MLLT11 (ALL1 fused gene from chromosome 1q)

1998-04-01   Olivier Bernard 

Unite Inserm U434, CNRS, Institut de Genetique Moleculaire, Paris, France

Identity

HGNC
MLLT11
LOCATION
1q21.3
IMAGE
Atlas Image
LEGEND
AF1q (1q21) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
10962
ALIAS
AF1Q
FUSION GENES
Show Gene Fusions

DNA/RNA

Transcription

1.8 kb mRNA; coding sequence CDS 401... 673

Proteins

Description

90 amino acids; 9 kDa

Expression

detected in various tissues (small intestine, colon, thymus mainly), but not in (normal) mature blood cells; expressed in all leukemic cell lines tested

Function

unknown

Homology

no known homology

Implicated in

Entity name
t(1;11) (q21;q23)/AML --> KMT2A - MLLT11
Disease
AML
Prognosis
yet unknown
Hybrid gene
breakpoints: between exons 6 and 7 in MLL and within the 5 untranslated region in AF1q
Fusion protein
N-term -- AT hook and DNA methyltransferase from MLL fused to the entire AF1q on the der(11); the reciprocal on der(1) is out of frame

Bibliography

Pubmed IDLast YearTitleAuthors
75429101995Molecular basis of 11q23 rearrangements in hematopoietic malignant proliferations.Bernard OA et al
8558942199611q23 rearrangements in acute leukemia.Rubnitz JE et al
78334681995A novel gene, AF1q, fused to MLL in t(1;11) (q21;q23), is specifically expressed in leukemic and immature hematopoietic cells.Tse W et al
89770381996Chromosome abnormalities in leukaemia: the 11q23 paradigm.Young BD et al

Other Information

Locus ID:

NCBI: 10962
MIM: 604684
HGNC: 16997
Ensembl: ENSG00000213190

Variants:

dbSNP: 10962
ClinVar: 10962
TCGA: ENSG00000213190
COSMIC: MLLT11

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000213190ENST00000368921Q13015
ENSG00000213190ENST00000368921Q6FGF7

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid 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
179291662008Identification of the functional role of AF1Q in the progression of breast cancer.21
260795382015AF1q is a novel TCF7 co-factor which activates CD44 and promotes breast cancer metastasis.14
188521192008Oncogene AF1q enhances doxorubicin-induced apoptosis through BAD-mediated mitochondrial apoptotic pathway.11
193968562009Elevated AF1q expression is a poor prognostic marker for adult acute myeloid leukemia patients with normal cytogenetics.11
205966452010AF1q enhancement of gamma irradiation-induced apoptosis by up-regulation of BAD expression via NF-kappaB in human squamous carcinoma A431 cells.11
272592622016MLLT11/AF1q boosts oncogenic STAT3 activity through Src-PDGFR tyrosine kinase signaling.11
227619392012AF1q: a novel mediator of basal and 4-HPR-induced apoptosis in ovarian cancer cells.10
248801252014Degradation of AF1Q by chaperone-mediated autophagy.7
155306612004AF1q, a differentially expressed gene during neuronal differentiation, transforms HEK cells into neuron-like cells.5
217153122011AF1q/MLLT11 regulates the emergence of human prothymocytes through cooperative interaction with the Notch signaling pathway.5

Citation

Olivier Bernard

MLLT11 (ALL1 fused gene from chromosome 1q)

Atlas Genet Cytogenet Oncol Haematol. 1998-04-01

Online version: http://atlasgeneticsoncology.org/gene/12/mllt11