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
MLLT1
LOCATION
19p13.3
LOCUSID
4298
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 IDLast YearTitleAuthors

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
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

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/case-report-explorer/haematological-explorer/css/template-card.css