FNBP1 (Formin Binding Protein 17)

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FNBP1 (Formin Binding Protein 17)

Written	2001-03	Uta 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 alias	FBP17 (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) [ 1 ]

t(9;11)(q34;q23) FNBP1/KMT2A

External links

	Nomenclature
HGNC (Hugo)	FNBP1 17069
	Cards
Atlas	FBP17ID353
Entrez_Gene (NCBI)	FNBP1 23048 formin binding protein 1
Aliases	FBP17
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 DataPortal	ENSG00000187239
TCGA cBioPortal	FNBP1
AceView (NCBI)	FNBP1
Genatlas (Paris)	FNBP1
WikiGenes	23048
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)
GoldenPath	FNBP1 - 9q34.11 [CytoView hg19] FNBP1 - 9q34.11 [CytoView hg38]
ImmunoBase	ENSG00000187239
Mapping of homologs : NCBI	FNBP1 [Mapview hg19] FNBP1 [Mapview hg38]
OMIM	606191
	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 : Unigene	Hs.189409 [ NCBI ]
CGAP (NCI)	Hs.189409
Alternative Splicing Gallery	ENSG00000187239
Gene Expression	FNBP1 [ 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]
Genevestigator	Expression in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	23048
GTEX Portal (Tissue expression)	FNBP1
Human Protein Atlas	ENSG00000187239-FNBP1 [pathology] [cell] [tissue]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	Q96RU3 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction]
NextProt	Q96RU3 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	Q96RU3
Splice isoforms : SwissVar	Q96RU3
PhosPhoSitePlus	Q96RU3
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 mutations	23048
Blocks (Seattle)	FNBP1
PDB (RSDB)	2EFL
PDB Europe	2EFL
PDB (PDBSum)	2EFL
PDB (IMB)	2EFL
Structural Biology KnowledgeBase	2EFL
SCOP (Structural Classification of Proteins)	2EFL
CATH (Classification of proteins structures)	2EFL
Superfamily	Q96RU3
Human Protein Atlas [tissue]	ENSG00000187239-FNBP1 [tissue]
Peptide Atlas	Q96RU3
HPRD	10446
IPI	IPI00807625 IPI00102670 IPI00647034 IPI00807407 IPI00908984 IPI00872076 IPI01013798
	Protein Interaction databases
DIP (DOE-UCLA)	Q96RU3
IntAct (EBI)	Q96RU3
FunCoup	ENSG00000187239
BioGRID	FNBP1
STRING (EMBL)	FNBP1
ZODIAC	FNBP1
	Ontologies - Pathways
QuickGO	Q96RU3
Ontology : AmiGO	protein binding lysosome cytosol cytoskeleton plasma membrane clathrin-coated pit cell cortex endocytosis lipid binding cytoplasmic vesicle identical protein binding membrane organization
Ontology : EGO-EBI	protein binding lysosome cytosol cytoskeleton plasma membrane clathrin-coated pit cell cortex endocytosis lipid binding cytoplasmic vesicle identical protein binding membrane organization
REACTOME	Q96RU3 [protein]
REACTOME Pathways	R-HSA-8856828 [pathway]
NDEx Network	FNBP1
Atlas of Cancer Signalling Network	FNBP1
Wikipedia pathways	FNBP1
	Orthology - Evolution
OrthoDB	23048
GeneTree (enSembl)	ENSG00000187239
Phylogenetic Trees/Animal Genes : TreeFam	FNBP1
