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FLASH GENE

Symbol

MLLT3

contributors: mct/ - updated : 06-06-2014

HGNC name	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3
HGNC id	7136

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	9p21.3      Physical location : 20.344.967 - 20.622.514
Synonym name	AF-9 protein
	ALL1-fused gene from chromosome 9 protein
	YEATS domain-containing protein 3
	myeloid/lymphoid or mixed-lineage leukemia translocated to chromosome 3 protein
Synonym symbol(s)	AF9, LTG9, FLJ2035, YEATS3

DNA

TYPE	functioning gene
STRUCTURE	280.88 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	scaffold attachement regions/matrix attachement regions
text structure	SAR/MAR, two SARs at the border of AF9 BCR

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004529 11 - 6787 NP_004520 63.2 568 - 2000 1086129 NM_001286691 11 - 6703 NP_001273620 - 565 - 2000 1086129

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain forebrain cerebral lobe frontal   Reproductive female system ovary     highly Respiratory respiratory tract larynx     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	serine/proline rich nuclear protein
	nuclear targeting sequence
	YEATS domain

HOMOLOGY

interspecies	homolog to Drosophila trithorax
	homolog to C.elegans t09d3.3

intraspecies

homolog to MLLT1

Homologene

FAMILY

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	involved in cell growth and in maintenance, and in oncogenesis
	required in the elaboration of the erythroid and megakaryocytic lineages (Pina 2008)
	regulator of early erythroid and megakaryocytic cell fate in the human system (Pina 2008)
	strongly augments the ANKRD6-driven activation of JUN-terminal kinase (JNK)-dependent gene expression in the nucleus, and this augmentation largely depends on the presence of nuclear ANKRD6

CELLULAR PROCESS	cell life

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	ANKRD6 in the nucleus, interacts with the transcription factor MLLT3
	ANKRD6, and MLLT3 block canonical WNT signaling; however, this occurs independently of each other, and does not require nuclear ANKRD6
	direct interaction between MLLT3/MLLT1 and DOT1L and for optimal interaction an intact C-terminal domain in MLL fusion proteins is critical

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       with HRX (MLL), in acute myeloid/lymphoid, in monoblastic leukemia with granulocytic sarcomas mixed-lineage leukemia and translocation t(9;11)(p22;q23) tumoral   translocation     in acute myeloid/lymphoid, monoblastic leukemia tumoral   translocation     involves MLL, MLLT3, and CCDC94, in the pathogenesis of acute myeloid leukemia with t(9;11;19)(p22;q23;p13.3)

Susceptibility

Variant & Polymorphism

Candidate gene	candidate regulator of erythroid/megakaryocytic (E/Meg) lineage decisions (Pina 2008)
Marker
Therapy target
	System Type Disorder Pubmed cancer hemopathy   disruption of interaction between DOT1L and MLLT3/MLLT1 is a promising therapeutic strategy with potentially fewer adverse effects than enzymatic inhibition of DOT1L for KMT2A fusion protein-associated leukemia

ANIMAL & CELL MODELS