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Aliases for FNBP1 Gene

Aliases for FNBP1 Gene

  • Formin Binding Protein 1 2 3 5
  • Formin-Binding Protein 17 3 4
  • FBP17 3 4
  • KIAA0554 4
  • HFBP17 4

External Ids for FNBP1 Gene

Previous GeneCards Identifiers for FNBP1 Gene

  • GC09M124295
  • GC09M126103
  • GC09M128025
  • GC09M129730
  • GC09M131690
  • GC09M132649
  • GC09M102248

Summaries for FNBP1 Gene

Entrez Gene Summary for FNBP1 Gene

  • The protein encoded by this gene is a member of the formin-binding-protein family. The protein contains an N-terminal Fer/Cdc42-interacting protein 4 (CIP4) homology (FCH) domain followed by a coiled-coil domain, a proline-rich motif, a second coiled-coil domain, a Rho family protein-binding domain (RBD), and a C-terminal SH3 domain. This protein binds sorting nexin 2 (SNX2), tankyrase (TNKS), and dynamin; an interaction between this protein and formin has not been demonstrated yet in human. [provided by RefSeq, Jul 2008]

GeneCards Summary for FNBP1 Gene

FNBP1 (Formin Binding Protein 1) is a Protein Coding gene. Diseases associated with FNBP1 include persistent hyperplastic primary vitreous. GO annotations related to this gene include identical protein binding and structural constituent of ribosome. An important paralog of this gene is TRIP10.

UniProtKB/Swiss-Prot for FNBP1 Gene

  • May act as a link between RND2 signaling and regulation of the actin cytoskeleton (By similarity). Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during the late stage of clathrin-mediated endocytosis. Binds to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promotes membrane invagination and the formation of tubules. Also enhances actin polymerization via the recruitment of WASL/N-WASP, which in turn activates the Arp2/3 complex. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles. May be required for the lysosomal retention of FASLG/FASL.

Gene Wiki entry for FNBP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FNBP1 Gene

Genomics for FNBP1 Gene

Regulatory Elements for FNBP1 Gene

Promoters for FNBP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FNBP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for FNBP1 Gene

Chromosome:
9
Start:
129,887,187 bp from pter
End:
130,043,194 bp from pter
Size:
156,008 bases
Orientation:
Minus strand

Genomic View for FNBP1 Gene

Genes around FNBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FNBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FNBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FNBP1 Gene

Proteins for FNBP1 Gene

  • Protein details for FNBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96RU3-FNBP1_HUMAN
    Recommended name:
    Formin-binding protein 1
    Protein Accession:
    Q96RU3
    Secondary Accessions:
    • B7ZL12
    • E9PGQ4
    • O60301
    • Q3MIN8
    • Q5TC87
    • Q5TC88
    • Q6P658
    • Q7LGG2
    • Q9H8H8
    • Q9NWD1

    Protein attributes for FNBP1 Gene

    Size:
    617 amino acids
    Molecular mass:
    71307 Da
    Quaternary structure:
    • Interacts specifically with GTP-bound RND2 and CDC42. Interacts with PDE6G and microtubules (By similarity). Homodimerizes, the dimers can polymerize end-to-end to form filamentous structures. Interacts with AKAP9, ARHGAP17, DAAM1, DIAPH1, DIAPH2, DNM1, DNM2, DNM3, FASLG/FASL, SNX2 and WASL/N-WASP. May interact with TNKS.
    SequenceCaution:
    • Sequence=AAH62463.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAK49824.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA25480.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA91451.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI12149.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI12150.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI13910.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI13911.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FNBP1 Gene

    Alternative splice isoforms for FNBP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FNBP1 Gene

Proteomics data for FNBP1 Gene at MOPED

Post-translational modifications for FNBP1 Gene

  • Ubiquitination at Lys 44
  • Modification sites at PhosphoSitePlus

Other Protein References for FNBP1 Gene

Antibody Products

No data available for DME Specific Peptides for FNBP1 Gene

Domains & Families for FNBP1 Gene

Protein Domains for FNBP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96RU3

UniProtKB/Swiss-Prot:

FNBP1_HUMAN :
  • The F-BAR domain binds the phospholipid membrane with its concave surface. The end-to-end polymerization of dimers of these domains provides a curved surface that fits best membranes with around 600 A diameter, and may drive tubulation.
  • Belongs to the FNBP1 family.
  • Contains 1 REM (Hr1) repeat.
Domain:
  • The F-BAR domain binds the phospholipid membrane with its concave surface. The end-to-end polymerization of dimers of these domains provides a curved surface that fits best membranes with around 600 A diameter, and may drive tubulation.
  • Contains 1 F-BAR domain.
  • Contains 1 SH3 domain.
Family:
  • Belongs to the FNBP1 family.
Similarity:
  • Contains 1 REM (Hr1) repeat.
genes like me logo Genes that share domains with FNBP1: view

No data available for Gene Families for FNBP1 Gene

Function for FNBP1 Gene

Molecular function for FNBP1 Gene

UniProtKB/Swiss-Prot Function:
May act as a link between RND2 signaling and regulation of the actin cytoskeleton (By similarity). Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during the late stage of clathrin-mediated endocytosis. Binds to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promotes membrane invagination and the formation of tubules. Also enhances actin polymerization via the recruitment of WASL/N-WASP, which in turn activates the Arp2/3 complex. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles. May be required for the lysosomal retention of FASLG/FASL.

