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    EEF1AKMT2 EEF1A lysine methyltransferase 2 [ Homo sapiens (human) ]

    Gene ID: 399818, updated on 17-Jun-2019

    Summary

    Official Symbol
    EEF1AKMT2provided by HGNC
    Official Full Name
    EEF1A lysine methyltransferase 2provided by HGNC
    Primary source
    HGNC:HGNC:33787
    See related
    Ensembl:ENSG00000203791 MIM:617794
    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
    Efm4; METTL10; C10orf138
    Expression
    Ubiquitous expression in testis (RPKM 5.1), thyroid (RPKM 4.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See EEF1AKMT2 in Genome Data Viewer
    Location:
    10q26.13
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (124757834..124791887, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (126434336..126480439, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 53 member B Neighboring gene Sharpr-MPRA regulatory regions 4217 and 14470 Neighboring gene FAM53B antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 10105 Neighboring gene abraxas 2, BRISC complex subunit Neighboring gene uncharacterized LOC107984160 Neighboring gene nucleophosmin 1 pseudogene 31

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Protein methylation, organism-specific biosystem (from REACTOME)
      Protein methylation, organism-specific biosystemMethylation of lysine (Lys) and arginine (Arg) residues on non-histone proteins is a prevalent post-translational modification and important regulator of cellular signal transduction pathways includi...

    General gene information

    Markers

    Potential readthrough

    Included gene: FAM53B

    Homology

    Clone Names

    • FLJ13019, MGC26857, DKFZp667O2018, Em:AC068896.3

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein-lysine N-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein-lysine N-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein-lysine N-methyltransferase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    peptidyl-lysine dimethylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    peptidyl-lysine methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptidyl-lysine monomethylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein methylation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    EEF1A lysine methyltransferase 2
    Names
    eukaryotic translation elongation factor 1 alpha lysine methyltransferase 2
    methyltransferase like 10
    methyltransferase-like protein 10
    protein-lysine N-methyltransferase METTL10
    NP_001291396.1
    NP_001291397.1
    NP_997719.2

    NCBI Reference Sequences (RefSeq)

    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_001304467.2NP_001291396.1  EEF1A lysine methyltransferase 2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) initates translation at an alternate start codon and uses an alternate splice donor site in the 5' coding region compared to variant (1). It encodes isoform 2, which has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AA776892, AC068896, AK022354, AL832292, HY048148
      UniProtKB/Swiss-Prot
      Q5JPI9
      Conserved Domains (2) summary
      COG0500
      Location:2116
      SmtA; SAM-dependent methyltransferase [Secondary metabolites biosynthesis, transport and catabolism, General function prediction only]
      cl17173
      Location:22110
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
    2. NM_001304468.2NP_001291397.1  EEF1A lysine methyltransferase 2 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) initates translation at an alternate start codon, uses an alternate splice donor site in the 5' coding region, and lacks an exon in the 3' coding region compared to variant 1. It encodes isoform 3, which is shorter and has distinct N- and C-termini compared to isoform 1.
      Source sequence(s)
      AA776892, AC068896, AF318345, AK022354, BI551093, HY048148
      UniProtKB/TrEMBL
      Q8WYV4
      Conserved Domains (2) summary
      COG0500
      Location:2116
      SmtA; SAM-dependent methyltransferase [Secondary metabolites biosynthesis, transport and catabolism, General function prediction only]
      cl17173
      Location:22110
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
    3. NM_212554.4NP_997719.2  EEF1A lysine methyltransferase 2 isoform 1

      See identical proteins and their annotated locations for NP_997719.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AA776892, AC068896, AK022354, AL832292, BC026167, HY048148
      Consensus CDS
      CCDS31307.1
      UniProtKB/Swiss-Prot
      Q5JPI9
      UniProtKB/TrEMBL
      Q8TC28
      Related
      ENSP00000357829.2, ENST00000368836.7
      Conserved Domains (2) summary
      COG0500
      Location:34194
      SmtA; SAM-dependent methyltransferase [Secondary metabolites biosynthesis, transport and catabolism, General function prediction only]
      pfam13847
      Location:80188
      Methyltransf_31; Methyltransferase domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      124757834..124791887 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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