Aliases for ETFBKMT Gene

Aliases for ETFBKMT Gene

  • Electron Transfer Flavoprotein Subunit Beta Lysine Methyltransferase 2 3 5
  • Electron Transfer Flavoprotein Beta Subunit Lysine Methyltransferase 3 4
  • Protein N-Lysine Methyltransferase METTL20 3 4
  • ETFB Lysine Methyltransferase 3 4
  • Methyltransferase Like 20 2 3
  • C12orf72 3 4
  • ETFB-KMT 3 4
  • METTL20 3 4
  • Chromosome 12 Open Reading Frame 72 2
  • Methyltransferase-Like Protein 20 3
  • DKFZp451L235 2
  • EC 2.1.1.- 4
  • MGC50559 2
  • ETFBKMT 5

External Ids for ETFBKMT Gene

Previous HGNC Symbols for ETFBKMT Gene

  • C12orf72
  • METTL20

Summaries for ETFBKMT Gene

GeneCards Summary for ETFBKMT Gene

ETFBKMT (Electron Transfer Flavoprotein Subunit Beta Lysine Methyltransferase) is a Protein Coding gene. Among its related pathways are Protein methylation and Metabolism of proteins. An important paralog of this gene is HEMK1.

UniProtKB/Swiss-Prot Summary for ETFBKMT Gene

  • Protein-lysine methyltransferase that selectively trimethylates the flavoprotein ETFB in mitochondria (PubMed:25023281, PubMed:25416781). Thereby, may negatively regulate the function of ETFB in electron transfer from Acyl-CoA dehydrogenases to the main respiratory chain (PubMed:25416781).

Additional gene information for ETFBKMT Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ETFBKMT Gene

Genomics for ETFBKMT Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ETFBKMT Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ETFBKMT on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ETFBKMT

Genomic Locations for ETFBKMT Gene

Genomic Locations for ETFBKMT Gene
chr12:31,647,160-31,673,114
(GRCh38/hg38)
Size:
25,955 bases
Orientation:
Plus strand
chr12:31,800,094-31,826,048
(GRCh37/hg19)
Size:
25,955 bases
Orientation:
Plus strand

Genomic View for ETFBKMT Gene

Genes around ETFBKMT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ETFBKMT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ETFBKMT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ETFBKMT Gene

Proteins for ETFBKMT Gene

  • Protein details for ETFBKMT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IXQ9-ETKMT_HUMAN
    Recommended name:
    Electron transfer flavoprotein beta subunit lysine methyltransferase
    Protein Accession:
    Q8IXQ9
    Secondary Accessions:
    • D3DUW3

    Protein attributes for ETFBKMT Gene

    Size:
    262 amino acids
    Molecular mass:
    29461 Da
    Quaternary structure:
    • Interacts with HSPD1; this protein may possibly be a methylation substrate.

neXtProt entry for ETFBKMT Gene

Post-translational modifications for ETFBKMT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ETFBKMT Gene

Domains & Families for ETFBKMT Gene

Gene Families for ETFBKMT Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ETFBKMT Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ETFBKMT Gene

GenScript: Design optimal peptide antigens:
  • Methyltransferase-like protein 20 (MET20_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IXQ9

UniProtKB/Swiss-Prot:

ETKMT_HUMAN :
  • Belongs to the methyltransferase superfamily. ETFBKMT family.
Family:
  • Belongs to the methyltransferase superfamily. ETFBKMT family.
genes like me logo Genes that share domains with ETFBKMT: view

Function for ETFBKMT Gene

Molecular function for ETFBKMT Gene

UniProtKB/Swiss-Prot Function:
Protein-lysine methyltransferase that selectively trimethylates the flavoprotein ETFB in mitochondria (PubMed:25023281, PubMed:25416781). Thereby, may negatively regulate the function of ETFB in electron transfer from Acyl-CoA dehydrogenases to the main respiratory chain (PubMed:25416781).

Enzyme Numbers (IUBMB) for ETFBKMT Gene

Phenotypes From GWAS Catalog for ETFBKMT Gene

Gene Ontology (GO) - Molecular Function for ETFBKMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008168 methyltransferase activity IEA --
GO:0016279 protein-lysine N-methyltransferase activity IEA,TAS --
GO:0016740 transferase activity IEA --
GO:0031072 heat shock protein binding IPI 23349634
genes like me logo Genes that share ontologies with ETFBKMT: view

Phenotypes for ETFBKMT Gene

genes like me logo Genes that share phenotypes with ETFBKMT: view

Animal Models for ETFBKMT Gene

MGI Knock Outs for ETFBKMT:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ETFBKMT

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ETFBKMT Gene

Localization for ETFBKMT Gene

Subcellular locations from UniProtKB/Swiss-Prot for ETFBKMT Gene

Cytoplasm. Mitochondrion matrix. Note=Concentrated in cytoplasmic granular foci. {ECO:0000269 PubMed:23349634}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ETFBKMT gene
Compartment Confidence
mitochondrion 5
peroxisome 1
nucleus 1
cytosol 1
plasma membrane 0
extracellular 0
lysosome 0

