EEF1E1

Summary

EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1, HGNC:3212) is a protein-coding gene on chromosome 6p24.3, encoding Eukaryotic translation elongation factor 1 epsilon-1 (O43324). Positive modulator of ATM response to DNA damage.

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.

Source: NCBI Gene 9521 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 15 total
• Druggable target: yes
• MANE Select transcript: NM_004280

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3212
Approved symbol	EEF1E1
Name	eukaryotic translation elongation factor 1 epsilon 1
Location	6p24.3
Locus type	gene with protein product
Status	Approved
Aliases	AIMP3
Ensembl gene	ENSG00000124802
Ensembl biotype	protein_coding
OMIM	609206
Entrez	9521

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 8 protein_coding

ENST00000379715, ENST00000429723, ENST00000488226, ENST00000502429, ENST00000507463, ENST00000515633, ENST00000914418, ENST00000914419

RefSeq mRNA: 2 — MANE Select: NM_004280 NM_001135650, NM_004280

CCDS: CCDS4507, CCDS47370

Canonical transcript exons

ENST00000379715 — 4 exons

Exon	Start	End
ENSE00001482244	8079395	8080030
ENSE00002043803	8102435	8102548
ENSE00003572350	8090186	8090281
ENSE00003671762	8097267	8097467

Expression profiles

Bgee: expression breadth ubiquitous, 291 present calls, max score 95.66.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0145 / max 6.3152, expressed in 5 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
71641	44.0664	1807
71640	0.0145	5

Top tissues by expression

295 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
pons	UBERON:0000988	95.66	gold quality
oocyte	CL:0000023	95.41	gold quality
right testis	UBERON:0004534	95.33	gold quality
adrenal tissue	UBERON:0018303	94.82	gold quality
left testis	UBERON:0004533	94.80	gold quality
islet of Langerhans	UBERON:0000006	94.68	gold quality
testis	UBERON:0000473	94.35	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	93.89	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	93.74	gold quality
metanephros cortex	UBERON:0010533	93.30	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	92.57	gold quality
embryo	UBERON:0000922	92.40	gold quality
right adrenal gland	UBERON:0001233	92.34	gold quality
hypothalamus	UBERON:0001898	92.17	gold quality
left adrenal gland	UBERON:0001234	92.13	gold quality
body of pancreas	UBERON:0001150	92.03	gold quality
superior vestibular nucleus	UBERON:0007227	92.01	gold quality
prefrontal cortex	UBERON:0000451	91.93	gold quality
ganglionic eminence	UBERON:0004023	91.93	gold quality
spinal cord	UBERON:0002240	91.87	gold quality
sperm	CL:0000019	91.78	gold quality
left adrenal gland cortex	UBERON:0035825	91.78	gold quality
right adrenal gland cortex	UBERON:0035827	91.72	gold quality
adenohypophysis	UBERON:0002196	91.64	gold quality
endometrium	UBERON:0001295	91.62	gold quality
pancreas	UBERON:0001264	91.60	gold quality
adult mammalian kidney	UBERON:0000082	91.47	gold quality
adrenal gland	UBERON:0002369	91.37	gold quality
endometrium epithelium	UBERON:0004811	91.37	gold quality
metanephros	UBERON:0000081	91.32	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.28
E-CURD-112	yes	8.12

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

47 targeting EEF1E1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-891B	99.59	69.81	1083
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-6832-3P	99.52	70.44	1726
HSA-MIR-203A-3P	99.49	70.56	2806
HSA-MIR-3182	99.40	68.15	2454
HSA-MIR-32-3P	99.36	68.20	2517
HSA-MIR-374A-3P	98.87	67.82	1531

Literature-anchored findings (GeneRIF, showing 13)

