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

Summary

Official Symbol: EEF1AKMT4provided by HGNC
Official Full Name: EEF1A lysine methyltransferase 4provided by HGNC
Primary source: HGNC:HGNC:53611
See related: Ensembl:ENSG00000284753 AllianceGenome:HGNC:53611
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: mouse all
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Genomic context

Location:: 3q27.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (184249672..184258759)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (187058960..187068061)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (183967460..183976547)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Methylation of lysine (K36) in eukaryotic elongation factor alpha (eEF1A) proteins is dependent on EEF1A lysine methyltransferase 4 (eEF1A-KMT4) in vivo.
Title: Methylation of human eukaryotic elongation factor alpha (eEF1A) by a member of a novel protein lysine methyltransferase family modulates mRNA translation.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

General gene information

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Readthrough EEF1AKMT4-ECE2

Readthrough gene: EEF1AKMT4-ECE2, Included gene: ECE2

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 methylation	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: EEF1A lysine methyltransferase 4

Names: eukaryotic translation elongation factor 1 alpha lysine specific methyltransferase 4

NP_115707.2

EC 2.1.1.-

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.