatlas disease for ETFA Gene

glutaric aciduria IIA,early onset

Relevant External Links for ETFA

Genetic Association Database (GAD)
ETFA
Human Genome Epidemiology (HuGE) Navigator
ETFA
genes like me logo Genes that share disorders with ETFA: view

Publications for ETFA Gene

  1. Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II -- and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient. (PMID: 1882842) Indo Y. … Tanaka K. (Am. J. Hum. Genet. 1991) 3 4 23
  2. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. (PMID: 12815589) Olsen R.K.J. … Gregersen N. (Hum. Mutat. 2003) 3 4 23
  3. Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients. (PMID: 1430199) Freneaux E. … Rhead W. (J. Clin. Invest. 1992) 3 4
  4. A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation. (PMID: 10356313) Bross P. … Gregersen N. (Mol. Genet. Metab. 1999) 3 4
  5. Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13: the mouse homologs of genes responsible for glutaric acidemia type II in human. (PMID: 8617498) White R.A. … Koeller D.M. (Genomics 1996) 3 23

Products for ETFA Gene

Sources for ETFA Gene

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