• p18 is a haploinsufficient tumor suppressor and a key factor for ATM/ATR-mediated p53 activation. (PMID:15680327)
• analysis of the three-dimensional structure and residues of the novel tumor suppressor AIMP3/p18 required for the interaction with (PMID:18343821)
• No EEF1E1 mutations were detected in human cancer specimens. (PMID:19024604)
• Decreased expression of AIMP3 in gastric and colorectal cancer tissues suggests that down-regulation of this protein may be related to inactivation of the tumor suppressor functions of AIMP proteins and might play a role in the development of GC and CRC. (PMID:21789020)
• Data show that aminoacyl-tRNA synthetase-interacting multifunctional protein-3 (AIMP3)/p18 is released from aminoacyl-tRNA synthetase-interacting multifunctional protein-3 (AIMP3) by UV irradiation-induced stress. (PMID:22106287)
• AIMP3 is a critical mediator of Met-tRNA(i)(Met) transfer from methionyl-tRNA synthetase to eIF2 complex for the accurate and efficient translation initiation (PMID:22867704)
• AIMP3 stabilizes and protects methionyl-tRNA synthetase and eIF2gamma through the binding interactions. (PMID:23306449)
• Identification of EEf1E1 and OBFC2B as novel BRCA1-partner genes in the DNA double-strand break repair pathway. (PMID:24104880)
• AIMP3 was shown to be involved in the cellular aging of human mesenchymal stem cells. (PMID:25465621)
• analysis of the heterotetrameric complex structure of the glutathione transferase (GST) domains shared among the four MSC components, methionyl-tRNA synthetase (MRS), glutaminyl-prolyl-tRNA synthetase (EPRS), AIMP2 and AIMP3 (PMID:26472928)
• LmnA binds AIMP3 via its extreme C-terminus. Together these findings provide a structural insight for understanding the interaction between AIMP3 and LmnA in AIMP3 degradation. (PMID:28797100)
• The AIMP3 enhanced mitochondrial respiration and suppressed autophagic activity, indicating that the AIMP3-associated modulation of metabolism and autophagy is a key mechanism in the senescence of stem cells and further suggesting a novel target for interventions against aging. (PMID:30706629)
• AIMP3 inhibits cell growth and metastasis of lung adenocarcinoma through activating a miR-96-5p-AIMP3-p53 axis. (PMID:33538115)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	eef1e1	ENSDARG00000071774
mus_musculus	Eef1e1	ENSMUSG00000001707
rattus_norvegicus	Eef1e1	ENSRNOG00000066344

Protein

Protein identifiers

Eukaryotic translation elongation factor 1 epsilon-1 — O43324 (reviewed: O43324)

Alternative names: Aminoacyl tRNA synthetase complex-interacting multifunctional protein 3, Elongation factor p18, Multisynthase complex auxiliary component p18

All UniProt accessions (5): D6RBD7, D6RCQ0, O43324, H0YAH9, H0YAL7

UniProt curated annotations — full annotation on UniProt →

Function. Positive modulator of ATM response to DNA damage.

Subunit / interactions. Part of a multisubunit complex that groups tRNA ligases for Arg (RARS1), Asp (DARS1), Gln (QARS1), Ile (IARS1), Leu (LARS1), Lys (KARS1), Met (MARS1) the bifunctional ligase for Glu and Pro (EPRS1) and the auxiliary subunits AIMP1/p43, AIMP2/p38 and EEF1E1/p18. Can interact simultaneously with MARS1 and EPRS1. Forms a linear complex that contains MARS1, EEF1E1, EPRS1 and AIMP2 that is at the core of the multisubunit complex. Interacts with ATM and ATR. The interaction with ATM, which takes place independently of TP53, is induced by DNA damage that may occur during genotoxic stress or cell growth. The interaction with ATR is enhanced by UV irradiation.

Subcellular location. Cytoplasm. Cytosol. Nucleus.

Tissue specificity. Down-regulated in various cancer tissues.

Induction. By DNA damaging agents such as UV, adriamycin, actinomycin-D and cisplatin.

Isoforms (2)

UniProt ID	Names	Canonical?
O43324-1	1	yes
O43324-2	2

RefSeq proteins (2): NP_001129122, NP_004271* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010987	Glutathione-S-Trfase_C-like	Domain
IPR036282	Glutathione-S-Trfase_C_sf	Homologous_superfamily
IPR042450	EEF1E1	Family
IPR053836	Arc1-like_N	Domain
IPR053837	AIMP3/p18_C	Domain

Pfam: PF21972

UniProt features (30 total): helix 9, strand 5, mutagenesis site 3, turn 3, region of interest 3, modified residue 2, initiator methionine 1, chain 1, domain 1, coiled-coil region 1, splice variant 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
4BVX	X-RAY DIFFRACTION	1.6
4BL7	X-RAY DIFFRACTION	1.89
4BVY	X-RAY DIFFRACTION	1.99
2UZ8	X-RAY DIFFRACTION	2
5BMU	X-RAY DIFFRACTION	2.6
5Y6L	X-RAY DIFFRACTION	2.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43324-F1	92.44	0.81

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 2, 138

Mutagenesis-validated functional residues (3):

Position	Phenotype
69	disrupts interaction with mars1.
73	disrupts interaction with mars1.
144	disrupts interaction with eprs1.

Function

Pathways and Gene Ontology

Reactome pathways

10 pathways

ID	Pathway
R-HSA-2408522	Selenoamino acid metabolism
R-HSA-379716	Cytosolic tRNA aminoacylation
R-HSA-9856649	Transcriptional and post-translational regulation of MITF-M expression and activity
R-HSA-1266738	Developmental Biology
R-HSA-1430728	Metabolism
R-HSA-379724	tRNA Aminoacylation
R-HSA-392499	Metabolism of proteins
R-HSA-71291	Metabolism of amino acids and derivatives
R-HSA-72766	Translation
R-HSA-9730414	MITF-M-regulated melanocyte development

MSigDB gene sets: 244 (showing top): ELVIDGE_HYPOXIA_DN, MODULE_52, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_POSITIVE_REGULATION_OF_DNA_DAMAGE_RESPONSE_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR, GOBP_AMINO_ACID_ACTIVATION, BASSO_B_LYMPHOCYTE_NETWORK, GOBP_RESPONSE_TO_PEPTIDE, chr6p24, GOBP_TRNA_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, MODULE_16, GOBP_CELLULAR_SENESCENCE, USF_C, GOBP_REGULATION_OF_DNA_DAMAGE_RESPONSE_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR

GO Biological Process (7): translation (GO:0006412), negative regulation of cell population proliferation (GO:0008285), positive regulation of apoptotic process (GO:0043065), positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517), cellular response to leukemia inhibitory factor (GO:1990830), positive regulation of cellular senescence (GO:2000774), positive regulation of apoptotic signaling pathway (GO:2001235)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (7): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), cytosol (GO:0005829), aminoacyl-tRNA synthetase multienzyme complex (GO:0017101), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
Metabolism of amino acids and derivatives	1
tRNA Aminoacylation	1
MITF-M-regulated melanocyte development	1
Translation	1
Metabolism	1
Metabolism of proteins	1
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
nuclear lumen	2
peptidyltransferase activity	1
translational initiation	1
translational elongation	1
translational termination	1
macromolecule biosynthetic process	1
protein metabolic process	1
protein biosynthetic process	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
apoptotic process	1
regulation of apoptotic process	1
positive regulation of programmed cell death	1
DNA damage response, signal transduction by p53 class mediator	1
regulation of DNA damage response, signal transduction by p53 class mediator	1
positive regulation of signal transduction by p53 class mediator	1
cellular response to cytokine stimulus	1
response to leukemia inhibitory factor	1
positive regulation of cellular process	1
cellular senescence	1
regulation of cellular senescence	1
positive regulation of signal transduction	1
positive regulation of apoptotic process	1
apoptotic signaling pathway	1
regulation of apoptotic signaling pathway	1
binding	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1
intracellular anatomical structure	1
cytoplasm	1
intracellular protein-containing complex	1
catalytic complex	1

Protein interactions and networks

STRING

3308 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EEF1E1	AIMP2	Q13155	993
EEF1E1	MARS1	P56192	981
EEF1E1	AIMP1	Q12904	972
EEF1E1	MARS2	Q96GW9	966
EEF1E1	EPRS1	P07814	864
EEF1E1	LARS1	Q9P2J5	841
EEF1E1	ATM	Q13315	838
EEF1E1	LARS2	Q15031	830
EEF1E1	IARS1	P41252	770
EEF1E1	KARS1	Q15046	769
EEF1E1	QARS1	P47897	744
EEF1E1	AARS1	P49588	742
EEF1E1	IARS2	Q9NSE4	733
EEF1E1	RARS2	Q5T160	733
EEF1E1	RARS1	P54136	668

IntAct

105 interactions, top by confidence:

A	B	Type	Score
MED4	MED19	psi-mi:“MI:0914”(association)	0.900
NAT9	EEF1E1	psi-mi:“MI:0915”(physical association)	0.670
EEF1E1	NAT9	psi-mi:“MI:0915”(physical association)	0.670
PDGFRB	PIK3R2	psi-mi:“MI:0914”(association)	0.610
EEF1E1	CALCOCO2	psi-mi:“MI:0915”(physical association)	0.560
CALCOCO2	EEF1E1	psi-mi:“MI:0915”(physical association)	0.560
gag	EEF1E1	psi-mi:“MI:0914”(association)	0.560
gag	EEF1E1	psi-mi:“MI:0915”(physical association)	0.560
RAF1	EEF1E1	psi-mi:“MI:0914”(association)	0.530
QARS1	EEF1E1	psi-mi:“MI:0914”(association)	0.530
SDCBP	TARS3	psi-mi:“MI:0914”(association)	0.530
gag	SDCBP	psi-mi:“MI:0914”(association)	0.460
MARS1	EEF1E1	psi-mi:“MI:0915”(physical association)	0.370
BLK	EEF1E1	psi-mi:“MI:0914”(association)	0.350
Atp7a	RTL8C	psi-mi:“MI:0914”(association)	0.350
Dlgap4	TYK2	psi-mi:“MI:0914”(association)	0.350
CHAMP1	GTPBP1	psi-mi:“MI:0914”(association)	0.350
PKN2	TMUB1	psi-mi:“MI:0914”(association)	0.350
Sdccag8	EEF1E1	psi-mi:“MI:0914”(association)	0.350
STRN	STK24	psi-mi:“MI:0914”(association)	0.350
Junb	RGPD3	psi-mi:“MI:0914”(association)	0.350
JUN	TPM3	psi-mi:“MI:0914”(association)	0.350
COX15	SNRPGP15	psi-mi:“MI:0914”(association)	0.350
DLD	NFKBIE	psi-mi:“MI:0914”(association)	0.350

