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FGFR1OP (FGFR1 oncogene partner)

Identity

Other namesFOP (Fibroblast Growth Factor Receptor 1 Oncogene Partner)
HGNC (Hugo) FGFR1OP
Location 6q27
Location_base_pair Starts at 167412816 and ends at 167454065 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  FOP (6q27) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it

DNA/RNA

Description full length cDNA: 1 627 bp
Transcription a single open reading frame of 1 197 bp mRNA; putative ATG: bp 85; stop codon at bp 1 282; alternative splicing: multiple FOP transcript variants resulting from exon 7 or exon 11 splices

Protein

 
Description 399 amino acids; predicted molecular mass: 44.3 kDa; Hydrophobic protein containing in its N- and C-termini several regions folding in a-helices with leucine-rich repeats with the consensus sequence L-X2-L-X3-5-L-X3-5-L, in one-third of which the leucine is substituted by either a valine or an isoleucine
Expression ubiquitous expression
Localisation cell cytoplasm
Function unknown

Implicated in

Entity t(6;8)(q27; p12) myeloproliferative disorder --> FOP - FGFR1 ; stem-cell myeloproliferative disorder associated with the 8p12 chromosomal translocations with fusions to the catalytic domain of FGFR1
Disease stem-cell myeloproliferative disorder characterized by myeloid hyperplasia, T -cell lymphoblastic leukemia/lymphoma and peripheral blood eosinophilia, and it generally progresses to acute myeloid leukemia; specific to the 8p12 chromosomal region.
Prognosis very poor (median survival: 12 mths)
Cytogenetics additional abnormalities: 2q+ and +21
Hybrid/Mutated Gene 5' FOP - 3' FGFR1; localisation: der(6)
Abnormal Protein N-term leucine-rich region from FOP fused to the catalytic domain of FGFR1 (FGFR1 intracellular region minus the major part of the juxtamembrane domain)
 
Oncogenesis constitutive kinase activity of FGFR1 through constitutive activation of FGFR1 signal transduction pathways via putative constitutive dimerization capability mediated by the FOP N-term LRR sequences
  

External links

Nomenclature
HGNC (Hugo)FGFR1OP   17012
Entrez_Gene (NCBI)FGFR1OP  11116  FGFR1 oncogene partner
Cards
AtlasFOPID140
GeneCards (Weizmann)FGFR1OP
Ensembl (Hinxton)ENSG00000213066 [Gene_View]  FGFR1OP [Vega]
AceView (NCBI)FGFR1OP
Genatlas (Paris)FGFR1OP
euGene (Indiana)11116
SOURCE (Stanford)NM_007045 NM_194429
Gene Expression (Array Express) ENSG00000213066
Genomic and cartography
GoldenPath (UCSC)FGFR1OP  -  6q27   chr6:167412816-167454065 +  6q27   [Description]    (hg19-Feb_2009)
EnsemblFGFR1OP - 6q27 [CytoView]
Mapping of homologs : NCBIFGFR1OP [Mapview]
OMIM605392   
Gene and transcription
Gene : Genbank (Entrez)AJ420472 AK289846 AK294950 AK312791 BC011902
Reference sequence (RefSeq transcript) :SRSNM_007045 NM_194429
Reference transcript : EntrezNM_007045 NM_194429
RefSeq genomic : SRSAC_000049 AC_000138 NC_000006 NT_025741 NW_001838993 NW_923184
RefSeq genomic : EntrezAC_000049 AC_000138 NC_000006 NT_025741 NW_001838993 NW_923184
Consensus coding sequences : CCDS NCBIFGFR1OP
Cluster EST : UnigeneHs.487175 [ SRS ] Hs.487175 [ NCBI ]
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtO95684 (SRS) O95684 (Expasy) O95684 (Uniprot)
With graphics : InterProO95684
Splice isoforms : VarSplice FASTAO95684(VarSplice FASTA)
Domaine pattern : Prosite (SRS)LISH (PS50896)   
Domain pattern : Prosite (Expaxy)LISH (PS50896)   
Domains : Interpro (SRS)FOP_dimerisation-dom_N    LisH_dimerisation   
Domains : Interpro (EBI)FOP_dimerisation-dom_N    LisH_dimerisation   
Related proteins : CluSTrO95684
Domain families : Pfam SRSFOP_dimer (PF09398)   
Domain families : Pfam SangerFOP_dimer (PF09398)   
Domain families : Pfam NCBIpfam09398   
Domain families : Smart EMBLLisH (SM00667)  
Blocks (Seattle)O95684
Crystal structure of protein : PDB SRS2D68   
Crystal structure of protein : PDBSum2D68   
Crystal structure of protein : IMB2D68   
Crystal structure of protein : PDB RSDB2D68   
Human Protein AtlasENSG00000213066
HPRD10392
Protein Interaction databases
DIP (DOE-UCLA)O95684
IntAct (EBI)O95684
FunCoupENSG00000213066
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIFGFR1OP
SNP : GeneSNP UtahFGFR1OP
SNP : HGBaseFGFR1OP
Genetic variants : HAPMAPFGFR1OP
Cancer Gene: CensusFGFR1OP 
Somatic Mutations in Cancer : COSMICFGFR1OP 
Translocation Breakpoints in Cancer : TICdbFGFR1OP 
Mutations and Diseases : HGMDFGFR1OP
Hereditary diseases : OMIM605392   
Hereditary diseases : GENETests605392   
Diseases : Genetic AssociationFGFR1OP
General knowledge
Homologs : HomoloGeneFGFR1OP
Homology/Alignments : Family Browser UCSCFGFR1OP
Phylogenetic Trees/Animal Genes : TreeFamFGFR1OP
Chemical/Protein Interactions : CTD11116
Keywords Ontology : AmiGOprotein binding  nucleus  cytoplasm  centrosome  cytosol  cytoskeleton  negative regulation of protein kinase activity  positive regulation of cell proliferation  protein kinase binding  protein tyrosine kinase inhibitor activity  positive regulation of cell growth  positive regulation of cell migration  microtubule anchoring  protein homodimerization activity  perinuclear region of cytoplasm  
Keywords Ontology : EGO-EBIprotein binding  nucleus  cytoplasm  centrosome  cytosol  cytoskeleton  negative regulation of protein kinase activity  positive regulation of cell proliferation  protein kinase binding  protein tyrosine kinase inhibitor activity  positive regulation of cell growth  positive regulation of cell migration  microtubule anchoring  protein homodimerization activity  perinuclear region of cytoplasm  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Probes : ImagenesFGFR1OP Related clones (RZPD - Berlin)
Literature
PubMed22 Pubmed reference(s) in Entrez
PubGeneFGFR1OP

Bibliography

The t(6;8)(q27;p11) translocation in a stem cell myeloproliferative disorder fuses a novel gene, FOP, to fibroblast growth factor receptor 1.
Popovici C, Zhang B, Grˆ©goire MJ, Jonveaux P, Lafage-Pochitaloff M, Birnbaum D, Pˆ©busque MJ
Blood. 1999 ; 93 (4) : 1381-1389.
PMID 9949182
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written01-2001Marie-Joséphe Pébusque

Citation

This paper should be referenced as such :
Pébusque MJ . FGFR1OP (FGFR1 oncogene partner). Atlas Genet Cytogenet Oncol Haematol. January 2001 .
URL : http://AtlasGeneticsOncology.org/Genes/FOPID140.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jul 15 14:46:32 CEST 2010
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