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FNBP1 (Formin Binding Protein 17)

Written2001-03Uta Fuchs, Arndt Borkhardt
Children's University Hospital Giessen, Hematology & Oncology, Feulgenstr. 12, 35392 Giessen, Germany

(Note : for Links provided by Atlas : click)

Identity

Alias_symbol (synonym)FBP17
KIAA0554
Other aliasFBP17 (Formin Binding Protein 17)
HGNC (Hugo) FNBP1
LocusID (NCBI) 23048
Atlas_Id 353
Location 9q34.11  [Link to chromosome band 9q34]
Location_base_pair Starts at 129887187 and ends at 130043194 bp from pter ( according to hg19-Feb_2009)  [Mapping FNBP1.png]
Local_order centromeric of ABL
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
FNBP1 (9q34.11) / CKB (14q32.32)FNBP1 (9q34.11) / FNBP1 (9q34.11)FNBP1 (9q34.11) / KMT2A (11q23.3)
KMT2A (11q23.3) / FNBP1 (9q34.11)MX1 (21q22.3) / FNBP1 (9q34.11)TG (8q24.22) / FNBP1 (9q34.11)

DNA/RNA

Description at least 2042 bp
Transcription open reading frame of 679 amino acids

Protein

 
  FCH-domain: amino terminus; cdc15 homology region: aa 96-290; Rho-binding domain: aa 475-537; SH3-domain: aa 612-669
Description 679 amino acids, 75 kDa
Expression strong expression in epithelial cells from the respiratory system, gastrointestinal tract, urinary, and reproductive system
Localisation exclusively cytoplasmatic
Function interacts with Sorting nexin 2 (SNX2) in vivo and in vitro

Mutations

Germinal unknown
Somatic unknown

Implicated in

Note
  
Entity t(9;11)(q34;q23) acute non lymphocytic leukemia --> FNBP1 - KMT2A
Prognosis poor
Hybrid/Mutated Gene 5' MLL - 3' FBP17
 
Abnormal Protein MLL/FBP17
  

Bibliography

The human formin-binding protein 17 (FBP17) interacts with sorting nexin, SNX2, and is an MLL-fusion partner in acute myelogeneous leukemia.
Fuchs U, Rehkamp G, Haas OA, Slany R, König M, Bojesen S, Bohle RM, Damm-Welk C, Ludwig WD, Harbott J, Borkhardt A
Proceedings of the National Academy of Sciences of the United States of America. 2001 ; 98 (15) : 8756-8761.
PMID 11438682
 

Citation

This paper should be referenced as such :
Fuchs, U ; Borkhardt, A
FBP17 (formin binding protein 17)
Atlas Genet Cytogenet Oncol Haematol. 2001;5(2):106-107.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/FBP17ID353.html

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 4 ]
  t(9;11)(q34;q23) FNBP1/KMT2A
t(9;11)(q34;q23) KMT2A/DAB2IP
ins(11;9)(q23;q34q34):t(9;11)(q34;q23) KMT2A/FNBP1
ins(11;9)(q23;q34q34)|t(9;11)(q34;q23) KMT2A/FNBP1