Gene Ontology (GO) - Cellular Components for ETFBKMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 23349634
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0032991 protein-containing complex IDA 23349634
genes like me logo Genes that share ontologies with ETFBKMT: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ETFBKMT Gene

Pathways & Interactions for ETFBKMT Gene

PathCards logo

SuperPathways for ETFBKMT Gene

genes like me logo Genes that share pathways with ETFBKMT: view

Pathways by source for ETFBKMT Gene

Gene Ontology (GO) - Biological Process for ETFBKMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006479 protein methylation TAS --
GO:0018022 peptidyl-lysine methylation IMP 25416781
GO:0018023 peptidyl-lysine trimethylation IEA,IMP 25023281
GO:0032259 methylation IEA --
GO:1904733 negative regulation of electron transfer activity IMP 25416781
genes like me logo Genes that share ontologies with ETFBKMT: view

No data available for SIGNOR curated interactions for ETFBKMT Gene

Drugs & Compounds for ETFBKMT Gene

No Compound Related Data Available

Transcripts for ETFBKMT Gene

mRNA/cDNA for ETFBKMT Gene

3 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ETFBKMT

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ETFBKMT Gene

No ASD Table

Relevant External Links for ETFBKMT Gene

GeneLoc Exon Structure for
ETFBKMT

Expression for ETFBKMT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ETFBKMT

Evidence on tissue expression from TISSUES for ETFBKMT Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with ETFBKMT: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ETFBKMT Gene

Orthologs for ETFBKMT Gene

This gene was present in the common ancestor of animals.

Orthologs for ETFBKMT Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia METTL20 30 31
  • 99.62 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia METTL20 30 31
  • 89.31 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia METTL20 30 31
  • 88.93 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mettl20 30
  • 84.18 (n)
Mouse
(Mus musculus)
Mammalia Mettl20 30 31
  • 82.22 (n)
OneToOne
Etfbkmt 17
Oppossum
(Monodelphis domestica)
Mammalia METTL20 31
  • 65 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia METTL20 31
  • 56 (a)
OneToOne
Chicken
(Gallus gallus)
Aves METTL20 30 31
  • 72.37 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia METTL20 31
  • 55 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100486545 30
  • 61.68 (n)
Zebrafish
(Danio rerio)
Actinopterygii mettl20 30 31
  • 61.27 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4768 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007652 30
  • 48.67 (n)
Worm
(Caenorhabditis elegans)
Secernentea C37A2.6 30 31
  • 52.07 (n)
OneToOne
Species where no ortholog for ETFBKMT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ETFBKMT Gene

ENSEMBL:
Gene Tree for ETFBKMT (if available)
TreeFam:
Gene Tree for ETFBKMT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ETFBKMT: view image

Paralogs for ETFBKMT Gene

Paralogs for ETFBKMT Gene

genes like me logo Genes that share paralogs with ETFBKMT: view

Variants for ETFBKMT Gene

Additional dbSNP identifiers (rs#s) for ETFBKMT Gene

Structural Variations from Database of Genomic Variants (DGV) for ETFBKMT Gene

Variant ID Type Subtype PubMed ID
esv1351884 CNV insertion 17803354
esv2495218 CNV insertion 19546169
esv2760267 CNV gain+loss 21179565
esv3581338 CNV gain 25503493
esv3629050 CNV gain 21293372
esv3629051 CNV loss 21293372
nsv522379 CNV loss 19592680
nsv662 CNV insertion 18451855
nsv832365 CNV loss 17160897

Variation tolerance for ETFBKMT Gene

Residual Variation Intolerance Score: 87.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.42; 54.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ETFBKMT Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ETFBKMT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ETFBKMT Gene

Disorders for ETFBKMT Gene

No disorders were found for ETFBKMT Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ETFBKMT Gene

Publications for ETFBKMT Gene

  1. Human METTL20 is a mitochondrial lysine methyltransferase that targets the β subunit of electron transfer flavoprotein (ETFβ) and modulates its activity. (PMID: 25416781) Małecki J … Falnes PØ (The Journal of biological chemistry 2015) 2 3 4
  2. Human METTL20 methylates lysine residues adjacent to the recognition loop of the electron transfer flavoprotein in mitochondria. (PMID: 25023281) Rhein VF … Walker JE (The Journal of biological chemistry 2014) 2 3 4
  3. A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. (PMID: 23349634) Cloutier P … Coulombe B (PLoS genetics 2013) 3 4
  4. Lysine methylation of VCP by a member of a novel human protein methyltransferase family. (PMID: 22948820) Kernstock S … Falnes PØ (Nature communications 2012) 3 4
  5. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. (PMID: 29987050) Xiao T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2018) 3

Products for ETFBKMT Gene

Sources for ETFBKMT Gene