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    EEF1AKMT3 EEF1A lysine methyltransferase 3 [ Homo sapiens (human) ]

    Gene ID: 25895, updated on 30-Mar-2024

    Summary

    Official Symbol
    EEF1AKMT3provided by HGNC
    Official Full Name
    EEF1A lysine methyltransferase 3provided by HGNC
    Primary source
    HGNC:HGNC:24936
    See related
    Ensembl:ENSG00000123427 MIM:615258; AllianceGenome:HGNC:24936
    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
    FAM119B; METTL21B
    Summary
    Enables heat shock protein binding activity and protein-lysine N-methyltransferase activity. Involved in peptidyl-lysine methylation. Located in several cellular components, including centrosome; chromosome; and nucleoplasm. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 5.3), ovary (RPKM 4.3) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    12q14.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57772614..57782541)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57740963..57750909)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (58166397..58176324)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:58158104-58158882 Neighboring gene cytochrome P450 family 27 subfamily B member 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:58164747-58165946 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:58166052-58166561 Neighboring gene methyltransferase 1, tRNA methylguanosine Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:58176331-58177200 Neighboring gene Ts translation elongation factor, mitochondrial Neighboring gene advillin Neighboring gene RNA, U6 small nuclear 1083, pseudogene

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: TSFM

    Clone Names

    • DKFZp586D0919

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables heat shock protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables histone methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-lysine N-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein-lysine N-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein-lysine N-methyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peptidyl-lysine methylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in peptidyl-lysine methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in peptidyl-lysine methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome IDA
    Inferred from Direct Assay
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    part_of protein-containing complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    EEF1A lysine methyltransferase 3
    Names
    eEF1A-KMT3
    family with sequence similarity 119, member B
    hepatocellular carcinoma-associated antigen 557a
    hepatocellularcarcinoma-associated antigen HCA557a
    methyltransferase like 21B
    methyltransferase-like protein 21B
    protein-lysine methyltransferase METTL21B
    NP_056248.2
    NP_996797.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_015433.3NP_056248.2  EEF1A lysine methyltransferase 3 isoform a

      See identical proteins and their annotated locations for NP_056248.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AL050100, BC016395
      Consensus CDS
      CCDS8957.1
      UniProtKB/Swiss-Prot
      Q96AZ1, Q9H749, Q9Y3W2
      UniProtKB/TrEMBL
      A8K8B1
      Related
      ENSP00000300209.8, ENST00000300209.13
      Conserved Domains (1) summary
      cl17173
      Location:37195
      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_206914.2NP_996797.1  EEF1A lysine methyltransferase 3 isoform b

      See identical proteins and their annotated locations for NP_996797.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AL050100, BC016395
      Consensus CDS
      CCDS31848.1
      UniProtKB/Swiss-Prot
      Q96AZ1
      Related
      ENSP00000327425.5, ENST00000333012.5
      Conserved Domains (1) summary
      cl17173
      Location:37111
      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). ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      57772614..57782541
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      57740963..57750909
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)