Search
formin-binding protein 1 (formin-binding protein 17, hFBP17, FNBP1, FBP17, KIAA0554)
Function:
1) link between RND2 signaling & regulation of actin cytoskeleton
2) coordinates membrane tubulation with reorganization of actin cytoskeleton during endocytosis
3) binds to lipids, i.e. phosphatidylinositol 4,5-bisphosphate & phosphatidylserine & promotes membrane invagination & formation of tubules
4) enhances actin polymerization via the recruitment of WASL/N-WASP, which in turn activates the Arp2/3 complex
5) actin polymerization may promote fission of membrane tubules to form endocytic vesicles
6) required for the lysosomal retention of FASLG/FASL
7) interacts specifically with GTP-bound RND2 & CDC42
8) interacts with PDE6G & microtubules (putative)
9) self-associates & can polymerize to form filamentous structures
10) interacts with AKAP9, ARHGAP17, DAAM1, DIAPH1, DIAPH2, DNM1, DNM2, DNM3, FASLG/FASL, SNX2 & WASL/N-WASP
11) may interact with TNK
Structure:
- belongs to the FNBP1 family.
- contains 1 FCH domain.
- contains 1 REM repeat (Hr1 repeat)
- contains 1 SH3 domain
Compartment:
- cytoplasm
- enriched in cortical regions coincident with F-actin
- localizes to endocytic vesicles & lysosomes
Alternative splicing: named isoforms=4
Expression:
- expressed in epithelial cells of GI tract, respiratory, reproductive & urinary systems
- expressed in brown adipose tissue, cardiomyocytes, enteric ganglia, glucagon producing cells of pancreas
- expressed in germ cells of testis
- expressed in all regions of the brain
Pathology:
- a chromosomal translocation t(9;11)(q34;q23) involving FNBP1 with MLL is found in acute leukemias
- low incidence of MLL-FNBP1 fusion protein in acute leukemia may reflect marginal capacity of this fusion protein to induce cellular transformation
General
cytoskeletal protein
formin binding protein
phosphoprotein
Properties
SIZE: MW = 71 kD
entity length = 617 aa
COMPARTMENT: cytoplasm
MOTIF: interaction with microtubules {1-335}
MOTIF: binding site
SITE: 1-284
FOR-BINDING-OF: SELF-ASSOCIATION, LIPID
membrane tubulation {1-79}
FCH domain {1-65}
coiled coil {132-190}
membrane tubulation {251-617}
MOTIF: Ser phosphorylation site {S296}
Ser phosphorylation site {S299}
proline-rich region
SITE: 340-345
MOTIF: proline residue (SEVERAL)
RND2 interaction {400-552}
REM {416-491}
PDE6G interaction {495-617}
TNKS interaction {514-617}
Tyr phosphorylation site {Y522}
DNM1,DNM3 interaction {535-617}
ARHGAP17, DAAM1, DIAPH1 & DIAPH2 {550-617}
src homology 3 [SH3] domain
SITE: 550-611
FASLG interaction {553-610}
DNM2,WASL interaction {553-609}
Database Correlations
OMIM 606191
UniProt Q96RU3
PFAM correlations
References
- UniProt :accession Q96RU3
- Atlas Genet. Cytogenet. Oncol. Haematol.;
http://atlasgeneticsoncology.org/Genes/FBP17ID353.html