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EEF1AKMT1 EEF1A lysine methyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 221143, updated on 10-Dec-2024

Summary

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Official Symbol
EEF1AKMT1provided by HGNC
Official Full Name
EEF1A lysine methyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:27351
See related
Ensembl:ENSG00000150456 MIM:617793; AllianceGenome:HGNC:27351
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
ESP13; N6AMT2; eEF1A-KMT
Summary
Enables protein-lysine N-methyltransferase activity. Involved in peptidyl-lysine methylation. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Dec 2024]
Expression
Ubiquitous expression in prostate (RPKM 5.0), endometrium (RPKM 4.9) and 25 other tissues See more
Orthologs
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Genomic context

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See EEF1AKMT1 in Genome Data Viewer
Location:
13q12.11
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (20728731..20773961, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (19921875..19967105, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (21302870..21348100, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene intraflagellar transport 88 Neighboring gene RNA, U2 small nuclear 7, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5155 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5156 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5157 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr13:21290864-21291578 Neighboring gene Sharpr-MPRA regulatory region 1468 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:21303728-21304255 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:21304256-21304782 Neighboring gene interleukin 17D Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7426 Neighboring gene RAN pseudogene 8 Neighboring gene exportin 4 Neighboring gene uncharacterized LOC124903129 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7427 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5158 Neighboring gene CCR4-NOT transcription complex subunit 4 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. Transcriptome analysis of a cDNA library from adult human epididymis. Li JY, et al. DNA Res, 2008 Jun 30. PMID 18390568, Free PMC Article
  2. Novel N-terminal and Lysine Methyltransferases That Target Translation Elongation Factor 1A in Yeast and Human. Hamey JJ, et al. Mol Cell Proteomics, 2016 Jan. PMID 26545399, Free PMC Article
  3. Genetic determinants of P wave duration and PR segment. Verweij N, et al. Circ Cardiovasc Genet, 2014 Aug. PMID 24850809, Free PMC Article
  4. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. Corominas R, et al. Nat Commun, 2014 Apr 11. PMID 24722188, Free PMC Article
  5. A Role for Mitochondrial Translation in Promotion of Viability in K-Ras Mutant Cells. Martin TD, et al. Cell Rep, 2017 Jul 11. PMID 28700943, Free PMC Article

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Data indicate that the methylation of lysine (Lys) in elongation factor 1A (eEF1A) by methyltransferase is conserved from yeast to human.
    Title: Novel N-terminal and Lysine Methyltransferases That Target Translation Elongation Factor 1A in Yeast and Human.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic determinants of P wave duration and PR segment.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables histone methyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables methyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables nucleic acid binding IEA
Inferred from Electronic Annotation
more info
  
enables protein-lysine N-methyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein-lysine N-methyltransferase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
  
involved_in peptidyl-lysine methylation IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
EEF1A lysine methyltransferase 1
Names
N-6 adenine-specific DNA methyltransferase 2 (putative)
eukaryotic translation elongation factor 1 alpha lysine methyltransferase 1
n(6)-adenine-specific DNA methyltransferase 2
protein-lysine N-methyltransferase N6AMT2
NP_001305868.1
NP_777588.1
XP_016875921.1
XP_054230180.1

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_001318939.2 → NP_001305868.1  EEF1A lysine methyltransferase 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK316604, AL512652, AL597222, DQ823637
    Consensus CDS
    CCDS9293.1
    UniProtKB/Swiss-Prot
    B5G4V1, Q8WVE0
    UniProtKB/TrEMBL
    B2RE94
    Related
    ENSP00000372206.1, ENST00000382758.6
    Conserved Domains (1) summary
    pfam10237
    Location:46 → 161
    N6-adenineMlase; Probable N6-adenine methyltransferase

  2. NM_174928.3 → NP_777588.1  EEF1A lysine methyltransferase 1

    See identical proteins and their annotated locations for NP_777588.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL512652, AL597222, BC018091, DQ823637, HY004043
    Consensus CDS
    CCDS9293.1
    UniProtKB/Swiss-Prot
    B5G4V1, Q8WVE0
    UniProtKB/TrEMBL
    B2RE94
    Related
    ENSP00000372202.4, ENST00000382754.4
    Conserved Domains (1) summary
    pfam10237
    Location:46 → 161
    N6-adenineMlase; Probable N6-adenine methyltransferase

RNA

  1. NR_134934.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks a frameshifting exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL512652, AL597222, DA514874, DQ823637

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_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    20728731..20773961 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020432.2 → XP_016875921.1  EEF1A lysine methyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    B5G4V1, Q8WVE0
    UniProtKB/TrEMBL
    B2RE94
    Conserved Domains (1) summary
    pfam10237
    Location:46 → 161
    N6-adenineMlase; Probable N6-adenine methyltransferase

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    19921875..19967105 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054374205.1 → XP_054230180.1  EEF1A lysine methyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    B5G4V1, Q8WVE0
    UniProtKB/TrEMBL
    B2RE94
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WVE0.1 GenPept UniProtKB/Swiss-Prot:Q8WVE0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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