Gene Ontology (GO) - Molecular Function for FNBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005086 ARF guanyl-nucleotide exchange factor activity IBA --
GO:0005515 protein binding IEA,IPI 11438682
genes like me logo Genes that share ontologies with FNBP1: view

Phenotypes for FNBP1 Gene

GenomeRNAi human phenotypes for FNBP1:
genes like me logo Genes that share phenotypes with FNBP1: view

Animal Model Products

miRNA for FNBP1 Gene

miRTarBase miRNAs that target FNBP1

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FNBP1 Gene

Localization for FNBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FNBP1 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Lysosome. Cytoplasmic vesicle. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Membrane, clathrin-coated pit. Note=Enriched in cortical regions coincident with F-actin. Also localizes to endocytic vesicles and lysosomes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FNBP1 Gene COMPARTMENTS Subcellular localization image for FNBP1 gene
Compartment Confidence
cytoskeleton 5
lysosome 5
plasma membrane 5
vacuole 5
cytosol 3
golgi apparatus 3
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for FNBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005802 trans-Golgi network IBA --
GO:0005886 plasma membrane IEA --
GO:0005905 coated pit IEA --
GO:0016023 cytoplasmic, membrane-bounded vesicle IEA --
genes like me logo Genes that share ontologies with FNBP1: view

Pathways & Interactions for FNBP1 Gene

SuperPathways for FNBP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FNBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043547 positive regulation of GTPase activity IBA --
genes like me logo Genes that share ontologies with FNBP1: view

No data available for Pathways by source and SIGNOR curated interactions for FNBP1 Gene

Drugs & Compounds for FNBP1 Gene

(1) Drugs for FNBP1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(124) Additional Compounds for FNBP1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PS(14:0/14:0)
  • 1-Myristoyl-2-myristoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/14:0)
  • Phosphatidylserine(28:0)
  • PS(14:0/14:0)
  • PS(28:0)
PS(14:0/14:1(9Z))
  • 1-Myristoyl-2-myristoleoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/14:1)
  • Phosphatidylserine(14:0/14:1n5)
  • Phosphatidylserine(14:0/14:1w5)
  • Phosphatidylserine(28:1)
PS(14:0/16:0)
  • 1-Myristoyl-2-palmitoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/16:0)
  • Phosphatidylserine(30:0)
  • PS(14:0/16:0)
  • PS(30:0)
PS(14:0/16:1(9Z))
  • 1-Myristoyl-2-palmitoleoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/16:1)
  • Phosphatidylserine(14:0/16:1n7)
  • Phosphatidylserine(14:0/16:1w7)
  • Phosphatidylserine(30:1)
PS(14:0/18:0)
  • 1-Myristoyl-2-stearoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/18:0)
  • Phosphatidylserine(32:0)
  • PS(14:0/18:0)
  • PS(32:0)
genes like me logo Genes that share compounds with FNBP1: view

Transcripts for FNBP1 Gene

Unigene Clusters for FNBP1 Gene

Formin binding protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FNBP1 Gene

No ASD Table

Relevant External Links for FNBP1 Gene

GeneLoc Exon Structure for
FNBP1
ECgene alternative splicing isoforms for
FNBP1

Expression for FNBP1 Gene

mRNA expression in normal human tissues for FNBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FNBP1 Gene

This gene is overexpressed in Lymph node (25.4) and Peripheral blood mononuclear cells (11.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for FNBP1 Gene



SOURCE GeneReport for Unigene cluster for FNBP1 Gene Hs.189409

mRNA Expression by UniProt/SwissProt for FNBP1 Gene

Q96RU3-FNBP1_HUMAN
Tissue specificity: Very highly expressed in the epithelial cells of the gastrointestinal tract, respiratory, reproductive and urinary systems. Also highly expressed in brown adipose tissue, cardiomyocytes, enteric ganglia and glucagon producing cells of the pancreas. Expressed in germ cells of the testis and all regions of the brain.
genes like me logo Genes that share expression patterns with FNBP1: view

Protein tissue co-expression partners for FNBP1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for FNBP1 Gene

