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    ETFBKMT electron transfer flavoprotein subunit beta lysine methyltransferase [ Homo sapiens (human) ]

    Gene ID: 254013, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ETFBKMTprovided by HGNC
    Official Full Name
    electron transfer flavoprotein subunit beta lysine methyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:28739
    See related
    Ensembl:ENSG00000139160 MIM:615256; AllianceGenome:HGNC:28739
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    METTL20; C12orf72; ETFB-KMT
    Summary
    Enables heat shock protein binding activity and protein-lysine N-methyltransferase activity. Involved in negative regulation of fatty acid beta-oxidation using acyl-CoA dehydrogenase. Located in mitochondrial matrix. Part of protein-containing complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 1.8), testis (RPKM 1.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ETFBKMT in Genome Data Viewer
    Location:
    12p11.21
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (31647160..31673114)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (31523671..31549944)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (31800094..31826048)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene DENND5B antisense RNA 1 Neighboring gene ribosomal protein L31 pseudogene 50 Neighboring gene uncharacterized LOC124902913 Neighboring gene adenylate kinase 4 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4326 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6170 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:31811991-31812492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6172 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4328 Neighboring gene antagonist of mitotic exit network 1 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6173 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:31871502-31872009 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:31872010-31872516 Neighboring gene uncharacterized LOC105369722 Neighboring gene stathmin 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4329

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Role of METTL20 in regulating β-oxidation and heat production in mice under fasting or ketogenic conditions. Shimazu T, et al. Sci Rep, 2018 Jan 19. PMID 29352221, Free PMC Article
    2. Human METTL20 methylates lysine residues adjacent to the recognition loop of the electron transfer flavoprotein in mitochondria. Rhein VF, et al. J Biol Chem, 2014 Aug 29. PMID 25023281, Free PMC Article
    3. Human METTL20 is a mitochondrial lysine methyltransferase that targets the β subunit of electron transfer flavoprotein (ETFβ) and modulates its activity. Małecki J, et al. J Biol Chem, 2015 Jan 2. PMID 25416781, Free PMC Article
    4. Lysine methylation of VCP by a member of a novel human protein methyltransferase family. Kernstock S, et al. Nat Commun, 2012. PMID 22948820
    5. A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. Cloutier P, et al. PLoS Genet, 2013. PMID 23349634, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. These results further indicate that METTL20-mediated protein methylation is not essential in humans but more likely modulates energy production during fasting or under other metabolic conditions where beta-oxidation is up-regulated.
      Title: Role of METTL20 in regulating β-oxidation and heat production in mice under fasting or ketogenic conditions.
    2. Human METTL20 is a mitochondrial lysine methyltransferase that targets ETFbeta and modulates its activity.
      Title: Human METTL20 is a mitochondrial lysine methyltransferase that targets the β subunit of electron transfer flavoprotein (ETFβ) and modulates its activity.
    3. Tagged METTL20 expressed in HEK293T cells specifically associates with the ETF and promotes the trimethylation of ETFbeta lysine residues 199 and 202
      Title: Human METTL20 methylates lysine residues adjacent to the recognition loop of the electron transfer flavoprotein in mitochondria.
    4. The METTL20 protein is here suggested to be a protein methyltransferase, as it is shown to belong to a family of 10 human methyltransferases, some of which are shown to have lysine specific protein methyltransferase activity.
      Title: Lysine methylation of VCP by a member of a novel human protein methyltransferase family.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC50559

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables heat shock protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-lysine N-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein-lysine N-methyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein-lysine N-methyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of fatty acid beta-oxidation using acyl-CoA dehydrogenase IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of fatty acid beta-oxidation using acyl-CoA dehydrogenase IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    electron transfer flavoprotein beta subunit lysine methyltransferase
    Names
    ETFB lysine methyltransferase
    methyltransferase like 20
    methyltransferase-like protein 20
    protein N-lysine methyltransferase METTL20
    NP_001129335.1
    NP_001129336.1
    NP_776163.1
    XP_024304691.1
    XP_024304692.1
    XP_024304693.1
    XP_054227630.1
    XP_054227631.1
    XP_054227632.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001135863.2 → NP_001129335.1  electron transfer flavoprotein beta subunit lysine methyltransferase

