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FIP1L1 - FIP1 like 1 (S. cerevisiae)
Canonical
Pathway
Entrez Gene Name: FIP1 like 1 (S. cerevisiae)
Entrez GeneID: Human(81608)
, Mouse(66899), Rat(289582)
, Mouse(66899), Rat(289582) Synonyms: 1300019H17RIK, 1300019h17Riken, DKFZp586K0717, FIP1L1, FLJ33619, hFip1, MGC93674, Rhe, Rje
Gene Summary
- Human (81608): 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]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Literature References
- 17440089Buitenhuis M, Verhagen LP, Cools J, Coffer PJ. Molecular Mechanisms Underlying FIP1L1-PDGFRA-Mediated Myeloproliferation.Cancer Res 2007 Apr 15;67(8):3759-66
- 16189514Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M. Towards a proteome-scale map of the human protein-protein interaction network.Nature 2005 10 20;437(7062):1173-8
- 17554300Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.Nature 2007 06 7;447(7145):661-78