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MLLT3 (myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3)

Written1997-12Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


Other aliasLTG9
AF9 (ALL1 fused gene from chromosome 9)
LocusID (NCBI) 4300
Atlas_Id 5
Location 9p21.3  [Link to chromosome band 9p21]
Location_base_pair Starts at and ends at bp from pter
  AF9 (9p22) - 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)
KMT2A (11q23.3) / MLLT3 (9p21.3)KMT2B (19q13.12) / MLLT3 (9p21.3)MLLT3 (9p21.3) / CISD3 (17q12)
MLLT3 (9p21.3) / IZUMO3 (9p21.3)MLLT3 (9p21.3) / KMT2A (11q23.3)MLLT3 (9p21.3) / SLC28A3 (9q21.32)
PAX5 (9p13.2) / MLLT3 (9p21.3)SCFD1 (14q12) / MLLT3 (9p21.3)


Transcription 5 kb mRNA; coding sequence: 1.7 kb


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 t(9;11) (p22;q23)/AML -->KMT2A -MLLT3
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/Mutated Gene variable breakpoints on both genes
Abnormal 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)


Implication of prior treatment with drug combinations including inhibitors of topoisomerase II in therapy-related monocytic leukemia with a 9;11 translocation.
Albain KS, Le Beau MM, Ullirsch R, Schumacher H
Genes, chromosomes & cancer. 1990 ; 2 (1) : 53-58.
PMID 2177642
Molecular basis of 11q23 rearrangements in hematopoietic malignant proliferations.
Bernard OA, Berger R
Genes, chromosomes & cancer. 1995 ; 13 (2) : 75-85.
PMID 7542910
Identification of MLL and chimeric MLL gene products involved in 11q23 translocation and possible mechanisms of leukemogenesis by MLL truncation.
Joh T, Kagami Y, Yamamoto K, Segawa T, Takizawa J, Takahashi T, Ueda R, Seto M
Oncogene. 1996 ; 13 (9) : 1945-1953.
PMID 8934541
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
Chromosome abnormalities in leukaemia: the 11q23 paradigm.
Young BD, Saha V
Cancer surveys. 1996 ; 28 : 225-245.
PMID 8977038


This paper should be referenced as such :
Huret, JL
AF9 (ALL1 fused gene from chromosome 9)
Atlas Genet Cytogenet Oncol Haematol. 1997;1(2):58-58.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 14 ]
  11q23 rearrangements (KMT2A) in therapy related leukaemias
t(9;11)(p21;q23) KMT2A/MLLT3
t(9;9)(p13;p21) PAX5/MLLT3
t(9;11)(p21;q23) KMT2A/MLLT3
11q23 rearrangements (KMT2A) in de novo childhood acute myeloid leukemia
11q23 rearrangements (KMT2A) in leukaemia
11q23 rearrangements (KMT2A) in therapy related leukaemias
del(9p) in Acute Lymphoblastic Leukemia
Infant leukaemias::Congenital leukaemias::Neonatal leukaemias
t(6;11)(q27;q23) KMT2A/AFDN
t(9;11)(p21;q23) KMT2A/MLLT3
t(11;16)(q23;p13.3) KMT2A/CREBBP
t(9;9)(p13;p21) PAX5/MLLT3
t(9;11)(p21;q23) KMT2A/MLLT3

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  MLLT3/IZUMO3 (9p21)
t(9;9)(p21;q21) MLLT3/SLC28A3
t(9;17)(p21;q12) MLLT3/CISD3

External links

Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)4300
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
canSAR (ICR) (select the gene name)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Oct 18 17:27:39 CEST 2018

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