FGFR1OP (FGFR1 oncogene partner)

2001-01-01   Marie-Joséphe Pébusque 

INSERM U119, IFR 57, 27 Blvd Lei Roure, 13009 Marseille, France

Identity

HGNC
LOCATION
6q27
IMAGE
Atlas Image
LEGEND
FOP (6q27) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
ALIAS
FGFR1OP,FOP
FUSION GENES

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

Proteins

Atlas Image

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 name
t(6;8)(q27; p12) myeloproliferative disorder --> FGFR1OP - 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 gene
5 FOP - 3 FGFR1; localisation: der(6)
Fusion 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)
Atlas Image
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

Bibliography

Pubmed IDLast YearTitleAuthors
99491821999The 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 et al

Citation

Marie-Joséphe Pébusque

FGFR1OP (FGFR1 oncogene partner)

Atlas Genet Cytogenet Oncol Haematol. 2001-01-01

Online version: http://atlasgeneticsoncology.org/gene/140/fgfr1op