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FLASH GENE

Symbol

MLLT1

contributors: mct/npt - updated : 26-03-2014

HGNC name	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1
HGNC id	7134

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	19p13.3      Physical location : 6.210.392 - 6.279.959
Synonym name	leukemia translocation gene on chromosome 19
	eleven nineteen leukemia
	MLLT1/MLL fusion
	ENL/MLL fusion
	YEATS domain-containing protein 1
Synonym symbol(s)	ENL, LTG19, YEATS1

DNA

TYPE	functioning gene
STRUCTURE	69.57 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005934 12 - 4530 NP_005925 - 559 - Meyer (2007)

EXPRESSION

Type

constitutive of

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 Reproductive female system breast mammary gland       female system ovary       Respiratory respiratory tract larynx

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	serine/proline rich nuclear protein
	C-terminal domain from MLLT1 is required for optimal interaction with DOT1L

HOMOLOGY

intraspecies

homolog to mllt3

Homologene

FAMILY

CATEGORY

DNA associated , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	activating transcription in lymphoid and myeloid cells
	involved in essential developmental processes and suggest that expression patterns of MLL fusion partners may influence the lineage of MLL-associated leukemias (Doty 2002)
	may have a function in histone modification and transcriptional elongation (Mueller 2007)
	MLLT1 protein isoforms display distinct stage-specific expression during spermiogenesis and adult tissues

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

text	transcription activating factor

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	binding to c-Abl interactor protein (SSH3BP1) with CBX8
	the entire C-terminal domain from MLLT1 is required for optimal interaction with DOT1L, which is consistent with the reports that helical segments are essential for the transformation potential of MLL-MLLT1 fusion protein
	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   translocation     translocation (t(11;19)(q23;p13.3) are associated with de novo acute leukemia as well as therapy-related acute leukemia (Lee 2010) tumoral   translocation     three-way translocation of t(2;19;11)(p12;p13.3;q23) in a patient with acute lymphoblastic leukemia (ALL)(Lee 2010)

Susceptibility

Variant & Polymorphism

Candidate gene
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