LOCUS       NM_030917               3396 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens factor interacting with PAPOLA and CPSF1 (FIP1L1),
            transcript variant 1, mRNA.
ACCESSION   NM_030917
VERSION     NM_030917.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3396)
  AUTHORS   Muckenfuss,L.M., Migenda Herranz,A.C., Boneberg,F.M., Clerici,M.
            and Jinek,M.
  TITLE     Fip1 is a multivalent interaction scaffold for processing factors
            in human mRNA 3' end biogenesis
  JOURNAL   Elife 11, e80332 (2022)
   PUBMED   36073787
  REMARK    GeneRIF: Fip1 is a multivalent interaction scaffold for processing
            factors in human mRNA 3' end biogenesis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3396)
  AUTHORS   Tennenbaum,J., Groh,M., Venditti,L., Campos-Gazeau,F., Chalayer,E.,
            De Broucker,T., Hamidou,M., Hunault,M., Lyoubi,A., Meunier,R.,
            Muron,T., Sene,D., Slama,B., Guidoux,C., Lefevre,G., Kahn,J.E.,
            Denier,C. and Rohmer,J.
  TITLE     FIP1L1-PDGFRA-Associated Hypereosinophilic Syndrome as a Treatable
            Cause of Watershed Infarction
  JOURNAL   Stroke 52 (10), e605-e609 (2021)
   PUBMED   34304603
  REMARK    GeneRIF: FIP1L1-PDGFRA-Associated Hypereosinophilic Syndrome as a
            Treatable Cause of Watershed Infarction.
REFERENCE   3  (bases 1 to 3396)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 3396)
  AUTHORS   Helbig,G., Lewandowski,K., Swiderska,A., Rodzaj,M., Seferynska,I.
            and Gajkowska-Kulik,J.
  TITLE     Exquisite response to imatinib mesylate in FIP1L1-PDGFRA-mutated
            hypereosinophilic syndrome: a 12-year experience of the Polish
            Hypereosinophilic Syndrome Study Group
  JOURNAL   Pol Arch Intern Med 130 (3), 255-257 (2020)
   PUBMED   32125294
  REMARK    GeneRIF: Exquisite response to imatinib mesylate in
            FIP1L1-PDGFRA-mutated hypereosinophilic syndrome: a 12-year
            experience of the Polish Hypereosinophilic Syndrome Study Group.
REFERENCE   5  (bases 1 to 3396)
  AUTHORS   Skarp,S., Kamarainen,O.P., Wei,G.H., Jakkula,E., Kiviranta,I.,
            Kroger,H., Auvinen,J., Lehenkari,P., Ala-Kokko,L. and Mannikko,M.
  TITLE     Whole exome sequencing in Finnish families identifies new candidate
            genes for osteoarthritis
  JOURNAL   PLoS One 13 (8), e0203313 (2018)
   PUBMED   30157244
  REMARK    GeneRIF: Two identified variants revealed novel candidate genes for
            hip and knee osteoarthritis. OLIG3 and FIP1L1 have specific roles
            in transcription and may effect expression of other genes.
            Identified variants in these genes may thus have a role in the
            regulatory events leading to osteoarthritis.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3396)
  AUTHORS   Cools,J., Quentmeier,H., Huntly,B.J., Marynen,P., Griffin,J.D.,
            Drexler,H.G. and Gilliland,D.G.
  TITLE     The EOL-1 cell line as an in vitro model for the study of
            FIP1L1-PDGFRA-positive chronic eosinophilic leukemia
  JOURNAL   Blood 103 (7), 2802-2805 (2004)
   PUBMED   14630792
  REMARK    GeneRIF: results indicate that the fusion of FIP1L1 to PDGFRA
            occurs rarely in leukemia cell lines
REFERENCE   7  (bases 1 to 3396)
  AUTHORS   Kaufmann,I., Martin,G., Friedlein,A., Langen,H. and Keller,W.
  TITLE     Human Fip1 is a subunit of CPSF that binds to U-rich RNA elements
            and stimulates poly(A) polymerase
  JOURNAL   EMBO J 23 (3), 616-626 (2004)
   PUBMED   14749727
REFERENCE   8  (bases 1 to 3396)
  AUTHORS   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.
