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FLASH GENE
Symbol FNBP1 contributors: npt/mct - updated : 14-01-2015
HGNC name formin binding protein 1
HGNC id 17069
Location 9q34.11      Physical location : 132.649.465 - 132.805.473
Synonym name
  • rapostlin (apostle of RND2)
  • forming-binding protein 17
  • FBP17/MLL fusion gene
  • dynamin-associating molecule, formin-binding protein 17
  • Synonym symbol(s) KIAA0554, EVI43, FBP17, MGC126804
    DNA
    TYPE functioning gene
    STRUCTURE 156.01 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    ENDOG 9q34.1 endonuclease G HSPC109 9q34.13 hypothetical protein HSPC109 CCBL1 9q34.1 cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase) LRRC8 9q34.2 leucine rich repeat containing 8 PHYHD1 9q34.13 phytanoyl-CoA dioxygenase domain containing 1 TMEM15 9q34.13 transmembrane protein 15 KIAA0169 9q34.13 transmembrane protein 15 SH3GLB2 9q34 SH3-domain GRB2-like endophilin B2 C9orf54 9q34.13 chromosome 9 open reading frame 54 DOLPP1 9q34.1 chromosome 9 open reading frame 54 CRAT 9q34.1 carnitine acetyltransferase PPP2R4 9q34.1 protein phosphatase 2A, regulatory subunit B' (PR 53) LOC389792 9 similar to RIKEN cDNA 2610524G09 LOC389793 9 LOC389793 LOC389794 9 LOC389794 LOC375759 9q34.2 hypothetical protein LOC375759 AD-003 9q34.2 AD-003 protein ASB6 9q34.13 ankyrin repeat and SOCS box-containing 6 PRRX2 9q34.1 paired related homeobox 2 PTGES 9q34.3 prostaglandin E synthase TOR1B 9q34 torsin family 1, member B (torsin B) LOC51759 DYT1 9q34 dystonia 1, torsion (autosomal dominant; torsin A) USP20 9q34.12-q34.13 ubiquitin specific protease 20 FNBP1 9q34 formin binding protein 1 GPR107 9q34.2 G protein-coupled receptor 107 LOC389795 9 similar to GCDRP FREQ 9q34 frequenin homolog (Drosophila) LOC392395 9 similar to hemicentin DKFZp434P0216 9q34.2 hemicentin-2 LOC389796 9 similar to CDNA sequence BC034076 LOC389797 9 similar to cDNA sequence BC034076 ASS 9q34.13 argininosuccinate synthetase PRDM12 9q33-q34 PR domain containing 12 RRP4 9q34 homolog of Yeast RRP4 (ribosomal RNA processing 4), 3'-5'-exoribonuclease ABL1 9q34.13 v-abl Abelson murine leukemia viral oncogene homolog 1 P518 9q34.2 P518 precursor protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - splicing 5378 78 679 predominantly expressed in brain Kakimoto (2004)
    recruiting WASL from cytosol to RapostlinL-bound microtubules
    - splicing 1977 - 650 expressed in brain and testis, but the expression level was low Kakimoto (2004)
    lacking 29 residues (amino acids 329-357)
    - splicing - - 618 expressed ubiquitously Kakimoto (2004)
  • lacking 61 residues (amino acids 329-389), within the insert region
  • lacks exon 10
  • 17 - 5457 71.2 617 - Fujita (2002)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   highly
    Cardiovascularheart   highly
    Nervousbrainlimbic systemhippocampus predominantly Rattus norvegicusFetal
    Reproductivemale systemprostate  highly
    Urinarykidney   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal region homologous to the cell division cycle protein CDC15, EFC (extended FER-CIP4 homology)/F-BAR (FER-CIP4 homology and Bin-amphiphysin-Rvs) domain previously shown to have membrane binding and deformation activities ((Tsuboi 2009)
  • two coiled-coil domains
  • a proline rich motif
  • a FBH (FNBP1 AND 2 homology), and HR1 (PRKC related homology) domains
  • an ARHN-binding domain localized between FCH and SH3 domains
  • an IN, insert region
  • a SH3 (Src homology 3) domain at the carboxyl terminus
  • HOMOLOGY
    interspecies homolog to S.pombe cdc15
    ortholog to rattus Fnbp1
    ortholog to murine Fnbp1
    Homologene
    FAMILY
  • Rho gene family
  • FNBP1 family
  • CATEGORY regulatory , RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,nucleus
    text
  • FBP17/MLL fusion gene only in the nucleus
  • FBP17 only in the cytoplasm (directly binds to microtubules)
  • basic FUNCTION
  • inducing neurite branching in response to ARHN
  • regulating endocytosis by forming vesicotubular structures and involved in dynamin-mediated endocytosis in both a clathrin-dependent and -independent manner
  • recruits WAS, WIPF1, and dynamin-2 to the plasma membrane and that this recruitment is necessary for the formation of podosomes and phagocytic cups (Tsuboi 2009)
  • facilitates membrane deformation and actin polymerization to occur simultaneously at the same membrane sites, which mediates a common molecular step in the formation of podosomes and phagocytic cups (Tsuboi 2009)
  • stimulating curvature-dependent actin polymerization with WAS-WIPF complex (Takano 2008)
  • recruited to clathrin-coated pits in the late stage of clathrin-mediated endocytosis, indicating its physiological role (Shimada (2007)
  • has a critical role in the process of bladder tumor cell invasion by mediating invadopodia formation
  • FNBP1 and RND2 cooperatively regulate spine density
  • plays a key role in spine formation through the regulation of membrane dynamics
  • has emerged as a crucial factor linking the plasma membrane to WAS-mediated actin polymerization
  • self-assembly of FNBP1 at the podosomal membrane initiates actin polymerization, whereas the clustering of PSTPIP2 has an opposite effect
  • CELLULAR PROCESS protein, translation/synthesis
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forming of a complex also including DNM2, TRIP10, WAS in the early stage of endocytosis
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SNX2
  • first effector of ARHN, regulating neurite branch formation
  • coupling membrane deformation to actin cytoskeleton reorganization in various cellulkar processes
  • interacting with TNKS via a special TNKS-binding motif
  • binding to WAS via the SH3 Domain
  • binding to AKAP9, influencing the maintenance of Golgi apparatus
  • interacting with DNM1 and regulating endocytosis by forming vesicotubular structures
  • bind to neural Wiskott-Aldrich syndrome protein (WAS)which links phosphatidylinositol (4,5)-bisphosphate and the Rho family GTPase CDC42 to the Arp2/3 complex (Takano 2008)
  • RND2, binds to the HR1 domain of Rapostlin (FNBP1) (enhanced the Rapostlin-induced tubular membrane invagination
  • assembly of FNBP1 on the plasma membranes is antagonized by PSTPIP2, another F-BAR protein implicated in auto-inflammatory disorder
  • assembly of FNBP1 is dependent on WAS, and its dissociation by WAS inhibition strongly induces a self-organization of PSTPIP2 at podosomes
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion     protein chimeric
    fused with MLL in acute myelogemous leukemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS