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

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

1997-12-01 Jean-Loup Huret Affiliation

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

Identity

HGNC

LOCATION

19p13.3

LOCUSID

FUSION GENES

Show Gene Fusions

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 ID	Last Year	Title	Authors
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
1423624	1992	Involvement of a homolog of Drosophila trithorax by 11q23 chromosomal translocations in acute leukemias.	Tkachuk DC et al
8977038	1996	Chromosome 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 ID	Transcript ID	Uniprot
ENSG00000130382	ENST00000252674	Q03111

Expression (GTEx)

0

50

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Transcriptional misregulation in cancer	KEGG	ko05202
Transcriptional misregulation in cancer	KEGG	hsa05202
Gene Expression	REACTOME	R-HSA-74160
RNA Polymerase II Transcription	REACTOME	R-HSA-73857
RNA Polymerase II Pre-transcription Events	REACTOME	R-HSA-674695
RNA Polymerase II Transcription Elongation	REACTOME	R-HSA-75955
Formation of RNA Pol II elongation complex	REACTOME	R-HSA-112382

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
36435883	2023	The ENL YEATS epigenetic reader domain critically links MLL-ENL to leukemic stem cell frequency in t(11;19) Leukemia.	4
36735043	2023	Circvrk1 downregulation attenuates brain microvascular endothelial cell damage induced by oxygen-glucose deprivation through modulating the miR-150-5p/MLLT1 axis.	0
36435883	2023	The ENL YEATS epigenetic reader domain critically links MLL-ENL to leukemic stem cell frequency in t(11;19) Leukemia.	4
36735043	2023	Circvrk1 downregulation attenuates brain microvascular endothelial cell damage induced by oxygen-glucose deprivation through modulating the miR-150-5p/MLLT1 axis.	0
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
34853079	2022	KAT6A and ENL Form an Epigenetic Transcriptional Control Module to Drive Critical Leukemogenic Gene-Expression Programs.	25
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
34853079	2022	KAT6A and ENL Form an Epigenetic Transcriptional Control Module to Drive Critical Leukemogenic Gene-Expression Programs.	25
33749253	2021	Structure and Inhibitor Binding Characterization of Oncogenic MLLT1 Mutants.	3
33749253	2021	Structure and Inhibitor Binding Characterization of Oncogenic MLLT1 Mutants.	3
31405949	2019	The efficiency of murine MLL-ENL-driven leukemia initiation changes with age and peaks during neonatal development.	15
31405949	2019	The efficiency of murine MLL-ENL-driven leukemia initiation changes with age and peaks during neonatal development.	15
30066088	2018	ENL: structure, function, and roles in hematopoiesis and acute myeloid leukemia.	9
30066088	2018	ENL: structure, function, and roles in hematopoiesis and acute myeloid leukemia.	9
28241141	2017	ENL 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/case-report-explorer/gene-explorer/js/lib/bootstrap.min.js