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27 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FIP1L1
factor interacting with PAPOLA and CPSF1
Chromosome 4 · 4q12
NCBI Gene: 81608Ensembl: ENSG00000145216.17HGNC: HGNC:19124UniProt: A0A994J3I9
187PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mRNA 3'-end processingprotein bindingRNA bindingnucleoplasmAbnormality of the skeletal systemcancerdengue diseasebenign neoplasm of pituitary gland
✦AI Summary

FIP1L1 is a core component of the cleavage and polyadenylation specificity factor (CPSF) complex that mediates pre-mRNA 3'-end formation through recognition of the AAUAAA signal sequence and U-rich RNA elements flanking the poly(A) site. The protein facilitates interactions between poly(A) polymerase and other CPSF complex members, thereby stimulating poly(A) addition and mRNA cleavage at the 3' end. Beyond its canonical role in mRNA processing, FIP1L1 has significant disease relevance as a fusion partner with PDGFRA. The FIP1L1-PDGFRA fusion gene, generated by interstitial chr4 deletion on 4q12, is a pathogenic driver of hypereosinophilic syndrome (HES) and chr4 eosinophilic leukemia (CEL) 12. This fusion creates a constitutively active tyrosine kinase that promotes clonal hematopoietic stem cell expansion with eosinophilic differentiation, often accompanied by systemic mastocytosis and multi-organ eosinophil infiltration 2. Clinically, FIP1L1-PDGFRA-positive HES represents an important disease subtype with profound therapeutic implications. Patients with this fusion demonstrate exceptional responsiveness to imatinib mesylate (88% efficacy), a tyrosine kinase inhibitor, compared to only 23% response in FIP1L1-PDGFRA-negative HES patients 3. Recognition of FIP1L1-PDGFRA status is therefore essential for appropriate patient stratification and personalized treatment selection 4.

Sources cited
1
FIP1L1-PDGFRA fusion generated by interstitial chromosomal deletion on 4q12 is a pathogenic cause of hypereosinophilic syndrome
PMID: 17848188
2
FIP1L1-PDGFRA fusion drives clonal hypereosinophilia with multi-organ eosinophil infiltration and systemic mastocytosis
PMID: 20523072
3
Imatinib shows 88% efficacy in FIP1L1-PDGFRA-positive HES patients versus 23% in negative patients
PMID: 19910029
4
FIP1L1-PDGFRA fusion identification is crucial for disease classification and personalized therapeutic management of hypereosinophilia
PMID: 40396537
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.47Moderate
cancerOpen Targets
0.47Moderate
dengue diseaseOpen Targets
0.37Weak
benign neoplasm of pituitary glandOpen Targets
0.30Weak
response to stimulusOpen Targets
0.26Weak
sialolithiasisOpen Targets
0.26Weak
open-angle glaucomaOpen Targets
0.20Weak
acute myeloid leukemiaOpen Targets
0.19Weak
lymphoid neoplasmOpen Targets
0.19Weak
lung adenocarcinomaOpen Targets
0.19Weak
urinary bladder carcinomaOpen Targets
0.19Weak
hepatocellular carcinomaOpen Targets
0.19Weak
esophageal squamous cell carcinomaOpen Targets
0.19Weak
multiple myelomaOpen Targets
0.19Weak
T-cell acute lymphoblastic leukemiaOpen Targets
0.19Weak
desmoplastic melanomaOpen Targets
0.18Weak
esophageal adenocarcinomaOpen Targets
0.18Weak
gastric adenocarcinomaOpen Targets
0.18Weak
gastroesophageal junction adenocarcinomaOpen Targets
0.18Weak
kidney neoplasmOpen Targets
0.18Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KIAA1614Protein interaction100%PDGFRBProtein interaction99%CSTF2Protein interaction99%RBBP6Protein interaction99%PABPN1Protein interaction99%PAPOLAProtein interaction99%
Tissue Expression6 tissues
Brain
100%
Ovary
90%
Lung
68%
Bone Marrow
59%
Liver
50%
Heart
44%
Gene Interaction Network
Click a node to explore
FIP1L1KIAA1614PDGFRBCSTF2RBBP6PABPN1PAPOLA
PROTEIN STRUCTURE
Preparing viewer…
PDB7K95 · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.38Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.23 [0.14–0.38]
RankingsWhere FIP1L1 stands among ~20K protein-coding genes
  • #2,293of 20,598
    Most Researched187 · top quartile
  • #1,805of 17,882
    Most Constrained (LOEUF)0.38 · top quartile
Genes detectedFIP1L1
Sources retrieved27 papers
Response time—
📄 Sources
27▼
1
Hypereosinophilic Syndrome.
PMID: 26475367
Clin Rev Allergy Immunol · 2016
1.00
2
Hypereosinophilia: clinical and therapeutic approach in 2025.
PMID: 40396537
Curr Opin Allergy Clin Immunol · 2025
0.90
3
Genotypic and Phenotypic Characteristics of Acute Promyelocytic Leukemia Translocation Variants.
PMID: 32473106
Hematol Oncol Stem Cell Ther · 2020
0.80
4
Development and Validation of the FIP Score for the Screening of FIP1L1::PDGFRA-Associated Hypereosinophilic Syndrome.
PMID: 40992688
J Allergy Clin Immunol Pract · 2025
0.76
5
[Hypereosinophilic syndromes].
PMID: 32233322
Rev Prat · 2019
0.72