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    FIP1L1 FIP1 like 1 (S. cerevisiae) [ Homo sapiens (human) ]

    Gene ID: 81608, updated on 5-May-2013
    Official Symbol
    FIP1L1provided by HGNC
    Official Full Name
    FIP1 like 1 (S. cerevisiae)provided by HGNC
    Primary source
    HGNC:19124
    See related
    Ensembl:ENSG00000145216; HPRD:09646; MIM:607686; Vega:OTTHUMG00000128701
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Rhe; hFip1
    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]
    Location :
    4q12
    Sequence :
    Chromosome: 4; NC_000004.11 (54243820..54326103)
    See FIP1L1 in Epigenomics, MapViewer

    Chromosome 4 - NC_000004.11Genomic Context describing neighboring genes Neighboring gene RAS-like, family 11, member B Neighboring gene sec1 family domain containing 2 Neighboring gene LNX1 antisense RNA 1 Neighboring gene ligand of numb-protein X 1, E3 ubiquitin protein ligase Neighboring gene LNX1 antisense RNA 2

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Charting the landscape of tandem BRCT domain-mediated protein interactions. Woods NT, et al. Sci Signal, 2012 Sep 18. PMID 22990118.
    2. Case of polycythemia vera concurrent with FIP1L1-PDGFRA-positive myeloproliferative neoplasm with eosinophilia. Alrwas A, et al. Cancer Genet, 2012 Oct. PMID 22944561.
    3. A census of human soluble protein complexes. Havugimana PC, et al. Cell, 2012 Aug 31. PMID 22939629.
    4. Identification of JAK2 as a mediator of FIP1L1-PDGFRA-induced eosinophil growth and function in CEL. Li B, et al. PLoS One, 2012. PMID 22523564.
    5. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. Udeshi ND, et al. Mol Cell Proteomics, 2012 May. PMID 22505724.

    See all (45) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. description of polycythemia vera concurrent with FIP1L1-PDGFRA-positive myeloproliferative neoplasm with eosinophilia [case report]
      Title: Case of polycythemia vera concurrent with FIP1L1-PDGFRA-positive myeloproliferative neoplasm with eosinophilia.
    2. Data show that the cyclin-dependent kinase 7/9 inhibitor (CDK7/9 inhibitor) potently inhibits FIP1L1-PDGFRalpha-positive Bcr-Abl-positive chronic myeloid leukemia (CML) cells.
      Title: Cyclin-dependent kinase 7/9 inhibitor SNS-032 abrogates FIP1-like-1 platelet-derived growth factor receptor α and bcr-abl oncogene addiction in malignant hematologic cells.
    3. results strongly suggest that JAK2 is activated by Fip1-like1 (FIP1L1)-platelet-derived growth factor receptor alpha (F/P) and is required for F/P stimulation of cellular proliferation and infiltration in chronic eosinophilic leukemia
      Title: Identification of JAK2 as a mediator of FIP1L1-PDGFRA-induced eosinophil growth and function in CEL.
    4. Treatment with imatinib is associated with an excellent prognosis in FIP1L1-PDGFRA-positive chronic eosinophilic leukemia in first chronic phase
      Title: Limited clinical activity of nilotinib and sorafenib in FIP1L1-PDGFRA positive chronic eosinophilic leukemia with imatinib-resistant T674I mutation.
    5. FIP1L1/PDGFRA fusion gene-positive myeloproliferative disorders with eosinophilia are discussed.
      Title: [Genetic mutations and molecularly-targeted drugs in hypereosinophilic syndromes].
    6. studied a new FISH method to detect CHIC2 deletion, FIP1L1/PDGFRA fusion and PDGFRA translocation in patients with myeloid neoplasms associated with eosinophilia
      Title: Validation of a new three-color fluorescence in situ hybridization (FISH) method to detect CHIC2 deletion, FIP1L1/PDGFRA fusion and PDGFRA translocations.
    7. characterized FIP1L1-PDGFRA junction sequences from 113 patients at the mRNA (n=113) and genomic DNA (n=85) levels
      Title: The molecular anatomy of the FIP1L1-PDGFRA fusion gene.
    8. FIP1L1-PDGFRalpha emerges as a relatively homogeneous clinicobiological entity that co-exists with other abnormalities of tyrosine kinase family genes. It reflects the disease progression and there is a good response to imatinib.
      Title: FIP1L1-PDGFRalpha alone or with other genetic abnormalities reveals disease progression in chronic eosinophilic leukemia but good response to imatinib.
    9. Fluorescence in situ hybridization and reverse transcriptase-polymerase chain reaction protocols were developed for an accurate del(4)(q12q12) and FIP1L1-PDGFRA fusion gene detection.
      Title: A case of FIP1L1-PDGFRA-positive chronic eosinophilic leukemia with a rare FIP1L1 breakpoint.
    10. the newly identified hFip1 protein, which has been shown to enhance polyadenylation through U-rich upstream elements, interacted specifically with the HPV-16 upstream element.
      Title: A 57-nucleotide upstream early polyadenylation element in human papillomavirus type 16 interacts with hFip1, CstF-64, hnRNP C1/C2, and polypyrimidine tract binding protein.
    Submit: New GeneRIF Correction See all (20)

