Written | 1998-04 | Olivier Bernard |
Unite Inserm U434, CNRS, Institut de Genetique Moleculaire, Paris, France |
Identity |
Alias (NCBI) | AF1q (ALL1 fused gene from chromosome 1q) |
HGNC (Hugo) | MLLT11 |
HGNC Alias symb | AF1Q |
HGNC Alias name | ALL1 fused gene from chromosome 1q |
HGNC Previous name | myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11 | myeloid/lymphoid or mixed-lineage leukemia; translocated to, 11 |
LocusID (NCBI) | 10962 |
Atlas_Id | 12 |
Location | 1q21.3 [Link to chromosome band 1q21] |
Location_base_pair | Starts at 151060397 and ends at 151069544 bp from pter ( according to GRCh38/hg38-Dec_2013) [Mapping MLLT11.png] |
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AF1q (1q21) - 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) |
GABPB2 (1q21.3) / MLLT11 (1q21.3) | KMT2A (11q23.3) / MLLT11 (1q21.3) | MLLT11 (1q21.3) / ENC1 (5q13.3) | |
MLLT11 (1q21.3) / KMT2A (11q23.3) | PIP5K1A (1q21.3) / MLLT11 (1q21.3) | SHMT1 (17p11.2) / MLLT11 (1q21.3) | |
DNA/RNA |
Transcription | 1.8 kb mRNA; coding sequence CDS 401... 673 |
Protein |
Description | 90 amino acids; 9 kDa |
Expression | detected in various tissues (small intestine, colon, thymus mainly), but not in (normal) mature blood cells; expressed in all leukemic cell lines tested |
Function | unknown |
Homology | no known homology |
Implicated in |
Note | |
Entity | t(1;11) (q21;q23)/AML --> KMT2A - MLLT11 |
Disease | AML |
Prognosis | yet unknown |
Hybrid/Mutated Gene | breakpoints: between exons 6 and 7 in MLL and within the 5' untranslated region in AF1q |
Abnormal Protein | N-term -- AT hook and DNA methyltransferase from MLL fused to the entire AF1q on the der(11); the reciprocal on der(1) is out of frame |
Bibliography |
Molecular basis of 11q23 rearrangements in hematopoietic malignant proliferations. |
Bernard OA, Berger R |
Genes, chromosomes & cancer. 1995 ; 13 (2) : 75-85. |
PMID 7542910 |
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 |
A novel gene, AF1q, fused to MLL in t(1;11) (q21;q23), is specifically expressed in leukemic and immature hematopoietic cells. |
Tse W, Zhu W, Chen HS, Cohen A |
Blood. 1995 ; 85 (3) : 650-656. |
PMID 7833468 |
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 |
AF1q (ALL1 fused gene from chromosome 1q) |
Atlas Genet Cytogenet Oncol Haematol. 1998;2(3):72-72. |
Free journal version : [ pdf ] [ DOI ] |
Other Leukemias implicated (Data extracted from papers in the Atlas) [ 6 ] |
Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ] |
GABPB2/MLLT11 (1q21)
PIP5K1A/MLLT11 (1q21) |
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 Jan 1 18:46:04 CET 2021 |
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