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

Gene ID: 196483, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 8.0), thyroid (RPKM 6.9) and 25 other tissues See more
Orthologs
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (5084284..5097795, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (5113786..5127302, complement)
RS_2024_09 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 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. The FAM86 domain of FAM86A confers substrate specificity to promote EEF2-Lys525 methylation. Francis JW, et al. J Biol Chem, 2023 Jul. PMID 37209825, Free PMC Article
  2. 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
  3. 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
  4. 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
  5. 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

See all (18) 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 IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of translation IBA
Inferred from Biological aspect of Ancestor
more info
  
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_2024_08

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

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