  TITLE     CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in
            systemic mastocytosis associated with eosinophilia and predicts
            response to imatinib mesylate therapy
  JOURNAL   Blood 102 (9), 3093-3096 (2003)
   PUBMED   12842979
  REMARK    GeneRIF: observations suggest that the FIP1L1-PDGFRA rearrangement
            occurs in an early hematopoietic progenitor and suggests that the
            molecular pathogenesis for a subset of SMCD patients is similar to
            that of HES
REFERENCE   9  (bases 1 to 3396)
  AUTHORS   Griffin,J.H., Leung,J., Bruner,R.J., Caligiuri,M.A. and
            Briesewitz,R.
  TITLE     Discovery of a fusion kinase in EOL-1 cells and idiopathic
            hypereosinophilic syndrome
  JOURNAL   Proc Natl Acad Sci U S A 100 (13), 7830-7835 (2003)
   PUBMED   12808148
REFERENCE   10 (bases 1 to 3396)
  AUTHORS   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.
  TITLE     A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes
            as a therapeutic target of imatinib in idiopathic hypereosinophilic
            syndrome
  JOURNAL   N Engl J Med 348 (13), 1201-1214 (2003)
   PUBMED   12660384
  REMARK    GeneRIF: The hypereosinophilic syndrome may result from a novel
            fusion tyrosine kinase - FIP1L1-PDGFRalpha - that is a consequence
            of an interstitial chromosomal deletion.
            GeneRIF: Describes the fusion gene Fip1-like-1-PDGFRalpha in
            patients with idiopathic hypereosinophilic syndrome, mostly
            responsive to imatinib therapy.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC098821.3, DN990103.1,
            AY366510.1 and AC058822.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_030917.3.
            
            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].
            
            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.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.99029.1,
                                           SRR1803617.155067.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000337488.11/ ENSP00000336752.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                AC098821.3         70996-71007
            13-55               DN990103.1         10-52
            56-2209             AY366510.1         1-2154
            2210-2470           AC058822.6         74186-74446
            2471-3396           AC058822.6         74447-75372
FEATURES             Location/Qualifiers
     source          1..3396
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q12"
     gene            1..3396
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /note="factor interacting with PAPOLA and CPSF1"
                     /db_xref="GeneID:81608"
                     /db_xref="HGNC:HGNC:19124"
                     /db_xref="MIM:607686"
     exon            1..283
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /inference="alignment:Splign:2.1.0"
     CDS             199..1983
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /note="isoform 1 is encoded by transcript variant 1;
                     rearranged in hypereosinophilia; pre-mRNA
                     3'-end-processing factor FIP1; FIP1-like 1 protein; factor
                     interacting with PAP; FIP1 like 1; FIP1L1 cleavage and
                     polyadenylation specific factor subunit"
                     /codon_start=1
                     /product="pre-mRNA 3'-end-processing factor FIP1 isoform
                     1"
                     /protein_id="NP_112179.2"
                     /db_xref="CCDS:CCDS3491.1"
                     /db_xref="GeneID:81608"
                     /db_xref="HGNC:HGNC:19124"
                     /db_xref="MIM:607686"
                     /translation="MSAGEVERLVSELSGGTGGDEEEEWLYGGPWDVHVHSDLAKDLD
