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FIP1L1 factor interacting with PAPOLA and CPSF1 [ Homo sapiens (human) ]

Gene ID: 81608, updated on 7-Aug-2014
Official Symbol
FIP1L1provided by HGNC
Official Full Name
factor interacting with PAPOLA and CPSF1provided 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; FIP1; 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]
See FIP1L1 in Epigenomics, MapViewer
Location:
4q12
Exon count:
19
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 4 NC_000004.12 (53377639..53459936)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (54243803..54326103)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RAS-like, family 11, member B Neighboring gene uncharacterized LOC101928658 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 COMM domain-containing protein 5-like

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify FIP1 like 1 protein (FIP1L1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify FIP1 like 1 protein (FIP1L1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Nef nef Tandem affinity purification and mass spectrometry analysis identify FIP1 like 1 protein (FIP1L1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify FIP1 like 1 protein (FIP1L1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed

Go to the HIV-1, Human Protein Interaction Database

  • 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 ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ33619, DKFZp586K0717

Gene Ontology Provided by GOA

Function Evidence Code Pubs
poly(A) RNA binding IDA
Inferred from Direct Assay
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
FIP1-like 1 protein
factor interacting with PAP
rearranged in hypereosinophilia
FIP1L1 cleavage and polyadenylation specific factor subunit

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 

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

mRNA and Protein(s)

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

    See proteins identical to NP_001128409.1

    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:138182
    Blast Score: 259
    Fip1; Fip1 motif
  2. NM_001134938.1NP_001128410.1  pre-mRNA 3'-end-processing factor FIP1 isoform 3

    See proteins identical to NP_001128410.1

    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:138182
    Blast Score: 261
    Fip1; Fip1 motif
  3. NM_030917.3NP_112179.2  pre-mRNA 3'-end-processing factor FIP1 isoform 1

    See proteins identical to NP_112179.2

    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:153197
    Blast Score: 258
    Fip1; Fip1 motif

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000004.12 

    Range
    53377639..53459936
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265768.2XP_005265825.1  

    See proteins identical to XP_005265825.1

    Conserved Domains (1) summary
    pfam05182
    Location:153197
    Blast Score: 258
    Fip1; Fip1 motif
  2. XM_005265778.2XP_005265835.1  

    Conserved Domains (1) summary
    pfam05182
    Location:153197
    Blast Score: 263
    Fip1; Fip1 motif
  3. XM_005265770.2XP_005265827.1  

    Conserved Domains (1) summary
    pfam05182
    Location:153197
    Blast Score: 258
    Fip1; Fip1 motif
  4. XM_005265779.2XP_005265836.1  

    Conserved Domains (1) summary
    pfam05182
    Location:153197
    Blast Score: 263
    Fip1; Fip1 motif
  5. XM_005265775.2XP_005265832.1  

    Conserved Domains (1) summary
    pfam05182
    Location:153197
    Blast Score: 259
    Fip1; Fip1 motif
  6. XM_005265777.2XP_005265834.1  

    Conserved Domains (1) summary
    pfam05182
    Location:153197
    Blast Score: 259
    Fip1; Fip1 motif
  7. XM_005265772.2XP_005265829.1  

    Conserved Domains (1) summary
    pfam05182
    Location:153197
    Blast Score: 258
    Fip1; Fip1 motif
  8. XM_005265780.2XP_005265837.1  

    Conserved Domains (1) summary
    pfam05182
    Location:153197
    Blast Score: 260
    Fip1; Fip1 motif
  9. XM_005265771.2XP_005265828.1  

    Conserved Domains (1) summary
    pfam05182
    Location:138182
    Blast Score: 258
    Fip1; Fip1 motif
  10. XM_005265776.2XP_005265833.1  

    Conserved Domains (1) summary
    pfam05182
    Location:138182
    Blast Score: 259
    Fip1; Fip1 motif
  11. XM_005265769.2XP_005265826.1  

    See proteins identical to XP_005265826.1

    Conserved Domains (1) summary
    pfam05182
    Location:153197
    Blast Score: 258
    Fip1; Fip1 motif
  12. XM_005265773.2XP_005265830.1  

    Conserved Domains (1) summary
    pfam05182
    Location:153197
    Blast Score: 258
    Fip1; Fip1 motif
  13. XM_005265774.2XP_005265831.1  

    Conserved Domains (1) summary
    pfam05182
    Location:153197
    Blast Score: 258
    Fip1; Fip1 motif
  14. XM_005265781.2XP_005265838.1  

    Conserved Domains (1) summary
    pfam05182
    Location:153197
    Blast Score: 260
    Fip1; Fip1 motif
  15. XM_005265782.2XP_005265839.1  

    Conserved Domains (1) summary
    pfam05182
    Location:153197
    Blast Score: 260
    Fip1; Fip1 motif

Alternate HuRef

Genomic

  1. AC_000136.1 

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

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 

    Range
    54279549..54361766
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)