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Aliases for EEF1AKMT1 Gene

Aliases for EEF1AKMT1 Gene

  • EEF1A Lysine Methyltransferase 1 2 3 5
  • Eukaryotic Translation Elongation Factor 1 Alpha Lysine Methyltransferase 1 2 3
  • N-6 Adenine-Specific DNA Methyltransferase 2 (Putative) 2 3
  • N(6)-Adenine-Specific DNA Methyltransferase 2 3 4
  • Protein-Lysine N-Methyltransferase N6AMT2 3 4
  • N6AMT2 3 4
  • EC 2.1.1.- 4
  • EC 2.1.1 58
  • ESP13 3

External Ids for EEF1AKMT1 Gene

Previous HGNC Symbols for EEF1AKMT1 Gene

  • N6AMT2

Summaries for EEF1AKMT1 Gene

GeneCards Summary for EEF1AKMT1 Gene

EEF1AKMT1 (EEF1A Lysine Methyltransferase 1) is a Protein Coding gene. Among its related pathways are Protein methylation and Metabolism of proteins.

UniProtKB/Swiss-Prot for EEF1AKMT1 Gene

  • Protein-lysine methyltransferase that selectively catalyzes the trimethylation of EEF1A at Lys-79.

Additional gene information for EEF1AKMT1 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 EEF1AKMT1 Gene

Genomics for EEF1AKMT1 Gene

Regulatory Elements for EEF1AKMT1 Gene

Enhancers for EEF1AKMT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13H020812 1.4 Ensembl ENCODE dbSUPER 18.4 -40.5 -40506 2 ZSCAN4 INSM2 KLF17 FEZF1 ZNF2 ZNF366 FOS RCOR1 ZNF391 ZNF362 EEF1AKMT1 IFT88 GC13P020892
GH13H020822 0.9 FANTOM5 ENCODE 18.5 -50.7 -50681 3 JUND POLR2A HLF MAFK EEF1AKMT1 CRYL1 SLC35E1P1 IFT88 IL17D GC13P020892
GH13H020552 1.4 FANTOM5 ENCODE dbSUPER 10.1 +220.1 220131 2 ELF3 SOX13 SAP130 MLX ARID4B MAX ZNF644 KMT2B RAD21 RARA IFT88 CRYL1 SLC35E1P1 EEF1AKMT1 IL17D
GH13H020797 0.8 ENCODE dbSUPER 16.9 -24.0 -23975 1 PKNOX1 ZNF692 ATF2 SPI1 EEF1AKMT1 CRYL1 XPO4 GC13P020892
GH13H020828 1.2 Ensembl ENCODE dbSUPER 11.1 -54.7 -54743 0 SMARCA5 CTCF ZNF654 IRF2 ZNF10 TRIM22 REST RAD21 ZNF121 SMC3 EEF1AKMT1 CRYL1 GC13P020892
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EEF1AKMT1 on UCSC Golden Path with GeneCards custom track

Promoters for EEF1AKMT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000059703 258 1401 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 GLI4 ZNF2 YY1 ELK1

Genomic Location for EEF1AKMT1 Gene

Chromosome:
13
Start:
20,728,731 bp from pter
End:
20,773,958 bp from pter
Size:
45,228 bases
Orientation:
Minus strand

Genomic View for EEF1AKMT1 Gene

Genes around EEF1AKMT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EEF1AKMT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EEF1AKMT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EEF1AKMT1 Gene

Proteins for EEF1AKMT1 Gene

  • Protein details for EEF1AKMT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WVE0-EFMT1_HUMAN
    Recommended name:
    EEF1A lysine methyltransferase 1
    Protein Accession:
    Q8WVE0
    Secondary Accessions:
    • B5G4V1

    Protein attributes for EEF1AKMT1 Gene

    Size:
    214 amino acids
    Molecular mass:
    24506 Da
    Quaternary structure:
    No Data Available

neXtProt entry for EEF1AKMT1 Gene

Selected DME Specific Peptides for EEF1AKMT1 Gene

Q8WVE0:
  • SAPSVYQKL
  • LLCTGAIME

Post-translational modifications for EEF1AKMT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EEF1AKMT1 Gene

Domains & Families for EEF1AKMT1 Gene

Gene Families for EEF1AKMT1 Gene

Protein Domains for EEF1AKMT1 Gene

Suggested Antigen Peptide Sequences for EEF1AKMT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WVE0

UniProtKB/Swiss-Prot:

EFMT1_HUMAN :
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. EFM5 family.
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. EFM5 family.
genes like me logo Genes that share domains with EEF1AKMT1: view

Function for EEF1AKMT1 Gene

Molecular function for EEF1AKMT1 Gene

UniProtKB/Swiss-Prot Function:
Protein-lysine methyltransferase that selectively catalyzes the trimethylation of EEF1A at Lys-79.

Enzyme Numbers (IUBMB) for EEF1AKMT1 Gene

Phenotypes From GWAS Catalog for EEF1AKMT1 Gene

Gene Ontology (GO) - Molecular Function for EEF1AKMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0008168 methyltransferase activity IDA 26545399
GO:0016279 protein-lysine N-methyltransferase activity TAS --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with EEF1AKMT1: view
genes like me logo Genes that share phenotypes with EEF1AKMT1: view

Animal Models for EEF1AKMT1 Gene

MGI Knock Outs for EEF1AKMT1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for EEF1AKMT1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for EEF1AKMT1 Gene

Localization for EEF1AKMT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EEF1AKMT1 Gene

Cytoplasm.