                     ENEVERPEEENASANPPSGIEDETAENGVPKPKVTETEDDSDSDSDDDEDDVHVTIGD
                     IKTGAPQYGSYGTAPVNLNIKTGGRVYGTTGTKVKGVDLDAPGSINGVPLLEVDLDSF
                     EDKPWRKPGADLSDYFNYGFNEDTWKAYCEKQKRIRMGLEVIPVTSTTNKITAEDCTM
                     EVTPGAEIQDGRFNLFKVQQGRTGNSEKETALPSTKAEFTSPPSLFKTGLPPSRNSTS
                     SQSQTSTASRKANSSVGKWQDRYGRAESPDLRRLPGAIDVIGQTITISRVEGRRRANE
                     NSNIQVLSERSATEVDNNFSKPPPFFPPGAPPTHLPPPPFLPPPPTVSTAPPLIPPPG
                     FPPPPGAPPPSLIPTIESGHSSGYDSRSARAFPYGNVAFPHLPGSAPSWPSLVDTSKQ
                     WDYYARREKDRDRERDRDRERDRDRDRERERTRERERERDHSPTPSVFNSDEERYRYR
                     EYAERGYERHRASREKEERHRERRHREKEETRHKSSRSNSRRRHESEEGDSHRRHKHK
                     KSKRSKEGKEAGSEPAPEQESTEATPAE"
     exon            284..328
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /inference="alignment:Splign:2.1.0"
     exon            329..368
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /inference="alignment:Splign:2.1.0"
     exon            369..426
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /inference="alignment:Splign:2.1.0"
     exon            427..530
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /inference="alignment:Splign:2.1.0"
     exon            531..595
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /inference="alignment:Splign:2.1.0"
     exon            596..703
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /inference="alignment:Splign:2.1.0"
     exon            704..834
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /inference="alignment:Splign:2.1.0"
     exon            835..903
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /inference="alignment:Splign:2.1.0"
     exon            904..1013
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /inference="alignment:Splign:2.1.0"
     exon            1014..1121
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /inference="alignment:Splign:2.1.0"
     exon            1122..1215
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /inference="alignment:Splign:2.1.0"
     exon            1216..1372
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /inference="alignment:Splign:2.1.0"
     exon            1373..1427
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /inference="alignment:Splign:2.1.0"
     exon            1428..1483
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /inference="alignment:Splign:2.1.0"
     exon            1484..1697
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /inference="alignment:Splign:2.1.0"
     exon            1698..1835
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /inference="alignment:Splign:2.1.0"
     exon            1836..3396
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2121..2126
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /note="hexamer: AATAAA"
     polyA_site      2155
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /note="major polyA site"
     regulatory      2179..2184
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /note="hexamer: AATAAA"
     polyA_site      2209
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /note="major polyA site"
     regulatory      3375..3380
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
                     /note="hexamer: AATATA"
     polyA_site      3396
                     /gene="FIP1L1"
                     /gene_synonym="FIP1; hFip1; Rhe"
ORIGIN      
        1 gcgcatgcgc agacggacct gcgctggagg cttcatcttt gccgccgctg ccgtcgcctt
       61 cctgggattg gagtctcgag ctttcttcgt tcgttcgtcg gcgggttcgc gcccttctcg
      121 cgcctcgggg ctgcgaggct ggggaagggg ttggaggggg ctgttgatcg ccgcgtttaa
      181 gttgcgctcg gggcggccat gtcggccggc gaggtcgagc gcctagtgtc ggagctgagc
      241 ggcgggaccg gaggggatga ggaggaagag tggctctatg gcggcccatg ggacgtgcat
      301 gtgcacagtg atttggcaaa ggacctagat gaaaatgaag ttgaaaggcc agaagaagaa
