EIF1

Summary

EIF1 (eukaryotic translation initiation factor 1, HGNC:3249) is a protein-coding gene on chromosome 17q21.2, encoding Eukaryotic translation initiation factor 1 (P41567). Component of the 43S pre-initiation complex (43S PIC), which binds to the mRNA cap-proximal region, scans mRNA 5’-untranslated region, and locates the initiation codon. It is a common-essential gene (DepMap: required in 98.4% of cancer cell lines).

Enables ribosomal small subunit binding activity and translation initiation factor activity. Involved in regulation of translational initiation and translational initiation. Located in cytoplasm and nucleus. Part of eukaryotic 43S preinitiation complex; eukaryotic 48S preinitiation complex; and multi-eIF complex.

Source: NCBI Gene 10209 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 8 total
• Cancer dependency (DepMap): dependent in 98.4% of screened cell lines (common-essential)
• MANE Select transcript: NM_005801

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3249
Approved symbol	EIF1
Name	eukaryotic translation initiation factor 1
Location	17q21.2
Locus type	gene with protein product
Status	Approved
Aliases	EIF-1, ISO1, A121, SUI1, EIF1A
Ensembl gene	ENSG00000173812
Ensembl biotype	protein_coding
OMIM	619901
Entrez	10209

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 4 protein_coding, 2 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000310837, ENST00000462917, ENST00000469257, ENST00000469308, ENST00000482111, ENST00000586699, ENST00000591776, ENST00000940543

RefSeq mRNA: 1 — MANE Select: NM_005801 NM_005801

CCDS: CCDS11403

Canonical transcript exons

ENST00000469257 — 4 exons

Exon	Start	End
ENSE00001882669	41688885	41689069
ENSE00001952407	41690782	41692668
ENSE00003487276	41689778	41689941
ENSE00003575601	41690088	41690189

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 99.98.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 923.7734 / max 6484.3344, expressed in 1829 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
160863	923.7734	1829

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	99.98	gold quality
male germ cell	CL:0000015	99.97	gold quality
oocyte	CL:0000023	99.97	gold quality
adult organism	UBERON:0007023	99.95	gold quality
parotid gland	UBERON:0001831	99.94	gold quality
parietal pleura	UBERON:0002400	99.94	gold quality
pleura	UBERON:0000977	99.93	gold quality
cauda epididymis	UBERON:0004360	99.93	gold quality
lower lobe of lung	UBERON:0008949	99.93	gold quality
secondary oocyte	CL:0000655	99.92	gold quality
vena cava	UBERON:0004087	99.92	gold quality
superficial temporal artery	UBERON:0001614	99.91	gold quality
visceral pleura	UBERON:0002401	99.91	gold quality
caput epididymis	UBERON:0004358	99.91	gold quality
corpus epididymis	UBERON:0004359	99.91	gold quality
esophagus squamous epithelium	UBERON:0006920	99.91	gold quality
amniotic fluid	UBERON:0000173	99.89	gold quality
pericardium	UBERON:0002407	99.89	gold quality
mucosa of urinary bladder	UBERON:0001259	99.88	gold quality
trigeminal ganglion	UBERON:0001675	99.88	gold quality
palpebral conjunctiva	UBERON:0001812	99.88	gold quality
epithelium of esophagus	UBERON:0001976	99.88	gold quality
decidua	UBERON:0002450	99.88	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.88	gold quality
mucosa of sigmoid colon	UBERON:0004993	99.88	gold quality
jejunal mucosa	UBERON:0000399	99.87	gold quality
synovial joint	UBERON:0002217	99.87	gold quality
trabecular bone tissue	UBERON:0002483	99.87	gold quality
upper leg skin	UBERON:0004262	99.87	gold quality
mucosa of paranasal sinus	UBERON:0005030	99.87	gold quality

Single-cell (SCXA)

Detected in 41 experiment(s), a significant marker in 9.

