EIF3J

Summary

EIF3J (eukaryotic translation initiation factor 3 subunit J, HGNC:3270) is a protein-coding gene on chromosome 15q21.1, encoding Eukaryotic translation initiation factor 3 subunit J (O75822). Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. It is a selective cancer dependency (DepMap: 72.1% of cell lines).

This gene encodes a core subunit of the eukaryotic initiation factor 3 complex, which participates in the initiation of translation by aiding in the recruitment of protein and mRNA components to the 40S ribosome. There are pseudogenes for this gene on chromosomes 1, 3, and 9. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 8669 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 26 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 72.1% of screened cell lines
• MANE Select transcript: NM_003758

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3270
Approved symbol	EIF3J
Name	eukaryotic translation initiation factor 3 subunit J
Location	15q21.1
Locus type	gene with protein product
Status	Approved
Aliases	eIF3-p35, eIF3-alpha
Ensembl gene	ENSG00000104131
Ensembl biotype	protein_coding
OMIM	603910
Entrez	8669

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 5 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000261868, ENST00000424492, ENST00000535391, ENST00000536248, ENST00000558053, ENST00000558227, ENST00000558353, ENST00000863133

RefSeq mRNA: 3 — MANE Select: NM_003758 NM_001284335, NM_001284336, NM_003758

CCDS: CCDS10111, CCDS61612, CCDS61613

Canonical transcript exons

ENST00000261868 — 8 exons

Exon	Start	End
ENSE00000684619	44557489	44557650
ENSE00000684622	44560249	44560322
ENSE00000884378	44550876	44550930
ENSE00000931224	44537324	44537427
ENSE00001183277	44561018	44562803
ENSE00001374814	44537147	44537237
ENSE00003555791	44554553	44554667
ENSE00003566207	44551431	44551522

Expression profiles

Bgee: expression breadth ubiquitous, 296 present calls, max score 97.64.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 174.6884 / max 2019.8673, expressed in 1828 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
146375	125.3410	1828
146374	49.3474	1819

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gastrocnemius	UBERON:0001388	97.64	gold quality
biceps brachii	UBERON:0001507	97.34	gold quality
body of pancreas	UBERON:0001150	97.33	gold quality
muscle of leg	UBERON:0001383	97.27	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.19	gold quality
cortical plate	UBERON:0005343	97.17	gold quality
sural nerve	UBERON:0015488	97.09	gold quality
colonic epithelium	UBERON:0000397	97.04	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	96.97	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	96.45	gold quality
ganglionic eminence	UBERON:0004023	96.23	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	96.22	gold quality
pancreas	UBERON:0001264	96.14	gold quality
ventricular zone	UBERON:0003053	95.91	gold quality
adrenal tissue	UBERON:0018303	95.54	gold quality
muscle organ	UBERON:0001630	95.44	gold quality
skeletal muscle organ	UBERON:0014892	95.44	gold quality
islet of Langerhans	UBERON:0000006	95.37	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	95.33	gold quality
esophagus mucosa	UBERON:0002469	95.23	gold quality
tonsil	UBERON:0002372	95.20	gold quality
body of tongue	UBERON:0011876	95.12	gold quality
gluteal muscle	UBERON:0002000	95.10	gold quality
rectum	UBERON:0001052	95.07	gold quality
monocyte	CL:0000576	94.84	gold quality
parotid gland	UBERON:0001831	94.83	gold quality
esophagus	UBERON:0001043	94.76	gold quality
mononuclear cell	CL:0000842	94.59	gold quality
spinal cord	UBERON:0002240	94.50	gold quality
leukocyte	CL:0000738	94.47	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-97	yes	313.09
E-HCAD-13	no	2.79
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

144 targeting EIF3J, 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-5692A	100.00	74.40	6850
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-3686	99.90	70.53	2432

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 72.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 8)

