EIF1AD

Summary

EIF1AD (eukaryotic translation initiation factor 1A domain containing, HGNC:28147) is a protein-coding gene on chromosome 11q13.1, encoding Probable RNA-binding protein EIF1AD (Q8N9N8). Plays a role into cellular response to oxidative stress. It is a common-essential gene (DepMap: required in 99.7% of cancer cell lines).

Predicted to enable RNA binding activity and translation initiation factor activity. Predicted to be involved in translational initiation. Located in cytosol and nucleoplasm.

Source: NCBI Gene 84285 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 25 total
• Cancer dependency (DepMap): dependent in 99.7% of screened cell lines (common-essential)
• MANE Select transcript: NM_001242481

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28147
Approved symbol	EIF1AD
Name	eukaryotic translation initiation factor 1A domain containing
Location	11q13.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC11102, haponin
Ensembl gene	ENSG00000175376
Ensembl biotype	protein_coding
OMIM	618473
Entrez	84285

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 19 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000312234, ENST00000525767, ENST00000526449, ENST00000526451, ENST00000527051, ENST00000527249, ENST00000529964, ENST00000529973, ENST00000530462, ENST00000532707, ENST00000533544, ENST00000889535, ENST00000889536, ENST00000889537, ENST00000889538, ENST00000935685, ENST00000935686, ENST00000935687, ENST00000949577, ENST00000949578, ENST00000949579

RefSeq mRNA: 7 — MANE Select: NM_001242481 NM_001242481, NM_001242482, NM_001242483, NM_001242484, NM_001242485, NM_001242486, NM_032325

CCDS: CCDS8124

Canonical transcript exons

ENST00000533544 — 6 exons

Exon	Start	End
ENSE00001335493	65996545	65998743
ENSE00002178795	66000303	66000505
ENSE00002192921	66001910	66002157
ENSE00003477966	65999567	65999675
ENSE00003558990	66000053	66000161
ENSE00003611431	65999350	65999397

Expression profiles

Bgee: expression breadth ubiquitous, 250 present calls, max score 97.20.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.1697 / max 93.8976, expressed in 1813 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
120746	16.6399	1809
120745	1.4363	856
120748	0.7139	437
120747	0.3795	170

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	97.20	gold quality
buccal mucosa cell	CL:0002336	95.73	gold quality
amniotic fluid	UBERON:0000173	95.62	gold quality
oviduct epithelium	UBERON:0004804	95.44	gold quality
upper arm skin	UBERON:0004263	93.20	silver quality
epithelial cell of pancreas	CL:0000083	92.08	silver quality
esophagus squamous epithelium	UBERON:0006920	90.74	gold quality
islet of Langerhans	UBERON:0000006	90.39	gold quality
germinal epithelium of ovary	UBERON:0001304	90.20	gold quality
bone marrow cell	CL:0002092	90.17	gold quality
ileal mucosa	UBERON:0000331	89.39	gold quality
tendon of biceps brachii	UBERON:0008188	88.89	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.70	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	88.59	gold quality
tonsil	UBERON:0002372	88.46	gold quality
gastrocnemius	UBERON:0001388	88.45	gold quality
muscle of leg	UBERON:0001383	88.40	gold quality
blood	UBERON:0000178	88.26	gold quality
lymph node	UBERON:0000029	88.15	gold quality
stromal cell of endometrium	CL:0002255	88.12	gold quality
vermiform appendix	UBERON:0001154	87.97	gold quality
gingival epithelium	UBERON:0001949	87.89	gold quality
nipple	UBERON:0002030	87.72	gold quality
monocyte	CL:0000576	87.56	gold quality
leukocyte	CL:0000738	87.56	gold quality
fallopian tube	UBERON:0003889	87.38	gold quality
bone marrow	UBERON:0002371	87.17	gold quality
tibialis anterior	UBERON:0001385	87.08	gold quality
kidney epithelium	UBERON:0004819	87.04	gold quality
nasal cavity epithelium	UBERON:0005384	86.91	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

105 targeting EIF1AD, 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-7110-3P	100.00	73.18	2486
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.7% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 1)

• Novel protein haponin regulates cellular response to oxidative stress. (PMID:22095125)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	eif1ad	ENSDARG00000016280
mus_musculus	Eif1ad	ENSMUSG00000024841
rattus_norvegicus	Eif1ad	ENSRNOG00000020463
drosophila_melanogaster	CG31957	FBGN0051957
caenorhabditis_elegans		WBGENE00014112

Protein

Protein identifiers

Probable RNA-binding protein EIF1AD — Q8N9N8 (reviewed: Q8N9N8)

Alternative names: Eukaryotic translation initiation factor 1A domain-containing protein, Haponin

All UniProt accessions (6): E9PLI6, E9PNH5, E9PQD0, E9PS30, E9PS76, Q8N9N8

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role into cellular response to oxidative stress. Decreases cell proliferation.

Subunit / interactions. Interacts with GAPDH and STAT1.

Subcellular location. Nucleus.

Tissue specificity. Expressed in the glioblastoma cell line U-87MG, the embryonic kidney cell line HEK293, the pancreatic carcinoma cell line PANC-1, the breast carcinoma cell line MCF-7, the lung cancer cell line NCI-H460, and the chronic myelogenous leukemia cell line K-562.

Similarity. Belongs to the EIF1AD family.

RefSeq proteins (7): NP_001229410, NP_001229411, NP_001229412, NP_001229413, NP_001229414, NP_001229415, NP_115701 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001253	TIF_eIF-1A	Family
IPR006196	RNA-binding_domain_S1_IF1	Domain
IPR012340	NA-bd_OB-fold	Homologous_superfamily
IPR039294	EIF1AD	Family

Pfam: PF01176

UniProt features (24 total): modified residue 7, strand 5, helix 3, sequence variant 2, short sequence motif 2, chain 1, domain 1, turn 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
6ZXG	ELECTRON MICROSCOPY	2.6
6ZXH	ELECTRON MICROSCOPY	2.7
6ZXF	ELECTRON MICROSCOPY	3.7
2DGY	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N9N8-F1	76.04	0.24

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 (7): 137, 155, 159, 33, 131, 135, 136

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 119 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GOBP_TRANSLATIONAL_INITIATION, GOMF_TRANSLATION_INITIATION_FACTOR_ACTIVITY, chr11q13, GOBP_TRANSLATION, GGAANCGGAANY_UNKNOWN, NOUZOVA_TRETINOIN_AND_H4_ACETYLATION, SCGGAAGY_ELK1_02, LU_EZH2_TARGETS_DN, GSE13547_2H_VS_12_H_ANTI_IGM_STIM_BCELL_DN, ALKBH3_TARGET_GENES, BANP_TARGET_GENES, CEBPZ_TARGET_GENES, DIDO1_TARGET_GENES, DLX4_TARGET_GENES

GO Biological Process (2): translation (GO:0006412), translational initiation (GO:0006413)

GO Molecular Function (3): RNA binding (GO:0003723), translation initiation factor activity (GO:0003743), protein binding (GO:0005515)

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
translational initiation	2
cellular anatomical structure	2
peptidyltransferase activity	1
translational elongation	1
translational termination	1
macromolecule biosynthetic process	1
protein metabolic process	1
protein biosynthetic process	1
formation of translation initiation ternary complex	1
translation	1
metabolic process	1
nucleic acid binding	1
translation factor activity	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1

Protein interactions and networks

STRING

880 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EIF1AD	RIOK1	Q9BRS2	574
EIF1AD	LRRC47	Q8N1G4	549
EIF1AD	TATDN3	Q17R31	522
EIF1AD	EIF1AX	P47813	502
EIF1AD	RASL11A	Q6T310	471
EIF1AD	FAM81B	Q96LP2	403
EIF1AD	GLTPD2	A6NH11	399
EIF1AD	PNO1	Q9NRX1	392
EIF1AD	DNAJB12	Q9NXW2	379
EIF1AD	ENKUR	Q8TC29	375
EIF1AD	DOLPP1	Q86YN1	369
EIF1AD	ANKMY1	Q9P2S6	368
EIF1AD	EIF2B3	Q9NR50	365
EIF1AD	TBC1D1	Q86TI0	356
EIF1AD	NOB1	Q9ULX3	351

