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    ETFB electron transfer flavoprotein subunit beta [ Homo sapiens (human) ]

    Gene ID: 2109, updated on 10-Dec-2024

    Summary

    Official Symbol
    ETFBprovided by HGNC
    Official Full Name
    electron transfer flavoprotein subunit betaprovided by HGNC
    Primary source
    HGNC:HGNC:3482
    See related
    Ensembl:ENSG00000105379 MIM:130410; AllianceGenome:HGNC:3482
    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
    MADD; FP585
    Summary
    This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in liver (RPKM 75.6), fat (RPKM 65.8) and 25 other tissues See more
    Orthologs
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    Genomic context

    See ETFB in Genome Data Viewer
    Location:
    19q13.41
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (51345155..51366388, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (54433439..54455031, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (51848409..51869642, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene IgLON family member 5 Neighboring gene Sharpr-MPRA regulatory region 10915 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51825217-51825716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51831512-51832434 Neighboring gene V-set and immunoglobulin domain containing 10 like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10983 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10984 Neighboring gene VSIG10L antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15012 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:51869249-51870208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10985 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10986 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:51871167-51872126 Neighboring gene claudin domain containing 2 Neighboring gene uncharacterized LOC124904752 Neighboring gene natural killer cell granule protein 7

    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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify electron-transfer-flavoprotein beta polypeptide (ETFB), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify electron-transfer-flavoprotein beta polypeptide (ETFB), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify electron-transfer-flavoprotein beta polypeptide (ETFB), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify electron-transfer-flavoprotein beta polypeptide (ETFB), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of electron-transfer-flavoprotein, beta polypeptide (ETFB) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables electron transfer activity  
    enables electron transfer activity PubMed 
    enables protein binding PubMed 
    Component Evidence Code Pubs
    part_of electron transfer flavoprotein complex PubMed 
    located_in mitochondrial matrix PubMed 
    located_in mitochondrial matrix PubMed 
    located_in mitochondrial matrix  
    located_in mitochondrion PubMed 
    is_active_in mitochondrion  
    located_in mitochondrion  

    General protein information

    Preferred Names
    electron transfer flavoprotein subunit beta
    Names
    beta-ETF
    electron transfer flavoprotein beta subunit
    electron transfer flavoprotein, beta polypeptide
    electron-transferring-flavoprotein, beta polypeptide

    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_007115.1 RefSeqGene

      Range
      5031..26250
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001014763.1NP_001014763.1  electron transfer flavoprotein subunit beta isoform 2

      See identical proteins and their annotated locations for NP_001014763.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks the 5' exon but has an alternate 5' segment, as compared to variant 1. The encoded isoform (2) has a longer and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AF370381, AK055285, BG281641
      Consensus CDS
      CCDS33085.1
      UniProtKB/Swiss-Prot
      P38117
      Related
      ENSP00000346173.3, ENST00000354232.8
      Conserved Domains (1) summary
      cd01714
      Location:110301
      ETF_beta; 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 ...
    2. NM_001985.3NP_001976.1  electron transfer flavoprotein subunit beta isoform 1

      See identical proteins and their annotated locations for NP_001976.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the shorter isoform (1).
      Source sequence(s)
      BG281641, BG399783, X71129
      Consensus CDS
      CCDS12828.1
      UniProtKB/Swiss-Prot
      A8K766, B3KNY2, P38117, Q6IBH7, Q71RF6, Q9Y3S7
      Related
      ENSP00000311930.3, ENST00000309244.9
      Conserved Domains (1) summary
      cd01714
      Location:5210
      ETF_beta; 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 ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      51345155..51366388 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024451418.2XP_024307186.1  electron transfer flavoprotein subunit beta isoform X1

      Conserved Domains (1) summary
      cd01714
      Location:1173
      ETF_beta; 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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      54433439..54455031 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320189.1XP_054176164.1  electron transfer flavoprotein subunit beta isoform X1

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