BioGRID (193): EEF1E1 (Affinity Capture-MS), CALCOCO2 (Two-hybrid), NAT9 (Two-hybrid), EEF1E1 (Affinity Capture-MS), EEF1E1 (Affinity Capture-MS), AIMP1 (Co-fractionation), EEF1E1 (Co-fractionation), EEF1E1 (Co-fractionation), EEF1E1 (Co-fractionation), EEF1E1 (Co-fractionation), EEF1E1 (Co-fractionation), EEF1E1 (Co-fractionation), EEF1E1 (Co-fractionation), EEF1E1 (Co-fractionation), EEF1E1 (Co-fractionation)

ESM2 similar proteins: A4FUF0, A5HK05, B0K012, O43324, O43929, O75431, O94955, O95453, P20135, P42694, P47802, P69341, P70102, P78417, Q2L969, Q3U2J5, Q3UFS0, Q49A26, Q4R8V9, Q562D5, Q5R6Z7, Q5R7T2, Q5RC51, Q5RDU9, Q5RKH0, Q5ZIA0, Q5ZLS2, Q5ZLS7, Q6AXV9, Q6DC64, Q6DFV5, Q6GR37, Q6NYU2, Q7SXV1, Q7Z624, Q8IX04, Q8K2D3, Q8K2Q2, Q8R5L3, Q8VE33

Diamond homologs: O43324, P70102, Q9D1M4, Q54KB8

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
EEF1E1	“form complex”	“Multiaminoacyl-tRNA synthetase”	binding
UBE3A	“down-regulates quantity”	EEF1E1	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 107 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Cytosolic tRNA aminoacylation	7	42.7×	1e-07
tRNA Aminoacylation	7	27.8×	1e-06
Downstream signal transduction	5	26.4×	7e-05
Selenoamino acid metabolism	7	19.1×	1e-05
Transcriptional and post-translational regulation of MITF-M expression and activity	7	17.4×	2e-05
Regulation of RAS by GAPs	5	13.4×	8e-04
MITF-M-regulated melanocyte development	7	11.1×	1e-04
Signaling by ALK fusions and activated point mutants	5	10.4×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
tRNA aminoacylation for protein translation	5	46.8×	5e-05
MAPK cascade	6	10.2×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

15 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	13
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

929 predictions. Top by Δscore:

Variant	Effect	Δscore
6:8090178:ATACT:A	donor_loss	1.0000
6:8090179:TAC:T	donor_loss	1.0000
6:8090180:ACTC:A	donor_loss	1.0000
6:8090181:CTC:C	donor_loss	1.0000
6:8090182:TCAC:T	donor_loss	1.0000
6:8090182:TCACT:T	donor_loss	1.0000
6:8090183:CA:C	donor_loss	1.0000
6:8090184:A:AC	donor_gain	1.0000
6:8090184:A:T	donor_loss	1.0000
6:8090185:C:CA	donor_gain	1.0000
6:8090280:TC:T	acceptor_gain	1.0000
6:8090281:CC:C	acceptor_gain	1.0000
6:8097369:C:CA	donor_gain	1.0000
6:8097370:C:A	donor_gain	1.0000
6:8097468:C:CC	acceptor_gain	1.0000
6:8097469:T:C	acceptor_gain	1.0000
6:8097469:T:TC	acceptor_gain	1.0000
6:8102471:A:AC	donor_gain	1.0000
6:8102472:C:CC	donor_gain	1.0000
6:8102475:AGT:A	donor_gain	1.0000
6:8102475:AGTC:A	donor_gain	1.0000
6:8090177:AATAC:A	donor_loss	0.9900
6:8090185:CT:C	donor_gain	0.9900
6:8090185:CTAT:C	donor_gain	0.9900
6:8090185:CTATA:C	donor_gain	0.9900
6:8090277:AGATC:A	acceptor_gain	0.9900
6:8090278:GATC:G	acceptor_gain	0.9900
6:8090279:ATC:A	acceptor_gain	0.9900
6:8090279:ATCC:A	acceptor_loss	0.9900
6:8090280:TCCTA:T	acceptor_loss	0.9900