• structural analysis of the eIF3b RNA recognition motif and its interaction with eIF3j (PMID:17190833)
• a conserved tryptophan residue in the human eIF3j N-terminal acidic motif (NTA) is held in the helix alpha1 and loop 5 hydrophobic pocket of the human eIF3b RNA recognition motif (RRM) (PMID:20060839)
• Beta-Arrestin 2 modulates binding of eIF-3-alpha to selected components of the extracellular signal-regulated kinase pathway. (PMID:22025682)
• whether eIF3alpha polymorphism is associated with severe platinum toxicity in patients with non-small cell lung cancer (NSCLC). (PMID:22804784)
• eIF1, eIF1A, eIF3j, and the eIF2-GTP-Met-tRNAi ternary complex stably bind to the 43 S preinitiation complex (PMID:25246524)
• CK2-phosphorylation of eIF3j at Ser127 promotes the assembly of the eIF3 complex, a crucial step in the activation of the translation initiation machinery. (PMID:25887626)
• eIF3j facilitates loading of release factors into the ribosome. (PMID:34591963)
• eIF3a sustains non-small cell lung cancer stem cell-like properties by promoting YY1-mediated transcriptional activation of beta-catenin. (PMID:37211173)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	eif3ja	ENSDARG00000012603
danio_rerio	eif3jb	ENSDARG00000053370
mus_musculus	Eif3j1	ENSMUSG00000027236
mus_musculus	Eif3j2	ENSMUSG00000043424
rattus_norvegicus	Eif3j	ENSRNOG00000016459
drosophila_melanogaster	eIF3j	FBGN0027619
caenorhabditis_elegans	eif-3.J	WBGENE00012738

Protein

Protein identifiers

Eukaryotic translation initiation factor 3 subunit J — O75822 (reviewed: O75822)

Alternative names: Eukaryotic translation initiation factor 3 subunit 1, eIF-3-alpha, eIF3 p35

All UniProt accessions (3): O75822, H0YGJ7, H0YLP3

UniProt curated annotations — full annotation on UniProt →

Function. Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation. The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression.

Subunit / interactions. Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is composed of 13 subunits: EIF3A, EIF3B, EIF3C, EIF3D, EIF3E, EIF3F, EIF3G, EIF3H, EIF3I, EIF3J, EIF3K, EIF3L and EIF3M. The eIF-3 complex appears to include 3 stable modules: module A is composed of EIF3A, EIF3B, EIF3G and EIF3I; module B is composed of EIF3F, EIF3H, and EIF3M; and module C is composed of EIF3C, EIF3D, EIF3E, EIF3K and EIF3L. EIF3C of module C binds EIF3B of module A and EIF3H of module B, thereby linking the three modules. EIF3J is a labile subunit that binds to the eIF-3 complex via EIF3B. The eIF-3 complex interacts with RPS6KB1 under conditions of nutrient depletion. Mitogenic stimulation leads to binding and activation of a complex composed of MTOR and RPTOR, leading to phosphorylation and release of RPS6KB1 and binding of EIF4B to eIF-3.

Subcellular location. Cytoplasm.

Post-translational modifications. Phosphorylated. Phosphorylation is enhanced upon serum stimulation.

Similarity. Belongs to the eIF-3 subunit J family.

Isoforms (3)

UniProt ID	Names	Canonical?
O75822-1	1	yes
O75822-2	2
O75822-3	3

RefSeq proteins (3): NP_001271264, NP_001271265, NP_003749* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013906	eIF3j	Family
IPR023194	eIF3-like_dom_sf	Homologous_superfamily

Pfam: PF08597

UniProt features (31 total): modified residue 7, helix 7, region of interest 4, compositionally biased region 3, splice variant 2, initiator methionine 1, chain 1, cross-link 1, sequence variant 1, sequence conflict 1, turn 1, strand 1, coiled-coil region 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
3BPJ	X-RAY DIFFRACTION	1.85
6YBW	ELECTRON MICROSCOPY	3.1
6ZMW	ELECTRON MICROSCOPY	3.7
6ZVJ	ELECTRON MICROSCOPY	3.8
2KRB	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75822-F1	69.43	0.32

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 (8): 2, 11, 13, 20, 109, 127, 254, 106

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-156827	L13a-mediated translational silencing of Ceruloplasmin expression
R-HSA-72649	Translation initiation complex formation
R-HSA-72689	Formation of a pool of free 40S subunits
R-HSA-72695	Formation of the ternary complex, and subsequently, the 43S complex
R-HSA-72702	Ribosomal scanning and start codon recognition
R-HSA-72706	GTP hydrolysis and joining of the 60S ribosomal subunit

MSigDB gene sets: 247 (showing top): GOBP_CYTOPLASMIC_TRANSLATION, RNGTGGGC_UNKNOWN, AP1_01, TAATAAT_MIR126, GOBP_TRANSLATIONAL_INITIATION, GOCC_EUKARYOTIC_TRANSLATION_INITIATION_FACTOR_3_COMPLEX, TACAATC_MIR508, GOMF_TRANSLATION_INITIATION_FACTOR_ACTIVITY, USF_C, CHANDRAN_METASTASIS_DN, ATGTTAA_MIR302C, GOBP_TRANSLATION, MODULE_331, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_CYTOPLASMIC_TRANSLATIONAL_INITIATION

