The gene information section lists the gene name (HUGO Gene Nomenclature Committee (HGNC) name if available), any approved gene synonyms, Ensembl gene description, and the Entrez gene summary from the National Center for Biotechnology Information.
The chromosomal and cytoband location of the gene according to Ensembl is reported together with the Ensembl gene identifier and Ensembl database version. The Entrez gene identifier for the gene is also given. If any of the protein products of the gene is linked to a UniProt KB/SWISS-PROT entry, links to the UniProt and the neXtProt databases for these proteins are displayed.
Gene name
FIP1L1 (HGNC Symbol)
Synonyms
DKFZp586K0717
Description
FIP1 like 1 (S. cerevisiae) (HGNC Symbol)
Entrez gene 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]
The protein view displays protein features. The tabs at the top of the protein view section can be used to switch between the different splice variants encoded by this gene. The mouse over function displays additional data for the features in the protein view.
At the top of the protein view, the maximum percent sequence identity of the protein to all other proteins from other human genes is shown, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50) (read more).
If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0 and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.
Common (purple) and unique (grey) regions between alternative processed transcripts from the same gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
The protein information section displays the alternative protein-coding transcripts (splice variants) encoded by this gene, according to the Ensembl database.
The ENSP identifier links to the Ensembl website for that protein, and the ENST identifier links to the Ensembl website for that transcript. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes to which this protein has been assigned are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column.
The length of the protein (amino acid residues) (according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0 and Phobius and predicted transmembrane region(s) (according to MDM) are also reported.
