FIP1L1

GENE INFORMATION

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Gene name

FIP1L1 (HGNC Symbol)

Synonyms

DKFZp586K0717, FIP1

Description

factor interacting with PAPOLA and CPSF1 (HGNC Symbol)

Entrez gene 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]

Chromosome

4 (Chromosome progress)

Cytoband

q12

Chromosome location (bp)

54243810 - 55161439

Ensembl

ENSG00000145216 (version 73.37)

Entrez gene

81608

UniProt

Q6UN15 (UniProt - Evidence at protein level)

neXtProt

NX_Q6UN15

Antibodypedia

FIP1L1 antibodies
 

PROTEIN VIEW

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FIP1L1-001
 
FIP1L1-002
 
FIP1L1-003
 
FIP1L1-005
 
FIP1L1-009
 
FIP1L1-010
 
FIP1L1-011
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

FIP1L1-001 ENSP00000336752
ENST00000337488
Q6UN15
Show all »
Show » Show » 594 66.5 No 0
FIP1L1-002 ENSP00000351383
ENST00000358575
Q6UN15
Show all »
Show » Show » 588 65.7 No 0
FIP1L1-003 ENSP00000302993
ENST00000306932
Q6UN15
Show all »
Show » Show » 520 58.4 No 0
FIP1L1-005 ENSP00000423325
ENST00000507166
Q6UN15
Show all »
Show » Show » 849 94.7 No 0
FIP1L1-009 ENSP00000425456
ENST00000507922
Q6UN15
Show all »
Show » Show » 378 40.8 No 0
FIP1L1-010 ENSP00000421691
ENST00000504094
H0Y8P7
Show all »
Show » 254 29.5 No 0
FIP1L1-011 ENSP00000421241
ENST00000514543
Show » 26 2.6 No 0