GO Biological Process (4): formation of cytoplasmic translation initiation complex (GO:0001732), translational initiation (GO:0006413), cytoplasmic translational initiation (GO:0002183), translation (GO:0006412)

GO Molecular Function (3): translation initiation factor activity (GO:0003743), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (5): cytosol (GO:0005829), eukaryotic translation initiation factor 3 complex (GO:0005852), eukaryotic 43S preinitiation complex (GO:0016282), eukaryotic 48S preinitiation complex (GO:0033290), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Cap-dependent Translation Initiation	4
Eukaryotic Translation Initiation	1
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
translational initiation	3
cytoplasm	2
cellular anatomical structure	2
cytosolic small ribosomal subunit	2
cytosolic translation preinitiation complex	2
cytoplasmic translational initiation	1
protein-RNA complex assembly	1
formation of translation initiation ternary complex	1
translation	1
metabolic process	1
cytoplasmic translation	1
peptidyltransferase activity	1
translational elongation	1
translational termination	1
macromolecule biosynthetic process	1
protein metabolic process	1
protein biosynthetic process	1
translation factor activity	1
protein binding	1
binding	1
protein-containing complex	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1871 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EIF3J	EIF3B	P55884	998
EIF3J	EIF3G	O75821	993
EIF3J	EIF3C	Q99613	973
EIF3J	EIF3I	Q13347	970
EIF3J	EIF3D	O15371	957
EIF3J	EIF5	P55010	930
EIF3J	EIF3K	Q9UBQ5	930
EIF3J	EIF3E	P60228	910
EIF3J	EIF3H	O15372	901
EIF3J	EIF3F	O00303	895
EIF3J	EIF1	P41567	890
EIF3J	EIF3M	Q7L2H7	826
EIF3J	EIF3L	Q9Y262	822
EIF3J	EIF4G1	Q04637	790
EIF3J	MRPL13	Q9BYD1	771

IntAct

157 interactions, top by confidence:

A	B	Type	Score
EIF3B	EIF3F	psi-mi:“MI:0914”(association)	0.920
EIF3A	EIF3F	psi-mi:“MI:0915”(physical association)	0.910
MED17	MED19	psi-mi:“MI:0914”(association)	0.840
CSNK2A1	EIF3J	psi-mi:“MI:0217”(phosphorylation reaction)	0.810
CSNK2A1	EIF3J	psi-mi:“MI:0914”(association)	0.810
CSNK2A2	EIF3J	psi-mi:“MI:0914”(association)	0.790
EIF3B	EIF3J	psi-mi:“MI:0915”(physical association)	0.710
EIF3J	EIF3B	psi-mi:“MI:0914”(association)	0.710
EIF3J	ABCE1	psi-mi:“MI:0915”(physical association)	0.670
CSNK2B	RPS6KA5	psi-mi:“MI:0914”(association)	0.660
CSNK2B	NMT2	psi-mi:“MI:0914”(association)	0.660
EIF3I	EIF3CL	psi-mi:“MI:0914”(association)	0.640
CSNK2B	RPS6KA4	psi-mi:“MI:0914”(association)	0.640
RHOD	PLXNB2	psi-mi:“MI:0914”(association)	0.640
NFE2L2	EIF3J	psi-mi:“MI:0915”(physical association)	0.630
EIF3J	EIF3J	psi-mi:“MI:0915”(physical association)	0.560
Eif3a	EIF3F	psi-mi:“MI:0915”(physical association)	0.560
MAPT	KIF2A	psi-mi:“MI:0914”(association)	0.530
CYP1A1	SNX3	psi-mi:“MI:0914”(association)	0.530

BioGRID (200): EIF3J (Affinity Capture-MS), EIF3J (Affinity Capture-MS), EIF3J (Affinity Capture-MS), EIF3J (Affinity Capture-MS), EIF3J (Affinity Capture-MS), HNRNPU (Co-fractionation), EIF3J (Affinity Capture-MS), EIF3J (Affinity Capture-Western), EIF3J (Affinity Capture-Western), EIF3J (Affinity Capture-MS), EIF3J (Affinity Capture-MS), EIF3J (Affinity Capture-MS), EIF3J (Affinity Capture-MS), EIF3J (Affinity Capture-MS), EIF3J (Affinity Capture-MS)

