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Aliases for FIP1L1 Gene

Aliases for FIP1L1 Gene

  • Factor Interacting With PAPOLA And CPSF1 2 3
  • 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
  • Pre-MRNA 3-End-Processing Factor FIP1 3
  • 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

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 pdgfra-associated chronic eosinophilic leukemia and mast-cell sarcoma. Among its related pathways are mRNA surveillance pathway. GO annotations related to this gene include RNA binding.

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

Genomic Location for FIP1L1 Gene

Start:
53,377,639 bp from pter
End:
54,295,272 bp from pter
Size:
917,634 bases
Orientation:
Plus strand

Genomic View for FIP1L1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FIP1L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FIP1L1 Gene

Regulatory Elements 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, CSTF3 and PAPOLA.
    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

Domains 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
Family:
  • Belongs to the FIP1 family.:
    • Q6UN15
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

Gene Ontology (GO) - Molecular Function for FIP1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity --
GO:0004713 protein tyrosine kinase activity --
GO:0004714 transmembrane receptor protein tyrosine kinase activity --
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding --
genes like me logo Genes that share ontologies with FIP1L1: view

Phenotypes for FIP1L1 Gene

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

miRNA for FIP1L1 Gene

miRTarBase miRNAs that target FIP1L1

No data available for Animal Models , Transcription Factor Targeting 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
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for FIP1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005847 mRNA cleavage and polyadenylation specificity factor complex IEA --
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with FIP1L1: view

Pathways for FIP1L1 Gene

SuperPathways for FIP1L1 Gene

Superpath Contained pathways
1 mRNA surveillance pathway
genes like me logo Genes that share pathways with FIP1L1: view

Pathways by source for FIP1L1 Gene

1 KEGG pathway for FIP1L1 Gene

Gene Ontology (GO) - Biological Process for FIP1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006397 mRNA processing IEA --
GO:0006468 protein phosphorylation --
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway --
genes like me logo Genes that share ontologies with FIP1L1: view

Compounds for FIP1L1 Gene

(2) Novoseek inferred chemical compound relationships for FIP1L1 Gene

Compound -log(P) Hits PubMed IDs
imatinib 81.6 2
tyrosine 50.7 4

(1) PharmGKB related drug/compound annotations for FIP1L1 Gene

Drug/compound Annotation
imatinib
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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with FIP1L1: view

No data available for 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
cow
(Bos Taurus)
Mammalia FIP1L1 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FIP1L1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fip1l1 16
Fip1l1 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FIP1L1 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FIP1L1 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fip1l1 35
  • 89.39 (n)
  • 97.57 (a)
chicken
(Gallus gallus)
Aves FIP1L1 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FIP1L1 36
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.4439 35
tropical clawed frog
(Silurana tropicalis)
Amphibia fip1l1 35
  • 72.26 (n)
  • 77.34 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1768 35
zebrafish
(Danio rerio)
Actinopterygii fip1l1a 36
  • 52 (a)
OneToMany
fip1l1b 36
  • 59 (a)
OneToMany
wufd36f11 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 MAF
rs15887 -- 53,459,349(+) CAGGA(A/G)ACACA missense, reference
rs922747 -- 53,431,633(+) GTTTT(C/T)AAATA intron-variant
rs931181 -- 53,376,907(+) TAAAA(C/T)AGATA upstream-variant-2KB
rs931182 -- 53,377,063(+) ACACA(C/T)GAAGT upstream-variant-2KB
rs980987 -- 53,378,154(+) CCGGG(C/T)TGGGG intron-variant

Relevant External Links for FIP1L1 Gene

HapMap Linkage Disequilibrium report
FIP1L1
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

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}.

(3) Novoseek inferred disease relationships for FIP1L1 Gene

Disease -log(P) Hits PubMed IDs
hypereosinophilic syndrome 92 4
idiopathic hypereosinophilic syndrome 90.8 2
eosinophilia 73.2 1

Relevant External Links for FIP1L1

Genetic Association Database (GAD)
FIP1L1
genes like me logo Genes that share disorders with FIP1L1: view

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
  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 4 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
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. 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. (PMID: 15767428) Zhao X. … Schwartz S. (J. Virol. 2005) 3 4

Products for FIP1L1 Gene

Sources for FIP1L1 Gene

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