Homo sapiens FIP1 like 1 (S. cerevisiae) (FIP1L1), transcript variant 3, mRNA.
| RefSeq Version | NM_001134938.1, 201023340 |
| Length | 2236 bp |
| Structure | linear |
| Update Date | 12-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens FIP1 like 1 (S. cerevisiae) (FIP1L1), transcript variant 3, mRNA. |
| Product | pre-mRNA 3'-end-processing factor FIP1 isoform 3 |
| Comment | 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]. Transcript Variant: This variant (3) lacks multiple in-frame exons in the 5' coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1. 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. |
| RefSeq | NP_001128410.1 |
| CDS | 187..1749 | Exon (1) | 1..271 | Exon (2) | 1..271 | Exon (3) | 272..311 | Exon (4) | 312..369 | Exon (5) | 370..473 | Exon (6) | 474..538 | Exon (7) | 539..646 | Exon (8) | 647..777 | Exon (9) | 778..887 | Exon (10) | 888..981 | Exon (11) | 982..1138 | Exon (12) | 1139..1193 | Exon (13) | 1194..1249 | Exon (14) | 1250..1463 | Exon (15) | 1464..1601 | Exon (16) | 1602..2236 |
| Translation | MSAGEVERLVSELSGGTGGDEEEEWLYGDENEVERPEEENASANPPSGIEDETAENGVPK
PKVTETEDDSDSDSDDDEDDVHVTIGDIKTGAPQYGSYGTAPVNLNIKTGGRVYGTTGTK
VKGVDLDAPGSINGVPLLEVDLDSFEDKPWRKPGADLSDYFNYGFNEDTWKAYCEKQKRI
RMGLEVIPVTSTTNKITVQQGRTGNSEKETALPSTKAEFTSPPSLFKTGLPPSRRLPGAI
DVIGQTITISRVEGRRRANENSNIQVLSERSATEVDNNFSKPPPFFPPGAPPTHLPPPPF
LPPPPTVSTAPPLIPPPGFPPPPGAPPPSLIPTIESGHSSGYDSRSARAFPYGNVAFPHL
PGSAPSWPSLVDTSKQWDYYARREKDRDRERDRDRERDRDRDRERERTRERERERDHSPT
PSVFNSDEERYRYREYAERGYERHRASREKEERHRERRHREKEETRHKSSRSNSRRRHES
EEGDSHRRHKHKKSKRSKEGKEAGSEPAPEQESTEATPAE
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| Position | Chain | Variation | Link |
| 86 | + | c, t | dbSNP:3811782 |
| 973 | + | a, g | dbSNP:112568587 |
| 1092 | + | a, c | dbSNP:79276443 |
| 1095 | + | c, t | dbSNP:78729085 |
| 1140 | + | , t | dbSNP:34147078 |
| 1284 | + | a, g | dbSNP:112870891 |
| 1326 | + | c, t | dbSNP:112251209 |
| 1568..1569 | + | a, g | dbSNP:11543418 |
| 1649 | + | a, g | dbSNP:15887 |
| 1713 | + | c, t | dbSNP:113411128 |
| 2123 | + | c, t | dbSNP:1014056 |
| 2221 | + | c, t | dbSNP:112778100 |
| Gene Symbol | FIP1L1 |
| Gene Synonym | DKFZp586K0717; FLJ33619; hFip1; Rhe |
| Chromosome | 4 |
| Locus Map | 4q12 |
| All Transcripts | NM_001134938 , NM_030917 , NM_001134937 |
| Title | Validation of a new three-color fluorescence in situ hybridization (FISH) method to detect CHIC2 deletion, FIP1L1/PDGFRA fusion and . |
| Author | Fink,S.R., Belongie,K.J., Paternoster,S.F., Smoley,S.A., Pardanani,A.D., Tefferi,A., Van Dyke,D.L. and Ketterling,R.P. |
| Journal | Leuk. Res. 33 (6), 843-846 (2009) |
| Title | The molecular anatomy of the FIP1L1-PDGFRA fusion gene . |
| Author | Walz,C., Score,J., Mix,J., Cilloni,D., Roche-Lestienne,C., Yeh,R.F., Wiemels,J.L., Ottaviani,E., Erben,P., Hochhaus,A., Baccarani,M., Grimwade,D., Preudhomme,C., Apperley,J., Martinelli,G., Saglio,G., Cross,N.C. and Reiter,A. |
