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Aliases for EEF1AKMT3 Gene

Aliases for EEF1AKMT3 Gene

  • EEF1A Lysine Methyltransferase 3 2 3 3 5
  • Hepatocellular Carcinoma-Associated Antigen 557a 3 4
  • Family With Sequence Similarity 119, Member B 2 3
  • Protein-Lysine Methyltransferase METTL21B 3 4
  • Methyltransferase-Like Protein 21B 3 4
  • Methyltransferase Like 21B 2 3
  • METTL21B 3 4
  • FAM119B 3 4
  • Hepatocellularcarcinoma-Associated Antigen HCA557a 3
  • EC 2.1.1.- 4
  • HCA557A 4

External Ids for EEF1AKMT3 Gene

Previous HGNC Symbols for EEF1AKMT3 Gene

  • FAM119B
  • METTL21B

Summaries for EEF1AKMT3 Gene

GeneCards Summary for EEF1AKMT3 Gene

EEF1AKMT3 (EEF1A Lysine Methyltransferase 3) is a Protein Coding gene. Diseases associated with EEF1AKMT3 include Combined Oxidative Phosphorylation Deficiency 3. An important paralog of this gene is METTL21A.

UniProtKB/Swiss-Prot for EEF1AKMT3 Gene

  • Protein-lysine methyltransferase that selectively methylates EEF1A1 and EEF1A2 at Lys-165 in an aminoacyl-tRNA and GTP-dependent manner. EEF1A1 methylation by EEF1AKMT3 is dynamic as well as inducible by stress conditions, such as ER-stress, and plays a regulatory role on mRNA translation.

Additional gene information for EEF1AKMT3 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EEF1AKMT3 Gene

Genomics for EEF1AKMT3 Gene

GeneHancer (GH) Regulatory Elements for EEF1AKMT3 Gene

Promoters and enhancers for EEF1AKMT3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J057770 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 700 +0.6 636 3 HDGF CLOCK MLX ARNT ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 TSFM EEF1AKMT3 METTL1 ENSG00000257921 MBD6 CTDSP2 NEMP1 CDK4
GH12J057780 Promoter/Enhancer 0.8 EPDnew ENCODE 699.8 +9.6 9627 1.4 GTF2E2 TSFM EEF1AKMT3 ENSG00000257921
GH12J057109 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 128.5 -660.2 -660238 3.8 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF416 ZNF143 ZNF548 MCM3 STAT6 NEMP1 EEF1AKMT3 ENSG00000257740 BAZ2A PAN2 SMARCC2 CDK4 ANKRD52 DTX3
GH12J057830 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 35.4 +68.0 67988 17 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF143 ZNF263 SP3 CTDSP2 EEF1AKMT3 TSFM ATP23 NEMP1 NAB2 MBD6 METTL1 TSPAN31 CDK4
GH12J057750 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 40.4 -17.6 -17634 6.4 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 ZNF548 CDK4 MARCH9 NEMP1 TSFM CTDSP2 EEF1AKMT3 MBD6 ENSG00000224713 RPL13AP23 LINC02403
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EEF1AKMT3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for EEF1AKMT3 Gene

Genomic Locations for EEF1AKMT3 Gene
chr12:57,771,492-57,782,541
(GRCh38/hg38)
Size:
11,050 bases
Orientation:
Plus strand
chr12:58,165,275-58,176,324
(GRCh37/hg19)

Genomic View for EEF1AKMT3 Gene

Genes around EEF1AKMT3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EEF1AKMT3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EEF1AKMT3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EEF1AKMT3 Gene

Proteins for EEF1AKMT3 Gene

  • Protein details for EEF1AKMT3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96AZ1-EFMT3_HUMAN
    Recommended name:
    EEF1A lysine methyltransferase 3
    Protein Accession:
    Q96AZ1
    Secondary Accessions:
    • Q9H749
    • Q9Y3W2

    Protein attributes for EEF1AKMT3 Gene

    Size:
    226 amino acids
    Molecular mass:
    24911 Da
    Quaternary structure:
    • Interacts with members of the heat shock protein 70 and 90 families and of the TCP-1 chaperonin family, as well as with HSPD1, STIP1 and tubulin; at least some of these proteins may be methylation substrates.

    Three dimensional structures from OCA and Proteopedia for EEF1AKMT3 Gene

    Alternative splice isoforms for EEF1AKMT3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EEF1AKMT3 Gene

Post-translational modifications for EEF1AKMT3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EEF1AKMT3 Gene

No data available for DME Specific Peptides for EEF1AKMT3 Gene

Domains & Families for EEF1AKMT3 Gene

Gene Families for EEF1AKMT3 Gene

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

Protein Domains for EEF1AKMT3 Gene

Suggested Antigen Peptide Sequences for EEF1AKMT3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96AZ1

UniProtKB/Swiss-Prot:

EFMT3_HUMAN :
  • Belongs to the methyltransferase superfamily. METTL21 family.
Family:
  • Belongs to the methyltransferase superfamily. METTL21 family.
genes like me logo Genes that share domains with EEF1AKMT3: view

Function for EEF1AKMT3 Gene

Molecular function for EEF1AKMT3 Gene

UniProtKB/Swiss-Prot Function:
Protein-lysine methyltransferase that selectively methylates EEF1A1 and EEF1A2 at Lys-165 in an aminoacyl-tRNA and GTP-dependent manner. EEF1A1 methylation by EEF1AKMT3 is dynamic as well as inducible by stress conditions, such as ER-stress, and plays a regulatory role on mRNA translation.

