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

    Gene ID: 2108, updated on 8-Jul-2021

    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
    NEW
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    Genomic context

    See ETFA in Genome Data Viewer
    Location:
    15q24.2-q24.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (76215353..76311469, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (76507694..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 CRISPRi-validated cis-regulatory element chr15.2471 Neighboring gene Sharpr-MPRA regulatory region 228 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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.
    GeneReviews: Not available
    Multiple acyl-CoA dehydrogenase deficiency Compare labs

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

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

    NEW Try the new Transcript table

    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..101117
      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, ENST00000557943.6
      Conserved Domains (1) summary
      cl27641
      Location:3333
      ETF_alpha; Electron transfer flavoprotein FAD-binding domain
    2. NM_001127716.2NP_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, AC091100, 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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

      Range
      76215353..76311469 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_931766.3 RNA Sequence

      Related
      ENST00000267950.12
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