FBP17 (Formin Binding Protein 17)

Identity

Other names	KIAA0554
HGNC	FNBP1
Location	9q34
Location_base_pair	Starts at 131689287 and ends at 131845294 bp from pter ( according to hg18-Mar_2006).
Local_order	centromeric of ABL

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

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

External links

	Nomenclature
HGNC	FNBP1   17069
Entrez_Gene	FNBP1  23048  formin binding protein 1
	Cards
Atlas	FBP17ID353
GeneCards	FNBP1
Ensembl	FNBP1 [Search_View]   ENSG00000187239 [Gene_View]  FNBP1 [Vega]
Genatlas	FNBP1
GeneLynx	FNBP1
eGenome	FNBP1
euGene	23048
	Genomic and cartography
GoldenPath	FNBP1  -  9q34   chr9:131689287-131845294 -  9q34   [Description]    (hg18-Mar_2006)
Ensembl	FNBP1 - 9q34 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	FNBP1
	Gene and transcription
Genbank	AB011126 [ ENTREZ ]
Genbank	AF265550 [ ENTREZ ]
Genbank	AK000975 [ ENTREZ ]
Genbank	AK001616 [ ENTREZ ]
Genbank	AK023681 [ ENTREZ ]
RefSeq	NM_015033 [ SRS ]    NM_015033 [ ENTREZ ]
RefSeq	AC_000052 [ SRS ]    AC_000052 [ ENTREZ ]
RefSeq	AC_000141 [ SRS ]    AC_000141 [ ENTREZ ]
RefSeq	NC_000009 [ SRS ]    NC_000009 [ ENTREZ ]
RefSeq	NT_008470 [ SRS ]    NT_008470 [ ENTREZ ]
RefSeq	NW_001839239 [ SRS ]    NW_001839239 [ ENTREZ ]
RefSeq	NW_924573 [ SRS ]    NW_924573 [ ENTREZ ]
CCDS	FNBP1 CCDS - NCBI
AceView	FNBP1 AceView - NCBI
Unigene	Hs.189409 [ SRS ]    Hs.189409 [ NCBI ]     HS189409 [ spliceNest ]
Fast-db	16192 (alternative variants)
	Protein : pattern, domain, 3D structure
HPRD	10446
	Protein Interaction databases
	Polymorphism : SNP, mutations, diseases
OMIM	606191    [ map ]
GENECLINICS	606191
SNP	FNBP1 [dbSNP-NCBI]
SNP	NM_015033 [SNP-NCI]
SNP	FNBP1 [GeneSNPs - Utah]  FNBP1] [HGBASE - SRS]
HAPMAP	FNBP1 [HAPMAP]
HGMD	FNBP1
Genetic Association	FNBP1
CDC HuGE	FNBP1
	General knowledge
Family Browser	FNBP1 [UCSC Family Browser]
SOURCE	NM_015033
SMD	Hs.189409
SAGE	Hs.189409
GO	cytoplasm [Amigo]  cytoplasm
GO	lysosome [Amigo]  lysosome
GO	cytoskeleton [Amigo]  cytoskeleton
GO	plasma membrane [Amigo]  plasma membrane
GO	endocytosis [Amigo]  endocytosis
GO	lipid binding [Amigo]  lipid binding
GO	cytoplasmic vesicle [Amigo]  cytoplasmic vesicle
GO	identical protein binding [Amigo]  identical protein binding
PubGene	FNBP1
TreeFam	FNBP1
CTD	23048 [Comparative ToxicoGenomics Database]
	Other databases
Other database	HUGE
	Probes
Probe	FNBP1 Related clones (RZPD - Berlin)
	PubMed
PubMed	23 Pubmed reference(s) in Entrez

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, K‰çnig 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

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

Search in all EBI   NCBI

Contributor(s)

Written	03-2001	Uta Fuchs, Arndt Borkhardt
		Children's University Hospital Giessen, Hematology & Oncology, Feulgenstr. 12, 35392 Giessen, Germany

Citation

This paper should be referenced as such :

Fuchs U, Borkhardt A . FBP17 (Formin Binding Protein 17). Atlas Genet Cytogenet Oncol Haematol. March 2001 . URL : http://AtlasGeneticsOncology.org/Genes/FBP17ID353.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sun Nov 9 19:40:39 2008