Aliases for FIP1L1 Gene
External Ids for FIP1L1 Gene
Previous GeneCards Identifiers for FIP1L1 Gene
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]
GeneCards Summary for FIP1L1 Gene
FIP1L1 (Factor Interacting With PAPOLA And CPSF1) is a Protein Coding gene. Diseases associated with FIP1L1 include Chronic Eosinophilic Leukemia and Primary Hypereosinophilic Syndrome. Among its related pathways are Transport of the SLBP independent Mature mRNA and Processing of Capped Intronless Pre-mRNA. GO annotations related to this gene include poly(A) RNA binding and protein kinase activity. An important paralog of this gene is ENSG00000282278.
UniProtKB/Swiss-Prot for FIP1L1 Gene
Component of the cleavage and polyadenylation specificity factor (CPSF) complex that plays a key role in pre-mRNA 3-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. FIP1L1 contributes to poly(A) site recognition and stimulates poly(A) addition. Binds to U-rich RNA sequence elements surrounding the poly(A) site. May act to tether poly(A) polymerase to the CPSF complex.