FNBP1 (Formin Binding Protein 17)

2001-03-01   Uta Fuchs , Arndt Borkhardt 

Childrens University Hospital Giessen, Hematology & Oncology, Feulgenstr. 12, 35392 Giessen, Germany

Identity

HGNC
LOCATION
9q34.11
LOCUSID
ALIAS
FBP17
FUSION GENES

DNA/RNA

Description

at least 2042 bp

Transcription

open reading frame of 679 amino acids

Proteins

Atlas Image
FCH-domain: amino terminus; cdc15 homology region: aa 96-290; Rho-binding domain: aa 475-537; SH3-domain: aa 612-669

Description

679 amino acids, 75 kDa

Expression

strong expression in epithelial cells from the respiratory system, gastrointestinal tract, urinary, and reproductive system

Localisation

exclusively cytoplasmatic

Function

interacts with Sorting nexin 2 (SNX2) in vivo and in vitro

Mutations

Germinal

unknown

Somatic

unknown

Implicated in

Entity name
t(9;11)(q34;q23) acute non lymphocytic leukemia --> FNBP1 - KMT2A
Prognosis
poor
Hybrid gene
5 MLL - 3 FBP17
Atlas Image
Fusion protein
MLL/FBP17

Bibliography

Pubmed IDLast YearTitleAuthors
114386822001The human formin-binding protein 17 (FBP17) interacts with sorting nexin, SNX2, and is an MLL-fusion partner in acute myelogeneous leukemia.Fuchs U et al

Other Information

Locus ID:

NCBI: 23048
MIM: 606191
HGNC: 17069
Ensembl: ENSG00000187239

Variants:

dbSNP: 23048
ClinVar: 23048
TCGA: ENSG00000187239
COSMIC: FNBP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187239ENST00000355681Q96RU3
ENSG00000187239ENST00000420781Q96RU3
ENSG00000187239ENST00000443566B7ZL14
ENSG00000187239ENST00000446176Q96RU3
ENSG00000187239ENST00000449089H0Y7W6

Expression (GTEx)

0
50
100
150
200
250
300
350

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Clathrin-mediated endocytosisREACTOMER-HSA-8856828

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
175124092007Curved EFC/F-BAR-domain dimers are joined end to end into a filament for membrane invagination in endocytosis.168
164185352006Coordination between the actin cytoskeleton and membrane deformation by a novel membrane tubulation domain of PCH proteins is involved in endocytosis.145
189234212008EFC/F-BAR proteins and the N-WASP-WIP complex induce membrane curvature-dependent actin polymerization.68
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
207298362010Coupling between clathrin-dependent endocytic budding and F-BAR-dependent tubulation in a cell-free system.58
152520092004A novel dynamin-associating molecule, formin-binding protein 17, induces tubular membrane invaginations and participates in endocytosis.45
259388142015Feedback regulation between plasma membrane tension and membrane-bending proteins organizes cell polarity during leading edge formation.38
191552182009FBP17 Mediates a Common Molecular Step in the Formation of Podosomes and Phagocytic Cups in Macrophages.28
122440612002Rapostlin is a novel effector of Rnd2 GTPase inducing neurite branching.21
300616812018FBP17 and CIP4 recruit SHIP2 and lamellipodin to prime the plasma membrane for fast endophilin-mediated endocytosis.13

Citation

Uta Fuchs ; Arndt Borkhardt

FNBP1 (Formin Binding Protein 17)

Atlas Genet Cytogenet Oncol Haematol. 2001-03-01

Online version: http://atlasgeneticsoncology.org/gene/353/fnbp1