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

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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
259210702015Transcriptional elongation factor ENL phosphorylated by ATM recruits polycomb and switches off transcription for DSB repair.59
282411412017ENL links histone acetylation to oncogenic gene expression in acute myeloid leukaemia.32
126655912003Novel SWI/SNF chromatin-remodeling complexes contain a mixed-lineage leukemia chromosomal translocation partner.26
254561272014Hematopoietic stem cells are intrinsically protected against MLL-ENL-mediated transformation.19
236234992013MLL-ENL inhibits polycomb repressive complex 1 to achieve efficient transformation of hematopoietic cells.13
266352032015MLLT1 YEATS domain mutations in clinically distinctive Favourable Histology Wilms tumours.11
164339012006Simultaneous localization of MLL, AF4 and ENL genes in interphase nuclei by 3D-FISH: MLL translocation revisited.8
172520162007Spliced MLL fusions: a novel mechanism to generate functional chimeric MLL-MLLT1 transcripts in t(11;19)(q23;p13.3) leukemia.7
201138342010Three-way translocation involving MLL, MLLT1, and a novel third partner, NRXN1, in a patient with acute lymphoblastic leukemia and t(2;19;11) (p12;p13.3;q23).5

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/mllt1