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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PABPC1
poly(A) binding protein cytoplasmic 1
Chromosome 8 Β· 8q22.3
NCBI Gene: 26986Ensembl: ENSG00000070756.18HGNC: HGNC:8554UniProt: P11940
531PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Highly StudiedTrending
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytoplasmic ribonucleoprotein granulecatalytic step 2 spliceosomeribonucleoprotein complexmRNA 3'-UTR bindingIntellectual disabilityGlobal developmental delayExpressive language delayAtypical behavior
✦AI Summary

PABPC1 (poly(A) binding protein cytoplasmic 1) is a cytoplasmic RNA-binding protein that primarily functions in mRNA metabolism and translational control. PABPC1 binds to poly(A) tails at the 3' end of mRNAs and promotes mRNA stabilization and translation initiation through interactions with translation initiation factors, particularly eIF4G 12. The protein forms biomolecular condensates that selectively enhance translation of mRNAs with structured 5' untranslated regions 3. PABPC1 also participates in m6A-dependent mRNA metabolism by recruiting to methylated transcripts through interactions with m6A readers like YTHDF2 and IGF2BP1, thereby promoting mRNA stability and preventing deadenylation 45. Additionally, PABPC1 associates with LINE-1 retrotransposition machinery, suggesting roles in regulating transposon activity 6. Clinically, PABPC1 overexpression drives multiple malignancies including B cell lymphomas, acute myeloid leukemia, and chr8 myeloid leukemia blast crisis by enhancing oncoprotein synthesis 13. PABPC1 also facilitates exosome-mediated communication in lung cancer metastasis 2. Genetic and pharmacological inhibition of PABPC1 suppresses cancer progression and overcomes therapeutic resistance, highlighting its potential as a therapeutic target.

Sources cited
1
PABPC1 recruited by YTHDF2 as m5C reader to stabilize mRNAs and enhance ATP synthesis in B cell malignancies
PMID: 39694037
2
PABPC1 recruited by IGF2BP1 to stabilize m6A-modified ETV4 mRNA and inhibit deadenylation in liver fibrosis
PMID: 39914744
3
PABPC1 identified as binding partner on LINE-1 ORF2p with predicted role in regulating retrotransposition
PMID: 40048554
4
APPLE micropeptide promotes PABPC1-eIF4G interaction to facilitate mRNA circularization and enhance translation in AML
PMID: 34555354
5
PRRC2A interacts with PABPC1 to regulate mRNA metabolism and translation efficiency during spermatogenesis
PMID: 36964127
6
Exosomal circPLEKHM1 promotes PABPC1-eIF4G interaction to enhance OSMR translation and macrophage polarization in lung cancer
PMID: 38509870
7
FMRP associates with PABPC1 and cap-bound eIF4E to sequester mRNA targets from translation initiation
PMID: 40645180
8
PABPC1 forms biomolecular condensates to selectively enhance translation of leukaemogenic mRNAs in CML blast crisis
PMID: 40102686
Disease Associationsβ“˜20
Intellectual disabilityOpen Targets
0.53Moderate
Global developmental delayOpen Targets
0.47Moderate
Atypical behaviorOpen Targets
0.46Moderate
Expressive language delayOpen Targets
0.46Moderate
SeizureOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
hepatocellular carcinomaOpen Targets
0.42Moderate
multiple myelomaOpen Targets
0.42Moderate
dengue diseaseOpen Targets
0.38Weak
Pulmonary artery atresiaOpen Targets
0.33Weak
diffuse large B-cell lymphomaOpen Targets
0.26Weak
differentiated thyroid carcinomaOpen Targets
0.22Weak
mathematical abilityOpen Targets
0.22Weak
squamous cell lung carcinomaOpen Targets
0.22Weak
esophageal squamous cell carcinomaOpen Targets
0.21Weak
urinary bladder carcinomaOpen Targets
0.19Weak
adrenal cortex carcinomaOpen Targets
0.19Weak
gastric carcinomaOpen Targets
0.19Weak
melanomaOpen Targets
0.19Weak
acute myeloid leukemiaOpen Targets
0.19Weak
Pathogenic Variants2
NM_002568.4(PABPC1):c.134A>G (p.Asp45Gly)Likely pathogenic
Intellectual disability
β˜…β˜†β˜†β˜†2024β†’ Residue 45
NM_002568.4(PABPC1):c.1685T>C (p.Leu562Ser)Pathogenic
Pulmonary artery atresia
β˜†β˜†β˜†β˜†β†’ Residue 562
View on ClinVar β†—
Related Genes
MKNK1Protein interaction100%GSPT2Protein interaction100%TNRC6AProtein interaction100%LARP4Protein interaction99%PAIP2Protein interaction99%PAN3Protein interaction96%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
75%
Lung
58%
Brain
50%
Liver
31%
Heart
23%
Gene Interaction Network
Click a node to explore
PABPC1MKNK1GSPT2TNRC6ALARP4PAIP2PAN3
PROTEIN STRUCTURE
Preparing viewer…
PDB3KUJ Β· 1.40 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.12Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.04 [0.01–0.12]
RankingsWhere PABPC1 stands among ~20K protein-coding genes
  • #479of 20,598
    Most Researched531 Β· top 5%
  • #4,193of 5,498
    Most Pathogenic Variants2
  • #109of 17,882
    Most Constrained (LOEUF)0.12 Β· top 1%
Genes detectedPABPC1
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
YTHDF2 promotes ATP synthesis and immune evasion in B cell malignancies.
PMID: 39694037
Cell Β· 2025
1.00
2
Hyodeoxycholic acid ameliorates cholestatic liver fibrosis by facilitating m
PMID: 39914744
J Hepatol Β· 2025
0.90
3
KLHL21 suppresses gastric tumourigenesis via maintaining STAT3 signalling equilibrium in stomach homoeostasis.
PMID: 38969490
Gut Β· 2024
0.84
4
Multi-omics analysis for identifying cell-type-specific and bulk-level druggable targets in Alzheimer's disease.
PMID: 40653482
J Transl Med Β· 2025
0.82
5
Structural mechanism of LINE-1 target-primed reverse transcription.
PMID: 40048554
Science Β· 2025
0.80