      361 aatgccagtg ctaatcctcc atctggaatt gaagatgaaa ctgctgaaaa tggtgtacca
      421 aaaccgaaag tgactgagac cgaagatgat agtgatagtg acagcgatga tgatgaagat
      481 gatgttcatg tcactatagg agacattaaa acgggagcac cacagtatgg gagttatggt
      541 acagcacctg taaatcttaa catcaagaca gggggaagag tttatggaac tacagggaca
      601 aaagtcaaag gagtagacct tgatgcacct ggaagcatta atggagttcc actcttagag
      661 gtagatttgg attcttttga agataaacca tggcgtaaac ctggtgctga tctttctgat
      721 tattttaatt atgggtttaa tgaagatacc tggaaagctt actgtgaaaa acaaaagagg
      781 atacgaatgg gacttgaagt tataccagta acctctacta caaataaaat tacggccgaa
      841 gactgtacta tggaagttac accaggtgca gagatccaag atggcagatt caatcttttt
      901 aaggtacagc agggaagaac tggaaactca gagaaagaaa ctgcccttcc atctacaaaa
      961 gctgagttta cttctcctcc ttctttgttc aagactgggc ttccaccgag cagaaacagc
     1021 acttcttctc agtctcagac aagtactgcc tccagaaaag ccaattcaag cgttgggaag
     1081 tggcaggatc gatatgggag ggccgaatca cctgatctaa ggagattacc tggggcaatt
     1141 gatgttatcg gtcagactat aactatcagc cgagtagaag gcaggcgacg ggcaaatgag
     1201 aacagcaaca tacaggtcct ttctgaaaga tctgctactg aagtagacaa caattttagc
     1261 aaaccacctc cgtttttccc tccaggagct cctcccactc accttccacc tcctccattt
     1321 cttccacctc ctccgactgt cagcactgct ccacctctga ttccaccacc gggttttcct
     1381 cctccaccag gcgctccacc tccatctctt ataccaacaa tagaaagtgg acattcctct
     1441 ggttatgata gtcgttctgc acgtgcattt ccatatggca atgttgcctt tccccatctt
     1501 cctggttctg ctccttcgtg gcctagtctt gtggacacca gcaagcagtg ggactattat
     1561 gccagaagag agaaagaccg agatagagag agagacagag acagagagcg agaccgtgat
     1621 cgggacagag aaagagaacg caccagagag agagagaggg agcgtgatca cagtcctaca
     1681 ccaagtgttt tcaacagcga tgaagaacga tacagataca gggaatatgc agaaagaggt
     1741 tatgagcgtc acagagcaag tcgagaaaaa gaagaacgac atagagaaag acgacacagg
     1801 gagaaagagg aaaccagaca taagtcttct cgaagtaata gtagacgtcg ccatgaaagt
     1861 gaagaaggag atagtcacag gagacacaaa cacaaaaaat ctaaaagaag caaagaagga
     1921 aaagaagcgg gcagtgagcc tgcccctgaa caggagagca ccgaagctac acctgcagaa
     1981 taggcatggt tttggccttt tgtgtatatt agtaccagaa gtagatacta taaatcttgt
     2041 tatttttctg gataatgttt aagaaattta ccttaaatct tgttctgttt gttagtatga
     2101 aaagttaact ttttttccaa aataaaagag tgaatttttc atgttaagtt aaaaatcttt
     2161 gtcttgtact atttcaaaaa taaaaagaca gcaatgactt tatatccaag aaaggaatgt
     2221 gaatgagtca cttaacaggg aatctaaaga gctgtgttag ctgtgtacat acacagatta
     2281 tctgagaaaa ggtcaagggt tccacttggg ccacagtttt tttgttaatc aaacaccact
     2341 ctcttaagag gctgcatcac aaaaggcaac aaagggcccc tctaaggctt gagattaaaa
     2401 ctagtcttta tcattactgc tgtgacactc ttgcttagta tattaagaga ctcatacatt
     2461 tttgatatca caactttttg atggcttttc aatattctaa atttgggttc ctggtgaaac
     2521 caaatggggt acactttcat atccaaatta ataaaaccta taaggcatct gggtggcctc
     2581 tatgaaataa attaattaat tacccatagt gtagtttcta ggaggcatgt gtacacacac
     2641 tcttcattgt ggcacaaatt taaatcgcct catgaccatg tctgtgagcc agggtcaagc
     2701 tggtttggcc ttcttgatgc attttccaag gcccactggt ggagcagcat gagtttttat
     2761 acagttacta acgattgtgg aaaaaaagag ctttagccat ttcttactaa aaacaaaaca
     2821 agtttataat taattctctg agcgagcatt tttagggata agcctaggag gtattcatcg
     2881 gtgatggtaa caaataacat ggtatttgaa agaataaatt actaggatct tttaaatagt
     2941 gataatacaa aagtaatctt aattagtatc acatactaaa agacaactat aacttctgaa
     3001 aaatatttat tcttgtttga tgaaagcaac gtttctcagc aatgcatttt aaaaaatatt
     3061 ttagctgtaa attaaaaatg gccataatgt acccttggca gacttcagca tataccaaat
     3121 tttaaattta aatcagcttg aattcagtgg ggtatacaaa tcattttagt tgttttaggg
     3181 ctttttattg aatagaaaaa atataaacaa tgttgtagag taatgagaaa tcctccacac
     3241 tgaaaaaaaa ctagtagttt taattttttt ggaatcatat tttctgaggt gtaactggct
     3301 ttcattagat gatcatactt ttcctgacat ttttacaatg tattctttct ttaaatataa
     3361 aaactgacaa gataaatata gtgtttcaac ttctta
//
