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

Gene ID: 196483, updated on 10-Dec-2019

Summary

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
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
Expression
Ubiquitous expression in testis (RPKM 8.0), thyroid (RPKM 6.9) and 25 other tissues See more
Orthologs

Genomic context

See EEF2KMT in Genome Data Viewer
Location:
16p13.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (5084284..5097820, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (5134301..5147789, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes 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 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Neighboring gene uncharacterized LOC107984828 Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 14 Neighboring gene uncharacterized LOC105371067 Neighboring gene long intergenic non-protein coding RNA 2164

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?

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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC19636

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
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 trimethylation IDA
Inferred from Direct Assay
more info
PubMed 
protein methylation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_001289029.1NP_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)
    AI669435, AL522535, AY037162, BI491350, BM691620, HY017433, HY265953
    Consensus CDS
    CCDS73823.1
    UniProtKB/Swiss-Prot
    Q96G04
    UniProtKB/TrEMBL
    K7ES84
    Related
    ENSP00000468599.1, ENST00000587133.1
    Conserved Domains (2) summary
    pfam14904
    Location:653
    FAM86; Family of unknown function
    cl17173
    Location:74225
    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_201400.4NP_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
    Q96G04
    Related
    ENSP00000398502.3, ENST00000427587.9
    Conserved Domains (2) summary
    pfam14904
    Location:697
    FAM86; Family of unknown function
    cl17173
    Location:135286
    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_201598.3NP_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)
    AI669435, AY037162, BI491350, BM691620, HY017433, HY265953
    Consensus CDS
    CCDS10530.1
    UniProtKB/Swiss-Prot
    Q96G04
    Related
    ENSP00000389710.3, ENST00000458008.8
    Conserved Domains (2) summary
    pfam14904
    Location:680
    FAM86; Family of unknown function
    cl17173
    Location:101252
    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: Homo sapiens Updated 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_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    5084284..5097820 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005255157.4XP_005255214.1  protein-lysine N-methyltransferase EEF2KMT isoform X1

    Conserved Domains (2) summary
    pfam14904
    Location:670
    FAM86; Family of unknown function
    cl17173
    Location:108259
    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_011522404.2XP_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:35186
    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_005255158.4XP_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:35186
    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). ...
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