|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “FIP1 like 1 (S. cerevisiae).”
FIP1L1 is the gene's official symbol. The FIP1L1 gene is also known by other names, listed below.
The FIP1L1 gene provides instructions for making part of a protein complex named cleavage and polyadenylation specificity factor (CPSF). This complex of proteins plays an important role in processing molecules called messenger RNAs (mRNAs), which serve as the genetic blueprints for making proteins. The CPSF protein complex helps add a string of the RNA building block adenine to the mRNA, creating a polyadenine tail or poly(A) tail. The poly(A) tail is important for stability of the mRNA and for protein production from the blueprint.
A deletion of genetic material from chromosome 4 brings together part of the FIP1L1 gene and part of another gene called PDGFRA, creating the FIP1L1-PDGFRA fusion gene. This mutation is a somatic mutation, which means it is acquired during a person's lifetime and is present only in certain cells. This fusion gene causes PDGFRA-associated chronic eosinophilic leukemia, which is a type of blood cell cancer characterized by an increased number of eosinophils, a type of white blood cell involved in allergic reactions.
The FIP1L1-PDGFRA protein produced from the fusion gene has the function of the normal PDGFRA protein, which stimulates signaling pathways inside the cell that control many important cellular processes, such as cell growth and division (proliferation) and cell survival. Unlike the normal PDGFRA protein, however, the FIP1L1-PDGFRA protein is constantly turned on (constitutively activated), which means the cells are always receiving signals to proliferate. When the FIP1L1-PDGFRA fusion gene occurs in blood cell precursors, the growth of eosinophils (and occasionally other blood cells) is poorly controlled, leading to PDGFRA-associated chronic eosinophilic leukemia. It is unclear why eosinophils are preferentially affected by this genetic change.
Cytogenetic Location: 4q12
Molecular Location on chromosome 4: base pairs 53,377,638 to 53,459,935
The FIP1L1 gene is located on the long (q) arm of chromosome 4 at position 12.
More precisely, the FIP1L1 gene is located from base pair 53,377,638 to base pair 53,459,935 on chromosome 4.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about FIP1L1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
adenine ; biomarker ; cancer ; cell ; chromosome ; chronic ; deletion ; eosinophils ; fusion gene ; gene ; leukemia ; mRNA ; mutation ; pharmacogenetics ; polyadenylation ; proliferate ; proliferation ; protein ; RNA ; somatic mutation ; specificity
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.