Orthologs for FNBP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FNBP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FNBP1 35
  • 90.21 (n)
  • 94.48 (a)
FNBP1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FNBP1 35
  • 90.13 (n)
  • 93.93 (a)
FNBP1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fnbp1 35
  • 85.77 (n)
  • 93.67 (a)
Fnbp1 16
Fnbp1 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FNBP1 35
  • 98.9 (n)
  • 98.32 (a)
FNBP1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fnbp1 35
  • 85.34 (n)
  • 93.83 (a)
oppossum
(Monodelphis domestica)
Mammalia FNBP1 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FNBP1 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves FNBP1 35
  • 83.6 (n)
  • 89.29 (a)
FNBP1 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fnbp1 35
  • 77.58 (n)
  • 81.98 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.10587 35
zebrafish
(Danio rerio)
Actinopterygii fnbp1 35
  • 69.89 (n)
  • 72.12 (a)
fnbp1 36
  • 67 (a)
OneToMany
FNBP1 (2 of 3) 36
  • 70 (a)
OneToMany
FNBP1 (3 of 3) 36
  • 49 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Cip4 36
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea toca-1 35
  • 42.64 (n)
  • 30.09 (a)
toca-1 36
  • 26 (a)
ManyToMany
toca-2 36
  • 23 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
OneToMany
Species with no ortholog for FNBP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FNBP1 Gene

ENSEMBL:
Gene Tree for FNBP1 (if available)
TreeFam:
Gene Tree for FNBP1 (if available)

Paralogs for FNBP1 Gene

Paralogs for FNBP1 Gene

(3) SIMAP similar genes for FNBP1 Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for FNBP1 Gene

genes like me logo Genes that share paralogs with FNBP1: view

Variants for FNBP1 Gene

Sequence variations from dbSNP and Humsavar for FNBP1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1023000 - 129,900,507(+) GCTCG(C/T)TGCGT reference, missense
rs2528 -- 129,907,221(+) TAGAT(C/G)TGTCT intron-variant
rs590000 -- 130,029,811(+) agaca(A/C)catct intron-variant
rs514972 -- 130,021,573(+) TAATT(A/C)TTTGA intron-variant
rs605448 -- 130,037,567(+) ATAAA(C/G/T)ATATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FNBP1 Gene

Variant ID Type Subtype PubMed ID
nsv893928 CNV Loss 21882294
nsv469902 CNV Loss 18288195
nsv893929 CNV Gain 21882294
nsv893930 CNV Loss 21882294
nsv893931 CNV Gain+Loss 21882294
esv2739097 CNV Deletion 23290073
nsv831732 CNV Loss 17160897
esv2656758 CNV Deletion 23128226
esv2677749 CNV Deletion 23128226
esv2674922 CNV Deletion 23128226
nsv416070 CNV Loss 16902084

Variation tolerance for FNBP1 Gene

Residual Variation Intolerance Score: 20.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.14; 51.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FNBP1 Gene

HapMap Linkage Disequilibrium report
FNBP1
Human Gene Mutation Database (HGMD)
FNBP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FNBP1 Gene

Disorders for FNBP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FNBP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
persistent hyperplastic primary vitreous
  • phpv
- elite association - COSMIC cancer census association via MalaCards
Search FNBP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FNBP1_HUMAN
  • Note=A chromosomal aberration involving FNBP1 is found in acute leukemias. Translocation t(9;11)(q34;q23) with KMT2A/MLL1. The relatively low incidence of the KMT2A/MLL1-FNBP1 fusion protein in acute leukemia may reflect the marginal capacity of this fusion protein to induce cellular transformation.

Relevant External Links for FNBP1

Genetic Association Database (GAD)
FNBP1
Human Genome Epidemiology (HuGE) Navigator
FNBP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FNBP1
genes like me logo Genes that share disorders with FNBP1: view

No data available for Genatlas for FNBP1 Gene

Publications for FNBP1 Gene

  1. The human formin-binding protein 17 (FBP17) interacts with sorting nexin, SNX2, and is an MLL-fusion partner in acute myelogeneous leukemia. (PMID: 11438682) Fuchs U. … Borkhardt A. (Proc. Natl. Acad. Sci. U.S.A. 2001) 2 3 4 23 67
  2. FBP17 Mediates a Common Molecular Step in the Formation of Podosomes and Phagocytic Cups in Macrophages. (PMID: 19155218) Tsuboi S. … Ochs H.D. (J. Biol. Chem. 2009) 3 23
  3. EFC/F-BAR proteins and the N-WASP-WIP complex induce membrane curvature-dependent actin polymerization. (PMID: 18923421) Takano K. … Suetsugu S. (EMBO J. 2008) 3 23
  4. Curved EFC/F-BAR-domain dimers are joined end to end into a filament for membrane invagination in endocytosis. (PMID: 17512409) Shimada A. … Yokoyama S. (Cell 2007) 3 23
  5. Regulation of FasL expression: a SH3 domain containing protein family involved in the lysosomal association of FasL. (PMID: 16318909) Qian J. … Janssen O. (Cell. Signal. 2006) 3 23

Products for FNBP1 Gene

Sources for FNBP1 Gene

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