Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9521
Gene name	Eukaryotic translation elongation factor 1 epsilon 1
Gene symbol	EEF1E1
Synonyms (NCBI Gene)	AIMP3P18
Chromosome	6
Chromosome location	6p24.3
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

105

Show/Hide all (105)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020944	hsa-miR-155-5p	Proteomics	19136465
MIRT032471	hsa-let-7b-5p	Proteomics	18668040
MIRT658822	hsa-miR-766-5p	HITS-CLIP	23824327
MIRT658821	hsa-miR-548s	HITS-CLIP	23824327
MIRT658819	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT658820	hsa-miR-588	HITS-CLIP	23824327
MIRT658818	hsa-miR-4435	HITS-CLIP	23824327
MIRT658817	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT658816	hsa-miR-4432	HITS-CLIP	23824327
MIRT658815	hsa-miR-8087	HITS-CLIP	23824327
MIRT658814	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT658813	hsa-miR-499a-5p	HITS-CLIP	23824327
MIRT658812	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT658822	hsa-miR-766-5p	HITS-CLIP	23824327
MIRT658821	hsa-miR-548s	HITS-CLIP	23824327
MIRT658819	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT658820	hsa-miR-588	HITS-CLIP	23824327
MIRT658818	hsa-miR-4435	HITS-CLIP	23824327
MIRT658817	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT658816	hsa-miR-4432	HITS-CLIP	23824327
MIRT658815	hsa-miR-8087	HITS-CLIP	23824327
MIRT658814	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT658813	hsa-miR-499a-5p	HITS-CLIP	23824327
MIRT658812	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT658822	hsa-miR-766-5p	HITS-CLIP	23824327
MIRT658821	hsa-miR-548s	HITS-CLIP	23824327
MIRT658819	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT658820	hsa-miR-588	HITS-CLIP	23824327
MIRT658818	hsa-miR-4435	HITS-CLIP	23824327
MIRT658817	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT658816	hsa-miR-4432	HITS-CLIP	23824327
MIRT658815	hsa-miR-8087	HITS-CLIP	23824327
MIRT658814	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT658813	hsa-miR-499a-5p	HITS-CLIP	23824327
MIRT658812	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT658822	hsa-miR-766-5p	HITS-CLIP	23824327
MIRT658821	hsa-miR-548s	HITS-CLIP	23824327
MIRT658819	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT658820	hsa-miR-588	HITS-CLIP	23824327
MIRT658818	hsa-miR-4435	HITS-CLIP	23824327
MIRT658817	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT658816	hsa-miR-4432	HITS-CLIP	23824327
MIRT658815	hsa-miR-8087	HITS-CLIP	23824327
MIRT658814	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT658813	hsa-miR-499a-5p	HITS-CLIP	23824327
MIRT658812	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT953117	hsa-miR-548ac	CLIP-seq
MIRT953118	hsa-miR-548ae	CLIP-seq
MIRT953119	hsa-miR-548aj	CLIP-seq
MIRT953120	hsa-miR-548am	CLIP-seq
MIRT953121	hsa-miR-548d-3p	CLIP-seq
MIRT953122	hsa-miR-548x	CLIP-seq
MIRT953123	hsa-miR-548z	CLIP-seq
MIRT953124	hsa-miR-624	CLIP-seq
MIRT1982216	hsa-miR-1914	CLIP-seq
MIRT1982217	hsa-miR-4540	CLIP-seq
MIRT1982218	hsa-miR-4775	CLIP-seq
MIRT1982219	hsa-miR-518d-5p	CLIP-seq
MIRT1982220	hsa-miR-519b-5p	CLIP-seq
MIRT1982221	hsa-miR-519c-5p	CLIP-seq
MIRT1982222	hsa-miR-520c-5p	CLIP-seq
MIRT1982223	hsa-miR-526a	CLIP-seq
MIRT1982224	hsa-miR-587	CLIP-seq
MIRT1982225	hsa-miR-601	CLIP-seq
MIRT1982226	hsa-miR-943	CLIP-seq
MIRT2217018	hsa-miR-1324	CLIP-seq
MIRT2217019	hsa-miR-181a	CLIP-seq
MIRT2217020	hsa-miR-181b	CLIP-seq
MIRT2217021	hsa-miR-181c	CLIP-seq
MIRT2217022	hsa-miR-181d	CLIP-seq
MIRT2217023	hsa-miR-203	CLIP-seq
MIRT2217024	hsa-miR-3908	CLIP-seq
MIRT2217025	hsa-miR-3942-5p	CLIP-seq
MIRT2217026	hsa-miR-4262	CLIP-seq
MIRT2217027	hsa-miR-4695-3p	CLIP-seq
MIRT2217028	hsa-miR-4703-5p	CLIP-seq
MIRT2217029	hsa-miR-4731-3p	CLIP-seq
MIRT2217030	hsa-miR-4766-3p	CLIP-seq
MIRT2217031	hsa-miR-4801	CLIP-seq
MIRT2217032	hsa-miR-543	CLIP-seq
MIRT2217033	hsa-miR-633	CLIP-seq
MIRT2521153	hsa-miR-1323	CLIP-seq
MIRT2521154	hsa-miR-186	CLIP-seq
MIRT2521155	hsa-miR-2116	CLIP-seq
MIRT2521156	hsa-miR-3133	CLIP-seq
MIRT2521157	hsa-miR-361-5p	CLIP-seq
MIRT2521158	hsa-miR-3646	CLIP-seq
MIRT2521159	hsa-miR-3662	CLIP-seq
MIRT2521160	hsa-miR-3936	CLIP-seq
MIRT2521161	hsa-miR-4277	CLIP-seq
MIRT2521162	hsa-miR-4311	CLIP-seq
MIRT2521163	hsa-miR-4517	CLIP-seq
MIRT2521164	hsa-miR-4668-5p	CLIP-seq
MIRT2521165	hsa-miR-4744	CLIP-seq
MIRT2521166	hsa-miR-495	CLIP-seq
MIRT2521167	hsa-miR-518a-5p	CLIP-seq
MIRT2521168	hsa-miR-527	CLIP-seq
MIRT2521169	hsa-miR-548c-3p	CLIP-seq
MIRT2521170	hsa-miR-548o	CLIP-seq
MIRT2521171	hsa-miR-590-3p	CLIP-seq
MIRT2521155	hsa-miR-2116	CLIP-seq
MIRT2521157	hsa-miR-361-5p	CLIP-seq
MIRT2521160	hsa-miR-3936	CLIP-seq
MIRT2521161	hsa-miR-4277	CLIP-seq
MIRT2521166	hsa-miR-495	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21516116, 22190034, 25416956
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IDA	19289464
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006412	Process	Translation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	ISS
GO:0017101	Component	Aminoacyl-tRNA synthetase multienzyme complex	IBA
GO:0017101	Component	Aminoacyl-tRNA synthetase multienzyme complex	IDA	19131329
GO:0017101	Component	Aminoacyl-tRNA synthetase multienzyme complex	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043065	Process	Positive regulation of apoptotic process	ISS
GO:0043517	Process	Positive regulation of DNA damage response, signal transduction by p53 class mediator	IEA
GO:0043517	Process	Positive regulation of DNA damage response, signal transduction by p53 class mediator	ISS
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA
GO:2000774	Process	Positive regulation of cellular senescence	IDA	25465621
GO:2001235	Process	Positive regulation of apoptotic signaling pathway	IEA

MIM	HGNC	e!Ensembl
609206	3212	ENSG00000124802

O43324

Protein name

Eukaryotic translation elongation factor 1 epsilon-1 (Aminoacyl tRNA synthetase complex-interacting multifunctional protein 3) (Elongation factor p18) (Multisynthase complex auxiliary component p18)

Protein function

Positive modulator of ATM response to DNA damage.

PDB

2UZ8 , 4BL7 , 4BVX , 4BVY , 5BMU , 5Y6L

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00043	GST_C	44 → 153	Glutathione S-transferase, C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Down-regulated in various cancer tissues. {ECO:0000269|PubMed:15680327}.

Sequence

MAAAAELSLLEKSLGLSKGNKYSAQGERQIPVLQTNNGPSLTGLTTIAAHLVKQANKEYL
LGSTAEEKAIVQQWLEYRVTQVDGHSSKNDIHTLLKDLNSYLEDKVYLTGYNFTLADILL
YYGLHRFIVDLTVQEKEKYLNVSRWFCHIQHYPGIRQHLSSVVFIKNRLYTNSH

Sequence length

174

Interactions

View interactions

	Reactome
			Cytosolic tRNA aminoacylation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (53)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute leukemia	Leukemia	BEFREE	8637234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	7606004, 8637234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	8637234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	BEFREE	30020076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	31059041		★★★★★ ★☆☆☆☆ Found in Text Mining only
ARTERIAL TORTUOSITY SYNDROME	Arterial Tortuosity Syndrome	BEFREE	30073364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	28689116		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	8397372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	24917520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27259808, 9636670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	24917520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29342219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	7606004, 8637234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	30894510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	27226330		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial medullary thyroid carcinoma	Medullary thyroid carcinoma	BEFREE	18316595		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	8628020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	8397372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	29342219	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	15009006		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	7577621, 8397372, 9031081, 9639410		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22685290, 31639400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	22685290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	8397372, 8628020, 9031081		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Large-Cell, Follicular	Lymphoma	BEFREE	7579381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	7579381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	7579381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27259808, 9636670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29342219, 7882351, 8631583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	24917520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29298882, 8397372, 8637248, 9973200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	8840966		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	18316595, 20878247		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	9724087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	10736068, 11263500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	27226330		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	11840272, 9012694		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	28549617, 9111168		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10736068, 11343236, 11840272, 22685290, 2278968, 24917520, 28627623, 28797100, 29996906, 30302025, 7577621, 7579381, 8397372, 8570224, 8631583, 8637248, 8840966, 9639410, 9724087 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	8665486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumors	Neuroectodermal Tumors	BEFREE	2278968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	2278968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21145615		★★★★★ ★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	10994011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	8603340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	15009006, 9286748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	7606004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Radiation Syndrome	Radiation Syndrome	BEFREE	30302025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	11343236, 27229858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	11466260, 26694999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	8603340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	31760199		★★★★★ ★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	10994011		★★★★★ ★☆☆☆☆ Found in Text Mining only

EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1)