AlphaMissense

1130 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:8079982:A:G	W145R	0.998
6:8079982:A:T	W145R	0.998
6:8079984:C:G	R144P	0.996
6:8079985:G:T	R144S	0.996
6:8097335:A:G	W74R	0.995
6:8097335:A:T	W74R	0.995
6:8090277:A:G	L98P	0.992
6:8079980:C:A	W145C	0.991
6:8079980:C:G	W145C	0.991
6:8079985:G:C	R144G	0.991
6:8097350:C:G	A69P	0.990
6:8090221:C:G	D117H	0.989
6:8090265:A:G	L102P	0.989
6:8079990:A:T	V142E	0.986
6:8079981:C:G	W145S	0.985
6:8090199:A:G	L124P	0.985
6:8090209:A:C	Y121D	0.985
6:8090220:T:A	D117V	0.985
6:8090220:T:G	D117A	0.985
6:8097413:C:G	A48P	0.985
6:8079965:C:A	Q150H	0.984
6:8079965:C:G	Q150H	0.984
6:8079977:A:C	F146L	0.984
6:8079977:A:T	F146L	0.984
6:8079979:A:G	F146L	0.984
6:8090223:G:T	A116E	0.984
6:8097403:A:G	L51P	0.984
6:8090273:A:C	N99K	0.982
6:8090273:A:T	N99K	0.982
6:8097343:A:T	V71D	0.982

dbSNP variants (sampled 300 via entrez): RS1000041649 (6:8087392 A>G), RS1000052198 (6:8073076 A>G), RS1000163159 (6:8079025 A>G), RS1000313789 (6:8093871 C>T), RS1000415200 (6:8102514 G>A,C,T), RS1000423812 (6:8096458 G>C,T), RS1000450323 (6:8099759 C>A), RS1000600950 (6:8084077 A>T), RS1000654559 (6:8082306 C>T), RS1000765268 (6:8077459 T>C), RS1000772385 (6:8076177 C>T), RS1000826554 (6:8076424 T>A,C,G), RS1000901941 (6:8101631 C>A,G,T), RS1000920592 (6:8095275 C>A,T), RS1001369912 (6:8094962 C>T)

Disease associations

OMIM: gene MIM:609206 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST002097_12	Coronary artery calcification	3.000000e-06
GCST009172_2	Response to (pegylated) interferon in HBeAg-negative hepatitis B	3.000000e-06
GCST010002_47	Refractive error	1.000000e-21

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004723	coronary artery calcification
EFO:0007859	response to interferon

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5724644 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.78	Kd	167.8	nM	CHEMBL3752910
6.78	ED50	167.8	nM	CHEMBL3752910
6.30	Kd	501.5	nM	CHEMBL5653589
6.30	ED50	501.5	nM	CHEMBL5653589

PubChem BioAssay actives

2 with measured affinity, of 10 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148287: Binding affinity to human EEF1E1 incubated for 45 mins by Kinobead based pull down assay	kd	0.1678	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148287: Binding affinity to human EEF1E1 incubated for 45 mins by Kinobead based pull down assay	kd	0.5015	uM

CTD chemical–gene interactions

42 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, decreases expression	3
Tetrachlorodibenzodioxin	decreases expression	2
Tretinoin	decreases expression	2
Valproic Acid	affects expression, decreases methylation	2
dicrotophos	decreases expression	1
decabromobiphenyl ether	increases expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
tetrabromobisphenol A	increases expression	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
tamibarotene	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
4-phenylbutyric acid	decreases expression	1
cylindrospermopsin	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	increases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	decreases expression, increases response to substance	1
LDN 193189	affects cotreatment, decreases expression	1
Temozolomide	increases expression	1
Arsenic Trioxide	affects binding, decreases reaction	1
Vorinostat	increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arecoline	decreases expression	1
Arsenic	increases methylation	1
Benzo(a)pyrene	affects methylation	1
Diethylstilbestrol	decreases expression	1
Dimethyl Sulfoxide	increases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1

ChEMBL screening assays

7 unique, capped per target: 7 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651329	Binding	Binding affinity to human EEF1E1 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B2WA	Abcam HEK293T EEF1E1 KO	Transformed cell line	Female

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.