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

Gene ID: 221143, updated on 29-Oct-2022

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; AllianceGenome:HGNC:27351
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; eEF1A-KMT
Summary
Enables protein-lysine N-methyltransferase activity. Involved in peptidyl-lysine methylation. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in prostate (RPKM 5.0), endometrium (RPKM 4.9) and 25 other tissues See more
Orthologs
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Genomic context

See EEF1AKMT1 in Genome Data Viewer
Location:
13q12.11
Exon count:
6
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (20728731..20773961, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (19921875..19967105, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (21302870..21348100, 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 uncharacterized LOC124903129 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
enables methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables nucleic acid binding IEA
Inferred from Electronic Annotation
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 peptidyl-lysine methylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein methylation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
located_in 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)

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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_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
    B5G4V1, 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_174928.3NP_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)
    AL512652, AL597222, BC018091, DQ823637, HY004043
    Consensus CDS
    CCDS9293.1
    UniProtKB/Swiss-Prot
    B5G4V1, 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_134934.2 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)
    AL512652, AL597222, DA514874, DQ823637

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017020432.2XP_016875921.1  EEF1A lysine methyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    B5G4V1, Q8WVE0
    UniProtKB/TrEMBL
    A0A024RDN3
    Conserved Domains (1) summary
    pfam10237
    Location:46161
    N6-adenineMlase; Probable N6-adenine methyltransferase

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    19921875..19967105 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)