MLLT6 (myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6)

1997-12-01 Jean-Loup Huret Affiliation

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

Identity

HGNC

MLLT6

LOCATION

17q12

IMAGE

LEGEND

Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics

LOCUSID

4302

FUSION GENES

Show Gene Fusions

DNA/RNA

Transcription

7.5 and 5 kb mRNA; coding sequence: 3.3 kb

Proteins

Description

1093 amino acids; N- term - 3 Zn fingers (LAP type) and a leucine zipper - C-term; a leucine zipper is a dimerization motif

Localisation

nuclear

Function

transcriptional regulation factor

Homology

with AF10 and BR140, a gene sitting in 3p25

Implicated in

Entity name

t(11;17)(q23;q21) /AML --> KMT2A -AF17

Disease

AML and MDS

Cytogenetics

additional anomaly: +8

Hybrid gene

5 MLL - 3 AF17

Fusion protein

N-term AT hook and DNA methyltransferase from MLL fused to the leucine zipper C-term of AF17

Article Bibliography

Pubmed ID	Last Year	Title	Authors
7542910	1995	Molecular basis of 11q23 rearrangements in hematopoietic malignant proliferations.	Bernard OA et al
8058765	1994	Leucine-zipper dimerization motif encoded by the AF17 gene fused to ALL-1 (MLL) in acute leukemia.	Prasad R et al
8558942	1996	11q23 rearrangements in acute leukemia.	Rubnitz JE et al
8977038	1996	Chromosome abnormalities in leukaemia: the 11q23 paradigm.	Young BD et al

Other Information

Locus ID:

NCBI: 4302
MIM: 600328
HGNC: 7138
Ensembl: ENSG00000275023

Variants:

dbSNP: 4302
ClinVar: 4302
TCGA: ENSG00000275023
COSMIC: MLLT6

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000275023	ENST00000615858	A0A087WVY1
ENSG00000275023	ENST00000620609	Q6P2C6
ENSG00000275023	ENST00000621332	P55198

Expression (GTEx)

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

References

Pubmed ID	Year	Title	Citations
33063451	2020	MLLT6 maintains PD-L1 expression and mediates tumor immune resistance.	9
33063451	2020	MLLT6 maintains PD-L1 expression and mediates tumor immune resistance.	9
19864429	2009	AF17 competes with AF9 for binding to Dot1a to up-regulate transcription of epithelial Na+ channel alpha.	31
19864429	2009	AF17 competes with AF9 for binding to Dot1a to up-regulate transcription of epithelial Na+ channel alpha.	31
16086288	2005	[Application of reverse transcription-multiplex nested PCR to detect MLL rearrangement in AML-M4/M5].	0
16086288	2005	[Application of reverse transcription-multiplex nested PCR to detect MLL rearrangement in AML-M4/M5].	0

Citation

Jean-Loup Huret

MLLT6 (myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6)

Atlas Genet Cytogenet Oncol Haematol. 1997-12-01

Online version: http://atlasgeneticsoncology.org/gene/7/mllt6-(myeloid-lymphoid-or-mixed-lineage-leukemia-(trithorax-homolog-drosophila);-translocated-to-6)