Enzyme Numbers (IUBMB) for EEF1AKMT3 Gene

Phenotypes From GWAS Catalog for EEF1AKMT3 Gene

Gene Ontology (GO) - Molecular Function for EEF1AKMT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23349634
GO:0008168 methyltransferase activity IDA,IEA 28108655
GO:0016279 protein-lysine N-methyltransferase activity IDA 28108655
GO:0016740 transferase activity IEA --
GO:0031072 heat shock protein binding IPI 23349634
genes like me logo Genes that share ontologies with EEF1AKMT3: view
genes like me logo Genes that share phenotypes with EEF1AKMT3: view

Animal Model Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for EEF1AKMT3 Gene

Localization for EEF1AKMT3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EEF1AKMT3 Gene

Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

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 EEF1AKMT3 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EEF1AKMT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA --
GO:0005737 cytoplasm IEA,IDA 23349634
GO:0005813 centrosome IDA 28108655
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with EEF1AKMT3: view

Pathways & Interactions for EEF1AKMT3 Gene

SuperPathways for EEF1AKMT3 Gene

No Data Available

Interacting Proteins for EEF1AKMT3 Gene

Gene Ontology (GO) - Biological Process for EEF1AKMT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0018022 peptidyl-lysine methylation IDA 28108655
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with EEF1AKMT3: view

No data available for Pathways by source and SIGNOR curated interactions for EEF1AKMT3 Gene

Drugs & Compounds for EEF1AKMT3 Gene

No Compound Related Data Available

Transcripts for EEF1AKMT3 Gene

mRNA/cDNA for EEF1AKMT3 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for EEF1AKMT3 Gene

No ASD Table

Relevant External Links for EEF1AKMT3 Gene

GeneLoc Exon Structure for
EEF1AKMT3
ECgene alternative splicing isoforms for
EEF1AKMT3

Expression for EEF1AKMT3 Gene

NURSA nuclear receptor signaling pathways regulating expression of EEF1AKMT3 Gene:

EEF1AKMT3

Evidence on tissue expression from TISSUES for EEF1AKMT3 Gene

  • Intestine(4.2)
  • Lung(4.2)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 EEF1AKMT3 Gene

Orthologs for EEF1AKMT3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for EEF1AKMT3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia METTL21B 34 33
  • 99.41 (n)
OneToOne
dog
(Canis familiaris)
Mammalia METTL21B 34 33
  • 93 (n)
OneToOne
cow
(Bos Taurus)
Mammalia METTL21B 34 33
  • 92.04 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC679247 33
  • 86.64 (n)
mouse
(Mus musculus)
Mammalia LOC100504608 33
  • 86.28 (n)
Mettl21b 34
  • 83 (a)
OneToOne
Eef1akmt3 16
oppossum
(Monodelphis domestica)
Mammalia METTL21B 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia METTL21B 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 30 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia METTL21B 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mettl21b 33
  • 61.62 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:92518 34
  • 34 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C42C1.13 34
  • 32 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 28 (a)
OneToMany
EFM2 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 32 (a)
OneToMany
Species where no ortholog for EEF1AKMT3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 EEF1AKMT3 Gene

ENSEMBL:
Gene Tree for EEF1AKMT3 (if available)
TreeFam:
Gene Tree for EEF1AKMT3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EEF1AKMT3: view image

Paralogs for EEF1AKMT3 Gene

Paralogs for EEF1AKMT3 Gene

genes like me logo Genes that share paralogs with EEF1AKMT3: view

Variants for EEF1AKMT3 Gene

Sequence variations from dbSNP and Humsavar for EEF1AKMT3 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs10747783 benign, Combined oxidative phosphorylation deficiency 57,782,831(+) T/C downstream_transcript_variant
rs587777689 pathogenic, Combined oxidative phosphorylation deficiency 3 57,782,862(+) A/G downstream_transcript_variant
rs869025542 uncertain-significance, Skeletal myopathy 57,782,803(+) T/G downstream_transcript_variant
rs983238298 likely-benign, not specified 57,782,794(+) C/A/G downstream_transcript_variant
rs138461986 benign, not specified 57,782,825(+) C/T downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for EEF1AKMT3 Gene

Variant ID Type Subtype PubMed ID
nsv470296 CNV loss 18288195
nsv470297 CNV gain 18288195
nsv510601 CNV deletion 20534489
nsv559046 CNV gain 21841781

Variation tolerance for EEF1AKMT3 Gene

Residual Variation Intolerance Score: 49.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.29; 25.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EEF1AKMT3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EEF1AKMT3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EEF1AKMT3 Gene

Disorders for EEF1AKMT3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EEF1AKMT3 Gene - From: GeneCards

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 3
  • coxpd3
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for EEF1AKMT3

genes like me logo Genes that share disorders with EEF1AKMT3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EEF1AKMT3 Gene

Publications for EEF1AKMT3 Gene

  1. The novel lysine specific methyltransferase METTL21B affects mRNA translation through inducible and dynamic methylation of Lys-165 in human eukaryotic elongation factor 1 alpha (eEF1A). (PMID: 28108655) Malecki J … Falnes PØ (Nucleic acids research 2017) 2 3 4 58
  2. 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 58
  3. Lysine methylation of VCP by a member of a novel human protein methyltransferase family. (PMID: 22948820) Kernstock S … Falnes PØ (Nature communications 2012) 3 58
  4. The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis. (PMID: 20190274) Gandhi KS … ANZgene Multiple Sclerosis Genetics Consortium (Human molecular genetics 2010) 3 58
  5. Ubiquitin-mediated proteolysis of HuR by heat shock. (PMID: 19322201) Abdelmohsen K … Gorospe M (The EMBO journal 2009) 3 58

Products for EEF1AKMT3 Gene

Sources for EEF1AKMT3 Gene

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