Experiment	Marker?	Max mean expression
E-MTAB-6505	yes	19840.54
E-MTAB-10018	yes	17342.96
E-MTAB-7606	yes	5854.00
E-GEOD-93593	yes	3388.26
E-CURD-88	yes	42.53
E-MTAB-9543	yes	14.74
E-MTAB-10042	yes	10.53
E-HCAD-35	yes	9.84
E-GEOD-137537	yes	5.45
E-HCAD-4	no	6540.18
E-MTAB-11011	no	6421.41
E-MTAB-10662	no	5831.45
E-MTAB-9467	no	5760.40
E-GEOD-135922	no	5737.06
E-MTAB-10485	no	5734.78

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

62 targeting EIF1, 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-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-323A-3P	99.79	70.30	1739
HSA-MIR-548A-3P	99.76	70.58	3524

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 98.4% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 12)

• show that the stringency of start codon selection (preferential utilization of optimal start sites) is increased to a surprising degree by overexpressing eIF1 (PMID:20921384)
• This study provides mechanistic insight into the role of eIF5-carboxyl terminal domain’s dynamic interplay with eIF1 and eIF2beta. (PMID:22813744)
• Coordinated movements of eukaryotic translation initiation factors eIF1, eIF1A, and eIF5 trigger phosphate release from eIF2 in response to start codon recognition by the ribosomal preinitiation complex (PMID:23293029)
• eIF1, eIF1A, eIF3j, and the eIF2-GTP-Met-tRNAi ternary complex stably bind to the 43 S preinitiation complex (PMID:25246524)
• eEF4GI shares this activity and also interacts with eIF1. (PMID:25738462)
• eIF1A is a novel component of the Ago2-centred RNA-induced silencing complexes (RISCs) and augments Ago2-dependent RNAi and miRNA biogenesis. (PMID:26018492)
• Anti-Sui1 could be utilized as a supplementary serological marker. (PMID:26386724)
• We report that eIF4G1 exists in two complexes, either with eIF4E or with eIF1. Using an eIF1 mutant impaired in eIF4G1 binding, we demonstrate that eIF1-eIF4G1 interaction is important for leaky scanning and for avoiding m7G-cap-proximal initiation. (PMID:29987188)
• results indicate that in humans, eIF5B displacing eIF2 from Met-tRNAi upon subunit joining may be coupled to eIF1A displacing eIF5 from eIF5B, allowing the eIF5:eIF2-GDP complex to leave the ribosome. (PMID:30211544)
• These data directly implicate translational repression in C9orf72 repeat-induced neurodegeneration and identify eIF1A as a novel modifier of C9orf72 repeat toxicity. (PMID:30604225)
• Inhibitors of eIF4G1-eIF1 uncover its regulatory role of ER/UPR stress-response genes independent of eIF2alpha-phosphorylation. (PMID:35857873)
• Nuclear release of eIF1 restricts start-codon selection during mitosis. (PMID:39443796)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	eif1	ENSDARG00000012688
mus_musculus	Eif1	ENSMUSG00000035530
drosophila_melanogaster	eIF1	FBGN0035423

Paralogs (1): EIF1B (ENSG00000114784)

Protein

Protein identifiers

Eukaryotic translation initiation factor 1 — P41567 (reviewed: P41567)

Alternative names: A121, Protein translation factor SUI1 homolog, Sui1iso1

All UniProt accessions (4): P41567, K7EM18, K7EQP2, Q6IAV3

UniProt curated annotations — full annotation on UniProt →

Function. Component of the 43S pre-initiation complex (43S PIC), which binds to the mRNA cap-proximal region, scans mRNA 5’-untranslated region, and locates the initiation codon. Together with eIF1A (EIF1AX), EIF1 facilitates scanning and is essential for start codon recognition on the basis of AUG nucleotide context and location relative to the 5’-cap. Participates to initiation codon selection by influencing the conformation of the 40S ribosomal subunit and the positions of bound mRNA and initiator tRNA; this is possible after its binding to the interface surface of the platform of the 40S ribosomal subunit close to the P-site. Together with eIF1A (EIF1AX), also regulates the opening and closing of the mRNA binding channel, which ensures mRNA recruitment, scanning and the fidelity of initiation codon selection. Continuously monitors and protects against premature and partial base-pairing of codons in the 5’-UTR with the anticodon of initiator tRNA. Together with eIF1A (EIF1AX), acts for ribosomal scanning, promotion of the assembly of 48S complex at the initiation codon (43S PIC becomes 48S PIC after the start codon is reached), and dissociation of aberrant complexes. Interacts with EIF4G1, which in a mutual exclusive interaction associates either with EIF1 or with EIF4E on a common binding site. EIF4G1-EIF1 complex promotes ribosome scanning (on both short and long 5’UTR), leaky scanning (on short 5’UTR) which is the bypass of the initial start codon, and discrimination against cap-proximal AUG. Is probably maintained within the 43S PIC in open conformation thanks to eIF1A-EIF5 interaction. Once the correct start codon is reached, EIF1 is physically excluded from the decoding site, shifting the PIC into the closed conformation and arresting it at the start codon.

Subunit / interactions. Component of the 43S pre-initiation complex (43S PIC), which is composed of the 40S ribosomal subunit, EIF1, eIF1A (EIF1AX), eIF3 complex, EIF5 and eIF2-GTP-initiator tRNA complex (eIF2 ternary complex). Interacts with EIF4G1; in specific 5’-UTR length and AUG context. Interacts with EIF5; which in a mutual exclusive interaction associates either with EIF1 or with EIF2S2 on a common binding site. Interacts with RENT2.

Subcellular location. Cytoplasm.

Similarity. Belongs to the SUI1 family.

RefSeq proteins (1): NP_005792* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001950	SUI1	Domain
IPR005874	SUI1_euk	Family
IPR036877	SUI1_dom_sf	Homologous_superfamily

Pfam: PF01253

UniProt features (24 total): strand 7, modified residue 3, mutagenesis site 2, sequence conflict 2, helix 2, turn 2, site 2, sequence variant 2, initiator methionine 1, chain 1

Structure

Experimental structures (PDB)

15 structures.

PDB	Method	Resolution (Å)
9NPX	ELECTRON MICROSCOPY	2.1
8PPL	ELECTRON MICROSCOPY	2.65
6ZP4	ELECTRON MICROSCOPY	2.9
8PPK	ELECTRON MICROSCOPY	2.98
6YBW	ELECTRON MICROSCOPY	3.1
8PJ1	ELECTRON MICROSCOPY	3.4
7A09	ELECTRON MICROSCOPY	3.5
8XXN	ELECTRON MICROSCOPY	3.6
6ZMW	ELECTRON MICROSCOPY	3.7
6ZVJ	ELECTRON MICROSCOPY	3.8
9BLN	ELECTRON MICROSCOPY	3.9
7QP6	ELECTRON MICROSCOPY	4.7
4KZY	X-RAY DIFFRACTION	7.01
4KZX	X-RAY DIFFRACTION	7.81
2IF1	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P41567-F1	81.25	0.30

Functional residue map

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

Catalytic / active sites (2): 41 (binds 40s ribosomal subunit); 65 (binds 40s ribosomal subunit)

Post-translational modifications (3): 2, 2, 9

Mutagenesis-validated functional residues (2):

Position	Phenotype
109–111	decrease in interaction with eif4g1.
57–58	decrease in interaction with eif4g1.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 286 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, TGCGCANK_UNKNOWN, CCAWYNNGAAR_UNKNOWN, ENK_UV_RESPONSE_KERATINOCYTE_UP, SP3_Q3, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, HSIAO_HOUSEKEEPING_GENES, GOBP_TRANSLATIONAL_INITIATION, GOMF_TRANSLATION_INITIATION_FACTOR_ACTIVITY, MODULE_149, GGGTGGRR_PAX4_03, GOBP_TRANSLATION, CREB_Q4, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION

GO Biological Process (5): translational initiation (GO:0006413), regulation of translational initiation (GO:0006446), translation (GO:0006412), regulation of gene expression (GO:0010468), regulation of primary metabolic process (GO:0080090)

GO Molecular Function (5): RNA binding (GO:0003723), translation initiation factor activity (GO:0003743), translation factor activity, RNA binding (GO:0008135), ribosomal small subunit binding (GO:0043024), protein binding (GO:0005515)

GO Cellular Component (5): nucleus (GO:0005634), cytoplasm (GO:0005737), eukaryotic 43S preinitiation complex (GO:0016282), eukaryotic 48S preinitiation complex (GO:0033290), multi-eIF complex (GO:0043614)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
translational initiation	3
translation	2
translation factor activity	2
cytosolic small ribosomal subunit	2
cytosolic translation preinitiation complex	2
formation of translation initiation ternary complex	1
metabolic process	1
regulation of translation	1
peptidyltransferase activity	1
translational elongation	1
translational termination	1
macromolecule biosynthetic process	1
protein metabolic process	1
protein biosynthetic process	1
gene expression	1
regulation of macromolecule biosynthetic process	1
regulation of metabolic process	1
primary metabolic process	1
nucleic acid binding	1
RNA binding	1
ribosome binding	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1
cytoplasm	1
ribonucleoprotein complex	1

Protein interactions and networks

STRING

2702 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EIF1	EIF5	P55010	999
EIF1	EIF4B	P23588	994
EIF1	EIF4A1	P04765	991
EIF1	EIF4A2	Q14240	985
EIF1	EIF2D	P41214	974
EIF1	EIF4G1	Q04637	972
EIF1	EIF5B	O60841	969
EIF1	EIF2S2	P20042	951
EIF1	EIF2S1	P05198	935
EIF1	DHX29	Q7Z478	929
EIF1	EIF3C	Q99613	904
EIF1	EIF1AX	P47813	898
EIF1	EIF2S3	P41091	895
EIF1	EIF3J	O75822	890
EIF1	EIF3B	P55884	876

IntAct

24 interactions, top by confidence:

A	B	Type	Score
EIF1	EIF3A	psi-mi:“MI:0914”(association)	0.520
EIF3C	EIF1	psi-mi:“MI:0407”(direct interaction)	0.520
EIF3A	EIF1	psi-mi:“MI:0407”(direct interaction)	0.520
	TK2	psi-mi:“MI:0915”(physical association)	0.400
HMGB2	EIF1	psi-mi:“MI:0915”(physical association)	0.370
HMGB1	EIF1	psi-mi:“MI:0915”(physical association)	0.370
MAPK6	EIF1	psi-mi:“MI:0915”(physical association)	0.370
RASA1	EIF1	psi-mi:“MI:0915”(physical association)	0.370
EIF1		psi-mi:“MI:0915”(physical association)	0.370
PAK4	MCM5	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
CAPRIN1	EIF3CL	psi-mi:“MI:0914”(association)	0.350
DDX6	EIF3CL	psi-mi:“MI:0914”(association)	0.350
EIF2S3	EIF3CL	psi-mi:“MI:0914”(association)	0.350
EIF3B	EIF3CL	psi-mi:“MI:0914”(association)	0.350
EIF5	EIF3CL	psi-mi:“MI:0914”(association)	0.350
RPS11	SCAMP1	psi-mi:“MI:0914”(association)	0.350
	EIF3F	psi-mi:“MI:0915”(physical association)	0.320
EPB41	EIF1	psi-mi:“MI:0915”(physical association)	0.000
groEL	EIF1	psi-mi:“MI:0915”(physical association)	0.000
OLFM2	EIF1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (51): EIF1 (Co-fractionation), EIF1 (Co-fractionation), EIF1 (Co-fractionation), EIF3G (Co-fractionation), EIF1 (Affinity Capture-RNA), EIF1 (Affinity Capture-MS), EIF1 (Affinity Capture-MS), EIF4G1 (Reconstituted Complex), EIF4G1 (Affinity Capture-Western), EIF3C (Affinity Capture-Western), EIF4G1 (PCA), EIF1 (Synthetic Lethality), EIF1 (Affinity Capture-MS), EIF1 (Affinity Capture-MS), EIF1 (Two-hybrid)