| Journal | Leukemia 23 (2), 271-278 (2009) |
| Title | FIP1L1-PDGFRalpha alone or with other genetic abnormalities reveals disease progression in chronic eosinophilic leukemia but good response to imatinib . |
| Author | Wang,L.N., Pan,Q., Fu,J.F., Shi,J.Y., Jin,J., Li,J.M., Hu,J., Zhao,W.L., Chen,Z. and Chen,S.J. |
| Journal | Chin. Med. J. 121 (10), 867-873 (2008) |
| Title | A case of FIP1L1-PDGFRA-positive chronic eosinophilic leukemia with a rare FIP1L1 breakpoint . |
| Author | Lambert,F., Heimann,P., Herens,C., Chariot,A. and Bours,V. |
| Journal | J Mol Diagn 9 (3), 414-419 (2007) |
| Title | Recurrent finding of the FIP1L1-PDGFRA fusion gene in eosinophilia-associated acute myeloid leukemia and lymphoblastic T-cell lymphoma . |
| Author | Metzgeroth,G., Walz,C., Score,J., Siebert,R., Schnittger,S., Haferlach,C., Popp,H., Haferlach,T., Erben,P., Mix,J., Muller,M.C., Beneke,H., Muller,L., Del Valle,F., Aulitzky,W.E., Wittkowsky,G., Schmitz,N., Schulte,C., Muller-Hermelink,K., Hodges,E., Whittaker,S.J., Diecker,F., Dohner,H., Schuld,P., Hehlmann,R., Hochhaus,A., Cross,N.C. and Reiter,A. |
| Journal | Leukemia 21 (6), 1183-1188 (2007) |
| Title | The EOL-1 cell line as an in vitro model for the study of FIP1L1-PDGFRA-positive chronic eosinophilic leukemia . |
| Author | Cools,J., Quentmeier,H., Huntly,B.J., Marynen,P., Griffin,J.D., Drexler,H.G. and Gilliland,D.G. |
| Journal | Blood 103 (7), 2802-2805 (2004) |
| Title | Human Fip1 is a subunit of CPSF that binds to U-rich RNA elements and stimulates poly(A) polymerase . |
| Author | Kaufmann,I., Martin,G., Friedlein,A., Langen,H. and Keller,W. |
| Journal | EMBO J. 23 (3), 616-626 (2004) |
| Title | CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in systemic mastocytosis associated with eosinophilia and predicts response to imatinib mesylate therapy . |
| Author | Pardanani,A., Ketterling,R.P., Brockman,S.R., Flynn,H.C., Paternoster,S.F., Shearer,B.M., Reeder,T.L., Li,C.Y., Cross,N.C., Cools,J., Gilliland,D.G., Dewald,G.W. and Tefferi,A. |
| Journal | Blood 102 (9), 3093-3096 (2003) |
| Title | Discovery of a fusion kinase in EOL-1 cells and idiopathic hypereosinophilic syndrome . |
| Author | Griffin,J.H., Leung,J., Bruner,R.J., Caligiuri,M.A. and Briesewitz,R. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 100 (13), 7830-7835 (2003) |
| Title | A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome . |
| Author | Cools,J., DeAngelo,D.J., Gotlib,J., Stover,E.H., Legare,R.D., Cortes,J., Kutok,J., Clark,J., Galinsky,I., Griffin,J.D., Cross,N.C., Tefferi,A., Malone,J., Alam,R., Schrier,S.L., Schmid,J., Rose,M., Vandenberghe,P., Verhoef,G., Boogaerts,M., Wlodarska,I., Kantarjian,H., Marynen,P., Coutre,S.E., Stone,R. and Gilliland,D.G. |
| Journal | N. Engl. J. Med. 348 (13), 1201-1214 (2003) |
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