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FNBP1 Gene

protein-coding   GIFtS: 58
GCID: GC09M132649

Formin Binding Protein 1

  Search for FNBP1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Formin Binding Protein 11 2
FBP172 3 5
Formin-Binding Protein 172 3
Formin-Binding Protein 12
KIAA05543
hFBP173

External Ids:    HGNC: 170691   Entrez Gene: 230482   Ensembl: ENSG000001872397   OMIM: 6061915   UniProtKB: Q96RU33   

Export aliases for FNBP1 gene to outside databases

Previous GC identifers: GC09M124295 GC09M126103 GC09M128025 GC09M129730 GC09M131690 GC09M102248


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 lipid binding and identical protein binding. An important paralog of this gene is TRIP10.

UniProtKB/Swiss-Prot: FNBP1_HUMAN, Q96RU3
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 Wiki entry for FNBP1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FNBP1 gene promoter:
         SRF   SRF (504 AA)   C/EBPalpha   Max   PPAR-gamma1   POU2F1   POU2F1a   PPAR-gamma2   c-Myc   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFNBP1 promoter sequence
   Search Chromatin IP Primers for FNBP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FNBP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34   Ensembl cytogenetic band:  9q34.11   HGNC cytogenetic band: 9q34

FNBP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FNBP1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M132649:  view genomic region     (about GC identifiers)

Start:
132,649,466 bp from pter      End:
132,805,473 bp from pter
Size:
156,008 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FNBP1_HUMAN, Q96RU3 (See protein sequence)
Recommended Name: Formin-binding protein 1  
Size: 617 amino acids; 71307 Da
Subunit: 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
Sequence caution: Sequence=AAH62463.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=AAK49824.1; Type=Erroneous initiation; Sequence=BAA25480.1; Type=Erroneous initiation;
Sequence=BAA91451.1; Type=Erroneous initiation; Sequence=CAI12149.1; Type=Erroneous gene model prediction;
Sequence=CAI12150.1; Type=Erroneous gene model prediction; Sequence=CAI13910.1; Type=Erroneous gene model
prediction; Sequence=CAI13911.1; Type=Erroneous gene model prediction;
1 PDB 3D structure from and Proteopedia for FNBP1:
2EFL (3D)    
Secondary accessions: O60301 Q3MIN8 Q5TC87 Q5TC88 Q6P658 Q7LGG2 Q9H8H8 Q9NWD1
Alternative splicing: 4 isoforms:  Q96RU3-1   Q96RU3-2   Q96RU3-3   Q96RU3-4   

Explore the universe of human proteins at neXtProt for FNBP1: NX_Q96RU3

Explore proteomics data for FNBP1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys44
  • Modification sites at PhosphoSitePlus

  • See FNBP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055848.1  
    ENSEMBL proteins: 
     ENSP00000413625   ENSP00000415602   ENSP00000347907   ENSP00000407548   ENSP00000389117  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR001060 FCH_dom
     IPR001452 SH3_domain
     IPR028532 FNBP1
     IPR014729 Rossmann-like_a/b/a_fold

    Graphical View of Domain Structure for InterPro Entry Q96RU3

    ProtoNet protein and cluster: Q96RU3

    2 Blocks protein domains:
    IPB001060 Cdc15/Fes/CIP4
    IPB001452 SH3 domain signature


    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
    Similarity: Belongs to the FNBP1 family
    Similarity: Contains 1 FCH domain
    Similarity: Contains 1 REM (Hr1) repeat
    Similarity: Contains 1 SH3 domain


    Find genes that share domains with FNBP1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FNBP1_HUMAN, Q96RU3
    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): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding ----
    GO:0003735structural constituent of ribosome ----
    GO:0005515protein binding IPI11438682
    GO:0008289lipid binding IEA--
    GO:0042802identical protein binding IPI15252009
         
    Find genes that share ontologies with FNBP1           About GenesLikeMe


    Animal Models:
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    miRTarBase miRNAs that target FNBP1:
    hsa-mir-25-3p (MIRT050292), hsa-mir-9-5p (MIRT021456), hsa-mir-16-5p (MIRT051078), hsa-mir-192-5p (MIRT026653), hsa-mir-615-3p (MIRT039958), hsa-mir-21-5p (MIRT030906), hsa-mir-128-3p (MIRT022054), hsa-mir-106b-5p (MIRT044298)

    Block miRNA regulation of human, mouse, rat FNBP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FNBP1 (see all 46):
    hsa-miR-624 hsa-miR-301a hsa-miR-766 hsa-miR-650 hsa-miR-877* hsa-miR-1184 hsa-miR-124 hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidFNBP1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FNBP1_HUMAN, Q96RU3: 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: 