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 EEF1AKMT1 gene
Compartment Confidence
extracellular 5
cytosol 5
plasma membrane 2
cytoskeleton 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EEF1AKMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with EEF1AKMT1: view

Pathways & Interactions for EEF1AKMT1 Gene

genes like me logo Genes that share pathways with EEF1AKMT1: view

Pathways by source for EEF1AKMT1 Gene

Interacting Proteins for EEF1AKMT1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000372202%0d%0a9606.ENSP00000332643%0d%0a
Selected Interacting proteins: Q8WVE0-EFMT1_HUMAN ENSP00000372202 for EEF1AKMT1 Gene via IID STRING

Gene Ontology (GO) - Biological Process for EEF1AKMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006479 protein methylation TAS --
GO:0018022 peptidyl-lysine methylation IDA 26545399
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with EEF1AKMT1: view

No data available for SIGNOR curated interactions for EEF1AKMT1 Gene

Drugs & Compounds for EEF1AKMT1 Gene

No Compound Related Data Available

Transcripts for EEF1AKMT1 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for EEF1AKMT1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for EEF1AKMT1 Gene

No ASD Table

Relevant External Links for EEF1AKMT1 Gene

GeneLoc Exon Structure for
EEF1AKMT1
ECgene alternative splicing isoforms for
EEF1AKMT1

Expression for EEF1AKMT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of EEF1AKMT1 Gene:

EEF1AKMT1

Evidence on tissue expression from TISSUES for EEF1AKMT1 Gene

  • Nervous system(4.3)
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 EEF1AKMT1 Gene

Orthologs for EEF1AKMT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EEF1AKMT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia N6AMT2 33 34
  • 99.38 (n)
dog
(Canis familiaris)
Mammalia N6AMT2 34 33
  • 86.41 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia N6amt2 33
  • 80.97 (n)
mouse
(Mus musculus)
Mammalia N6amt2 33 34
  • 80.82 (n)
Eef1akmt1 16
cow
(Bos Taurus)
Mammalia N6AMT2 34 33
  • 76.48 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia N6AMT2 34
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia N6AMT2 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves N6AMT2 34 33
  • 74 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia N6AMT2 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia n6amt2 33
  • 69.35 (n)
Str.20519 33
zebrafish
(Danio rerio)
Actinopterygii n6amt2 34 33
  • 66.46 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5203 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010213 33
  • 52.24 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9154 33 34
  • 51.99 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_M142.8 33
  • 54.58 (n)
M142.8 34
  • 44 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YGR001C 33
  • 51.89 (n)
-- 34
  • 36 (a)
OneToOne
EFM5 36
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL001W 33
  • 51.56 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A08712g 33
  • 50.32 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G58470 33
  • 53.11 (n)
rice
(Oryza sativa)
Liliopsida Os03g0749900 33
  • 48.09 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02372 33
  • 50.25 (n)
Species where no ortholog for EEF1AKMT1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EEF1AKMT1 Gene

ENSEMBL:
Gene Tree for EEF1AKMT1 (if available)
TreeFam:
Gene Tree for EEF1AKMT1 (if available)

Paralogs for EEF1AKMT1 Gene

No data available for Paralogs for EEF1AKMT1 Gene

Variants for EEF1AKMT1 Gene

Sequence variations from dbSNP and Humsavar for EEF1AKMT1 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs1000006396 -- 20,756,331(+) TTTTT(C/T)CTAAT intron-variant
rs1000118744 -- 20,751,621(+) GCTCA(C/G)GATTG intron-variant
rs1000220928 -- 20,744,702(+) ATTTG(C/T)CAATT intron-variant
rs1000239912 -- 20,759,675(+) GCAAA(A/G)TACAT intron-variant
rs1000273263 -- 20,744,911(+) TAGCC(A/G)GTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EEF1AKMT1 Gene

Variant ID Type Subtype PubMed ID
dgv6e24 CNV gain 17666407
nsv1078303 OTHER inversion 25765185
nsv1113545 CNV deletion 24896259
nsv1140246 OTHER inversion 24896259
nsv1151909 OTHER inversion 26484159
nsv832558 CNV loss 17160897
nsv951 CNV insertion 18451855

Variation tolerance for EEF1AKMT1 Gene

Residual Variation Intolerance Score: 39.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.56; 12.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EEF1AKMT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EEF1AKMT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EEF1AKMT1 Gene

Disorders for EEF1AKMT1 Gene

Relevant External Links for EEF1AKMT1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EEF1AKMT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EEF1AKMT1

No disorders were found for EEF1AKMT1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EEF1AKMT1 Gene

Publications for EEF1AKMT1 Gene

  1. Novel N-terminal and Lysine Methyltransferases That Target Translation Elongation Factor 1A in Yeast and Human. (PMID: 26545399) Hamey JJ … Wilkins MR (Molecular & cellular proteomics : MCP 2016) 2 3 4 60
  2. Transcriptome analysis of a cDNA library from adult human epididymis. (PMID: 18390568) Li JY … Zhang YL (DNA research : an international journal for rapid publication of reports on genes and genomes 2008) 3 4 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  4. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R … Iakoucheva LM (Nature communications 2014) 3 60
  5. Genetic determinants of P wave duration and PR segment. (PMID: 24850809) Verweij N … van der Harst P (Circulation. Cardiovascular genetics 2014) 3 60

Products for EEF1AKMT1 Gene

Sources for EEF1AKMT1 Gene

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