U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 254013, updated on 11-Apr-2024

Summary

Go to the top of the page Help
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 electron transfer activity; negative regulation of fatty acid beta-oxidation using acyl-CoA dehydrogenase; and peptidyl-lysine trimethylation. Located in mitochondrial matrix. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in kidney (RPKM 1.8), testis (RPKM 1.6) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
12p11.21
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (31647160..31673114)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (31523671..31549944)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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 (16) 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

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in peptidyl-lysine trimethylation IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

Go to the top of the page Help
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)

Go to the top of the page Help

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.

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_2023_10

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

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous