EIF1B

gene
On this page

Also known as GC20

Summary

EIF1B (eukaryotic translation initiation factor 1B, HGNC:30792) is a protein-coding gene on chromosome 3p22.1, encoding Eukaryotic translation initiation factor 1b (O60739). Probably involved in translation.

Enables RNA binding activity. Predicted to be involved in regulation of translational initiation. Predicted to be part of eukaryotic 43S preinitiation complex.

Source: NCBI Gene 10289 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 11 total
  • MANE Select transcript: NM_005875

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:30792
Approved symbolEIF1B
Nameeukaryotic translation initiation factor 1B
Location3p22.1
Locus typegene with protein product
StatusApproved
AliasesGC20
Ensembl geneENSG00000114784
Ensembl biotypeprotein_coding
Entrez10289

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 retained_intron, 1 protein_coding

ENST00000232905, ENST00000462088, ENST00000487151, ENST00000488260

RefSeq mRNA: 1 — MANE Select: NM_005875 NM_005875

CCDS: CCDS2690

Canonical transcript exons

ENST00000232905 — 4 exons

ExonStartEnd
ENSE000008257474031197040312424
ENSE000010300734030970740309972
ENSE000011672194031147040311571
ENSE000035380704031089340311056

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 99.31.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 174.0310 / max 3842.7949, expressed in 1827 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter IDTPM avgSamples expressed
36173108.28031821
3617526.18501810
3617622.28351814
3617417.00011791
361770.2821114

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
heart right ventricleUBERON:000208099.31gold quality
adult organismUBERON:000702399.15gold quality
cardiac ventricleUBERON:000208299.13gold quality
heart left ventricleUBERON:000208499.13gold quality
ponsUBERON:000098899.11gold quality
myocardiumUBERON:000234999.09gold quality
left ventricle myocardiumUBERON:000656699.09gold quality
cardiac atriumUBERON:000208199.05gold quality
right atrium auricular regionUBERON:000663199.05gold quality
endothelial cellCL:000011598.95gold quality
substantia nigra pars compactaUBERON:000196598.86gold quality
heartUBERON:000094898.81gold quality
apex of heartUBERON:000209898.81gold quality
lateral nuclear group of thalamusUBERON:000273698.81gold quality
cardiac muscle of right atriumUBERON:000337998.76gold quality
vena cavaUBERON:000408798.75gold quality
ganglionic eminenceUBERON:000402398.69gold quality
superior vestibular nucleusUBERON:000722798.69gold quality
trabecular bone tissueUBERON:000248398.68gold quality
skeletal muscle tissue of biceps brachiiUBERON:000450298.64gold quality
pigmented layer of retinaUBERON:000178298.62gold quality
Brodmann (1909) area 23UBERON:001355498.60gold quality
dorsal root ganglionUBERON:000004498.59gold quality
substantia nigra pars reticulataUBERON:000196698.52gold quality
trigeminal ganglionUBERON:000167598.45gold quality
biceps brachiiUBERON:000150798.42gold quality
cortical plateUBERON:000534398.42gold quality
cartilage tissueUBERON:000241898.40gold quality
postcentral gyrusUBERON:000258198.37gold quality
ventricular zoneUBERON:000305398.37gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

ExperimentMarker?Max mean expression
E-MTAB-9221yes11.33
E-MTAB-10042yes5.99
E-MTAB-8410yes3.90
E-HCAD-5no7.70
E-ANND-3no0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

49 targeting EIF1B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-3646100.0073.565283
HSA-MIR-196A-1-3P99.9972.152772
HSA-MIR-513B-5P99.9969.962150
HSA-MIR-511-3P99.9968.851467
HSA-MIR-428299.9975.366408
HSA-MIR-3065-5P99.9771.563281
HSA-MIR-515-5P99.9269.822343
HSA-MIR-519E-5P99.9269.622358
HSA-MIR-3529-3P99.9073.553045
HSA-MIR-368699.9070.532432
HSA-MIR-132399.8369.892471
HSA-MIR-374C-5P99.8072.062910
HSA-MIR-655-3P99.8072.192909
HSA-MIR-548O-3P99.7469.302228
HSA-MIR-471999.7372.103329
HSA-MIR-4802-3P99.7270.131273
HSA-MIR-494-3P99.7071.452795
HSA-MIR-7161-5P99.6868.921592
HSA-MIR-548U99.6567.781463
HSA-MIR-130399.6569.771662
HSA-MIR-58799.6470.862611
HSA-MIR-426199.5970.303415
HSA-MIR-6513-3P99.5969.771102
HSA-MIR-5571-5P99.4966.991764
HSA-MIR-147B-5P99.4570.622432
HSA-MIR-6507-3P99.3567.321059
HSA-MIR-580-5P99.2870.941776
HSA-MIR-397899.2468.392201
HSA-MIR-223-5P99.2468.821206

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_rerioeif1bENSDARG00000029445
mus_musculusEif1bENSMUSG00000006941
rattus_norvegicusEif1bENSRNOG00000018848
caenorhabditis_elegansWBGENE00020868

Paralogs (1): EIF1 (ENSG00000173812)

Protein

Protein identifiers

Eukaryotic translation initiation factor 1bO60739 (reviewed: O60739)

Alternative names: Protein translation factor SUI1 homolog GC20

All UniProt accessions (2): O60739, Q6FG85

UniProt curated annotations — full annotation on UniProt →

Function. Probably involved in translation.

Similarity. Belongs to the SUI1 family.

RefSeq proteins (1): NP_005866* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001950SUI1Domain
IPR005874SUI1_eukFamily
IPR036877SUI1_dom_sfHomologous_superfamily

Pfam: PF01253

UniProt features (6 total): modified residue 2, sequence conflict 2, initiator methionine 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-O60739-F180.410.29

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, 9

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 157 (showing top): YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_10, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_TRANSLATIONAL_INITIATION, GOMF_TRANSLATION_INITIATION_FACTOR_ACTIVITY, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GROSS_HYPOXIA_VIA_HIF1A_DN, chr3p22, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, HU_GENOTOXIC_DAMAGE_24HR, ACEVEDO_LIVER_CANCER_UP, LEE_CALORIE_RESTRICTION_MUSCLE_DN, ATGTTTC_MIR494, GOBP_REGULATION_OF_TRANSLATION, GOBP_REGULATION_OF_TRANSLATIONAL_INITIATION

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

GO Molecular Function (4): RNA binding (GO:0003723), translation initiation factor activity (GO:0003743), ribosomal small subunit binding (GO:0043024), protein binding (GO:0005515)

GO Cellular Component (1): eukaryotic 43S preinitiation complex (GO:0016282)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
translational initiation3
regulation of translation1
peptidyltransferase activity1
translational elongation1
translational termination1
macromolecule biosynthetic process1
protein metabolic process1
protein biosynthetic process1
formation of translation initiation ternary complex1
translation1
metabolic process1
gene expression1
regulation of macromolecule biosynthetic process1
regulation of metabolic process1
primary metabolic process1
nucleic acid binding1
translation factor activity1
ribosome binding1
binding1
cytosolic small ribosomal subunit1
cytosolic translation preinitiation complex1

Protein interactions and networks

STRING

2073 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
EIF1BATP5IF1Q9UII2609
EIF1BLMCD1Q9NZU5571
EIF1BEIF3KQ9UBQ5484
EIF1BEIF2S2P20042480
EIF1BMRPS21P82921480
EIF1BEIF5BO60841454
EIF1BEIF5P55010453
EIF1BLTA4HP09960453
EIF1BECM1Q16610453
EIF1BRBM23Q86U06448
EIF1BHTR2BP41595447
EIF1BRAB31Q13636446
EIF1BEIF2S1P05198440
EIF1BROBO1Q9Y6N7435
EIF1BEIF3JO75822430

IntAct

193 interactions, top by confidence:

ABTypeScore
UCHL1EIF1Bpsi-mi:“MI:0915”(physical association)0.680
EIF1BFUSpsi-mi:“MI:0915”(physical association)0.680
EIF1BDVL3psi-mi:“MI:0915”(physical association)0.560
EIF1BSPG21psi-mi:“MI:0915”(physical association)0.560
EIF1Bpsi-mi:“MI:0915”(physical association)0.370
EIF1BiglC2psi-mi:“MI:0915”(physical association)0.370
RHOBEIF1Bpsi-mi:“MI:0915”(physical association)0.370
PEX19EIF1Bpsi-mi:“MI:0915”(physical association)0.370
ATXN1EIF1Bpsi-mi:“MI:0915”(physical association)0.370
EIF1BDVL2psi-mi:“MI:0915”(physical association)0.370
CD74psi-mi:“MI:0914”(association)0.350
DDX60G6PDpsi-mi:“MI:0914”(association)0.350
EIF3BEIF3CLpsi-mi:“MI:0914”(association)0.350
NPM1RPS3Apsi-mi:“MI:0914”(association)0.350
PSPC1MCRIP1psi-mi:“MI:0914”(association)0.350
RPS16MCRIP1psi-mi:“MI:0914”(association)0.350
EIF1BPOTEIpsi-mi:“MI:0914”(association)0.350
NPPBACOT7psi-mi:“MI:0914”(association)0.350
EIF1BEIF3Epsi-mi:“MI:0915”(physical association)0.000
EIF1BEIF3Apsi-mi:“MI:0915”(physical association)0.000
EIF1BEIF3Kpsi-mi:“MI:0915”(physical association)0.000
EIF1BACTR3psi-mi:“MI:0915”(physical association)0.000
EIF1BVEPH1psi-mi:“MI:0915”(physical association)0.000
EIF1BEIF3Hpsi-mi:“MI:0915”(physical association)0.000
EIF1BEIF3Gpsi-mi:“MI:0915”(physical association)0.000

BioGRID (59): TRIM38 (Two-hybrid), EIF1B (Co-fractionation), EIF1B (Co-fractionation), EIF2D (Co-fractionation), EIF3G (Co-fractionation), TJP2 (Co-fractionation), DVL2 (Two-hybrid), EIF3A (Affinity Capture-MS), EIF3L (Affinity Capture-MS), EIF3M (Affinity Capture-MS), EIF3F (Affinity Capture-MS), EIF3D (Affinity Capture-MS), EIF3E (Affinity Capture-MS), ACTR3 (Affinity Capture-MS), RPS11 (Affinity Capture-MS)

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

2 interactions.

AEffectBMechanism
EIF1B“up-regulates activity”“40S cytosolic small ribosomal subunit”relocalization
EIF1B“down-regulates activity”“60S cytosolic large ribosomal subunit”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 176 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:

PathwayPartnersFoldFDR
Formation of the ternary complex, and subsequently, the 43S complex2536.4×8e-32
Translation initiation complex formation2633.4×7e-32
Ribosomal scanning and start codon recognition2633.4×7e-32
Eukaryotic Translation Elongation1324.5×1e-13
Formation of a pool of free 40S subunits3224.2×5e-34
L13a-mediated translational silencing of Ceruloplasmin expression3523.9×7e-37
GTP hydrolysis and joining of the 60S ribosomal subunit3523.7×7e-37
Antigen processing: Ub, ATP-independent proteasomal degradation623.1×2e-06

GO biological processes:

GO termPartnersFoldFDR
formation of cytoplasmic translation initiation complex1277.9×1e-19
translational initiation1735.2×8e-20
cytoplasmic translation2122.5×6e-20
regulation of translational initiation513.5×4e-03
translation2213.1×4e-16
ribosomal small subunit biogenesis810.5×2e-04
positive regulation of translation67.9×8e-03
protein folding95.4×5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance6
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

374 predictions. Top by Δscore:

VariantEffectΔscore
3:40310881:A:AGacceptor_gain1.0000
3:40310882:T:Gacceptor_gain1.0000
3:40310885:A:AGacceptor_gain1.0000
3:40310886:T:Gacceptor_gain1.0000
3:40310891:A:AGacceptor_gain1.0000
3:40310892:G:GGacceptor_gain1.0000
3:40311456:AT:Aacceptor_gain1.0000
3:40311457:T:TAacceptor_gain1.0000
3:40311460:A:AGacceptor_gain1.0000
3:40311461:C:Gacceptor_gain1.0000
3:40311464:TTCCA:Tacceptor_loss1.0000
3:40311465:TCCAG:Tacceptor_loss1.0000
3:40311466:CCAG:Cacceptor_loss1.0000
3:40311467:CAGAA:Cacceptor_loss1.0000
3:40311468:A:AGacceptor_gain1.0000
3:40311468:AGAAA:Aacceptor_loss1.0000
3:40311469:G:GTacceptor_gain1.0000
3:40311469:GA:Gacceptor_gain1.0000
3:40311469:GAA:Gacceptor_gain1.0000
3:40311469:GAAA:Gacceptor_gain1.0000
3:40311469:GAAAT:Gacceptor_gain1.0000
3:40311568:GGAG:Gdonor_gain1.0000
3:40311569:GAG:Gdonor_gain1.0000
3:40311569:GAGG:Gdonor_gain1.0000
3:40311570:AGGT:Adonor_loss1.0000
3:40311571:GGTG:Gdonor_loss1.0000
3:40311572:G:GGdonor_gain1.0000
3:40311573:T:Gdonor_loss1.0000
3:40310885:ATTC:Aacceptor_gain0.9900
3:40310888:C:Aacceptor_gain0.9900

AlphaMissense

751 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
3:40310962:G:CR34T1.000
3:40310963:A:CR34S1.000
3:40310963:A:TR34S1.000
3:40310972:A:CQ37H1.000
3:40310972:A:TQ37H1.000
3:40310974:G:CR38P1.000
3:40310980:G:AG40D1.000
3:40310983:G:CR41T1.000
3:40310983:G:TR41I1.000
3:40310984:A:CR41S1.000
3:40310984:A:TR41S1.000
3:40310985:A:GK42E1.000
3:40310987:G:CK42N1.000
3:40310987:G:TK42N1.000
3:40310992:T:CL44P1.000
3:40311001:T:AV47D1.000
3:40311051:A:GK64E1.000
3:40311053:A:CK64N1.000
3:40311053:A:TK64N1.000
3:40311480:G:AC69Y1.000
3:40311481:T:GC69W1.000
3:40311485:G:CG71R1.000
3:40311486:G:AG71D1.000
3:40311528:T:CL85P1.000
3:40311533:G:AG87S1.000
3:40311533:G:CG87R1.000
3:40311533:G:TG87C1.000
3:40311534:G:AG87D1.000
3:40311534:G:TG87V1.000
3:40311536:G:CD88H1.000

dbSNP variants (sampled 300 via entrez): RS1001009956 (3:40308614 T>C), RS1001519270 (3:40312166 T>C), RS1001629319 (3:40311308 C>A,T), RS1002083067 (3:40311669 G>A,C,T), RS1002086741 (3:40310114 C>A,T), RS1003351369 (3:40310201 C>A,G,T), RS1003710292 (3:40309967 C>T), RS1004026271 (3:40307998 A>G), RS1004975924 (3:40309214 C>G), RS1004980940 (3:40311738 T>C), RS1005273038 (3:40311290 T>C), RS1005338817 (3:40308517 A>G), RS1005438045 (3:40309448 T>C), RS1005557999 (3:40308195 A>G), RS1006137873 (3:40311824 T>A)

Disease associations

OMIM: gene `` | 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):

StudyTraitp-value
GCST010002_421Refractive error3.000000e-27

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Air Pollutantsdecreases expression, increases abundance, increases expression2
Cadmiumdecreases expression, increases abundance, increases expression2
Tretinoinincreases expression2
Valproic Acidincreases expression, decreases expression2
Cadmium Chlorideincreases abundance, increases expression, decreases expression2
Particulate Matterincreases abundance, increases expression, decreases expression2
triphenyl phosphateaffects expression1
bisphenol Aaffects expression1
arseniteaffects binding, increases reaction1
sodium arseniteincreases expression1
perfluorooctane sulfonic acidincreases expression1
CGP 52608affects binding, increases reaction1
chloropicrinaffects expression1
erucylphospho-N,N,N-trimethylpropylammoniumincreases expression1
abrineincreases expression1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)increases expression1
eprenetapoptaffects expression, affects reaction1
Air Pollutants, Occupationalincreases expression1
Benzo(a)pyreneincreases methylation1
Caffeineaffects phosphorylation1
Cisplatinincreases expression1
Dichlorodiphenyl Dichloroethylenedecreases expression1
Doxorubicindecreases expression1
Estradioldecreases expression1
Nickelincreases expression1
Phenobarbitalaffects expression1
Phthalic Acidsincreases methylation1
Rotenonedecreases expression1
Seleniumdecreases expression1
Theophyllinedecreases expression1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

CellosaurusNameCategorySex
CVCL_SL60HAP1 EIF1B (-) 1Cancer cell lineMale
CVCL_SL61HAP1 EIF1B (-) 2Cancer cell lineMale

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.