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Aliases for FNBP1 Gene

Aliases for FNBP1 Gene

  • Formin Binding Protein 1 2 3
  • FBP17 3 4 6
  • Formin-Binding Protein 17 3 4
  • Formin-Binding Protein 1 3
  • 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. GO annotations related to this gene include identical protein binding and lipid binding. An important paralog of this gene is FNBP1L.

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

Genomic Location for FNBP1 Gene

Start:
129,887,179 bp from pter
End:
130,043,194 bp from pter
Size:
156,016 bases
Orientation:
Minus strand

Genomic View for FNBP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys44
  • Modification sites at PhosphoSitePlus

Other Protein References for FNBP1 Gene

No data available for DME Specific Peptides for FNBP1 Gene

Domains for FNBP1 Gene

Protein Domains for FNBP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96RU3

UniProtKB/Swiss-Prot:

FNBP1_HUMAN :
  • Q96RU3
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:0003723 RNA binding --
GO:0003735 structural constituent of ribosome --
GO:0005515 protein binding IPI 11438682
GO:0008289 lipid binding IEA --
GO:0042802 identical protein binding IPI 15252009
genes like me logo Genes that share ontologies with FNBP1: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for FNBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005764 lysosome IEA --
GO:0005840 ribosome --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with FNBP1: view

Pathways 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:0006412 translation --
GO:0006897 endocytosis IEA --
GO:0007165 signal transduction --
genes like me logo Genes that share ontologies with FNBP1: view

No data available for Pathways by source for FNBP1 Gene

Compounds for FNBP1 Gene

(125) HMDB Compounds for FNBP1 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1
PS(14:0/14:0)
  • Phosphatidylserine(14:0/14:0)
Not Available
PS(14:0/14:1(9Z))
  • Phosphatidylserine(14:0/14:1n5)
Not Available
PS(14:0/16:0)
  • 1-myristoyl-2-palmitoyl-sn-glycero-3-phosphoserine
Not Available
PS(14:0/16:1(9Z))
  • PS(14:0/16:1n7)
Not Available
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

Integrated Proteomics: protein expression 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 expressions with FNBP1: view

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
chimpanzee
(Pan troglodytes)
Mammalia FNBP1 35
  • 98.9 (n)
  • 98.32 (a)
FNBP1 36
  • 98 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia FNBP1 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FNBP1 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fnbp1 35
  • 85.34 (n)
  • 93.83 (a)
chicken
(Gallus gallus)
Aves FNBP1 35
  • 83.6 (n)
  • 89.29 (a)
FNBP1 36
  • 88 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.10587 35
tropical clawed frog
(Silurana tropicalis)
Amphibia fnbp1 35
  • 77.58 (n)
  • 81.98 (a)
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

Selected 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 MAF
rs2528 -- 129,907,221(+) TAGAT(C/G)TGTCT intron-variant
rs483157 -- 130,032,139(+) AATAG(C/G)CTATT intron-variant
rs484909 -- 130,031,959(+) gcctg(A/G)ccTGA intron-variant
rs488593 -- 130,038,147(+) cagga(A/C/G/T)atcga intron-variant
rs488653 -- 130,038,134(+) cagat(C/G)acgag 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

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

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.

(1) Novoseek inferred disease relationships for FNBP1 Gene

Disease -log(P) Hits PubMed IDs
leukemia 10.3 1

Relevant External Links for FNBP1

Genetic Association Database (GAD)
FNBP1
Human Genome Epidemiology (HuGE) Navigator
FNBP1
genes like me logo Genes that share disorders with FNBP1: view

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
  2. A novel dynamin-associating molecule, formin-binding protein 17, induces tubular membrane invaginations and participates in endocytosis. (PMID: 15252009) Kamioka Y. … Mochizuki N. (J. Biol. Chem. 2004) 3 4 23
  3. The formin-binding protein 17, FBP17, binds via a TNKS binding motif to tankyrase, a protein involved in telomere maintenance. (PMID: 14596906) Fuchs U. … Borkhardt A. (FEBS Lett. 2003) 3 4 23
  4. 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 4 23
  5. Coordination between the actin cytoskeleton and membrane deformation by a novel membrane tubulation domain of PCH proteins is involved in endocytosis. (PMID: 16418535) Tsujita K. … Takenawa T. (J. Cell Biol. 2006) 3 4 23

Products for FNBP1 Gene

  • Addgene plasmids for FNBP1

Sources for FNBP1 Gene

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