FIP1L1 Gene
FIP1 Like 1 (S. cerevisiae)
Gene Information Card
| Symbol | FIP1L1 |
|---|---|
| Full Name | FIP1 Like 1 (S. cerevisiae) |
| Gene Type | Protein coding |
| Chromosomal Location | 4q12 |
| NCBI Gene ID | 81608 ncbi.nlm.nih.gov/gene/81608 |
| Ensembl ID | ENSG00000145287 |
| UniProt ID | Q6UN15 |
| OMIM ID | 607686 |
| HGNC ID | 19124 |
| Aliases | FIP1, Rbm, FIP1L, FIP1L1 |
Description
FIP1L1 encodes a protein component of the cleavage and polyadenylation specificity factor (CPSF) complex, involved in pre-mRNA 3' end processing. The gene is located on chromosome 4q12 and is frequently involved in a recurrent chromosomal rearrangement with PDGFRA, resulting in the FIP1L1-PDGFRA fusion gene, which is a driver in hypereosinophilic syndrome and some myeloid neoplasms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypereosinophilic Syndrome (HES) | FIP1L1-PDGFRA fusion leads to constitutive activation of PDGFRA tyrosine kinase, driving eosinophil proliferation | ClinVar, OMIM |
| Chronic Eosinophilic Leukemia (CEL) | Same fusion mechanism as HES; classified as a myeloid neoplasm | ClinVar, OMIM |
| Acute Myeloid Leukemia (AML) | Rarely, FIP1L1 rearrangements with other partners (e.g., FGFR1) | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Lung | 6.1 | Low |
| Testis | 4.7 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.2 | Moderate expression |
| HEK293 (embryonic kidney) | 9.8 | Low expression |
| HeLa (cervical) | 7.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| FIP1L1-PDGFRA fusion | Gene fusion | ~10-20% of HES/CEL | Constitutive PDGFRA kinase activation |
| FIP1L1-FGFR1 fusion | Gene fusion | Rare | Constitutive FGFR1 activation |
Mutation functional classification
Loss of Function (LOF)
Not reported; FIP1L1 loss-of-function is not associated with disease.
Gain of Function (GOF)
FIP1L1-PDGFRA fusion results in gain-of-function of PDGFRA kinase.
Dominant Negative (DN)
Not described for FIP1L1.
View complete mutation data：
Gene Ontology (GO)
| • mRNA 3'-end processing | • cleavage and polyadenylation specificity factor complex |
| • RNA binding | • nucleus |
Pathways
• mRNA 3'-end processing (CPSF complex)
• PDGFRA signaling (via fusion)
Protein Summary
FIP1L1 protein is a 594-amino acid component of the CPSF complex, essential for polyadenylation of pre-mRNA. It contains a RNA recognition motif and interacts with other CPSF subunits. The protein is ubiquitously expressed at low levels. Pathogenic fusions with PDGFRA or FGFR1 create constitutively active tyrosine kinases, driving eosinophilic and myeloid neoplasms.
Related Services
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