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    EEF2KMT eukaryotic elongation factor 2 lysine methyltransferase [ Homo sapiens (human) ]

    Gene ID: 196483, updated on 5-Mar-2024

    Summary

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    Official Symbol
    EEF2KMTprovided by HGNC
    Official Full Name
    eukaryotic elongation factor 2 lysine methyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:32221
    See related
    Ensembl:ENSG00000118894 MIM:615263; AllianceGenome:HGNC:32221
    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
    EFM3; SB153; FAM86A; eEF2-KMT
    Summary
    Enables protein-lysine N-methyltransferase activity. Involved in peptidyl-lysine trimethylation. Located in cytoplasm. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 8.0), thyroid (RPKM 6.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EEF2KMT in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (5084284..5097795, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (5113786..5127302, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (5134285..5147796, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 11332 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:5078448-5079647 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:5083173-5083674 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10347 Neighboring gene NAGPA antisense RNA 1 Neighboring gene N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase Neighboring gene chromosome 16 open reading frame 89 Neighboring gene Sharpr-MPRA regulatory region 9075 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10349 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:5132135-5132636 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:5132637-5133136 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:5134229-5135141 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:5139758-5140258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:5140259-5140759 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:5145374-5145926 Neighboring gene ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:5147415-5148040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7174 Neighboring gene uncharacterized LOC107984828 Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 14 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:5173257-5173758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:5173759-5174258 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:5184682-5185456 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:5185457-5186232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10351 Neighboring gene MPRA-validated peak2477 silencer Neighboring gene uncharacterized LOC105371067 Neighboring gene VPS51 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
    • 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. Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins. Toro C, et al. BMC Neurol, 2013 Mar 20. PMID 23514108, Free PMC Article
    2. Identification and characterization of a novel evolutionarily conserved lysine-specific methyltransferase targeting eukaryotic translation elongation factor 2 (eEF2). Davydova E, et al. J Biol Chem, 2014 Oct 31. PMID 25231979, Free PMC Article
    3. Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. Robertson NG, et al. Genomics, 1994 Sep 1. PMID 7829101
    4. A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. Cloutier P, et al. PLoS Genet, 2013. PMID 23349634, Free PMC Article
    5. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. Fox CS, et al. PLoS Genet, 2012. PMID 22589738, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The FAM86 domain of FAM86A confers substrate specificity to promote EEF2-Lys525 methylation.
      Title: The FAM86 domain of FAM86A confers substrate specificity to promote EEF2-Lys525 methylation.
    2. Previously uncharacterized lysine-specific methyltransferase FAM86A and Yjr129c introduce a functionally important lysine methylation in eEF2.
      Title: Identification and characterization of a novel evolutionarily conserved lysine-specific methyltransferase targeting eukaryotic translation elongation factor 2 (eEF2).
    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

    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

    Clone Names

    • MGC19636

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables histone methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 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 trimethylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in peptidyl-lysine trimethylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    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

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    Preferred Names
    protein-lysine N-methyltransferase EEF2KMT
    Names
    eEF2-lysine methyltransferase
    family with sequence similarity 86, member A
    protein FAM86A
    putative protein N-methyltransferase FAM86A

    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_001289029.2 → NP_001275958.1  protein-lysine N-methyltransferase EEF2KMT isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two alternate exons in the coding region compared to variant 1. The resulting protein (isoform 3) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC026458
      Consensus CDS
      CCDS73823.1
      UniProtKB/TrEMBL
      K7ES84
      Related
      ENSP00000468599.1, ENST00000587133.1
      Conserved Domains (2) summary
      pfam14904
      Location:6 → 53
      FAM86; Family of unknown function
      cl17173
      Location:74 → 225
      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_201400.4 → NP_958802.1  protein-lysine N-methyltransferase EEF2KMT isoform 1

      See identical proteins and their annotated locations for NP_958802.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
      Source sequence(s)
      AC026458
      Consensus CDS
      CCDS10529.1
      UniProtKB/Swiss-Prot
      D3DUF0, Q96G04, Q96S85
      Related
      ENSP00000398502.3, ENST00000427587.9
      Conserved Domains (2) summary
      pfam14904
      Location:6 → 97
      FAM86; Family of unknown function
      cl17173
      Location:135 → 286
      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_201598.4 → NP_963892.1  protein-lysine N-methyltransferase EEF2KMT isoform 2

      See identical proteins and their annotated locations for NP_963892.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC026458
      Consensus CDS
      CCDS10530.1
      Related
      ENSP00000389710.3, ENST00000458008.8
      Conserved Domains (2) summary
      pfam14904
      Location:6 → 80
      FAM86; Family of unknown function
      cl17173
      Location:101 → 252
      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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      5084284..5097795 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005255157.5 → XP_005255214.1  protein-lysine N-methyltransferase EEF2KMT isoform X1

      Conserved Domains (2) summary
      pfam14904
      Location:6 → 70
      FAM86; Family of unknown function
      cl17173
      Location:108 → 259
      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. XM_011522404.3 → XP_011520706.1  protein-lysine N-methyltransferase EEF2KMT isoform X2

      See identical proteins and their annotated locations for XP_011520706.1

      Conserved Domains (1) summary
      cl17173
      Location:35 → 186
      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. XM_005255158.5 → XP_005255215.1  protein-lysine N-methyltransferase EEF2KMT isoform X2

      See identical proteins and their annotated locations for XP_005255215.1

      Conserved Domains (1) summary
      cl17173
      Location:35 → 186
      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). ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      5113786..5127302 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379741.1 → XP_054235716.1  protein-lysine N-methyltransferase EEF2KMT isoform X1

    2. XM_054379743.1 → XP_054235718.1  protein-lysine N-methyltransferase EEF2KMT isoform X2

    3. XM_054379742.1 → XP_054235717.1  protein-lysine N-methyltransferase EEF2KMT isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96G04.2 GenPept UniProtKB/Swiss-Prot:Q96G04

    Gene LinkOut

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

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