EIF3K

Summary

EIF3K (eukaryotic translation initiation factor 3 subunit K, HGNC:24656) is a protein-coding gene on chromosome 19q13.2, encoding Eukaryotic translation initiation factor 3 subunit K (Q9UBQ5). Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis.

The 700-kD eukaryotic translation initiation factor-3 (eIF3) is the largest eIF and contains at least 12 subunits, including EIF2S12. eIF3 plays an essential role in translation by binding directly to the 40S ribosomal subunit and promoting formation of the 40S preinitiation complex (Mayeur et al., 2003 [PubMed 14519125]).

Source: NCBI Gene 27335 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 53 total
• Druggable target: yes
• MANE Select transcript: NM_013234

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24656
Approved symbol	EIF3K
Name	eukaryotic translation initiation factor 3 subunit K
Location	19q13.2
Locus type	gene with protein product
Status	Approved
Aliases	PRO1474, HSPC029, PTD001, PLAC-24, M9, ARG134
Ensembl gene	ENSG00000178982
Ensembl biotype	protein_coding
OMIM	609596
Entrez	27335

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 16 protein_coding, 4 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000248342, ENST00000538434, ENST00000545173, ENST00000586513, ENST00000586932, ENST00000588299, ENST00000588422, ENST00000588934, ENST00000590134, ENST00000591409, ENST00000592558, ENST00000593062, ENST00000593149, ENST00000614624, ENST00000892760, ENST00000892761, ENST00000914932, ENST00000914933, ENST00000914934, ENST00000914935, ENST00000914936, ENST00000914937

RefSeq mRNA: 3 — MANE Select: NM_013234 NM_001300992, NM_001308393, NM_013234

CCDS: CCDS12517, CCDS74360, CCDS77293

Canonical transcript exons

ENST00000248342 — 8 exons

Exon	Start	End
ENSE00000951793	38632430	38632496
ENSE00001235237	38619188	38619327
ENSE00003475497	38626028	38626102
ENSE00003545260	38624077	38624197
ENSE00003561689	38634993	38635118
ENSE00003565834	38632601	38632678
ENSE00003617349	38620337	38620435
ENSE00003890843	38636889	38636954

Expression profiles

Bgee: expression breadth ubiquitous, 227 present calls, max score 99.52.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 185.8713 / max 1039.4363, expressed in 1826 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
175642	165.0001	1826
175643	17.9347	1807
175641	2.9198	1222
175644	0.0167	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	99.52	gold quality
granulocyte	CL:0000094	99.39	gold quality
right atrium auricular region	UBERON:0006631	99.39	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.38	gold quality
mucosa of transverse colon	UBERON:0004991	99.31	gold quality
muscle layer of sigmoid colon	UBERON:0035805	99.29	gold quality
rectum	UBERON:0001052	99.27	gold quality
body of stomach	UBERON:0001161	99.24	gold quality
skin of abdomen	UBERON:0001416	99.23	gold quality
transverse colon	UBERON:0001157	99.22	gold quality
monocyte	CL:0000576	99.21	gold quality
body of pancreas	UBERON:0001150	99.18	gold quality
skin of leg	UBERON:0001511	99.18	gold quality
lower esophagus	UBERON:0013473	99.17	gold quality
lower esophagus muscularis layer	UBERON:0035833	99.17	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	99.16	gold quality
metanephros cortex	UBERON:0010533	99.15	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	99.13	gold quality
left ovary	UBERON:0002119	99.11	gold quality
endocervix	UBERON:0000458	99.09	gold quality
small intestine Peyer’s patch	UBERON:0003454	99.07	gold quality
ectocervix	UBERON:0012249	99.07	gold quality
right lobe of thyroid gland	UBERON:0001119	99.05	gold quality
body of uterus	UBERON:0009853	99.05	gold quality
mucosa of stomach	UBERON:0001199	99.03	gold quality
right ovary	UBERON:0002118	99.03	gold quality
adenohypophysis	UBERON:0002196	99.01	gold quality
left lobe of thyroid gland	UBERON:0001120	98.99	gold quality
left uterine tube	UBERON:0001303	98.97	gold quality
minor salivary gland	UBERON:0001830	98.97	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-6819	yes	513.03
E-MTAB-7606	no	898.27
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): BARX2, BHLHA15, CTNNBL1, ELF4, ELK1, EZH2, FOS, FOXK1, FOXO1, FOXQ1, GATA2, GATA4, GATA6, GLI3, HAND1, HOXB8, HR, ID1, ID3, KAT5, KLF3, MEF2A, MEF2C, MEF2D, MYB, MYF5, MYF6, MYOD1, MYOG, MYRF, NFATC1, NR1I2, NR2C1, PAX7, PRDM16, PRDM1, SIX4, SMAD3, SMARCA1, SOX9