External links

Nomenclature
HGNC (Hugo)FNBP1   17069
Cards
AtlasFBP17ID353
Entrez_Gene (NCBI)FNBP1  23048  formin binding protein 1
AliasesFBP17
GeneCards (Weizmann)FNBP1
Ensembl hg19 (Hinxton)ENSG00000187239 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000187239 [Gene_View]  ENSG00000187239 [Sequence]  chr9:129887187-130043194 [Contig_View]  FNBP1 [Vega]
ICGC DataPortalENSG00000187239
TCGA cBioPortalFNBP1
AceView (NCBI)FNBP1
Genatlas (Paris)FNBP1
WikiGenes23048
SOURCE (Princeton)FNBP1
Genetics Home Reference (NIH)FNBP1
Genomic and cartography
GoldenPath hg38 (UCSC)FNBP1  -     chr9:129887187-130043194 -  9q34.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FNBP1  -     9q34.11   [Description]    (hg19-Feb_2009)
EnsemblFNBP1 - 9q34.11 [CytoView hg19]  FNBP1 - 9q34.11 [CytoView hg38]
Mapping of homologs : NCBIFNBP1 [Mapview hg19]  FNBP1 [Mapview hg38]
OMIM606191   
Gene and transcription
Genbank (Entrez)AA848014 AB011126 AF265550 AK000975 AK001616
RefSeq transcript (Entrez)NM_001363755 NM_015033
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FNBP1
Cluster EST : UnigeneHs.189409 [ NCBI ]
CGAP (NCI)Hs.189409
Alternative Splicing GalleryENSG00000187239
Gene ExpressionFNBP1 [ NCBI-GEO ]   FNBP1 [ EBI - ARRAY_EXPRESS ]   FNBP1 [ SEEK ]   FNBP1 [ MEM ]
Gene Expression Viewer (FireBrowse)FNBP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23048
GTEX Portal (Tissue expression)FNBP1
Human Protein AtlasENSG00000187239-FNBP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96RU3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96RU3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96RU3
Splice isoforms : SwissVarQ96RU3
PhosPhoSitePlusQ96RU3
Domaine pattern : Prosite (Expaxy)F_BAR (PS51741)    SH3 (PS50002)   
Domains : Interpro (EBI)AH/BAR_dom_sf    F_BAR    FCH_dom    FNBP1/FBP17    FNBP1_F-BAR    FNBP1_SH3    SH3-like_dom_sf    SH3_domain   
Domain families : Pfam (Sanger)FCH (PF00611)    SH3_9 (PF14604)   
Domain families : Pfam (NCBI)pfam00611    pfam14604   
Domain families : Smart (EMBL)FCH (SM00055)  SH3 (SM00326)  
Conserved Domain (NCBI)FNBP1
DMDM Disease mutations23048
Blocks (Seattle)FNBP1
PDB (SRS)2EFL   
PDB (PDBSum)2EFL   
PDB (IMB)2EFL   
PDB (RSDB)2EFL   
Structural Biology KnowledgeBase2EFL   
SCOP (Structural Classification of Proteins)2EFL   
CATH (Classification of proteins structures)2EFL   
SuperfamilyQ96RU3
Human Protein Atlas [tissue]ENSG00000187239-FNBP1 [tissue]
Peptide AtlasQ96RU3
HPRD10446
IPIIPI00807625   IPI00102670   IPI00647034   IPI00807407   IPI00908984   IPI00872076   IPI01013798   
Protein Interaction databases
DIP (DOE-UCLA)Q96RU3
IntAct (EBI)Q96RU3
FunCoupENSG00000187239
BioGRIDFNBP1
STRING (EMBL)FNBP1
ZODIACFNBP1
Ontologies - Pathways
QuickGOQ96RU3
Ontology : AmiGOprotein binding  lysosome  cytosol  cytoskeleton  plasma membrane  clathrin-coated pit  cell cortex  endocytosis  lipid binding  cytoplasmic vesicle  identical protein binding  membrane organization  
Ontology : EGO-EBIprotein binding  lysosome  cytosol  cytoskeleton  plasma membrane  clathrin-coated pit  cell cortex  endocytosis  lipid binding  cytoplasmic vesicle  identical protein binding  membrane organization  
REACTOMEQ96RU3 [protein]
REACTOME PathwaysR-HSA-8856828 [pathway]   
NDEx NetworkFNBP1
Atlas of Cancer Signalling NetworkFNBP1
Wikipedia pathwaysFNBP1
Orthology - Evolution
OrthoDB23048
GeneTree (enSembl)ENSG00000187239
Phylogenetic Trees/Animal Genes : TreeFamFNBP1
HOVERGENQ96RU3
HOGENOMQ96RU3
Homologs : HomoloGeneFNBP1
Homology/Alignments : Family Browser (UCSC)FNBP1
Gene fusions - Rearrangements
Fusion : QuiverFNBP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFNBP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FNBP1
dbVarFNBP1
ClinVarFNBP1
1000_GenomesFNBP1 
Exome Variant ServerFNBP1
ExAC (Exome Aggregation Consortium)ENSG00000187239
GNOMAD BrowserENSG00000187239
Varsome BrowserFNBP1
Genetic variants : HAPMAP23048
Genomic Variants (DGV)FNBP1 [DGVbeta]
DECIPHERFNBP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFNBP1 
Mutations
ICGC Data PortalFNBP1 
TCGA Data PortalFNBP1 
Broad Tumor PortalFNBP1
OASIS PortalFNBP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFNBP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFNBP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch FNBP1
DgiDB (Drug Gene Interaction Database)FNBP1
DoCM (Curated mutations)FNBP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FNBP1 (select a term)
intoGenFNBP1
NCG5 (London)FNBP1
Cancer3DFNBP1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606191   
Orphanet
DisGeNETFNBP1
MedgenFNBP1
Genetic Testing Registry FNBP1
NextProtQ96RU3 [Medical]
TSGene23048
GENETestsFNBP1
Target ValidationFNBP1
Huge Navigator FNBP1 [HugePedia]
snp3D : Map Gene to Disease23048
BioCentury BCIQFNBP1
ClinGenFNBP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23048
Chemical/Pharm GKB GenePA128394597
Clinical trialFNBP1
Miscellaneous
canSAR (ICR)FNBP1 (select the gene name)
Other databaseHUGE
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFNBP1
EVEXFNBP1
GoPubMedFNBP1
iHOPFNBP1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Oct 12 17:58:16 CEST 2018
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