MLLT3 (myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3)
1997-12-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
9p21.3
IMAGE
LEGEND
AF9 (9p22) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
FUSION GENES
DNA/RNA
Transcription
5 kb mRNA; coding sequence: 1.7 kb
Proteins
Description
568 amino acids; 63 kDa; serine and proline rich in many
places; possesses a nuclear targeting sequence
Localisation
nuclear
Function
transcription activator
Homology
with ENL (human)
Implicated in
Entity name
Disease
M5/M4 de novo and therapy related AML
Prognosis
the prognosis may not be as poor as in other 11q23 leukaemias in
de novo cases; very poor prognosis in secondary AML cases
Cytogenetics
may be overlooked; often as a sole anomaly
Hybrid gene
variable breakpoints on both genes
Fusion protein
N-term -- AT hook and DNA methyltransferase from MLL fused to the
192 C-term amino acids from AF9 (as breakpoints are variable, this is only
an exemple)
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 2177642 | 1990 | Implication of prior treatment with drug combinations including inhibitors of topoisomerase II in therapy-related monocytic leukemia with a 9;11 translocation. | Albain KS et al |
| 7542910 | 1995 | Molecular basis of 11q23 rearrangements in hematopoietic malignant proliferations. | Bernard OA et al |
| 8934541 | 1996 | Identification of MLL and chimeric MLL gene products involved in 11q23 translocation and possible mechanisms of leukemogenesis by MLL truncation. | Joh T et al |
| 8558942 | 1996 | 11q23 rearrangements in acute leukemia. | Rubnitz JE et al |
| 8977038 | 1996 | Chromosome abnormalities in leukaemia: the 11q23 paradigm. | Young BD et al |
Other Information
Locus ID:
NCBI: 4300
MIM: 159558
HGNC: 7136
Ensembl: ENSG00000171843
Variants:
dbSNP: 4300
ClinVar: 4300
TCGA: ENSG00000171843
COSMIC: MLLT3
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA443450 | Asthma | Disease | ClinicalAnnotation | associated | PD | 26083242 | |
| PA443512 | Urinary Bladder Neoplasms | Disease | ClinicalAnnotation | associated | PD | 27150640 | |
| PA449014 | cisplatin | Chemical | ClinicalAnnotation | associated | PD | 27150640 | |
| PA450546 | montelukast | Chemical | ClinicalAnnotation | associated | PD | 26083242 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38576284 | 2024 | Impact of MLL::AF9 Gene Rearrangement on Survival of Acute Myeloid Leukaemia Patients: An Insight into Pakistani Population. | 0 |
| 38576284 | 2024 | Impact of MLL::AF9 Gene Rearrangement on Survival of Acute Myeloid Leukaemia Patients: An Insight into Pakistani Population. | 0 |
| 36358022 | 2023 | The adverse impact of ecotropic viral integration site-1 (EVI1) overexpression on the prognosis of acute myeloid leukemia with KMT2A gene rearrangement in different risk stratification subtypes. | 1 |
| 37108167 | 2023 | Molecular Recognition of Methacryllysine and Crotonyllysine by the AF9 YEATS Domain. | 0 |
| 37565737 | 2023 | AF9 sustains glycolysis in colorectal cancer via H3K9ac-mediated PCK2 and FBP1 transcription. | 1 |
| 36358022 | 2023 | The adverse impact of ecotropic viral integration site-1 (EVI1) overexpression on the prognosis of acute myeloid leukemia with KMT2A gene rearrangement in different risk stratification subtypes. | 1 |
| 37108167 | 2023 | Molecular Recognition of Methacryllysine and Crotonyllysine by the AF9 YEATS Domain. | 0 |
| 37565737 | 2023 | AF9 sustains glycolysis in colorectal cancer via H3K9ac-mediated PCK2 and FBP1 transcription. | 1 |
| 34174329 | 2022 | The Intrinsically Disordered Proteins MLLT3 (AF9) and MLLT1 (ENL) - Multimodal Transcriptional Switches With Roles in Normal Hematopoiesis, MLL Fusion Leukemia, and Kidney Cancer. | 11 |
| 34174329 | 2022 | The Intrinsically Disordered Proteins MLLT3 (AF9) and MLLT1 (ENL) - Multimodal Transcriptional Switches With Roles in Normal Hematopoiesis, MLL Fusion Leukemia, and Kidney Cancer. | 11 |
| 33221433 | 2021 | The miR-5694/AF9/Snail Axis Provides Metastatic Advantages and a Therapeutic Target in Basal-like Breast Cancer. | 8 |
| 33928666 | 2021 | The Transcriptional Coactivator, ALL1-Fused Gene From Chromosome 9, Simultaneously Sustains Hypoxia Tolerance and Metabolic Advantages in Liver Cancer. | 7 |
| 33221433 | 2021 | The miR-5694/AF9/Snail Axis Provides Metastatic Advantages and a Therapeutic Target in Basal-like Breast Cancer. | 8 |
| 33928666 | 2021 | The Transcriptional Coactivator, ALL1-Fused Gene From Chromosome 9, Simultaneously Sustains Hypoxia Tolerance and Metabolic Advantages in Liver Cancer. | 7 |
| 32954361 | 2020 | BCOR Binding to MLL-AF9 Is Essential for Leukemia via Altered EYA1, SIX, and MYC Activity. | 12 |
Citation
Jean-Loup Huret
MLLT3 (myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3)
Atlas Genet Cytogenet Oncol Haematol. 1997-12-01
Online version: http://atlasgeneticsoncology.org/gene/5/mllt3-(myeloid-lymphoid-or-mixed-lineage-leukemia-(trithorax-homolog-drosophila)
