Free for academic non-profit institutions. Other users need a Commercial license

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
  • Pre-MRNA 3-End-Processing Factor FIP1 3
  • FIP1 Like 1 (S. Cerevisiae) 2
  • FIP1 Like 1 3
  • EC 4.2.1.33 61
  • EC 1.1.1.86 61

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 Transport of the SLBP independent Mature mRNA and Processing of Capped Intronless Pre-mRNA. GO annotations related to this gene include poly(A) RNA binding and protein kinase activity. An important paralog of this gene is ENSG00000282278.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F053195 1.2 VISTA Ensembl ENCODE 10.4 -180.4 -180433 3.8 HDGF CREB3L1 ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 SLC30A9 GLIS2 SCFD2 FIP1L1 GC04P053179 PIR49160
GH04F053346 1.1 Ensembl ENCODE 10.1 -30.1 -30130 1.1 CTCF RAD21 FIP1L1 SCFD2 GC04M053266 RNU6-310P
GH04F053496 0.8 Ensembl ENCODE 5.9 +119.7 119692 1.7 SOX13 GATAD2A SOX5 CTCF HLF CEBPB CEBPG RAD21 NR2F2 TEAD3 FIP1L1 LNX1-AS2 LNX1-AS1 PIR61049
GH04F053478 1 Ensembl ENCODE 5.1 +101.8 101807 2.1 TBP ZNF175 BACH1 ZNF316 CTBP1 GATA3 POLR3A NFE2 FOS MAFK LOC100506444 LNX1 FIP1L1 SCFD2 LNX1-AS1 GC04M053405
GH04F053475 0.9 Ensembl ENCODE 5 +99.2 99236 2.8 BHLHE40 TEAD4 ATF2 ZKSCAN1 TEAD3 JUND GATA3 FOS NFE2L2 SCFD2 FIP1L1 LNX1-AS1 GC04M053405
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00001241123 758 3200 HDGF ATF1 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2

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

Selected DME Specific Peptides for FIP1L1 Gene

Q6UN15:
  • VAFPHLP
  • EIQDGRF

Post-translational modifications for FIP1L1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Gene Ontology (GO) - Molecular Function for FIP1L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 19224921
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with FIP1L1: view
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

Clone Products

Flow Cytometry Products

No data available for 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

Gene Ontology (GO) - Cellular Components for FIP1L1 Gene

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

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:0006369 termination of RNA polymerase II transcription TAS --
GO:0006397 mRNA processing IEA --
GO:0006406 mRNA export from nucleus TAS --
GO:0031124 mRNA 3-end processing 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:

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for FIP1L1 Gene



Protein tissue co-expression partners for FIP1L1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FIP1L1 Gene:

FIP1L1

SOURCE GeneReport for Unigene cluster for FIP1L1 Gene:

Hs.624245
genes like me logo Genes that share expression patterns with FIP1L1: view

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 34 35
  • 99.78 (n)
dog
(Canis familiaris)
Mammalia FIP1L1 35
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fip1l1 35
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fip1l1 34
  • 89.39 (n)
oppossum
(Monodelphis domestica)
Mammalia FIP1L1 35
  • 86 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FIP1L1 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FIP1L1 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves FIP1L1 35
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FIP1L1 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fip1l1 34
  • 72.26 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4439 34
zebrafish
(Danio rerio)
Actinopterygii fip1l1b 35
  • 59 (a)
OneToMany
fip1l1a 35
  • 52 (a)
OneToMany
wufd36f11 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1768 34
fruit fly
(Drosophila melanogaster)
Insecta Fip1 35
  • 22 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea fipp-1 35
  • 29 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FIP1 35 37
  • 26 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 49 (a)
OneToOne
Species where no ortholog for FIP1L1 was found in the sources mined by GeneCards:
  • 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

Paralogs for FIP1L1 Gene

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

Variants for FIP1L1 Gene

Sequence variations from dbSNP and Humsavar for FIP1L1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs11723755 Benign 53,444,114(+) TAGTA(G/T)TATTT intron-variant
rs151072018 untested 53,391,488(+) ATTCA(A/G)TCTTT intron-variant, reference, missense
rs587778363 untested 53,399,808(+) CTCCT(C/T)CTTTG reference, missense
rs587778364 untested 53,379,088(+) CGTGC(A/G)TGTGC intron-variant, upstream-variant-2KB, reference, missense
rs10000723 -- 53,432,494(+) TTCTC(A/G)TGAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FIP1L1 Gene

Variant ID Type Subtype PubMed ID
esv3569421 CNV loss 25503493
esv3569422 CNV loss 25503493
esv3569423 CNV loss 25503493
esv3569424 CNV loss 25503493

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FIP1L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FIP1L1 Gene

Disorders for FIP1L1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
chronic eosinophilic leukemia
  • pdgfra-associated chronic eosinophilic leukemia
primary hypereosinophilic syndrome
  • clonal hypereosinophilic syndrome
leukemia, acute promyelocytic, somatic
  • leukemia, acute promyelocytic
hypereosinophilic syndrome
  • hypereosinophilic syndrome, idiopathic
hypereosinophilic syndrome, idiopathic, resistant to imatinib
  • hypereosinophilic syndrome, idiopathic
- 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 22 64
  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 22 64
  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 64
  4. Inositol 1,4,5-triphosphate receptor-binding protein released with inositol 1,4,5-triphosphate (IRBIT) associates with components of the mRNA 3' processing machinery in a phosphorylation-dependent manner and inhibits polyadenylation. (PMID: 19224921) Kiefer H. … Mikoshiba K. (J. Biol. Chem. 2009) 3 4 64
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64

Products for FIP1L1 Gene

Sources for FIP1L1 Gene

Content
Loading form....