IntAct

138 interactions, top by confidence:

A	B	Type	Score
EIF1AD	SDCBP2	psi-mi:“MI:0915”(physical association)	0.780
SDCBP2	EIF1AD	psi-mi:“MI:0915”(physical association)	0.780
SDCBP	EIF1AD	psi-mi:“MI:0915”(physical association)	0.720
STX11	EIF1AD	psi-mi:“MI:0915”(physical association)	0.720
EIF1AD	BEND7	psi-mi:“MI:0915”(physical association)	0.720
ZBTB8A	EIF1AD	psi-mi:“MI:0915”(physical association)	0.720
EIF1AD	SDCBP	psi-mi:“MI:0915”(physical association)	0.720
EIF1AD	STX11	psi-mi:“MI:0915”(physical association)	0.720
BEND7	EIF1AD	psi-mi:“MI:0915”(physical association)	0.720
EIF1AD	ZBTB8A	psi-mi:“MI:0915”(physical association)	0.720
SUN2	LMNA	psi-mi:“MI:0914”(association)	0.720
RIOK1	PRMT5	psi-mi:“MI:0914”(association)	0.710
CEP55	EIF1AD	psi-mi:“MI:0915”(physical association)	0.670
EIF1AD	STAT1	psi-mi:“MI:0915”(physical association)	0.670
EIF1AD	GLYR1	psi-mi:“MI:0915”(physical association)	0.670
EIF1AD	CEP55	psi-mi:“MI:0915”(physical association)	0.670
STAT1	EIF1AD	psi-mi:“MI:0915”(physical association)	0.670
GLYR1	EIF1AD	psi-mi:“MI:0915”(physical association)	0.670

BioGRID (106): EIF1AD (Two-hybrid), EIF1AD (Two-hybrid), EIF1AD (Two-hybrid), EIF1AD (Two-hybrid), EIF1AD (Two-hybrid), EIF1AD (Two-hybrid), EIF1AD (Two-hybrid), EIF1AD (Two-hybrid), GLYR1 (Two-hybrid), BEND7 (Two-hybrid), ZBTB8A (Two-hybrid), EIF1AD (Affinity Capture-RNA), EIF1AD (Affinity Capture-RNA), EIF1AD (Two-hybrid), EIF1AD (Two-hybrid)

ESM2 similar proteins: A0JMQ0, A4IHS2, C0HAV3, F1QLR3, O60308, O60524, O60870, O70523, P0C659, P51114, P51115, Q0V9J5, Q23646, Q29MZ0, Q2T9V5, Q2TBT7, Q2YDM7, Q3THJ3, Q3UM18, Q4R354, Q4R8L2, Q58CY2, Q5BJ56, Q5BJT6, Q5HZM1, Q5RD29, Q5RKI6, Q5U4Z3, Q5XI81, Q5ZJD3, Q5ZLG3, Q61584, Q642T7, Q68CQ4, Q6K1L7, Q6NY89, Q7SXW2, Q7SY07, Q7T0W1, Q7Z569

Diamond homologs: A2STQ8, A4FYM5, A4YEH8, A6UUK8, A6VJQ7, A9A6C2, B0R7D8, B8D5N1, C3MK60, C3MU29, C3N0P1, C3N8M9, C3NMA0, C4KK84, O14602, O27085, O29481, O59280, P38912, P47813, P47814, P47815, P55877, P56331, P57676, Q03590, Q12YN5, Q18EX1, Q18JF4, Q2NEP1, Q3IT14, Q3THJ3, Q469I9, Q469J2, Q4JA54, Q4R354, Q54YJ6, Q57887, Q5JH78, Q5RA42

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 56 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
SARS-CoV Infections	5	8.7×	8e-03
Axon guidance	5	7.0×	9e-03
Nervous system development	5	6.7×	1e-02
Viral Infection Pathways	6	5.8×	9e-03
Infectious disease	7	5.4×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

25 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

1238 predictions. Top by Δscore:

Variant	Effect	Δscore
11:65998739:TTTGT:T	acceptor_gain	1.0000
11:65998740:TTGT:T	acceptor_gain	1.0000
11:65998741:TGT:T	acceptor_gain	1.0000
11:65998741:TGTC:T	acceptor_loss	1.0000
11:65998742:GT:G	acceptor_gain	1.0000
11:65998743:TCT:T	acceptor_loss	1.0000
11:65998744:C:CC	acceptor_gain	1.0000
11:65998744:CT:C	acceptor_loss	1.0000
11:65998747:C:CT	acceptor_gain	1.0000
11:65998749:C:CT	acceptor_gain	1.0000
11:65999344:CCTCA:C	donor_loss	1.0000
11:65999345:CTCA:C	donor_loss	1.0000
11:65999346:TCA:T	donor_loss	1.0000
11:65999349:C:CT	donor_loss	1.0000
11:65999562:CCTA:C	donor_loss	1.0000
11:65999563:CTACC:C	donor_loss	1.0000
11:65999564:TA:T	donor_loss	1.0000
11:65999565:A:AC	donor_gain	1.0000
11:65999565:A:AT	donor_loss	1.0000
11:65999566:C:CC	donor_gain	1.0000
11:65999566:C:CG	donor_loss	1.0000
11:65999576:T:TA	donor_gain	1.0000
11:65999671:GTCCC:G	acceptor_gain	1.0000
11:65999672:TCCC:T	acceptor_gain	1.0000
11:65999673:CCC:C	acceptor_gain	1.0000
11:65999673:CCCC:C	acceptor_gain	1.0000
11:65999674:CC:C	acceptor_gain	1.0000
11:65999674:CCC:C	acceptor_gain	1.0000
11:65999675:CC:C	acceptor_gain	1.0000
11:65999676:C:CC	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000161750 (11:65996740 T>C), RS1000204984 (11:66004026 C>T), RS1000597989 (11:65996480 A>G), RS1000668160 (11:66002373 A>G), RS1000767201 (11:65997760 T>C,G), RS1001227845 (11:66001879 C>T), RS1001228704 (11:66002164 G>A), RS1001575937 (11:66001632 T>C), RS1002001266 (11:65999194 C>T), RS1002541002 (11:66000565 T>C), RS1002763637 (11:65997839 G>A), RS1002835470 (11:66002773 G>A,T), RS1003708820 (11:65998279 A>G), RS1004159622 (11:65997366 C>CAA), RS1004170999 (11:65997606 A>C)

Disease associations

OMIM: gene MIM:618473 | disease phenotypes: MIM:614008

GenCC curated gene-disease

Mondo (1): Nestor-Guillermo progeria syndrome (MONDO:0013523)

Orphanet (1): Nestor-Guillermo progeria syndrome (Orphanet:280576)

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST002481_8	Acne (severe)	3.000000e-11
GCST006585_856	Blood protein levels	2.000000e-06
GCST007294_7	Body fat distribution (trunk fat ratio)	8.000000e-12
GCST007294_75	Body fat distribution (trunk fat ratio)	1.000000e-07
GCST007295_158	Body fat distribution (leg fat ratio)	8.000000e-06
GCST007295_48	Body fat distribution (leg fat ratio)	3.000000e-09
GCST008103_21	Bipolar disorder	2.000000e-08
GCST010283_2	Serum uric acid levels	2.000000e-20

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004341	body fat distribution
EFO:0004761	uric acid measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	increases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	increases expression	1
beta-lapachone	increases expression	1
sodium arsenite	increases expression	1
manganese chloride	increases abundance, increases expression	1
2-palmitoylglycerol	increases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	increases expression	1
PCI 5002	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Leflunomide	decreases expression	1
Demecolcine	decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Diethylstilbestrol	increases expression	1
Doxorubicin	decreases expression	1
Estradiol	affects expression	1
Indomethacin	affects cotreatment, increases expression	1
Ketoconazole	increases expression	1
Manganese	increases abundance, increases expression	1
Ribonucleotides	affects binding	1
Silver	increases expression	1
Smoke	decreases expression	1
Valproic Acid	increases expression	1
Vincristine	decreases expression	1
Zinc	affects cotreatment, increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Cyclosporine	increases expression	1
Cadmium Chloride	decreases expression	1
Copper Sulfate	increases expression	1

Clinical trials (associated diseases)

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