MLLT1 (myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1)

Identity

Other names	ENL (eleven nineteen leukemia)
	LTG19
	MLLT1 (myeloid/lymphoid leukemia translocated to, 1)
HGNC	MLLT1
Location	19p13.3
Location_base_pair	Starts at 6161392 and ends at 6230959 bp from pter ( according to hg18-Mar_2006).
Local_order	not far from E2A, also in 19p13.3; LYL1 is in 19p13.2-p13.1 and ELL in 19p13.1

DNA/RNA

Transcription

4.7 kb mRNA; coding sequence: 1.7 kb

Protein

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	t(11.19)(q23;p13.3) /acute leukaemias --> MLL - ENL
Disease	ALL (CD19+), biphenotypic AL, ANLL (M4/M5); mainly congenital; treatment related leukaemia
Prognosis	very poor, except in rare T-cell cases
Cytogenetics	detected with G banding
Hybrid/Mutated Gene	5' MLL - 3' ENL
Abnormal Protein	AT hook and DNA methyltransferase from MLL fused to, most often, the nearly entire ENL

External links

	Nomenclature
HGNC	MLLT1   7134
Entrez_Gene	MLLT1  4298  myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1
	Cards
Atlas	ENL
GeneCards	MLLT1
Ensembl	MLLT1 [Search_View]   ENSG00000130382 [Gene_View]  MLLT1 [Vega]
Genatlas	MLLT1
GeneLynx	MLLT1
eGenome	MLLT1
euGene	4298
	Genomic and cartography
GoldenPath	MLLT1  -  19p13.3   chr19:6161392-6230959 -  19p13.3   [Description]    (hg18-Mar_2006)
Ensembl	MLLT1 - 19p13.3 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	MLLT1
	Gene and transcription
Genbank	AL365410 [ ENTREZ ]
Genbank	BC047008 [ ENTREZ ]
Genbank	BC063667 [ ENTREZ ]
Genbank	BC084564 [ ENTREZ ]
Genbank	BC146318 [ ENTREZ ]
RefSeq	NM_005934 [ SRS ]    NM_005934 [ ENTREZ ]
RefSeq	AC_000062 [ SRS ]    AC_000062 [ ENTREZ ]
RefSeq	AC_000151 [ SRS ]    AC_000151 [ ENTREZ ]
RefSeq	NC_000019 [ SRS ]    NC_000019 [ ENTREZ ]
RefSeq	NT_011255 [ SRS ]    NT_011255 [ ENTREZ ]
RefSeq	NW_001838477 [ SRS ]    NW_001838477 [ ENTREZ ]
RefSeq	NW_927173 [ SRS ]    NW_927173 [ ENTREZ ]
CCDS	MLLT1 CCDS - NCBI
AceView	MLLT1 AceView - NCBI
Unigene	Hs.713525 [ SRS ]    Hs.713525 [ NCBI ]     HS713525 [ spliceNest ]
Fast-db	3542 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q03111 [ SRS]    Q03111 [ EXPASY ]     Q03111 [ INTERPRO ]     Q03111 [ UNIPROT ] Q03111 [ VarSplice ]
Prosite	PS51037 YEATS [ SRS ]    PS51037 YEATS [ Expasy ]
Interpro	IPR005033 YEATS [ SRS ]    IPR005033 YEATS [ EBI ]
CluSTr	Q03111
Pfam	PF03366 YEATS [ SRS ]    PF03366 YEATS [ Sanger ]    pfam03366 [ NCBI-CDD ]
Blocks	Q03111
HPRD	15933
	Protein Interaction databases
DIP	Q03111
IntAct	Q03111
	Polymorphism : SNP, mutations, diseases
OMIM	159556    [ map ]
GENECLINICS	159556
SNP	MLLT1 [dbSNP-NCBI]
SNP	NM_005934 [SNP-NCI]
SNP	MLLT1 [GeneSNPs - Utah]  MLLT1] [HGBASE - SRS]
HAPMAP	MLLT1 [HAPMAP]
COSMIC	MLLT1 [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	MLLT1 [Translocation breakpoints In Cancer]
HGMD	MLLT1
Genetic Association	MLLT1
CDC HuGE	MLLT1
	General knowledge
Family Browser	MLLT1 [UCSC Family Browser]
SOURCE	NM_005934
SMD	Hs.713525
SAGE	Hs.713525
GO	DNA binding [Amigo]  DNA binding
GO	RNA polymerase II transcription factor activity [Amigo]  RNA polymerase II transcription factor activity
GO	nucleus [Amigo]  nucleus
GO	transcription [Amigo]  transcription
GO	regulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GO	transcription from RNA polymerase II promoter [Amigo]  transcription from RNA polymerase II promoter
PubGene	MLLT1
TreeFam	MLLT1
CTD	4298 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	MLLT1 Related clones (RZPD - Berlin)
	PubMed
PubMed	11 Pubmed reference(s) in Entrez

Bibliography

Identification of MLL and chimeric MLL gene products involved in 11q23 translocation and possible mechanisms of leukemogenesis by MLL truncation.

Joh T, Kagami Y, Yamamoto K, Segawa T, Takizawa J, Takahashi T, Ueda R, Seto M

Oncogene. 1996 ; 13 (9) : 1945-1953.

PMID 8934541

Involvement of a homolog of Drosophila trithorax by 11q23 chromosomal translocations in acute leukemias.

Tkachuk DC, Kohler S, Cleary ML

Cell. 1992 ; 71 (4) : 691-700.

PMID 1423624

Chromosome abnormalities in leukaemia: the 11q23 paradigm.

Young BD, Saha V

Cancer surveys. 1996 ; 28 : 225-245.

PMID 8977038

Molecular basis of 11q23 rearrangements in hematopoietic malignant proliferations.

Bernard OA, Berger R

Genes, chromosomes & cancer. 1995 ; 13 (2) : 75-85.

PMID 7542910

11q23 rearrangements in acute leukemia.

Rubnitz JE, Behm FG, Downing JR

Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1996 ; 10 (1) : 74-82.

PMID 8558942

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	12-1997	Jean-Loup Huret

Citation

This paper should be referenced as such :

Huret JL . MLLT1 (myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1). Atlas Genet Cytogenet Oncol Haematol. December 1997 . URL : http://AtlasGeneticsOncology.org/Genes/ENL.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sun Nov 9 19:40:05 2008