HOGENOM	Q96RU3
Homologs : HomoloGene	FNBP1
Homology/Alignments : Family Browser (UCSC)	FNBP1
	Gene fusions - Rearrangements
Fusion : FusionGDB	13660 13661 13662 15313 16010 22915 27815 37940 41375 538
Fusion : Fusion_Hub	AF1Q--FNBP1 ANKRD10--FNBP1 APBB2--FNBP1 AXIN1--FNBP1 B2M--FNBP1 CISD1--FNBP1 CRLF3--FNBP1 DTX2--FNBP1 FNBP1--ALDH8A1 FNBP1--B2M FNBP1--BAG4 FNBP1--CKB FNBP1--CLU FNBP1--CXCR4 FNBP1--DDX5
	FNBP1--FNBP1 FNBP1--GNAS FNBP1--GPRC5C FNBP1--HDAC1 FNBP1--IFRD1 FNBP1--KDM4C FNBP1--KMT2A FNBP1--LYZ FNBP1--MAPK1 FNBP1--MLL FNBP1--OGN FNBP1--PHF21A FNBP1--PLOD1 FNBP1--SCFD1 FNBP1--SEPT2
	FNBP1--SET FNBP1--SMEK2 FNBP1--STK24 FNBP1--STX8 FNBP1--TCEB2 FNBP1--THRAP3 FNBP1--TOR1B FNBP1--USP20 FNBP1--WDR11 GPR107--FNBP1 H3F3B--FNBP1 HPSE2--FNBP1 IGHG1--FNBP1 ITGB1BP1--FNBP1 KDM5A--FNBP1
	LEMD3--FNBP1 MLL--FNBP1 MX1--FNBP1 NCS1--FNBP1 OPTN--FNBP1 RHEB--FNBP1 RNF10--FNBP1 SEC11A--FNBP1 SULT1B1--FNBP1 TG--FNBP1 TRIO--FNBP1 VAV2--FNBP1 VTI1A--FNBP1 WRNIP1--FNBP1 ZBTB25--FNBP1
	ZFP36L1--FNBP1 ZNF106--FNBP1
Fusion : Quiver	FNBP1
	Polymorphisms : SNP and Copy number variants
NCBI Variation Viewer	FNBP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	FNBP1
dbVar	FNBP1
ClinVar	FNBP1
1000_Genomes	FNBP1
Exome Variant Server	FNBP1
ExAC (Exome Aggregation Consortium)	ENSG00000187239
GNOMAD Browser	ENSG00000187239
Varsome Browser	FNBP1
Genetic variants : HAPMAP	23048
Genomic Variants (DGV)	FNBP1 [DGVbeta]
DECIPHER	FNBP1 [patients] [syndromes] [variants] [genes]
CONAN: Copy Number Analysis	FNBP1
	Mutations
ICGC Data Portal	FNBP1
TCGA Data Portal	FNBP1
Broad Tumor Portal	FNBP1
OASIS Portal	FNBP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMIC	FNBP1 [overview] [genome browser] [tissue] [distribution]
Somatic Mutations in Cancer : COSMIC3D	FNBP1
Mutations and Diseases : HGMD	FNBP1
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
BioMuta	search 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)
intoGen	FNBP1
NCG5 (London)	FNBP1
Cancer3D	FNBP1(select the gene name)
Impact of mutations	[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
	Diseases
OMIM	606191
Orphanet
DisGeNET	FNBP1
Medgen	FNBP1
Genetic Testing Registry	FNBP1
NextProt	Q96RU3 [Medical]
TSGene	23048
GENETests	FNBP1
Target Validation	FNBP1
Huge Navigator	FNBP1 [HugePedia]
snp3D : Map Gene to Disease	23048
BioCentury BCIQ	FNBP1
ClinGen	FNBP1
	Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD	23048
Chemical/Pharm GKB Gene	PA128394597
Clinical trial	FNBP1
	Miscellaneous
canSAR (ICR)	FNBP1 (select the gene name)
DataMed Index	FNBP1
Other database	HUGE
	Probes
	Litterature
PubMed	50 Pubmed reference(s) in Entrez
GeneRIFs	Gene References Into Functions (Entrez)
CoreMine	FNBP1
EVEX	FNBP1
GoPubMed	FNBP1
iHOP	FNBP1

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

indexed on : Wed Nov 13 21:20:57 CET 2019

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