Factor interacting with
PAPOLA and
CPSF1
Cleavage and polyadenylation specificity factor subunit 1 is a protein that in humans is encoded by the ''CPSF1'' gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a seque ...
(i.e, FIP1L1; also termed Pre-mRNA 3'-end-processing factor FIP1) is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''FIP1L1''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
(also known as Rhe, FIP1, and hFip1).
A medically important aspect of the ''FIP1L1'' gene is its fusion with other genes to form
fusion gene
In genetics, a fusion gene is a hybrid gene formed from two previously independent genes. It can occur as a result of translocation, interstitial deletion, or chromosomal inversion. Fusion genes have been found to be prevalent in all main types ...
s which cause
clonal hypereosinophilia
Clonal hypereosinophilia, also termed primary hypereosinophilia or clonal eosinophilia, is a grouping of hematological disorders all of which are characterized by the cell growth, development and growth of a pre-malignant or malignant population of ...
and
leukemic diseases in humans.
Gene
The human ''FIP1L1'' gene is located on chromosome 4 at position q12 (4q12), contains 19
exons
An exon is any part of a gene that will form a part of the final mature RNA produced by that gene after introns have been removed by RNA splicing. The term ''exon'' refers to both the DNA sequence within a gene and to the corresponding sequence i ...
, and codes for a complete protein consisting of 594
amino acid
Amino acids are organic compounds that contain both amino and carboxylic acid functional groups. Although over 500 amino acids exist in nature, by far the most important are the 22 α-amino acids incorporated into proteins. Only these 22 a ...
s. However,
alternative splicing
Alternative splicing, alternative RNA splicing, or differential splicing, is an alternative RNA splicing, splicing process during gene expression that allows a single gene to produce different splice variants. For example, some exons of a gene ma ...
of its
precursor mRNA
Precursor or Precursors may refer to:
*Precursor (religion), a forerunner, predecessor
** The Precursor, John the Baptist
Science and technology
* Precursor (bird), hypothesized genus of fossil birds that was composed of fossilized parts of unrel ...
results in multiple transcript variants encoding distinct FIP1L1 protein
isoform
A protein isoform, or "protein variant", is a member of a set of highly similar proteins that originate from a single gene and are the result of genetic differences. While many perform the same or similar biological roles, some isoforms have uniqu ...
s. The ''FIP1L1'' gene is found in a wide range of species, being designated as FIP1 in ''
Saccharomyces cerevisiae
''Saccharomyces cerevisiae'' () (brewer's yeast or baker's yeast) is a species of yeast (single-celled fungal microorganisms). The species has been instrumental in winemaking, baking, and brewing since ancient times. It is believed to have be ...
'' (yeast) and fip1l1 in
coho salmon
The coho salmon (''Oncorhynchus kisutch;'' Karuk: achvuun) is a species of anadromous fish in the salmon family (biology), family and one of the five Pacific salmon species. Coho salmon are also known as silver salmon (or "silvers") and is often ...
as well as mice and numerous other mammalian species.
In humans, an interstitial chromosomal
deletion of about 800
kilobases at 4q12 deletes the ''CHIC2'' gene (i.e.cysteine rich hydrophobic domain 2 gene) to create an
in-frame fusion of the ''FIP1L1'' gene with the
platelet-derived growth factor receptor alpha gene (''PGDFRA'') gene. The product of ''PDGFRA'', platelet-derived growth factor receptor alpha (PDGFRA), is a
tyrosine kinase receptor of the
RTK class III. When bound by its proper ligand,
platelet-derived growth factor
Platelet-derived growth factor (PDGF) is one among numerous growth factors that regulate cell growth and division. In particular, PDGF plays a significant role in blood vessel formation, the growth of blood vessels from already-existing bloo ...
(PDGF), it
tyrosine kinase
A tyrosine kinase is an enzyme that can transfer a phosphate group from ATP to the tyrosine residues of specific proteins inside a cell. It functions as an "on" or "off" switch in many cellular functions.
Tyrosine kinases belong to a larger cla ...
becomes active in phosphorylating proteins that, among other functions, promote cell growth and proliferation. (The ''FIP1L1-PDGFRA'' mutation was the first description of a
gain of function mutation resulting from an