InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: FIP1L1

Summary

InnateDB Gene

IDBG-18445.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FIP1L1

Gene Name

FIP1 like 1 (S. cerevisiae)

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000145216

Encoded Proteins

IDBP-18447

FIP1 like 1 (S. cerevisiae)

IDBP-18449

FIP1 like 1 (S. cerevisiae)

IDBP-18451

FIP1 like 1 (S. cerevisiae)

IDBP-481350

FIP1 like 1 (S. cerevisiae)

IDBP-473514

FIP1 like 1 (S. cerevisiae)

IDBP-484434

FIP1 like 1 (S. cerevisiae)

IDBP-485234

FIP1 like 1 (S. cerevisiae)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 4:53377643-54295272

Strand

Forward strand

Band

q12

Transcripts

ENST00000337488	ENSP00000336752
ENST00000306932	ENSP00000302993
ENST00000358575	ENSP00000351383
ENST00000511376
ENST00000507922	ENSP00000425456
ENST00000505125
ENST00000507166	ENSP00000423325
ENST00000513975
ENST00000510668
ENST00000514543	ENSP00000421241
ENST00000513008
ENST00000504094	ENSP00000421691
ENST00000511055
ENST00000507206

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 33 experimentally validated interaction(s) in this database.

Experimentally validated
Total	33 [view]
Protein-Protein	33 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004672	protein kinase activity
GO:0004713	protein tyrosine kinase activity
GO:0004714	transmembrane receptor protein tyrosine kinase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016772	transferase activity, transferring phosphorus-containing groups
GO:0044822	poly(A) RNA binding

Biological Process

GO:0006397	mRNA processing
GO:0006468	protein phosphorylation
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway

Cellular Component

GO:0005634	nucleus
GO:0005847	mRNA cleavage and polyadenylation specificity factor complex
GO:0016021	integral component of membrane

Orthologs

No orthologs found for this gene

Pathways

NETPATH

REACTOME

KEGG

hsa03015

mRNA surveillance pathway pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.624245

RefSeq

NM_001134937 NM_001134938 NM_030917 XM_005265770 XM_005265771 XM_005265780 XM_005265781

HUGO

OMIM

CCDS

CCDS3491 CCDS47055 CCDS47056

HPRD

09646

IMGT

EMBL

GenPept

RNA Seq Atlas