ESM2 similar proteins: A0A324, A1XQR9, A4FUI2, A5JSS2, A6MZM2, G1SHQ2, O09167, O14602, O35900, O60739, P20280, P25800, P41567, P46778, P47813, P48024, P49666, P51971, P61220, P62303, P62304, P62305, P62308, P62309, Q09028, Q0D5W6, Q0P5B3, Q2KIA3, Q3B8H4, Q3ZBL0, Q4R4X9, Q503U0, Q5E938, Q5RA42, Q5RBW7, Q5RFF4, Q60872, Q60972, Q6GVM3, Q6QN05

Diamond homologs: A0B635, A0RWW9, A2BIX0, A2SQ91, A3CX23, A4FWB4, A4YIU6, A6VGZ2, A7I9K6, A8AC05, A9A389, A9A9Q7, B0R868, B6YSM1, B8GDE2, B9LR02, C5A278, O26118, O29348, O60739, P08245, P0A2G7, P0A2G8, P14021, P41567, P42678, P45116, P48024, P51971, P58193, P61220, P79060, Q12UF1, Q2FTC8, Q2NFW4, Q3IU96, Q46F27, Q4JAE7, Q4R4X9, Q55397

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
EIF1	“up-regulates activity”	“40S cytosolic small ribosomal subunit”	relocalization
EIF1	“down-regulates activity”	“60S cytosolic large ribosomal subunit”
EIF3_complex	“up-regulates activity”	EIF1	stabilization
EIF1	“form complex”	43S_pre_initiation_complex	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 23 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	7	70.1×	5e-10
Formation of the ternary complex, and subsequently, the 43S complex	6	68.0×	1e-08
Translation initiation complex formation	6	60.1×	1e-08
GTP hydrolysis and joining of the 60S ribosomal subunit	7	36.9×	1e-08
L13a-mediated translational silencing of Ceruloplasmin expression	6	31.9×	5e-07
Formation of a pool of free 40S subunits	5	29.5×	1e-05

GO biological processes:

GO term	Partners	Fold	FDR
formation of cytoplasmic translation initiation complex	6	306.4×	3e-12
translational initiation	6	97.8×	3e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

406 predictions. Top by Δscore:

Variant	Effect	Δscore
17:41689067:TCGGT:T	donor_loss	1.0000
17:41689068:CGGT:C	donor_loss	1.0000
17:41689070:G:GG	donor_gain	1.0000
17:41689070:GTA:G	donor_loss	1.0000
17:41689071:T:A	donor_loss	1.0000
17:41689869:G:GT	donor_gain	1.0000
17:41689930:GCGTT:G	donor_gain	1.0000
17:41689938:GAAA:G	donor_gain	1.0000
17:41689939:A:T	donor_gain	1.0000
17:41689942:G:GG	donor_gain	1.0000
17:41689953:G:GG	donor_gain	1.0000
17:41689966:A:T	donor_gain	1.0000
17:41690079:T:TA	acceptor_gain	1.0000
17:41690084:GCA:G	acceptor_loss	1.0000
17:41690085:CAGAA:C	acceptor_loss	1.0000
17:41690086:A:AG	acceptor_gain	1.0000
17:41690086:AGAAG:A	acceptor_loss	1.0000
17:41690087:G:GT	acceptor_gain	1.0000
17:41690087:GA:G	acceptor_gain	1.0000
17:41690087:GAA:G	acceptor_gain	1.0000
17:41690087:GAAGT:G	acceptor_gain	1.0000
17:41690187:GAG:G	donor_gain	1.0000
17:41690190:G:GG	donor_gain	1.0000
17:41690191:T:G	donor_loss	1.0000
17:41689772:TTTCA:T	acceptor_loss	0.9900
17:41689773:TTCA:T	acceptor_loss	0.9900
17:41689775:CA:C	acceptor_loss	0.9900
17:41689776:A:AG	acceptor_gain	0.9900
17:41689776:A:AT	acceptor_loss	0.9900
17:41689777:G:GG	acceptor_gain	0.9900

