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EEF1AKMT4 EEF1A lysine methyltransferase 4 [ Homo sapiens (human) ]

Gene ID: 110599564, updated on 22-May-2021

Summary

Official Symbol
EEF1AKMT4provided by HGNC
Official Full Name
EEF1A lysine methyltransferase 4provided by HGNC
Primary source
HGNC:HGNC:53611
See related
Ensembl:ENSG00000284753
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
Summary
This gene encodes a member of the lysine-specific methyltransferase (KMT) family. The encoded enzyme catalyzes the methylation of lysine-36 of the eukaryotic translation elongation factor 1 alpha. Methylation by this enzyme may affect endoplasmic reticulum-related processes. [provided by RefSeq, Jul 2017]
Annotation information
Note: This gene was annotated as ECE2 (GeneID:9718) until recently in Annotation Release 108. It is now annotated as an independent gene adjacent to GeneID:1978 based on published reports (PMID 28520920). [05 Jul 2017]
Orthologs
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Genomic context

See EEF1AKMT4 in Genome Data Viewer
Location:
3q27.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (184249672..184258759)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (183967460..183976547)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATP binding cassette subfamily F member 3 Neighboring gene von Willebrand factor A domain containing 5B2 Neighboring gene EEF1AKMT4-ECE2 readthrough Neighboring gene microRNA 1224 Neighboring gene ALG3 alpha-1,3- mannosyltransferase Neighboring gene calcium/calmodulin dependent protein kinase II inhibitor 2 Neighboring gene endothelin converting enzyme 2

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

General gene information

Readthrough EEF1AKMT4-ECE2

Readthrough gene: EEF1AKMT4-ECE2, Included gene: ECE2

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables methyltransferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables protein-lysine N-methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in peptidyl-lysine methylation IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
EEF1A lysine methyltransferase 4
Names
eukaryotic translation elongation factor 1 alpha lysine specific methyltransferase 4
NP_115707.2

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_032331.4NP_115707.2  EEF1A lysine methyltransferase 4

    See identical proteins and their annotated locations for NP_115707.2

    Status: VALIDATED

    Source sequence(s)
    BC005835, BC069005
    Consensus CDS
    CCDS3255.1
    Related
    ENSP00000314295.5, ENST00000324557.9
    Conserved Domains (1) summary
    pfam13649
    Location:62169
    Methyltransf_25; Methyltransferase domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    184249672..184258759
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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