Literature-anchored findings (GeneRIF, showing 6)

• identification of a novel 24-kDa protein that binds directly to dynein intermediate chain [PLAC-24] (PMID:12006665)
• eIF3k has three putative protein-binding surfaces and has potential RNA binding activity (PMID:15180986)
• cyclin D3 specifically interacted with eIF3k through its C-terminal domain; eIF3k distributed both in nucleus and cytoplasm and colocalized with cyclin D3 (PMID:15327989)
• eIF3k, originally identified as the smallest subunit of eukaryotic translation initiation factor 3 (eIF3) complexes, also localizes to keratin intermediate filaments and physically associates with K18 in epithelial cells. (PMID:18577580)
• eIF3K subunit interacts directly with the PML protein. (PMID:24036361)
• Whereas the eIF3c knockdown reduces it, downregulation of eIF3k or eIF3l increases mRNA recruitment, suggesting that the latter subunits possess a regulatory potential. Altogether this study provides new insights into the role of human eIF3 in the initial assembly steps of the translational machinery (PMID:31863585)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	eif3k	ENSDARG00000068289
mus_musculus	Eif3k	ENSMUSG00000053565
rattus_norvegicus	Eif3k	ENSRNOG00000020495
drosophila_melanogaster	eIF3k	FBGN0034654
caenorhabditis_elegans		WBGENE00001233

Protein

Protein identifiers

Eukaryotic translation initiation factor 3 subunit K — Q9UBQ5 (reviewed: Q9UBQ5)

Alternative names: Eukaryotic translation initiation factor 3 subunit 12, Muscle-specific gene M9 protein, PLAC-24, eIF-3 p25, eIF-3 p28

All UniProt accessions (7): Q9UBQ5, A0A087WVB9, B4DQ48, K7EK53, K7EQM4, K7ERF1, K7ES31

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. Interacts with CCND3, but not with CCND1 and CCND2.

Subcellular location. Nucleus. Cytoplasm.

Tissue specificity. Ubiquitous, with the highest levels of expression in brain, testis and kidney.

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

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UBQ5-1	1	yes
Q9UBQ5-2	2

RefSeq proteins (3): NP_001287921, NP_001295322, NP_037366* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000717	PCI_dom	Domain
IPR009374	eIF3k	Family
IPR016020	Transl_init_fac_sub12_N_euk	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR033464	CSN8_PSD8_EIF3K	Domain
IPR036388	WH-like_DNA-bd_sf	Homologous_superfamily
IPR036390	WH_DNA-bd_sf	Homologous_superfamily

Pfam: PF10075

UniProt features (29 total): helix 17, modified residue 3, turn 2, strand 2, initiator methionine 1, chain 1, domain 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

29 structures.

PDB	Method	Resolution (Å)
1RZ4	X-RAY DIFFRACTION	2.1
8PPL	ELECTRON MICROSCOPY	2.65
6ZP4	ELECTRON MICROSCOPY	2.9
8PJ5	ELECTRON MICROSCOPY	2.9
8PJ6	ELECTRON MICROSCOPY	2.9
6ZON	ELECTRON MICROSCOPY	3
9KZU	ELECTRON MICROSCOPY	3
8PJ4	ELECTRON MICROSCOPY	3.2
9KN5	ELECTRON MICROSCOPY	3.2
9KRP	ELECTRON MICROSCOPY	3.2
6YBD	ELECTRON MICROSCOPY	3.3
9KKF	ELECTRON MICROSCOPY	3.3
9KN6	ELECTRON MICROSCOPY	3.3
9KZX	ELECTRON MICROSCOPY	3.3
8PJ1	ELECTRON MICROSCOPY	3.4
8PJ2	ELECTRON MICROSCOPY	3.4
8RG0	ELECTRON MICROSCOPY	3.4
7A09	ELECTRON MICROSCOPY	3.5
8OZ0	ELECTRON MICROSCOPY	3.5
8XXN	ELECTRON MICROSCOPY	3.6
6ZMW	ELECTRON MICROSCOPY	3.7
7QP7	ELECTRON MICROSCOPY	3.7
8PJ3	ELECTRON MICROSCOPY	3.7
6ZVJ	ELECTRON MICROSCOPY	3.8
9BLN	ELECTRON MICROSCOPY	3.9
7QP6	ELECTRON MICROSCOPY	4.7
6FEC	ELECTRON MICROSCOPY	6.3
3J8B	ELECTRON MICROSCOPY	9.3
3J8C	ELECTRON MICROSCOPY	11.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UBQ5-F1	87.31	0.57