    CompartmentConfidence
    cytoskeleton5
    lysosome5
    plasma membrane5
    vacuole5
    cytosol3
    nucleus2
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005764lysosome IEA--
    GO:0005840ribosome ----
    GO:0005856cytoskeleton IEA--
    GO:0005886plasma membrane IEA--

    Find genes that share ontologies with FNBP1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FNBP1
    Interactions:

        GeneGlobe Interaction Network for FNBP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for FNBP1 (Q96RU31, 2, 3 ENSP000004136254) via UniProtKB, MINT, STRING, and/or I2D (see all 80)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPA1AP081073, ENSP000003648024I2D: score=1 STRING: ENSP00000364802
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    ENSG00000231555P081073I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006412translation ----
    GO:0006897endocytosis IEA--
    GO:0007165signal transduction ----

    Find genes that share ontologies with FNBP1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for FNBP1

    Selected HMDB Compounds for FNBP1 (see all 125)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    PS(14:0/14:0)Phosphatidylserine(14:0/14:0) (see all 7)----
    PS(14:0/14:1(9Z))Phosphatidylserine(14:0/14:1n5) (see all 13)----
    PS(14:0/16:0)1-myristoyl-2-palmitoyl-sn-glycero-3-phosphoserine (see all 7)----
    PS(14:0/16:1(9Z))PS(14:0/16:1n7) (see all 13)----
    PS(14:0/18:0)Phosphatidylserine(32:0) (see all 7)----
    PS(14:0/18:1(9Z))PSer(14:0/18:1n9) (see all 13)----
    PS(14:0/18:2(9Z,12Z))PS(14:0/18:2) (see all 13)----
    PS(14:0/18:3(9Z,12Z,15Z))Phosphatidylserine(14:0/18:3) (see all 14)----
    PS(14:0/20:3(8Z,11Z,14Z))PSer(14:0/20:3) (see all 14)----



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for FNBP1 gene: 
    NM_015033.2  

    Unigene Cluster for FNBP1:

    Formin binding protein 1
    Hs.189409  [show with all ESTs]
    Unigene Representative Sequence: AL049935
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000446176(uc011mbu.1 uc004byw.1 uc011mbv.1 uc011mbw.1)
    ENST00000449089(uc004byx.1 uc004byy.1 uc004byz.1) ENST00000355681
    ENST00000478129 ENST00000462766 ENST00000482107 ENST00000491905 ENST00000420781(uc004bza.2)
    ENST00000443566
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    Additional mRNA sequence: 

    AB011126.1 AF265550.1 AK000975.1 AK001616.1 AK023681.1 AK090963.1 AK293743.1 AL049935.1 
    AL832949.1 AY952886.3 BC009262.2 BC018159.1 BC062463.1 BC094851.1 BC101755.1 BC143513.1 
    BC143514.1 BC143515.1 

    Selected DOTS entries (see all 27):

    DT.99963101  DT.75104267  DT.408472  DT.95098992  DT.97845617  DT.419332  DT.97845616  DT.101966743 
    DT.91997887  DT.310649  DT.100775911  DT.435785  DT.95358258  DT.121170262  DT.100680973  DT.91751661 
    DT.121170211  DT.121170193  DT.100025033  DT.100775913  DT.87015403  DT.95157239  DT.121170099  DT.91751662 

    Selected AceView cDNA sequences (see all 424):

    AI360858 BG685946 AA262829 BQ918663 AU118047 M79001 AA381979 AA626132 
    AA449152 AA864599 BM725380 CR616499 BM455891 BM697621 AA733093 AA206843 
    AA465250 AA482387 AA705001 BC062463 BM478022 BX431686 BM475826 BM664102 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FNBP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTCTTATTG
    FNBP1 Expression
    About this image


    FNBP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter
    FNBP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FNBP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.189409

    UniProtKB/Swiss-Prot: FNBP1_HUMAN, Q96RU3
    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

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FNBP1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for FNBP1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fnbp11 , 5 formin binding protein 11, 5 85.77(n)1
    93.67(a)1
      2 (21.78 cM)5
    142691  NM_001177648.11  NP_001171119.11 
     310262065 
    chicken
    (Gallus gallus)
    Aves FNBP11 formin binding protein 1 83.6(n)
    89.29(a)
      417187  XM_415469.4  XP_415469.3 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.105872 Xenopus laevis transcribed sequence with weak similarity more 84.43(n)    BX844235.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fnbp11 formin binding protein 1 69.89(n)
    72.12(a)
      558990  NM_001123244.1  NP_001116716.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cip46
    Cip4
    31(a)
    1 → many
    3L(4322491-4364102)
    worm
    (Caenorhabditis elegans)
    Secernentea toca-11 toca-1 42.64(n)
    30.09(a)
      180492  NM_171940.4  NP_741723.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FNBP1 gene
    TRIP102  FNBP1L2  
    3 SIMAP similar genes for FNBP1 using alignment to 7 protein entries:     FNBP1_HUMAN (see all proteins):
    FNBP1L    TRIP10    STP