ESM2 similar proteins: A0JPM9, A2AQ19, O43395, O75391, O75822, P04973, P09496, P29084, P29540, Q02614, Q0VCU8, Q13123, Q15650, Q2HJ41, Q2KIA6, Q2KJF9, Q3MHJ0, Q3UGC7, Q5BK07, Q5I0B5, Q5NVI3, Q5R5F1, Q5R8D1, Q5RAD5, Q5RE03, Q5ZJ85, Q5ZJ97, Q5ZK25, Q5ZKA4, Q66HG8, Q66JS6, Q6GMH0, Q6INR1, Q6P320, Q7SXU0, Q7SYJ9, Q7TNE3, Q8BM39, Q91WE2, Q922U1

Diamond homologs: A0JPM9, A4QTA3, A7RSH7, B0WCZ5, B3MF39, B4GIF2, B4IMQ8, B4J4E7, B4KTH6, B4LN42, B4MP81, B4NX24, B4QHU5, O75822, Q0VCU8, Q0ZB73, Q16MK2, Q3UGC7, Q54KI0, Q5I0B5, Q5R8D1, Q5ZKA4, Q66JS6, Q6INR1, Q7K550, Q7Q566, Q7SXU0, Q803P1, Q8I1E5, Q8I1G8, A2RBC7, Q7S931, Q2UMC5, Q5B136, A1DM75, B0Y762, Q4WND3, Q75BP2

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
CSNK2A1	“up-regulates activity”	EIF3J	phosphorylation
EIF3J	“form complex”	EIF3_complex	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 153 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
Ribosomal scanning and start codon recognition	14	23.2×	4e-13
Formation of the ternary complex, and subsequently, the 43S complex	12	22.5×	3e-11
Translation initiation complex formation	13	21.5×	6e-12
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	6	14.2×	3e-04
Eukaryotic Translation Initiation	5	13.4×	1e-03
Cap-dependent Translation Initiation	5	13.4×	1e-03
SARS-CoV-1 modulates host translation machinery	5	13.4×	1e-03
GTP hydrolysis and joining of the 60S ribosomal subunit	15	13.1×	7e-11

GO biological processes:

GO term	Partners	Fold	FDR
formation of cytoplasmic translation initiation complex	9	71.7×	9e-13
translational initiation	12	30.5×	2e-12
regulation of translational initiation	7	23.2×	7e-06
negative regulation of proteasomal ubiquitin-dependent protein catabolic process	5	14.2×	5e-03
cytoplasmic translation	8	10.5×	3e-04
negative regulation of translation	6	8.3×	9e-03
response to ethanol	7	7.3×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	16
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1163 predictions. Top by Δscore:

Variant	Effect	Δscore
15:44537419:G:GT	donor_gain	1.0000
15:44550870:CTTTA:C	acceptor_loss	1.0000
15:44550871:TTTA:T	acceptor_loss	1.0000
15:44550872:TTAG:T	acceptor_loss	1.0000
15:44550873:TA:T	acceptor_loss	1.0000
15:44550874:A:AG	acceptor_gain	1.0000
15:44550874:AG:A	acceptor_gain	1.0000
15:44550874:AGGAT:A	acceptor_loss	1.0000
15:44550875:G:A	acceptor_gain	1.0000
15:44550875:G:GT	acceptor_gain	1.0000
15:44550931:G:C	donor_loss	1.0000
15:44550932:T:A	donor_loss	1.0000
15:44551429:A:AG	acceptor_gain	1.0000
15:44551430:G:GA	acceptor_gain	1.0000
15:44551430:GA:G	acceptor_gain	1.0000
15:44551430:GAGGT:G	acceptor_gain	1.0000
15:44551519:GAGG:G	donor_gain	1.0000
15:44551521:GG:G	donor_gain	1.0000
15:44551522:GG:G	donor_gain	1.0000
15:44551522:GGTA:G	donor_loss	1.0000
15:44551523:G:GA	donor_loss	1.0000
15:44551524:T:A	donor_loss	1.0000
15:44554540:T:TA	acceptor_gain	1.0000
15:44554546:A:AG	acceptor_gain	1.0000
15:44554548:TTTAG:T	acceptor_loss	1.0000
15:44554550:TAGTT:T	acceptor_loss	1.0000
15:44554551:A:AG	acceptor_gain	1.0000
15:44554551:A:T	acceptor_loss	1.0000
15:44554552:G:GC	acceptor_gain	1.0000
15:44554552:GT:G	acceptor_gain	1.0000

AlphaMissense

1698 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:44537397:G:C	W39C	1.000
15:44537397:G:T	W39C	1.000
15:44550882:T:A	W52R	1.000
15:44550882:T:C	W52R	1.000
15:44550884:G:C	W52C	1.000
15:44550884:G:T	W52C	1.000
15:44557528:C:A	P150Q	1.000
15:44557567:T:C	L163P	1.000
15:44537395:T:A	W39R	0.999
15:44537395:T:C	W39R	0.999
15:44554637:T:C	S127P	0.999
15:44554652:G:C	A132P	0.999
15:44557527:C:T	P150S	0.999
15:44557528:C:G	P150R	0.999
15:44557641:T:C	C188R	0.999
15:44560285:T:C	L203P	0.999
15:44560294:T:C	L206P	0.999
15:44554644:T:C	L129P	0.998
15:44557545:T:C	F156L	0.998
15:44557546:T:C	F156S	0.998
15:44557547:T:A	F156L	0.998
15:44557547:T:G	F156L	0.998
15:44557567:T:G	L163R	0.998
15:44557633:G:C	R185P	0.998
15:44557643:T:G	C188W	0.998
15:44560307:A:C	K210N	0.998
15:44560307:A:T	K210N	0.998
15:44561141:T:C	F257L	0.998
15:44561143:C:A	F257L	0.998
15:44561143:C:G	F257L	0.998

dbSNP variants (sampled 300 via entrez): RS1000007535 (15:44535298 A>C), RS1000094273 (15:44547940 G>A), RS1000148243 (15:44540571 C>T), RS1000226469 (15:44547039 T>A), RS1000236333 (15:44547295 C>CACCA), RS1000563569 (15:44545496 T>C), RS1000573426 (15:44545790 T>A,C), RS1000755356 (15:44558238 T>C), RS1000819835 (15:44559584 G>A,C), RS1000867488 (15:44540520 G>A,T), RS1000900450 (15:44558290 A>T), RS1001188934 (15:44556374 C>A,T), RS1001234973 (15:44556655 T>G), RS1001375301 (15:44562011 TGTTATG>T), RS1001453704 (15:44562409 C>T)

Disease associations

OMIM: gene MIM:603910 | disease phenotypes: MIM:604360

GenCC curated gene-disease

Mondo (1): hereditary spastic paraplegia 11 (MONDO:0011445)

Orphanet (1): Autosomal recessive spastic paraplegia type 11 (Orphanet:2822)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST007726_4	Anti-Toxoplasma gondii IgG seropositivity	5.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007047	Toxoplasma gondii seropositivity

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067002 (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
6.90	Kd	126.3	nM	CHEMBL3752910
6.90	ED50	126.3	nM	CHEMBL3752910
6.27	Kd	540.2	nM	CHEMBL5653589
6.27	ED50	540.2	nM	CHEMBL5653589

PubChem BioAssay actives

2 with measured affinity, of 4 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	2148143: Binding affinity to human EIF3J incubated for 45 mins by Kinobead based pull down assay	kd	0.1263	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148143: Binding affinity to human EIF3J incubated for 45 mins by Kinobead based pull down assay	kd	0.5403	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	increases expression	3
bisphenol A	affects expression, decreases expression	2
perfluorooctanoic acid	increases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
Valproic Acid	affects expression, increases expression	2
FR900359	affects phosphorylation	1
TAK-243	decreases sumoylation	1
triphenyl phosphate	affects expression	1
deoxynivalenol	increases expression	1
beta-lapachone	increases expression	1
sodium arsenite	decreases expression, increases activity	1
nivalenol	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
perfluorohexanesulfonic acid	decreases expression	1
nutlin 3	affects cotreatment, increases secretion	1
abrine	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
bisphenol AF	increases expression	1
Resveratrol	increases expression, affects cotreatment	1
Temozolomide	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Caffeine	affects phosphorylation	1
Cisplatin	affects cotreatment, decreases expression	1
Clozapine	increases expression	1
Dactinomycin	affects cotreatment, increases secretion	1
Estradiol	increases expression	1
Hydrogen Peroxide	affects expression	1
Ivermectin	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651185	Binding	Binding affinity to human EIF3J 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

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04712812	Not specified	RECRUITING	Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia