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ETFA electron transfer flavoprotein subunit alpha [ Homo sapiens (human) ]

Gene ID: 2108, updated on 3-Mar-2019

Summary

Official Symbol
ETFAprovided by HGNC
Official Full Name
electron transfer flavoprotein subunit alphaprovided by HGNC
Primary source
HGNC:HGNC:3481
See related
Ensembl:ENSG00000140374 MIM:608053
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EMA; GA2; MADD
Summary
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]
Expression
Ubiquitous expression in liver (RPKM 95.3), heart (RPKM 73.2) and 25 other tissues See more
Orthologs

Genomic context

See ETFA in Genome Data Viewer
Location:
15q24.2-q24.3
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (76216228..76311469, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (76508628..76603810, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene F-box protein 22 Neighboring gene neuregulin 4 Neighboring gene transmembrane protein 266 Neighboring gene uncharacterized LOC101929439 Neighboring gene TYRO3P protein tyrosine kinase pseudogene Neighboring gene transfer RNA-Lys (CTT) 16-1 Neighboring gene S-phase cyclin A associated protein in the ER Neighboring gene ISL LIM homeobox 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Glutaric aciduria, type 2
MedGen: C0268596 OMIM: 231680 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of electron-transfer-flavoprotein, alpha polypeptide (ETFA) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
electron transfer activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
electron transfer activity IDA
Inferred from Direct Assay
more info
PubMed 
flavin adenine dinucleotide binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
flavin adenine dinucleotide binding IDA
Inferred from Direct Assay
more info
PubMed 
oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidoreductase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
fatty acid beta-oxidation using acyl-CoA dehydrogenase IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty acid beta-oxidation using acyl-CoA dehydrogenase IDA
Inferred from Direct Assay
more info
PubMed 
respiratory electron transport chain TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion HDA PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
electron transfer flavoprotein subunit alpha, mitochondrial
Names
alpha-ETF
electron transfer flavoprotein alpha subunit
electron transfer flavoprotein, alpha polypeptide
epididymis secretory sperm binding protein
glutaric aciduria II

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007077.2 RefSeqGene

    Range
    5001..100183
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000126.4NP_000117.1  electron transfer flavoprotein subunit alpha, mitochondrial isoform a

    See identical proteins and their annotated locations for NP_000117.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AA557337, AC091100, AK292979, BG261160
    Consensus CDS
    CCDS32299.1
    UniProtKB/Swiss-Prot
    P13804
    UniProtKB/TrEMBL
    A0A0S2Z3L0
    Related
    ENSP00000452762.1, ENST00000557943.5
    Conserved Domains (1) summary
    cl27641
    Location:3333
    ETF_alpha; Electron transfer flavoprotein FAD-binding domain
  2. NM_001127716.1NP_001121188.1  electron transfer flavoprotein subunit alpha, mitochondrial isoform b

    See identical proteins and their annotated locations for NP_001121188.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AA557337, AK292979, BG261160, BU176141
    Consensus CDS
    CCDS45311.1
    UniProtKB/Swiss-Prot
    P13804
    Related
    ENSP00000399273.2, ENST00000433983.6
    Conserved Domains (2) summary
    cd01715
    Location:13140
    ETF_alpha; The electron transfer flavoprotein (ETF) serves as a specific electron acceptor for various mitochondrial dehydrogenases. ETF transfers electrons to the main respiratory chain via ETF-ubiquinone oxidoreductase. ETF is an heterodimer that consists of an ...
    pfam00766
    Location:162244
    ETF_alpha; Electron transfer flavoprotein FAD-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    76216228..76311469 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_931766.3 RNA Sequence

    Related
    ENST00000267950.12
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