Written | 2001-03 | Uta Fuchs, Arndt Borkhardt |
Children's University Hospital Giessen, Hematology & Oncology, Feulgenstr. 12, 35392 Giessen, Germany |
Identity |
Alias (NCBI) | FBP17 (Formin Binding Protein 17) | KIAA0554 |
HGNC (Hugo) | FNBP1 |
HGNC Alias symb | FBP17 | KIAA0554 |
LocusID (NCBI) | 23048 |
Atlas_Id | 353 |
Location | 9q34.11 [Link to chromosome band 9q34] |
Location_base_pair | Starts at 129887187 and ends at 130043189 bp from pter ( according to GRCh38/hg38-Dec_2013) [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 |
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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 |
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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 ] |
Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ] |
t(9;11)(q34;q23) FNBP1/KMT2A
t(9;11)(q34;q23) KMT2A/DAB2IP |
External links |
REVIEW articles | automatic search in PubMed |
Last year publications | automatic search in PubMed |
© Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Feb 19 17:50:41 CET 2021 |
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