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 (3): 2, 28, 217

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: 233 (showing top): GOBP_CYTOPLASMIC_TRANSLATION, E2F_Q4_01, TGCGCANK_UNKNOWN, MODULE_151, ENK_UV_RESPONSE_KERATINOCYTE_UP, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, MORF_UBE2I, MORF_HDAC1, GOBP_TRANSLATIONAL_INITIATION, GOCC_EUKARYOTIC_TRANSLATION_INITIATION_FACTOR_3_COMPLEX, GOMF_TRANSLATION_INITIATION_FACTOR_ACTIVITY, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GGAANCGGAANY_UNKNOWN, MORF_CTBP1

GO Biological Process (5): formation of cytoplasmic translation initiation complex (GO:0001732), translational initiation (GO:0006413), regulation of translational initiation (GO:0006446), cytoplasmic translational initiation (GO:0002183), translation (GO:0006412)

GO Molecular Function (4): RNA binding (GO:0003723), translation initiation factor activity (GO:0003743), ribosome binding (GO:0043022), protein binding (GO:0005515)

GO Cellular Component (8): nucleus (GO:0005634), cytosol (GO:0005829), eukaryotic translation initiation factor 3 complex (GO:0005852), membrane (GO:0016020), eukaryotic 43S preinitiation complex (GO:0016282), eukaryotic 48S preinitiation complex (GO:0033290), cytoplasm (GO:0005737), protein-containing complex (GO:0032991)

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	4
cellular anatomical structure	3
cytoplasm	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
regulation of translation	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
nucleic acid binding	1
translation factor activity	1
ribonucleoprotein complex binding	1
binding	1
intracellular membrane-bounded organelle	1
protein-containing complex	1
intracellular anatomical structure	1
cellular_component	1

Protein interactions and networks

STRING

1944 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EIF3K	EIF3F	O00303	942
EIF3K	EIF3L	Q9Y262	938
EIF3K	EIF3J	O75822	930
EIF3K	EIF3E	P60228	912
EIF3K	EIF3G	O75821	899
EIF3K	EIF3C	Q99613	887
EIF3K	EIF3I	Q13347	866
EIF3K	EIF3M	Q7L2H7	865
EIF3K	EIF3D	O15371	835
EIF3K	EIF3H	O15372	823
EIF3K	CCND3	P30281	817
EIF3K	EIF3B	P55884	732
EIF3K	TTPA	P49638	648
EIF3K	TBC1D10B	Q4KMP7	644
EIF3K	TBC1D10A	Q9BXI6	637

IntAct

222 interactions, top by confidence:

A	B	Type	Score
EIF3L	EIF3K	psi-mi:“MI:0915”(physical association)	0.960
EIF3K	EIF3L	psi-mi:“MI:0915”(physical association)	0.960
EIF3K	EIF3L	psi-mi:“MI:0407”(direct interaction)	0.960
EIF3L	EIF3K	psi-mi:“MI:0407”(direct interaction)	0.960
EIF3M	EIF3F	psi-mi:“MI:0914”(association)	0.960
EIF3B	EIF3F	psi-mi:“MI:0915”(physical association)	0.920
EIF3A	EIF3F	psi-mi:“MI:0915”(physical association)	0.910
EIF3A	EIF3F	psi-mi:“MI:0914”(association)	0.910
EIF3H	EIF3F	psi-mi:“MI:0914”(association)	0.890
EIF3F	EIF3H	psi-mi:“MI:0914”(association)	0.890
EIF3E	EIF3K	psi-mi:“MI:0915”(physical association)	0.880
EIF3L	EIF3E	psi-mi:“MI:0914”(association)	0.860
EIF3D	EIF3E	psi-mi:“MI:0915”(physical association)	0.850
EIF3C	EIF3E	psi-mi:“MI:0915”(physical association)	0.810
EIF3C	EIF3F	psi-mi:“MI:0915”(physical association)	0.800