    Find genes that share paralogs with FNBP1           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for FNBP1
    PGOHUM00000240689 PGOHUM00000237567


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FNBP1 (see all 3179)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1473353101,2
    --132649035(+) CTCCGC/TACTGC 1 -- ds50010--------
    rs1917071781,2
    --132649053(+) TTCACA/CGAAAC 1 -- ds50010--------
    rs727572191,2
    C,F--132649267(+) GCACTA/GCATCA 1 -- ds50010--------
    rs1888824741,2
    --132649301(+) TCTGAC/GAGCCT 1 -- ds50010--------
    rs38245391,2
    C,F,H--132649310(+) CTCCCC/TCTCCA 1 -- ds50017Minor allele frequency- T:0.02EA NS NA 2134
    rs788400001,2
    F--132649384(+) CAGCCC/AAGGGG 1 -- ds50011Minor allele frequency- A:0.04WA 118
    rs1930798311,2
    --132649425(+) CTAGGG/TTCATA 1 -- ds50010--------
    rs1410010401,2
    --132649454(+) GTCCCA/GTGACA 1 -- ds50010--------
    rs1420201411,2
    C--132649564(+) TCTCC-/AGAGACA 1 -- ut310--------
    rs1150076601,2
    C--132649661(+) ACGAAC/TATTTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for FNBP1 (132649466 - 132805473 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FNBP1 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2677749CNV Deletion23128226
    esv2674922CNV Deletion23128226
    esv2739097CNV Deletion23290073
    esv2656758CNV Deletion23128226
    nsv893930CNV Loss21882294
    nsv416070CNV Loss16902084
    nsv469902CNV Loss18288195
    nsv831732CNV Loss17160897
    nsv893928CNV Loss21882294
    nsv893929CNV Gain21882294

    Human Gene Mutation Database (HGMD): FNBP1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FNBP1
    DNA2.0 Custom Variant and Variant Library Synthesis for FNBP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606191    OMIM disorders: --

    UniProtKB/Swiss-Prot: FNBP1_HUMAN, Q96RU3
  • 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


  • Find genes that share disorders with FNBP1           About GenesLikeMe

    1 Novoseek inferred disease relationship for FNBP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia 10.3 2 11438682 (1)

    Genetic Association Database (GAD): FNBP1
    Human Genome Epidemiology (HuGE) Navigator: FNBP1 (1 document)

    Export disorders for FNBP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for FNBP1 gene, integrated from 10 sources (see all 55):
    (articles sorted by number of sources associating them with FNBP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human formin-binding protein 17 (FBP17) interacts with sorting nexin, SNX2, and is an MLL-fusion partner in acute myelogeneous leukemia. (PubMed id 11438682)1, 2, 3, 9 Fuchs U.... Borkhardt A. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    2. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2, 3 Nagase T....Ohara O. (DNA Res. 1998)
    3. A novel dynamin-associating molecule, formin-binding protein 17, induces tubular membrane invaginations and participates in endocytosis. (PubMed id 15252009)1, 2, 9 Kamioka Y....Mochizuki N. (J. Biol. Chem. 2004)
    4. The formin-binding protein 17, FBP17, binds via a TNKS binding motif to tankyrase, a protein involved in telomere maintenance. (PubMed id 14596906)1, 2, 9 Fuchs U.... Borkhardt A. (FEBS Lett. 2003)
    5. Coordination between the actin cytoskeleton and membrane deformation by a novel membrane tubulation domain of PCH proteins is involved in endocytosis. (PubMed id 16418535)1, 2, 9 Tsujita K....Takenawa T. (J. Cell Biol. 2006)
    6. Curved EFC/F-BAR-domain dimers are joined end to end into a filament for membrane invagination in endocytosis. (PubMed id 17512409)1, 2, 9 Shimada A.... Yokoyama S. (Cell 2007)
    7. Regulation of FasL expression: a SH3 domain containing protein family involved in the lysosomal association of FasL. (PubMed id 16318909)1, 2, 9 Qian J....Janssen O. (Cell. Signal. 2006)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    9. The diaphanous-related formin DAAM1 collaborates with the Rho GTPases RhoA and Cdc42, CIP4 and Src in regulating cell morphogenesis and actin dynamics. (PubMed id 16630611)1, 2 Aspenstroem P.... Johansson A.-S. (Exp. Cell Res. 2006)
    10. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23048 HGNC: 17069 AceView: FNBP1 Ensembl:ENSG00000187239 euGenes: HUgn23048
    ECgene: FNBP1 H-InvDB: FNBP1

    (According to HUGE)
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    HUGE: KIAA0554

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FNBP1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FNBP1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FNBP1 gene:
    Search GeneIP for patents involving FNBP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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