AlphaMissense

755 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:41689844:T:A	I33K	1.000
17:41689847:G:C	R34T	1.000
17:41689847:G:T	R34I	1.000
17:41689848:A:C	R34S	1.000
17:41689848:A:T	R34S	1.000
17:41689853:A:C	Q36P	1.000
17:41689857:G:C	Q37H	1.000
17:41689857:G:T	Q37H	1.000
17:41689859:G:C	R38T	1.000
17:41689859:G:T	R38I	1.000
17:41689860:A:C	R38S	1.000
17:41689860:A:T	R38S	1.000
17:41689865:G:A	G40D	1.000
17:41689868:G:C	R41T	1.000
17:41689868:G:T	R41M	1.000
17:41689869:G:C	R41S	1.000
17:41689869:G:T	R41S	1.000
17:41689870:A:G	K42E	1.000
17:41689871:A:T	K42M	1.000
17:41689872:G:C	K42N	1.000
17:41689872:G:T	K42N	1.000
17:41689877:T:C	L44P	1.000
17:41689880:C:T	T45I	1.000
17:41689886:T:A	V47D	1.000
17:41689889:A:C	Q48P	1.000
17:41689936:A:G	K64E	1.000
17:41689938:G:C	K64N	1.000
17:41689938:G:T	K64N	1.000
17:41690097:T:C	C69R	1.000
17:41690098:G:A	C69Y	1.000

dbSNP variants (sampled 300 via entrez): RS1000183049 (17:41692326 A>G,T), RS1000229444 (17:41690429 C>G,T), RS1000261615 (17:41689272 C>A,G,T), RS1000558790 (17:41689376 A>C,G), RS1001668086 (17:41687025 C>A), RS1002244211 (17:41687726 GAC>G), RS1002290575 (17:41691567 GTTTTT>G,GT,GTTT,GTTTT,GTTTTTT,GTTTTTTT), RS1002473556 (17:41687248 G>A), RS1002623230 (17:41689809 C>G,T), RS1002726368 (17:41687888 G>A), RS1003220483 (17:41691154 C>G,T), RS1003293586 (17:41692115 C>T), RS1003479762 (17:41688573 G>A), RS1003974009 (17:41688680 T>A), RS1004032268 (17:41692108 T>C)

Disease associations

OMIM: gene MIM:619901 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	4
Cyclosporine	increases expression	4
bisphenol A	affects expression, increases expression	3
Acetaminophen	increases expression	3
Air Pollutants	increases abundance, affects expression, increases expression, affects cotreatment, decreases expression	3
Cisplatin	affects cotreatment, decreases expression, increases expression	3
Tobacco Smoke Pollution	increases expression, increases methylation	3
Particulate Matter	increases abundance, increases expression, affects cotreatment	3
cobaltous chloride	increases expression	2
Caffeine	decreases phosphorylation, increases expression	2
Formaldehyde	increases expression	2
Ozone	decreases expression, increases abundance, affects expression, affects cotreatment	2
Valproic Acid	affects expression, decreases expression	2
Cadmium Chloride	increases expression, decreases reaction, increases abundance, increases palmitoylation	2
Raloxifene Hydrochloride	affects cotreatment, increases expression	2
chloroacetaldehyde	affects expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases abundance, affects cotreatment, decreases expression	1
uranyl acetate	affects expression	1
deoxynivalenol	increases expression	1
tetrahydropalmatine	decreases expression	1
beta-lapachone	increases expression, decreases expression	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
2-bromopalmitate	decreases reaction, increases abundance, increases palmitoylation	1
ochratoxin A	increases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
S-(1,2-dichlorovinyl)cysteine	increases expression	1
beta-methylcholine	affects expression	1

Cellosaurus cell lines

4 cell lines: 3 cancer cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1DF	Abcam HCT 116 EIF1 KO	Cancer cell line	Male
CVCL_B2WB	Abcam HEK293T EIF1 KO	Transformed cell line	Female
CVCL_SL58	HAP1 EIF1 (-) 1	Cancer cell line	Male
CVCL_SL59	HAP1 EIF1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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