FIP1L1

FIP1-like 1
Identifiers
Symbol	?
NCBI gene	81608
HGNC	3700
OMIM	607023
RefSeq	NM_013374
UniProt	Q6UN15
Search for Structures Swiss-model Domains InterPro

FIP1-like 1 (FIP1L1) is a human gene that encodes a protein involved in pre-mRNA processing. It is located on chromosome 4q12 and is known for its role in the formation of a fusion gene with the platelet-derived growth factor receptor alpha (PDGFRA) gene, which is implicated in certain hematological malignancies.

Structure

The FIP1L1 gene is located on the long arm of chromosome 4 at position 12. It spans approximately 40 kilobases and consists of multiple exons. The protein encoded by FIP1L1 is involved in the polyadenylation of pre-mRNA, a critical step in mRNA maturation.

Function

FIP1L1 is a component of the cleavage and polyadenylation specificity factor (CPSF) complex, which is essential for the 3' end processing of pre-mRNA. This protein interacts with other components of the CPSF complex to facilitate the cleavage of pre-mRNA and the addition of a poly(A) tail, a modification that is crucial for mRNA stability, export from the nucleus, and translation.

Clinical Significance

The FIP1L1 gene is most notable for its involvement in a chromosomal rearrangement that results in the formation of the FIP1L1-PDGFRA fusion gene. This fusion gene is associated with a subset of patients with hypereosinophilic syndrome (HES) and chronic eosinophilic leukemia (CEL). The FIP1L1-PDGFRA fusion protein exhibits constitutive tyrosine kinase activity, which leads to uncontrolled cell proliferation and survival, contributing to the pathogenesis of these diseases.

Patients with the FIP1L1-PDGFRA fusion gene often respond well to treatment with imatinib, a tyrosine kinase inhibitor, which specifically targets the aberrant kinase activity of the fusion protein.

Research and Implications

Ongoing research is focused on understanding the broader role of FIP1L1 in mRNA processing and its potential involvement in other diseases. The study of FIP1L1 and its interactions within the CPSF complex may provide insights into the regulation of gene expression and the development of novel therapeutic strategies for diseases associated with mRNA processing defects.

Also see

• Hypereosinophilic syndrome
• Chronic eosinophilic leukemia
• PDGFRA
• Imatinib
• mRNA processing