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Aliases for FIP1L1 Gene

Aliases for FIP1L1 Gene

  • Factor Interacting With PAPOLA And CPSF1 2 3 5
  • FIP1L1 Cleavage And Polyadenylation Specific Factor Subunit 2 3
  • Rearranged In Hypereosinophilia 3 4
  • Factor Interacting With PAP 3 4
  • FIP1-Like 1 Protein 3 4
  • HFip1 3 4
  • FIP1 3 4
  • Rhe 3 4
  • FIP1 Like 1 (S. Cerevisiae) 2
  • FIP1 Like 1 3
  • EC 4.2.1.33 63
  • EC 1.1.1.86 63

External Ids for FIP1L1 Gene

Previous GeneCards Identifiers for FIP1L1 Gene

  • GC04P054224
  • GC04P054093
  • GC04P054159
  • GC04P054084
  • GC04P053938
  • GC04P050188

Summaries for FIP1L1 Gene

Entrez Gene Summary for FIP1L1 Gene

  • 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]

GeneCards Summary for FIP1L1 Gene

FIP1L1 (Factor Interacting With PAPOLA And CPSF1) is a Protein Coding gene. Diseases associated with FIP1L1 include Chronic Eosinophilic Leukemia and Primary Hypereosinophilic Syndrome. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. GO annotations related to this gene include poly(A) RNA binding and protein kinase activity.

UniProtKB/Swiss-Prot for FIP1L1 Gene

  • 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.

Gene Wiki entry for FIP1L1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FIP1L1 Gene

Genomics for FIP1L1 Gene

Regulatory Elements for FIP1L1 Gene

Enhancers for FIP1L1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FIP1L1 on UCSC Golden Path with GeneCards custom track

Promoters for FIP1L1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FIP1L1 on UCSC Golden Path with GeneCards custom track

Genomic Location for FIP1L1 Gene

Chromosome:
4
Start:
53,377,643 bp from pter
End:
53,462,611 bp from pter
Size:
84,969 bases
Orientation:
Plus strand

Genomic View for FIP1L1 Gene

Genes around FIP1L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FIP1L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FIP1L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FIP1L1 Gene

Proteins for FIP1L1 Gene

  • Protein details for FIP1L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UN15-FIP1_HUMAN
    Recommended name:
    Pre-mRNA 3-end-processing factor FIP1
    Protein Accession:
    Q6UN15
    Secondary Accessions:
    • B4DIR3
    • G3XAD6
    • Q0VGE0
    • Q499Y4
    • Q49AU3
    • Q7Z608
    • Q8WVN3
    • Q96F80
    • Q9H077

    Protein attributes for FIP1L1 Gene

    Size:
    594 amino acids
    Molecular mass:
    66526 Da
    Quaternary structure:
    • 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 and CSTF3 (PubMed:14749727). Interacts with AHCYL1 (when phosphorylated); the interaction is direct and associates AHCYL1 with the CPSF complex and RNA (PubMed:19224921). Interacts with PAPOLA; the interaction seems to be increased by the interaction with AHCYL1 (By similarity).
    SequenceCaution:
    • Sequence=AAH24016.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=AAH52959.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Alternative splice isoforms for FIP1L1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FIP1L1 Gene

Proteomics data for FIP1L1 Gene at MOPED

Selected DME Specific Peptides for FIP1L1 Gene

Post-translational modifications for FIP1L1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FIP1L1 Gene

Domains & Families for FIP1L1 Gene

Protein Domains for FIP1L1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FIP1L1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6UN15

UniProtKB/Swiss-Prot:

FIP1_HUMAN :
  • Belongs to the FIP1 family.
Family:
  • Belongs to the FIP1 family.
genes like me logo Genes that share domains with FIP1L1: view

No data available for Gene Families for FIP1L1 Gene

Function for FIP1L1 Gene

Molecular function for FIP1L1 Gene

UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for FIP1L1 Gene

genes like me logo Genes that share phenotypes with FIP1L1: view

Human Phenotype Ontology for FIP1L1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for FIP1L1 Gene

miRTarBase miRNAs that target FIP1L1

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for FIP1L1 Gene

Localization for FIP1L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FIP1L1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FIP1L1 Gene COMPARTMENTS Subcellular localization image for FIP1L1 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for FIP1L1 Gene

Pathways & Interactions for FIP1L1 Gene

genes like me logo Genes that share pathways with FIP1L1: view

Pathways by source for FIP1L1 Gene

SIGNOR curated interactions for FIP1L1 Gene

Activates:

Gene Ontology (GO) - Biological Process for FIP1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006406 mRNA export from nucleus TAS --
genes like me logo Genes that share ontologies with FIP1L1: view