BioGRID (306): EIF3L (Two-hybrid), EIF3K (Affinity Capture-MS), EIF3K (Affinity Capture-MS), EIF3K (Affinity Capture-MS), EIF3K (Affinity Capture-MS), EIF3K (Affinity Capture-MS), EIF3L (Two-hybrid), EIF3B (Co-fractionation), EIF3C (Co-fractionation), EIF3CL (Co-fractionation), EIF3D (Co-fractionation), EIF3K (Co-fractionation), EIF3K (Co-fractionation), EIF3K (Co-fractionation), EIF3K (Co-fractionation)

ESM2 similar proteins: B1H1Z8, B4ZIX8, B6V8E6, F1LSG8, O43913, O94826, P35222, P42232, P51692, P52632, P97834, Q02248, Q0VCJ8, Q0VCX4, Q13042, Q13098, Q3MHJ2, Q3T0V3, Q4R5H6, Q5F415, Q5RF08, Q5ZIL9, Q5ZMH6, Q6GR10, Q6NRT5, Q7SXR3, Q8BPU7, Q8CI71, Q8MJJ1, Q8R349, Q8R3S6, Q8VC42, Q91YQ7, Q92556, Q95115, Q96DM3, Q96G75, Q96JG6, Q99LD4, Q9CQC8

Diamond homologs: A1CK40, A1D7C4, A2R7B4, A6SDU6, A7F080, B0XEA7, B0XY69, B4JVG7, B4KTN5, B4LNQ8, B4MIW0, L7IAU0, P0CN54, P0CN55, P0CT07, Q0CXN3, Q0TXH0, Q177J8, Q1E6D3, Q28C65, Q2UQC6, Q3T0V3, Q4P4X6, Q4WXE9, Q567V6, Q5B8S5, Q6C830, Q6GNI4, Q7QGK4, Q7S2R9, Q94HF1, Q9DBZ5, Q9UBQ5, A7SGZ5, B3MIY7, B3NN00, B4G9X6, B4I7U3, B4P8V1, Q1HPS4

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
EIF3K	“form complex”	EIF3_complex	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 144 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	20	35.2×	9e-24
Formation of the ternary complex, and subsequently, the 43S complex	17	33.9×	3e-20
Translation initiation complex formation	19	33.5×	2e-22
GTP hydrolysis and joining of the 60S ribosomal subunit	23	21.3×	2e-22
L13a-mediated translational silencing of Ceruloplasmin expression	22	20.6×	3e-21
Formation of a pool of free 40S subunits	19	19.7×	7e-18
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	6	15.1×	1e-04
SRP-dependent cotranslational protein targeting to membrane	12	11.1×	6e-08

GO biological processes:

GO term	Partners	Fold	FDR
formation of cytoplasmic translation initiation complex	14	121.9×	2e-26
translational initiation	18	50.0×	5e-24
regulation of translational initiation	7	25.4×	2e-06
stress granule assembly	5	23.3×	2e-04
positive regulation of translation	9	15.9×	1e-06
cytoplasmic translation	11	15.8×	2e-08
negative regulation of translation	8	12.2×	4e-05
translation	8	6.4×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	35
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1626 predictions. Top by Δscore:

Variant	Effect	Δscore
19:38619287:A:G	donor_gain	1.0000
19:38619316:GG:G	donor_gain	1.0000
19:38619317:GG:G	donor_gain	1.0000
19:38619346:G:GT	donor_gain	1.0000
19:38620331:CTTTA:C	acceptor_loss	1.0000
19:38620332:TTTA:T	acceptor_loss	1.0000
19:38620333:TTAG:T	acceptor_loss	1.0000
19:38620334:TAG:T	acceptor_loss	1.0000
19:38620335:A:AG	acceptor_gain	1.0000
19:38620335:AG:A	acceptor_gain	1.0000
19:38620335:AGGT:A	acceptor_loss	1.0000
19:38620336:G:A	acceptor_loss	1.0000
19:38620336:G:GG	acceptor_gain	1.0000
19:38620336:GG:G	acceptor_gain	1.0000
19:38620336:GGT:G	acceptor_gain	1.0000
19:38620336:GGTA:G	acceptor_gain	1.0000
19:38620336:GGTAC:G	acceptor_gain	1.0000
19:38620431:AAGCT:A	donor_gain	1.0000
19:38620432:AGCT:A	donor_gain	1.0000
19:38620433:GCT:G	donor_gain	1.0000
19:38620433:GCTG:G	donor_gain	1.0000
19:38620434:CT:C	donor_gain	1.0000
19:38620434:CTG:C	donor_loss	1.0000
19:38620436:G:GG	donor_gain	1.0000
19:38620436:GT:G	donor_loss	1.0000
19:38624072:CTTA:C	acceptor_loss	1.0000
19:38624073:TTA:T	acceptor_loss	1.0000
19:38624074:TA:T	acceptor_loss	1.0000
19:38624075:A:AG	acceptor_gain	1.0000
19:38624076:G:GG	acceptor_gain	1.0000

