Human Gene FIP1L1 (ENST00000337488.11) from GENCODE V44
Description: Homo sapiens factor interacting with PAPOLA and CPSF1 (FIP1L1), transcript variant 1, mRNA. (from RefSeq NM_030917) RefSeq Summary (NM_030917): 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]. Sequence Note: The RefSeq transcript and protein were derived from transcript and genomic sequence to make the sequence consistent with the reference genome assembly. The extent of this transcript is supported by transcript alignments. Gencode Transcript: ENST00000337488.11 Gencode Gene: ENSG00000145216.17 Transcript (Including UTRs) Position: hg38 chr4:53,377,641-53,460,862 Size: 83,222 Total Exon Count: 18 Strand: + Coding Region Position: hg38 chr4:53,377,839-53,459,449 Size: 81,611 Coding Exon Count: 18
ID:FIP1_HUMAN DESCRIPTION: RecName: Full=Pre-mRNA 3'-end-processing factor FIP1; Short=hFip1; AltName: Full=FIP1-like 1 protein; AltName: Full=Factor interacting with PAP; AltName: Full=Rearranged in hypereosinophilia; FUNCTION: 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. SUBUNIT: Component of the cleavage and polyadenylation specificity factor (CPSF) complex, composed of CPSF1, CPSF2, CPSF3, CPSF4 and FIP1L1. Found in a complex with CPSF1, FIP1L1 and PAPOLA. Interacts with CPSF1, CPSF4, CSTF2, CSTF3 and PAPOLA. SUBCELLULAR LOCATION: Nucleus. DISEASE: Note=A chromosomal aberration involving FIP1L1 is found in some cases of hypereosinophilic syndrome. Interstitial chromosomal deletion del(4)(q12q12) causes the fusion of FIP1L1 and PDGFRA (FIP1L1-PDGFRA). SIMILARITY: Belongs to the FIP1 family. SEQUENCE CAUTION: Sequence=AAH24016.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=AAH52959.1; Type=Miscellaneous discrepancy; Note=Intron retention;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q6UN15
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Protein Q6UN15 (Reactome details) participates in the following event(s):
R-HSA-72231 Cleavage and Polyadenylation R-HSA-77589 Recognition of AAUAAA sequence by CPSF R-HSA-72185 mRNA polyadenylation R-HSA-77594 Docking of the Mature intronless derived transcript derived mRNA, TAP and Aly/Ref at the NPC R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex R-HSA-72180 Cleavage of mRNA at the 3'-end R-HSA-77590 Recruitment of CstF to the CPSF Bound Pre-mRNA R-HSA-77592 Cleavage of Intronless Pre-mRNA at 3'-end R-HSA-77593 Cleavage and polyadenylation of Intronless Pre-mRNA R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage R-HSA-72139 Formation of the active Spliceosomal C (B*) complex R-HSA-8849157 TREX complex binds spliced, capped mRNA:CBC:EJC cotranscriptionally R-HSA-156661 Formation of Exon Junction Complex R-HSA-77591 Binding of Cleavage factors and Poly(A)Polymerase to the CstF:CPSF:Pre-mRNA Complex R-HSA-72163 mRNA Splicing - Major Pathway R-HSA-77595 Processing of Intronless Pre-mRNAs R-HSA-72187 mRNA 3'-end processing R-HSA-159231 Transport of Mature mRNA Derived from an Intronless Transcript R-HSA-109688 Cleavage of Growing Transcript in the Termination Region R-HSA-72172 mRNA Splicing R-HSA-75067 Processing of Capped Intronless Pre-mRNA R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA R-HSA-159234 Transport of Mature mRNAs Derived from Intronless Transcripts R-HSA-73856 RNA Polymerase II Transcription Termination R-HSA-8953854 Metabolism of RNA R-HSA-72202 Transport of Mature Transcript to Cytoplasm R-HSA-73857 RNA Polymerase II Transcription R-HSA-74160 Gene expression (Transcription)
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