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EEF1AKMT1 EEF1A lysine methyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 221143, updated on 4-Jun-2020

Summary

Official Symbol
EEF1AKMT1provided by HGNC
Official Full Name
EEF1A lysine methyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:27351
See related
Ensembl:ENSG00000150456 MIM:617793
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
ESP13; N6AMT2
Expression
Ubiquitous expression in prostate (RPKM 5.0), endometrium (RPKM 4.9) and 25 other tissues See more
Orthologs

Genomic context

See EEF1AKMT1 in Genome Data Viewer
Location:
13q12.11
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (20728731..20773961, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (21302036..21348095, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene intraflagellar transport 88 Neighboring gene RNA, U2 small nuclear 7, pseudogene Neighboring gene interleukin 17D Neighboring gene RAN pseudogene 8 Neighboring gene exportin 4 Neighboring gene CCR4-NOT transcription complex subunit 4 pseudogene 1

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
nucleic acid binding IEA
Inferred from Electronic Annotation
more info
 
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 methylation IDA
Inferred from Direct Assay
more info
PubMed 
protein methylation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
EEF1A lysine methyltransferase 1
Names
N-6 adenine-specific DNA methyltransferase 2 (putative)
eukaryotic translation elongation factor 1 alpha lysine methyltransferase 1
n(6)-adenine-specific DNA methyltransferase 2
protein-lysine N-methyltransferase N6AMT2
NP_001305868.1
NP_777588.1
XP_016875921.1

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_001318939.2NP_001305868.1  EEF1A lysine methyltransferase 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK316604, AL512652, AL597222, DQ823637
    Consensus CDS
    CCDS9293.1
    UniProtKB/Swiss-Prot
    Q8WVE0
    UniProtKB/TrEMBL
    A0A024RDN3, B2RE94
    Related
    ENSP00000372206.1, ENST00000382758.6
    Conserved Domains (1) summary
    pfam10237
    Location:46161
    N6-adenineMlase; Probable N6-adenine methyltransferase
  2. NM_174928.2NP_777588.1  EEF1A lysine methyltransferase 1

    See identical proteins and their annotated locations for NP_777588.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL597222, BC018091, DQ823637, HY004043
    Consensus CDS
    CCDS9293.1
    UniProtKB/Swiss-Prot
    Q8WVE0
    UniProtKB/TrEMBL
    A0A024RDN3
    Related
    ENSP00000372202.4, ENST00000382754.4
    Conserved Domains (1) summary
    pfam10237
    Location:46161
    N6-adenineMlase; Probable N6-adenine methyltransferase

RNA

  1. NR_134934.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks a frameshifting exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL597222, DA514874, DQ823637

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_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    20728731..20773961 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020432.1XP_016875921.1  EEF1A lysine methyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q8WVE0
    UniProtKB/TrEMBL
    A0A024RDN3
    Conserved Domains (1) summary
    pfam10237
    Location:46161
    N6-adenineMlase; Probable N6-adenine methyltransferase
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