EEF1E1 - eukaryotic translation elongation factor 1 epsilon 1 Gene

Homo sapiens

Also known as P18; AIMP3

Gene ID: 9521 | Gene type: protein coding

About EEF1E1

Cytogenetic location: 6p24.3 Genomic coordinates (GRCh38): 6:8,073,360-8,102,548 (from NCBI)

This gene has 6 transcripts (splice variants) and 203 orthologues. Ubiquitous expression in testis (RPKM 14.5), kidney (RPKM 11.4) and 25 other tissues.

Summary

This gene encodes a multifunctional protein that localizes to both the cytoplasm and nucleus. In the cytoplasm, the encoded protein is an auxiliary component of the macromolecular aminoacyl-tRNA synthase complex. However, its mouse homolog has been shown to translocate to the nucleus in response to DNA damage, and it plays a positive role in ATM/ATR-mediated p53 activation. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream MUTED (muted homolog) gene. An EEF1E1-related pseudogene has been identified on chromosome 2. [provided by RefSeq, Dec 2010]

EEF1E1 Products(2)

mRNA	Protein	Name
NM_001135650.2	NP_001129122.1	eukaryotic translation elongation factor 1 epsilon-1 isoform 2
NM_004280.5	NP_004271.1	eukaryotic translation elongation factor 1 epsilon-1 isoform 1

EEF1E1 Protein Structure

GST_C_3

0
100
174 a.a.

Protein Preferred Names

Protein Names

eukaryotic translation elongation factor 1 epsilon-1

ARS-interacting multifunctional protein 3

Recombinant EEF1E1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76314	EEF1E1 Protein, Human (His)	O43324 (M1-H174)	≥95%

Related Diseases

Diseases

Alias

Leukodystrophy, Hypomyelinating, 3

Hypomyelinating Leukodystrophy 3	HLD3
Pelizaeus-Merzbacher-Like Disease Due To Aimp1 Mutation	Leukodystrophy, Hypomyelinating 3
Perinatal Sudanophilic Leukodystrophy	Leukodystrophy, Hypomyelinating, Type 3
Pelizaeus-Merzbacher-Like Disease, Autosomal Recessive, 2

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04178	EEF1E1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	EEF1E1	RGD	RGD:1311056
Mus musculus	EEF1E1	MGD	MGI:1913393
Others	EEF1E1	NCBI

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