Written | 1998-04 | Olivier Bernard |
Unite Inserm U434, CNRS, Institut de Genetique Moleculaire, Paris, France |
Identity |
Alias (NCBI) | AF1p (ALL1 fused gene from chromosome 1p) | EPS15 (EGFR Pathway Substrate 15) | MLLT5 (Myeloid/Lymphoid Leukemia Translocated to, 5) |
HGNC (Hugo) | EPS15 |
HGNC Alias symb | AF-1P | MLLT5 |
LocusID (NCBI) | 2060 |
Atlas_Id | 11 |
Location | 1p32.3 [Link to chromosome band 1p32] |
Location_base_pair | Starts at 51354263 and ends at 51519266 bp from pter ( according to GRCh38/hg38-Dec_2013) [Mapping EPS15.png] |
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AF1p (1p32) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. | |
Fusion genes (updated 2017) | Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands) |
EPS15 (1p32.3) / BRAF (7q34) | EPS15 (1p32.3) / EPS15 (1p32.3) | EPS15 (1p32.3) / KMT2A (11q23.3) | |
EPS15 (1p32.3) / OSBPL9 (1p32.3) | EPS15 (1p32.3) / PATJ (1p31.3) | EPS15 (1p32.3) / RASSF3 (12q14.2) | |
FAF1 (1p32.3) / EPS15 (1p32.3) | KMT2A (11q23.3) / EPS15 (1p32.3) | UBE2Z (17q21.32) / EPS15 (1p32.3) | |
DNA/RNA |
Description | coding sequence: CDS 93..2783 |
Transcription | 4.4 kb mRNA |
Protein |
Description | 896 amino acids; NH2 -- coiled-coil region -- DPF repeat -- COOH; oligomerization properties |
Expression | wide |
Localisation | cytoplasmic |
Function | implicated in endocytocis; probable EGF receptor tyrosine kinase substrate. |
Homology | PAN1 (yeast); eps15R (human) |
Implicated in |
Note | |
Entity | t(1;11) (p32;q23)/AML --> KMT2A - EPS15 |
Disease | AMMOL |
Abnormal Protein | N-term -- AT hook and DNA methyltransferase from MLL fused to almost all AF1p |
Bibliography |
Molecular basis of 11q23 rearrangements in hematopoietic malignant proliferations. |
Bernard OA, Berger R |
Genes, chromosomes & cancer. 1995 ; 13 (2) : 75-85. |
PMID 7542910 |
eps15, a novel tyrosine kinase substrate, exhibits transforming activity. |
Fazioli F, Minichiello L, Matoskova B, Wong WT, Di Fiore PP |
Molecular and cellular biology. 1993 ; 13 (9) : 5814-5828. |
PMID 7689153 |
11q23 rearrangements in acute leukemia. |
Rubnitz JE, Behm FG, Downing JR |
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1996 ; 10 (1) : 74-82. |
PMID 8558942 |
Eps15 is a component of clathrin-coated pits and vesicles and is located at the rim of coated pits. |
Tebar F, Sorkina T, Sorkin A, Ericsson M, Kirchhausen T |
The Journal of biological chemistry. 1996 ; 271 (46) : 28727-28730. |
PMID 8910509 |
Pan1p, yeast eps15, functions as a multivalent adaptor that coordinates protein-protein interactions essential for endocytosis. |
Wendland B, Emr SD |
The Journal of cell biology. 1998 ; 141 (1) : 71-84. |
PMID 9531549 |
Chromosome abnormalities in leukaemia: the 11q23 paradigm. |
Young BD, Saha V |
Cancer surveys. 1996 ; 28 : 225-245. |
PMID 8977038 |
Citation |
This paper should be referenced as such : |
Bernard, O |
EPS15 (epidermal growth factor receptor pathway substrate 15) |
Atlas Genet Cytogenet Oncol Haematol. 1998;2(3):70-71. |
Free journal version : [ pdf ] [ DOI ] |
Other Leukemias implicated (Data extracted from papers in the Atlas) [ 4 ] |
11q23 rearrangements (KMT2A) in leukaemia
11q23 rearrangements (KMT2A) in therapy related leukaemias t(1;5)(p32;q31) without TAL1 rearrangement t(1;11)(p32;q23) KMT2A/EPS15 |
Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ] |
EPS15/OSBPL9 (1p32)
t(1;7)(p32;q34) EPS15/BRAF |
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 17:45:09 CET 2021 |
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