Human Gene ETFA (ENST00000557943.6_7) from GENCODE V47lift37
  Description: electron transfer flavoprotein subunit alpha, transcript variant 1 (from RefSeq NM_000126.4)
Gencode Transcript: ENST00000557943.6_7
Gencode Gene: ENSG00000140374.17_13
Transcript (Including UTRs)
   Position: hg19 chr15:76,507,694-76,603,810 Size: 96,117 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr15:76,508,900-76,603,729 Size: 94,830 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:76,507,694-76,603,810)mRNA (may differ from genome)Protein (333 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ETFA_HUMAN
DESCRIPTION: RecName: Full=Electron transfer flavoprotein subunit alpha, mitochondrial; Short=Alpha-ETF; Flags: Precursor;
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).
COFACTOR: Binds 1 FAD per dimer.
SUBUNIT: Heterodimer of an alpha and a beta subunit.
SUBCELLULAR LOCATION: Mitochondrion matrix.
PTM: The N-terminus is blocked.
DISEASE: 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.
SIMILARITY: Belongs to the ETF alpha-subunit/FixB family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ETFA";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ETFA
Diseases sorted by gene-association score: glutaric acidemia iic* (761), multiple acyl-coa dehydrogenase deficiency, severe neonatal type* (202), multiple acyl-coa dehydrogenase deficiency, mild type* (157), transverse colon cancer (15), short-rib thoracic dysplasia 2 with or without polydactyly (12), gangliosidosis gm2 (8), riboflavin deficiency (8), sandhoff disease, infantile, juvenile, and adult forms (7), renal-hepatic-pancreatic dysplasia (6), mucolipidosis iv (5), tay-sachs disease (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 67.91 RPKM in Heart - Left Ventricle
Total median expression: 1214.96 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -30.7081-0.379 Picture PostScript Text
3' UTR -343.401206-0.285 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001308 - ETF_a
IPR014730 - ETF_a/b_N
IPR014731 - ETF_asu_C
IPR018206 - ETF_asu_C_CS
IPR014729 - Rossmann-like_a/b/a_fold

Pfam Domains:
PF00766 - Electron transfer flavoprotein FAD-binding domain
PF01012 - Electron transfer flavoprotein domain

SCOP Domains:
52402 - Adenine nucleotide alpha hydrolases-like
52467 - DHS-like NAD/FAD-binding domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1EFV - X-ray MuPIT 1T9G - X-ray MuPIT 2A1T - X-ray MuPIT 2A1U - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P13804
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0009055 electron carrier activity
GO:0016491 oxidoreductase activity
GO:0050660 flavin adenine dinucleotide binding

Biological Process:
GO:0022900 electron transport chain
GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix


-  Descriptions from all associated GenBank mRNAs
  AK292979 - Homo sapiens cDNA FLJ76486 complete cds, highly similar to Homo sapiens electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II) (ETFA), nuclear gene encoding mitochondrial protein, mRNA.
AK300044 - Homo sapiens cDNA FLJ50859 complete cds, highly similar to Electron transfer flavoprotein subunit alpha, mitochondrial precursor.
BC015526 - Homo sapiens electron-transfer-flavoprotein, alpha polypeptide, mRNA (cDNA clone MGC:9356 IMAGE:3852346), complete cds.
GQ891449 - Homo sapiens clone HEL-S-170 epididymis secretory sperm binding protein mRNA, complete cds.
BC029995 - Homo sapiens electron-transfer-flavoprotein, alpha polypeptide, mRNA (cDNA clone IMAGE:5167176).
J04058 - Human electron transfer flavoprotein alpha-subunit mRNA, complete cds.
BC095457 - Homo sapiens electron-transfer-flavoprotein, alpha polypeptide, mRNA (cDNA clone MGC:111347 IMAGE:30552923), complete cds.
KJ891124 - Synthetic construct Homo sapiens clone ccsbBroadEn_00518 ETFA gene, encodes complete protein.
KR709379 - Synthetic construct Homo sapiens clone CCSBHm_00001612 ETFA (ETFA) mRNA, encodes complete protein.
KR709380 - Synthetic construct Homo sapiens clone CCSBHm_00001613 ETFA (ETFA) mRNA, encodes complete protein.
KR709381 - Synthetic construct Homo sapiens clone CCSBHm_00001616 ETFA (ETFA) mRNA, encodes complete protein.
KR709382 - Synthetic construct Homo sapiens clone CCSBHm_00001619 ETFA (ETFA) mRNA, encodes complete protein.
BT009796 - Homo sapiens electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II) mRNA, complete cds.
AB529049 - Synthetic construct DNA, clone: pF1KB3634, Homo sapiens ETFA gene for electron-transfer-flavoprotein, alpha polypeptide, without stop codon, in Flexi system.
KU178046 - Homo sapiens electron-transfer-flavoprotein alpha polypeptide isoform 1 (ETFA) mRNA, partial cds.
KU178047 - Homo sapiens electron-transfer-flavoprotein alpha polypeptide isoform 2 (ETFA) mRNA, complete cds, alternatively spliced.
KU178048 - Homo sapiens electron-transfer-flavoprotein alpha polypeptide isoform 3 (ETFA) mRNA, partial cds, alternatively spliced.
BC034156 - Homo sapiens, clone IMAGE:4721519, mRNA.
JD160359 - Sequence 141383 from Patent EP1572962.
JD058540 - Sequence 39564 from Patent EP1572962.
LF332594 - JP 2014500723-A/140097: Polycomb-Associated Non-Coding RNAs.
MA568171 - JP 2018138019-A/140097: Polycomb-Associated Non-Coding RNAs.
LF209909 - JP 2014500723-A/17412: Polycomb-Associated Non-Coding RNAs.
LF332591 - JP 2014500723-A/140094: Polycomb-Associated Non-Coding RNAs.
LF332592 - JP 2014500723-A/140095: Polycomb-Associated Non-Coding RNAs.
LF332593 - JP 2014500723-A/140096: Polycomb-Associated Non-Coding RNAs.
LF205167 - JP 2014500723-A/12670: Polycomb-Associated Non-Coding RNAs.
D28380 - Homo sapiens mRNA for electron transfer flavoprotein, 5'UTR region.
MA568168 - JP 2018138019-A/140094: Polycomb-Associated Non-Coding RNAs.
MA568169 - JP 2018138019-A/140095: Polycomb-Associated Non-Coding RNAs.
MA568170 - JP 2018138019-A/140096: Polycomb-Associated Non-Coding RNAs.
MA440744 - JP 2018138019-A/12670: Polycomb-Associated Non-Coding RNAs.
MA445486 - JP 2018138019-A/17412: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P13804 (Reactome details) participates in the following event(s):

R-HSA-169260 Reducing equivalents from beta-oxidation of fatty acids transfer to ETF
R-HSA-169270 ETFDH oxidises ETF (reduced) to ETF, reduces CoQ to QH2
R-HSA-611105 Respiratory electron transport
R-HSA-163200 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B4DT43, ENST00000557943.1, ENST00000557943.2, ENST00000557943.3, ENST00000557943.4, ENST00000557943.5, ETFA_HUMAN, NM_000126, P13804, Q53XN3, uc325ktd.1, uc325ktd.2
UCSC ID: ENST00000557943.6_7
RefSeq Accession: NM_000126.4
Protein: P13804 (aka ETFA_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ETFA:
madd (Multiple Acyl-CoA Dehydrogenase Deficiency)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.