FGFR1OP (FGFR1 oncogene partner)

Identity

Other names	FOP (Fibroblast Growth Factor Receptor 1 Oncogene Partner)
Hugo	FGFR1OP
Location	6q27
	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
Hugo	FGFR1OP
GDB	FGFR1OP
Entrez_Gene	FGFR1OP  11116  FGFR1 oncogene partner
	Cards
Atlas	FOPID140
GeneCards	FGFR1OP
Ensembl	FGFR1OP [Search_View]   ENSG00000112486 [Gene_View]
Genatlas	FGFR1OP
GeneLynx	FGFR1OP
eGenome	FGFR1OP
euGene	11116
	Genomic and cartography
GoldenPath	FGFR1OP  -  6q27   chr6:167332806-167374055 +  6q27   [Description]    (hg18-Mar_2006)
Ensembl	FGFR1OP - 6q27 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	FGFR1OP
	Gene and transcription
Genbank	AJ420472 [ ENTREZ ]
Genbank	AK289846 [ ENTREZ ]
Genbank	AK312791 [ ENTREZ ]
Genbank	BC011902 [ ENTREZ ]
Genbank	BC037785 [ ENTREZ ]
RefSeq	NM_007045 [ SRS ]    NM_007045 [ ENTREZ ]
RefSeq	NM_194429 [ SRS ]    NM_194429 [ ENTREZ ]
RefSeq	AC_000049 [ SRS ]    AC_000049 [ ENTREZ ]
RefSeq	AC_000138 [ SRS ]    AC_000138 [ ENTREZ ]
RefSeq	NC_000006 [ SRS ]    NC_000006 [ ENTREZ ]
RefSeq	NT_007422 [ SRS ]    NT_007422 [ ENTREZ ]
RefSeq	NW_001838993 [ SRS ]    NW_001838993 [ ENTREZ ]
RefSeq	NW_923184 [ SRS ]    NW_923184 [ ENTREZ ]
AceView	FGFR1OP AceView - NCBI
Unigene	Hs.487175 [ SRS ]    Hs.487175 [ NCBI ]     HS487175 [ spliceNest ]
	Protein : pattern, domain, 3D structure
SwissProt	O95684 [ SRS]    O95684 [ EXPASY ]     O95684 [ INTERPRO ]
Prosite	PS50896 LISH [ SRS ]    PS50896 LISH [ Expasy ]
Interpro	IPR006594 LisH_dimerisation [ SRS ]    IPR006594 LisH_dimerisation [ EBI ]
CluSTr	O95684
Smart	SM00667 LisH [EMBL]
Blocks	O95684
PDB	FGFR1OP [ SRS ]    FGFR1OP [ PdbSum ],   FGFR1OP [ IMB ]   FGFR1OP [ RSDB ]
HPRD	10392
	Protein Interaction databases
DIP	O95684
IntAct	O95684
	Polymorphism : SNP, mutations, diseases
OMIM	605392    [ map ]
GENECLINICS	605392
SNP	FGFR1OP [dbSNP-NCBI]
SNP	NM_007045 [SNP-NCI]
SNP	NM_194429 [SNP-NCI]
SNP	FGFR1OP [GeneSNPs - Utah]  FGFR1OP] [HGBASE - SRS]
HAPMAP	FGFR1OP [HAPMAP]
COSMIC	FGFR1OP [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	FGFR1OP
	General knowledge
Family Browser	FGFR1OP [UCSC Family Browser]
SOURCE	NM_007045
SOURCE	NM_194429
SMD	Hs.487175
SAGE	Hs.487175
GO	centrosome [Amigo]  centrosome
GO	positive regulation of cell proliferation [Amigo]  positive regulation of cell proliferation
PubGene	FGFR1OP
TreeFam	FGFR1OP
CTD	11116 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	Cancer Cytogenetics (Bari)
Probe	FGFR1OP Related clones (RZPD - Berlin)
	PubMed
PubMed	12 Pubmed reference(s) in LocusLink

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 articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	01-2001	Marie-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 : Mon Jul 14 17:44:42 2008