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

    Gene ID: 221143, updated on 2-Nov-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, Nov 2024]
    Expression
    Ubiquitous expression in prostate (RPKM 5.0), endometrium (RPKM 4.9) and 25 other tissues See more
    Orthologs
    mouse all
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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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 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)

    Genotypes

    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
    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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