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    CAB66844.1 NP_006702.1 RNPS1    BIND  PubMed RNPS1 interacts with DKFZp586K0717. 
    Q6UN15 O95639 CPSF4    HPRD  PubMed  
    BioGRID:123545 BioGRID:106848 APP    BioGRID  PubMed Reconstituted Complex 
    BioGRID:123545 BioGRID:116183 COPS5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:123545 BioGRID:118946 CPSF1    BioGRID  PubMed Co-fractionation 
    BioGRID:123545 BioGRID:119826 CPSF2    BioGRID  PubMed Co-fractionation 
    BioGRID:123545 BioGRID:119680 CPSF3    BioGRID  PubMed Co-fractionation 
    BioGRID:123545 BioGRID:116104 CPSF4    BioGRID  PubMed Two-hybrid 
    BioGRID:123545 BioGRID:107841 CSNK2A1    BioGRID  PubMed Biochemical Activity 
    BioGRID:123545 BioGRID:109420 HNRNPA1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:123545 BioGRID:115114 KIAA0101    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:123545 BioGRID:110169 LIG4    BioGRID  PubMed Two-hybrid 
    BioGRID:123545 BioGRID:115297 NUP153    BioGRID  PubMed Co-fractionation 
    BioGRID:123545 BioGRID:117071 SRRM2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:123545 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:123545 BioGRID:120620 WDR33    BioGRID  PubMed Co-fractionation 
    BioGRID:123545 BioGRID:119707 WWOX    BioGRID  PubMed Affinity Capture-MS 
    • mRNA surveillance pathway, organism-specific biosystem (from KEGG)
      mRNA surveillance pathway, organism-specific biosystemThe mRNA surveillance pathway is a quality control mechanism that detects and degrades abnormal mRNAs. These pathways include nonsense-mediated mRNA decay (NMD), nonstop mRNA decay (NSD), and no-go ...
    • mRNA surveillance pathway, conserved biosystem (from KEGG)
      mRNA surveillance pathway, conserved biosystemThe mRNA surveillance pathway is a quality control mechanism that detects and degrades abnormal mRNAs. These pathways include nonsense-mediated mRNA decay (NMD), nonstop mRNA decay (NSD), and no-go ...

    Markers

    Genotypes

    Homology

    Clone Names

    • FLJ33619, DKFZp586K0717

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    mRNA cleavage and polyadenylation specificity factor complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    nucleus IDA
    Inferred from Direct Assay
    more info
    		  
    Preferred Names
    pre-mRNA 3'-end-processing factor FIP1
    Names
    pre-mRNA 3'-end-processing factor FIP1
    FIP1-like 1 protein
    factor interacting with PAP
    rearranged in hypereosinophilia

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008644.1 RefSeqGene

      Range
      5001..87284
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001134937.1 → NP_001128409.1  pre-mRNA 3'-end-processing factor FIP1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region and has an additional in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC058822, AK295737, AY366510, DN990103
      Consensus CDS
      CCDS47055.1
      UniProtKB/Swiss-Prot
      Q6UN15
      Related
      ENSP00000351383, OTTHUMP00000218546, ENST00000358575, OTTHUMT00000361314
      Conserved Domains (1) summary
      pfam05182
      Location:138 – 182
      Blast Score: 252
      Fip1; Fip1 motif

    2. NM_001134938.1 → NP_001128410.1  pre-mRNA 3'-end-processing factor FIP1 isoform 3

      Status: REVIEWED

      Description
      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.
      Source sequence(s)
      AC058822, AL136910, DN990103
      Consensus CDS
      CCDS47056.1
      UniProtKB/Swiss-Prot
      Q6UN15
      Related
      ENSP00000302993, OTTHUMP00000218547, ENST00000306932, OTTHUMT00000361315
      Conserved Domains (1) summary
      pfam05182
      Location:138 – 182
      Blast Score: 255
      Fip1; Fip1 motif

    3. NM_030917.3 → NP_112179.2  pre-mRNA 3'-end-processing factor FIP1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC058822, AY366510, DN990103
      Consensus CDS
      CCDS3491.1
      UniProtKB/Swiss-Prot
      Q6UN15
      Related
      ENSP00000336752, OTTHUMP00000158885, ENST00000337488, OTTHUMT00000250602
      Conserved Domains (1) summary
      pfam05182
      Location:153 – 197
      Blast Score: 252
      Fip1; Fip1 motif

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000004.11 Reference GRCh37.p10 Primary Assembly

      Range
      54243820..54326103
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000136.1 Alternate HuRef

      Range
      50188974..50271212
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018915.1 Alternate CHM1_1.0

      Range
      54144537..54226810
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01003391.1 (44181..126419) None
    genomic AC058822.6 None
    genomic AC098821.3 (71050..78845) None
    genomic AMYH01014183.1 (139122..221395) None
    genomic CH471057.1 EAX05445.1
      EAX05446.1
      EAX05447.1
      EAX05448.1
      EAX05449.1
    genomic CQ834882.1 CAH05656.1
    mRNA AF161429.1 AAF28989.1
    mRNA AK090938.1 None
    mRNA AK123992.1 None
    mRNA AK295737.1 BAG58575.1
    mRNA AK300398.1 BAG62129.1
    mRNA AK308145.1 None
    mRNA AL136910.1 CAB66844.1
    mRNA AY366510.1 AAQ88277.1
    mRNA BC011543.1 AAH11543.1
    mRNA BC017724.1 AAH17724.1
    mRNA BC024016.1 AAH24016.1
    mRNA BC026724.1 None
    mRNA BC052959.1 AAH52959.1
    mRNA BC110383.1 AAI10384.1
    mRNA DN990103.1 None
    other-genetic AM392758.1 CAL37636.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UN15.1 GenPept UniProtKB/Swiss-Prot:Q6UN15

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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      Table of contents

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      • Order cDNA clone
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        BioProjects related to a gene
      • BioSystems
        BioSystems
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
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      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
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        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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