FIP1L1
Summary: This gene encodes a subunit of the CPSF (cleavage and polyadenylation specificity factor) complex that polyadenylates the 3' end of mRNA precursors. This gene, the homolog of yeast Fip1 (factor interacting with PAP), binds to U-rich sequences of pre-mRNA and stimulates poly(A) polymerase activity. Its N-terminus contains a PAP-binding site and its C-terminus an RNA-binding domain. An interstitial chromosomal deletion on 4q12 creates an in-frame fusion of human genes FIP1L1 and PDGFRA (platelet-derived growth factor receptor, alpha). The FIP1L1-PDGFRA fusion gene encodes a constitutively activated tyrosine kinase that joins the first 233 amino acids of FIP1L1 to the last 523 amino acids of PDGFRA. This gene fusion and chromosomal deletion is the cause of some forms of idiopathic hypereosinophilic syndrome (HES). This syndrome, recently reclassified as chronic eosinophilic leukemia (CEL), is responsive to treatment with tyrosine kinase inhibitors. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| factor interacting with PAPOLA and CPSF1 | MIM:607686 | Ensembl:ENSG00000145216 | HGNC:HGNC:19124 | PA134875694 | 4q12 |
Gene Categories:
CLINICALLY ACTIONABLEGO terms in FIP1L1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | HDA | GO:0003723 | RNA binding |
| MF | IBA | GO:0003723 | RNA binding |
| MF | IPI | GO:0005515 | protein binding |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IBA | GO:0005847 | mRNA cleavage and polyadenylation specificity factor complex |
| BP | TAS | GO:0000398 | mRNA splicing, via spliceosome |
| BP | TAS | GO:0006369 | termination of RNA polymerase II transcription |
| BP | IBA | GO:0006378 | mRNA polyadenylation |
| BP | TAS | GO:0006406 | mRNA export from nucleus |
| BP | TAS | GO:0031124 | mRNA 3'-end processing |
| BP | IBA | GO:0098789 | pre-mRNA cleavage required for polyadenylation |
Gene expression in normal tissue: FIP1L1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in FIP1L1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa03015 | mRNA surveillance pathway - Homo sapiens (human) |
| reactome | R-HSA-109688 | Cleavage of Growing Transcript in the Termination Region |
| reactome | R-HSA-159231 | Transport of Mature mRNA Derived from an Intronless Transcript |
| reactome | R-HSA-159234 | Transport of Mature mRNAs Derived from Intronless Transcripts |
| reactome | R-HSA-72163 | mRNA Splicing - Major Pathway |
| reactome | R-HSA-72172 | mRNA Splicing |
| reactome | R-HSA-72187 | mRNA 3'-end processing |
| reactome | R-HSA-72202 | Transport of Mature Transcript to Cytoplasm |
| reactome | R-HSA-72203 | Processing of Capped Intron-Containing Pre-mRNA |
| reactome | R-HSA-73856 | RNA Polymerase II Transcription Termination |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-75067 | Processing of Capped Intronless Pre-mRNA |
| reactome | R-HSA-77595 | Processing of Intronless Pre-mRNAs |
| reactome | R-HSA-8953854 | Metabolism of RNA |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD57 | Chloropentafluorobenzene | 3 |
| iGMDRD229 | B02 | 3 |
| iGMDRD367 | Ro 28-1675 | 3 |
| iGMDRD71 | Sparfosic acid | 3 |
| iGMDRD231 | Importazole | 3 |
| iGMDRD560 | MK-2206 | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in FIP1L1
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