MLLT1 (myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1)

1997-12-01   Jean-Loup Huret  

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
LOCATION
19p13.3
LOCUSID
FUSION GENES

DNA/RNA

Transcription

4.7 kb mRNA; coding sequence: 1.7 kb

Proteins

Description

559 amino acids; 62 kDa; serine/proline rich protein; contains a nuclear targeting sequence and a consensus sequence for ATP/GTP binding

Expression

wide

Localisation

nuclear

Function

transcription activator

Homology

with AF9

Implicated in

Entity name
t(11.19)(q23;p13.3) /acute leukaemias --> KMT2A - MLLT1
Disease
ALL (CD19+), biphenotypic AL, AML (M4/M5); mainly congenital; treatment related leukaemia
Prognosis
very poor, except in rare T-cell cases
Cytogenetics
detected with G banding
Hybrid gene
5 MLL - 3 ENL
Fusion protein
AT hook and DNA methyltransferase from MLL fused to, most often, the nearly entire ENL

Article Bibliography

Pubmed IDLast YearTitleAuthors
75429101995Molecular basis of 11q23 rearrangements in hematopoietic malignant proliferations.Bernard OA et al
89345411996Identification of MLL and chimeric MLL gene products involved in 11q23 translocation and possible mechanisms of leukemogenesis by MLL truncation.Joh T et al
8558942199611q23 rearrangements in acute leukemia.Rubnitz JE et al
14236241992Involvement of a homolog of Drosophila trithorax by 11q23 chromosomal translocations in acute leukemias.Tkachuk DC et al
89770381996Chromosome abnormalities in leukaemia: the 11q23 paradigm.Young BD et al

Other Information

Locus ID:

NCBI: 4298
MIM: 159556
HGNC: 7134
Ensembl: ENSG00000130382

Variants:

dbSNP: 4298
ClinVar: 4298
TCGA: ENSG00000130382
COSMIC: MLLT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130382ENST00000252674Q03111

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase II TranscriptionREACTOMER-HSA-73857
RNA Polymerase II Pre-transcription EventsREACTOMER-HSA-674695
RNA Polymerase II Transcription ElongationREACTOMER-HSA-75955
Formation of RNA Pol II elongation complexREACTOMER-HSA-112382

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
364358832023The ENL YEATS epigenetic reader domain critically links MLL-ENL to leukemic stem cell frequency in t(11;19) Leukemia.4
367350432023Circvrk1 downregulation attenuates brain microvascular endothelial cell damage induced by oxygen-glucose deprivation through modulating the miR-150-5p/MLLT1 axis.0
364358832023The ENL YEATS epigenetic reader domain critically links MLL-ENL to leukemic stem cell frequency in t(11;19) Leukemia.4
367350432023Circvrk1 downregulation attenuates brain microvascular endothelial cell damage induced by oxygen-glucose deprivation through modulating the miR-150-5p/MLLT1 axis.0
341743292022The Intrinsically Disordered Proteins MLLT3 (AF9) and MLLT1 (ENL) - Multimodal Transcriptional Switches With Roles in Normal Hematopoiesis, MLL Fusion Leukemia, and Kidney Cancer.11
348530792022KAT6A and ENL Form an Epigenetic Transcriptional Control Module to Drive Critical Leukemogenic Gene-Expression Programs.25
341743292022The Intrinsically Disordered Proteins MLLT3 (AF9) and MLLT1 (ENL) - Multimodal Transcriptional Switches With Roles in Normal Hematopoiesis, MLL Fusion Leukemia, and Kidney Cancer.11
348530792022KAT6A and ENL Form an Epigenetic Transcriptional Control Module to Drive Critical Leukemogenic Gene-Expression Programs.25
337492532021Structure and Inhibitor Binding Characterization of Oncogenic MLLT1 Mutants.3
337492532021Structure and Inhibitor Binding Characterization of Oncogenic MLLT1 Mutants.3
314059492019The efficiency of murine MLL-ENL-driven leukemia initiation changes with age and peaks during neonatal development.15
314059492019The efficiency of murine MLL-ENL-driven leukemia initiation changes with age and peaks during neonatal development.15
300660882018ENL: structure, function, and roles in hematopoiesis and acute myeloid leukemia.9
300660882018ENL: structure, function, and roles in hematopoiesis and acute myeloid leukemia.9
282411412017ENL links histone acetylation to oncogenic gene expression in acute myeloid leukaemia.123

Citation

Jean-Loup Huret

MLLT1 (myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1)

Atlas Genet Cytogenet Oncol Haematol. 1997-12-01

Online version: http://atlasgeneticsoncology.org/gene/9/gene-fusions-explorer/favicon/js/lib/popper.js