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

Gene ID: 254013, updated on 9-Dec-2024

Summary

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
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Genomic context

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

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
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

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_001135863.2NP_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:42260
    Nnt1; Predicted nicotinamide N-methyase [General function prediction only]
  2. NM_001135864.2NP_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:42260
    Nnt1; Predicted nicotinamide N-methyase [General function prediction only]
  3. NM_173802.4NP_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:42260
    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_024448925.2XP_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:42260
    Nnt1; Predicted nicotinamide N-methyase [General function prediction only]
  2. XM_024448924.2XP_024304692.1  electron transfer flavoprotein beta subunit lysine methyltransferase isoform X1

    UniProtKB/Swiss-Prot
    D3DUW3, Q8IXQ9
    Conserved Domains (1) summary
    COG3897
    Location:42260
    Nnt1; Predicted nicotinamide N-methyase [General function prediction only]
  3. XM_024448923.2XP_024304691.1  electron transfer flavoprotein beta subunit lysine methyltransferase isoform X1

    UniProtKB/Swiss-Prot
    D3DUW3, Q8IXQ9
    Conserved Domains (1) summary
    COG3897
    Location:42260
    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_054371657.1XP_054227632.1  electron transfer flavoprotein beta subunit lysine methyltransferase isoform X1

    UniProtKB/Swiss-Prot
    D3DUW3, Q8IXQ9
  2. XM_054371656.1XP_054227631.1  electron transfer flavoprotein beta subunit lysine methyltransferase isoform X1

    UniProtKB/Swiss-Prot
    D3DUW3, Q8IXQ9
  3. XM_054371655.1XP_054227630.1  electron transfer flavoprotein beta subunit lysine methyltransferase isoform X1

    UniProtKB/Swiss-Prot
    D3DUW3, Q8IXQ9