      See identical proteins and their annotated locations for NP_001129335.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses a different segment for its 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AC023157, BC039107, BC039417, DA303137
      Consensus CDS
      CCDS8724.1
      UniProtKB/Swiss-Prot
      D3DUW3, Q8IXQ9
      Related
      ENSP00000350353.3, ENST00000357721.3
      Conserved Domains (1) summary
      COG3897
      Location:42 → 260
      Nnt1; Predicted nicotinamide N-methyase [General function prediction only]

    2. NM_001135864.2 → NP_001129336.1  electron transfer flavoprotein beta subunit lysine methyltransferase

      See identical proteins and their annotated locations for NP_001129336.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses a different segment for its 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AC023157, AK290248, BC039417
      Consensus CDS
      CCDS8724.1
      UniProtKB/Swiss-Prot
      D3DUW3, Q8IXQ9
      Related
      ENSP00000396123.2, ENST00000412352.6
      Conserved Domains (1) summary
      COG3897
      Location:42 → 260
      Nnt1; Predicted nicotinamide N-methyase [General function prediction only]

    3. NM_173802.4 → NP_776163.1  electron transfer flavoprotein beta subunit lysine methyltransferase

      See identical proteins and their annotated locations for NP_776163.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AC023157, BC039417, BC039535
      Consensus CDS
      CCDS8724.1
      UniProtKB/Swiss-Prot
      D3DUW3, Q8IXQ9
      Related
      ENSP00000379112.3, ENST00000395763.7
      Conserved Domains (1) summary
      COG3897
      Location:42 → 260
      Nnt1; Predicted nicotinamide N-methyase [General function prediction only]

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      31647160..31673114
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024448925.2 → XP_024304693.1  electron transfer flavoprotein beta subunit lysine methyltransferase isoform X1

      UniProtKB/Swiss-Prot
      D3DUW3, Q8IXQ9
      Related
      ENSP00000441421.1, ENST00000538463.5
      Conserved Domains (1) summary
      COG3897
      Location:42 → 260
      Nnt1; Predicted nicotinamide N-methyase [General function prediction only]

    2. XM_024448924.2 → XP_024304692.1  electron transfer flavoprotein beta subunit lysine methyltransferase isoform X1

      UniProtKB/Swiss-Prot
      D3DUW3, Q8IXQ9
      Conserved Domains (1) summary
      COG3897
      Location:42 → 260
      Nnt1; Predicted nicotinamide N-methyase [General function prediction only]

    3. XM_024448923.2 → XP_024304691.1  electron transfer flavoprotein beta subunit lysine methyltransferase isoform X1

      UniProtKB/Swiss-Prot
      D3DUW3, Q8IXQ9
      Conserved Domains (1) summary
      COG3897
      Location:42 → 260
      Nnt1; Predicted nicotinamide N-methyase [General function prediction only]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      31523671..31549944
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371657.1 → XP_054227632.1  electron transfer flavoprotein beta subunit lysine methyltransferase isoform X1

      UniProtKB/Swiss-Prot
      D3DUW3, Q8IXQ9

    2. XM_054371656.1 → XP_054227631.1  electron transfer flavoprotein beta subunit lysine methyltransferase isoform X1

      UniProtKB/Swiss-Prot
      D3DUW3, Q8IXQ9

    3. XM_054371655.1 → XP_054227630.1  electron transfer flavoprotein beta subunit lysine methyltransferase isoform X1

      UniProtKB/Swiss-Prot
      D3DUW3, Q8IXQ9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IXQ9.1 GenPept UniProtKB/Swiss-Prot:Q8IXQ9

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