Drugs & Compounds for FIP1L1 Gene

(2) Drugs for FIP1L1 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
imatinib Approved Pharma Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 0
genes like me logo Genes that share compounds with FIP1L1: view

Transcripts for FIP1L1 Gene

Unigene Clusters for FIP1L1 Gene

FIP1 like 1 (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FIP1L1 Gene

No ASD Table

Relevant External Links for FIP1L1 Gene

GeneLoc Exon Structure for
FIP1L1
ECgene alternative splicing isoforms for
FIP1L1

Expression for FIP1L1 Gene

mRNA expression in normal human tissues for FIP1L1 Gene

Protein differential expression in normal tissues from HIPED for FIP1L1 Gene

This gene is overexpressed in Testis (9.2), Pancreas (8.6), and Peripheral blood mononuclear cells (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for FIP1L1 Gene



SOURCE GeneReport for Unigene cluster for FIP1L1 Gene Hs.624245

genes like me logo Genes that share expression patterns with FIP1L1: view

Protein tissue co-expression partners for FIP1L1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for FIP1L1 Gene

Orthologs for FIP1L1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for FIP1L1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FIP1L1 35
  • 99.78 (n)
  • 100 (a)
FIP1L1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fip1l1 35
  • 89.39 (n)
  • 97.57 (a)
cow
(Bos Taurus)
Mammalia FIP1L1 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FIP1L1 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FIP1L1 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fip1l1 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FIP1L1 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves FIP1L1 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FIP1L1 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fip1l1 35
  • 72.26 (n)
  • 77.34 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4439 35
zebrafish
(Danio rerio)
Actinopterygii wufd36f11 35
fip1l1a 36
  • 52 (a)
OneToMany
fip1l1b 36
  • 59 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1768 35
fruit fly
(Drosophila melanogaster)
Insecta Fip1 36
  • 22 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea fipp-1 36
  • 29 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FIP1 36
  • 26 (a)
OneToOne
FIP1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 49 (a)
OneToOne
Species with no ortholog for FIP1L1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FIP1L1 Gene

ENSEMBL:
Gene Tree for FIP1L1 (if available)
TreeFam:
Gene Tree for FIP1L1 (if available)

Paralogs for FIP1L1 Gene

No data available for Paralogs for FIP1L1 Gene

Variants for FIP1L1 Gene

Sequence variations from dbSNP and Humsavar for FIP1L1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs15887 -- 53,459,349(+) CAGGA(A/G)ACACA reference, missense
rs997832 -- 53,382,109(-) TTGCA(G/T)AAGAC intron-variant
rs922747 -- 53,431,633(+) GTTTT(C/T)AAATA intron-variant
rs1473911 -- 53,445,950(-) TGAGT(A/G)CATGA intron-variant
rs1481819 -- 53,387,979(+) CCTAT(A/G)AAATG intron-variant

Variation tolerance for FIP1L1 Gene

Residual Variation Intolerance Score: 11% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.74; 33.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FIP1L1 Gene

Human Gene Mutation Database (HGMD)
FIP1L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for FIP1L1 Gene

Disorders for FIP1L1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for FIP1L1 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
chronic eosinophilic leukemia
primary hypereosinophilic syndrome
  • clonal hypereosinophilic syndrome
leukemia, acute promyelocytic, somatic
  • leukemia, acute promyelocytic
hypereosinophilic syndrome
  • disseminated eosinophilic collagen disease
sm-ahnmd
  • systemic mastocytosis with associated clonal haematological non-mast cell lineage disease
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

FIP1_HUMAN
  • 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). {ECO:0000269 PubMed:12660384, ECO:0000269 PubMed:12808148}.

Relevant External Links for FIP1L1

Genetic Association Database (GAD)
FIP1L1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FIP1L1
genes like me logo Genes that share disorders with FIP1L1: view

No data available for Genatlas for FIP1L1 Gene

Publications for FIP1L1 Gene

  1. Human Fip1 is a subunit of CPSF that binds to U-rich RNA elements and stimulates poly(A) polymerase. (PMID: 14749727) Kaufmann I. … Keller W. (EMBO J. 2004) 2 3 4 23 67
  2. A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. (PMID: 12660384) Cools J. … Gilliland D.G. (N. Engl. J. Med. 2003) 3 23
  3. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 2 3
  4. The Dual Estrogen Receptor I+ Inhibitory Effects of the Tissue-Selective Estrogen Complex for Endometrial and Breast Safety. (PMID: 26487511) Han S.J. … O'Malley B.W. (Mol. Pharmacol. 2016) 3
  5. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3

Products for FIP1L1 Gene

Sources for FIP1L1 Gene

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