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Aliases for ETFBKMT Gene

Aliases for ETFBKMT Gene

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

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 Beta Subunit Lysine Methyltransferase) is a Protein Coding gene.

UniProtKB/Swiss-Prot 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).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ETFBKMT Gene

Genomics for ETFBKMT Gene

Genomic Location for ETFBKMT Gene

Chromosome:
12
Start:
31,647,160 bp from pter
End:
31,673,114 bp from pter
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

No data available for Regulatory Elements 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

Proteomics data for ETFBKMT Gene at MOPED

Post-translational modifications for ETFBKMT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ETFBKMT Gene

No data available for DME Specific Peptides for ETFBKMT Gene

Domains & Families for ETFBKMT Gene

Gene Families for ETFBKMT Gene

Protein Domains for ETFBKMT Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ETFBKMT Gene

GenScript: Design optimal peptide antigens:

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 for ETFBKMT Gene

MGI mutant phenotypes for ETFBKMT:
inferred from 1 alleles
GenomeRNAi human phenotypes for ETFBKMT:
genes like me logo Genes that share phenotypes with ETFBKMT: view

Animal Models for ETFBKMT Gene

MGI Knock Outs for ETFBKMT:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , 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}.

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for ETFBKMT Gene

Pathways & Interactions for ETFBKMT Gene

SuperPathways for ETFBKMT Gene

No Data Available

Interacting Proteins for ETFBKMT Gene

Gene Ontology (GO) - Biological Process for ETFBKMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0018022 peptidyl-lysine methylation IMP 25416781
GO:1904733 negative regulation of electron carrier activity IMP 25416781
genes like me logo Genes that share ontologies with ETFBKMT: view

No data available for Pathways by source and SIGNOR curated interactions for ETFBKMT Gene

Drugs & Compounds for ETFBKMT Gene

No Compound Related Data Available

Transcripts for ETFBKMT Gene

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

No ASD Table

Relevant External Links for ETFBKMT Gene

GeneLoc Exon Structure for
ETFBKMT
ECgene alternative splicing isoforms for
ETFBKMT

Expression for ETFBKMT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

genes like me logo Genes that share expression patterns with ETFBKMT: view

In Situ Assay Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia METTL20 35
  • 89.31 (n)
  • 83.59 (a)
METTL20 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia METTL20 35
  • 88.93 (n)
  • 86.64 (a)
METTL20 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mettl20 35
  • 82.22 (n)
  • 78.82 (a)
Mettl20 16
Mettl20 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia METTL20 35
  • 99.62 (n)
  • 99.24 (a)
METTL20 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mettl20 35
  • 84.18 (n)
  • 80.78 (a)
oppossum
(Monodelphis domestica)
Mammalia METTL20 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia METTL20 36
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves METTL20 35
  • 72.37 (n)
  • 73.68 (a)
METTL20 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia METTL20 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486545 35
  • 61.68 (n)
  • 61.21 (a)
zebrafish
(Danio rerio)
Actinopterygii mettl20 35
  • 61.27 (n)
  • 59.72 (a)
mettl20 36
  • 53 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4768 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007652 35
  • 48.67 (n)
  • 39.91 (a)
worm
(Caenorhabditis elegans)
Secernentea C37A2.6 35
  • 52.07 (n)
  • 44.28 (a)
C37A2.6 36
  • 36 (a)
OneToOne
Species with no ortholog for ETFBKMT:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for ETFBKMT Gene

No data available for Paralogs for ETFBKMT Gene

Variants for ETFBKMT Gene

Sequence variations from dbSNP and Humsavar for ETFBKMT Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs900609 -- 31,663,833(-) AAGTG(C/T)GGTTT intron-variant
rs900610 -- 31,663,689(-) CTGAT(C/T)CGTTG intron-variant
rs719692 -- 31,662,161(+) AGTTG(A/C/T)GGCTT reference, missense
rs2170768 -- 31,668,327(-) TCCTC(A/G)ACTAC utr-variant-3-prime
rs2222330 -- 31,648,851(-) gggcg(C/T)ggtgg intron-variant

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)

Relevant External Links for ETFBKMT Gene

HapMap Linkage Disequilibrium report
ETFBKMT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ETFBKMT Gene

Disorders for ETFBKMT Gene

Relevant External Links for ETFBKMT

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ETFBKMT

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 I^ subunit of electron transfer flavoprotein (ETFI^) and modulates its activity. (PMID: 25416781) MaA8ecki J. … Falnes P.A.9. (J. Biol. Chem. 2015) 2 3 4 67
  2. Human METTL20 methylates lysine residues adjacent to the recognition loop of the electron transfer flavoprotein in mitochondria. (PMID: 25023281) Rhein V.F. … Walker J.E. (J. Biol. Chem. 2014) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. 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 Genet. 2013) 3
  5. Lysine methylation of VCP by a member of a novel human protein methyltransferase family. (PMID: 22948820) Kernstock S. … Falnes P.O. (Nat. Commun. 2012) 3

Products for ETFBKMT Gene

Sources for ETFBKMT Gene

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