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

Gene ID: 399818, updated on 24-Nov-2021

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
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Genomic context

See EEF1AKMT2 in Genome Data Viewer
Location:
10q26.13
Exon count:
7
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (124757834..124791887, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (126446403..126480456, 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

Associated conditions

Description Tests
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: FAM53B

Homology

Clone Names

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

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in peptidyl-lysine dimethylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in peptidyl-lysine methylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in peptidyl-lysine monomethylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein methylation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in nuclear body IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in 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)

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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_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 (1) summary
    cl17173
    Location:25136
    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 Updated Annotation Release 109.20211119

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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