AlphaMissense

1461 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:38620338:T:C	Y21H	1.000
19:38620363:T:C	L29P	1.000
19:38620418:C:A	N47K	1.000
19:38620418:C:G	N47K	1.000
19:38620420:T:C	L48P	1.000
19:38620423:C:A	A49D	1.000
19:38620426:T:A	V50D	1.000
19:38620429:T:A	L51Q	1.000
19:38620429:T:C	L51P	1.000
19:38620433:G:C	K52N	1.000
19:38620433:G:T	K52N	1.000
19:38620435:T:C	L53P	1.000
19:38624127:T:C	L70P	1.000
19:38624135:G:C	A73P	1.000
19:38624136:C:A	A73D	1.000
19:38624139:T:C	L74P	1.000
19:38624169:T:C	L84P	1.000
19:38624171:T:C	C85R	1.000
19:38624173:C:G	C85W	1.000
19:38626083:G:A	C112Y	1.000
19:38626084:C:G	C112W	1.000
19:38632488:T:A	V138D	1.000
19:38632491:G:C	R139P	1.000
19:38632496:T:C	F141L	1.000
19:38632602:T:A	F141L	1.000
19:38632602:T:G	F141L	1.000
19:38635028:T:A	W179R	1.000
19:38635028:T:C	W179R	1.000
19:38619312:T:A	L15H	0.999
19:38619312:T:C	L15P	0.999

dbSNP variants (sampled 300 via entrez): RS1000003524 (19:38637224 C>G,T), RS1000099980 (19:38631580 C>G), RS1000162305 (19:38629180 A>G), RS1000321438 (19:38634670 G>T), RS1000353442 (19:38621198 A>T), RS1000363288 (19:38627900 C>T), RS1000441498 (19:38634443 AC>A), RS1000501098 (19:38618233 C>A), RS1000655981 (19:38627455 G>A), RS1000757602 (19:38621204 A>G,T), RS1000788630 (19:38621556 C>G,T), RS1001043356 (19:38633146 A>T), RS1001505444 (19:38634193 T>C), RS1001694744 (19:38629011 T>G), RS1001723959 (19:38628773 G>A)

Disease associations

OMIM: gene MIM:609596 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010703_256	Brain morphology (MOSTest)	8.000000e-14

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066307 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.04	Kd	921.7	nM	CHEMBL5653589
6.04	ED50	921.7	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 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-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148142: Binding affinity to human EIF3K incubated for 45 mins by Kinobead based pull down assay	kd	0.9217	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
FR900359	increases phosphorylation	1
bisphenol F	increases expression	1
TAK-243	increases sumoylation	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
sodium arsenate	decreases expression	1
decabromobiphenyl ether	decreases expression	1
arsenite	affects binding, increases reaction	1
sodium arsenite	decreases expression	1
coumarin	decreases phosphorylation	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
chloropicrin	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
pyrimidifen	increases expression	1
abrine	decreases expression	1
2-amino-14,16-dimethyloctadecan-3-ol	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
bisphenol S	increases expression	1
LDN 193189	affects cotreatment, decreases expression	1
picoxystrobin	increases expression	1
bisphenol AF	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Cadmium	increases abundance, increases expression	1
Caffeine	increases phosphorylation	1
Diazinon	increases methylation	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
CHEMBL5651184	Binding	Binding affinity to human EIF3K 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_B2WF	Abcam HEK293T EIF3K KO	Transformed cell line	Female

Clinical trials (associated diseases)

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