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

Identity

Other namesENL (eleven nineteen leukemia)
LTG19
MLLT1 (myeloid/lymphoid leukemia translocated to, 1)
HGNC (Hugo) MLLT1
Location 19p13.3
Location_base_pair Starts at 6161392 and ends at 6230959 bp from pter ( according to hg18-Mar_2006)  [Mapping]
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 (Hugo)MLLT1   7134
Entrez_Gene (NCBI)MLLT1  4298  myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1
Cards
AtlasENL
GeneCards (Weizmann)MLLT1
Ensembl (Hinxton)ENSG00000130382 [Gene_View]  MLLT1 [Vega]
AceView (NCBI)MLLT1
Genatlas (Paris)MLLT1
euGene (Indiana)4298
SOURCE (Stanford)NM_005934
Genomic and cartography
GoldenPath (UCSC)MLLT1  -  19p13.3   chr19:6161392-6230959 -  19p13.3   [Description]    (hg18-Mar_2006)
EnsemblMLLT1 - 19p13.3 [CytoView]
Mapping of homologs : NCBIMLLT1 [Mapview]
OMIM159556   
Gene and transcription
Gene : Genbank (Entrez)AL365410 BC047008 BC063667 BC084564 BC146318
Reference sequence (RefSeq transcript) :SRSNM_005934
Reference transcript : EntrezNM_005934
RefSeq genomic : SRSAC_000062 AC_000151 NC_000019 NT_011255 NW_001838477 NW_927173
RefSeq genomic : EntrezAC_000062 AC_000151 NC_000019 NT_011255 NW_001838477 NW_927173
Consensus coding sequences : CCDS NCBIMLLT1
Cluster EST : UnigeneHs.10095 [ SRS ] Hs.10095 [ NCBI ]
Alternative Splicing : Fast-db (Paris)3542
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ03111 (SRS) Q03111 (Expasy) Q03111 (Uniprot)
With graphics : InterProQ03111
Splice isoforms : VarSplice FASTAQ03111(VarSplice FASTA)
Domaine pattern : Prosite (SRS)YEATS (PS51037)   
Domain pattern : Prosite (Expaxy)YEATS (PS51037)   
Domains : Interpro (SRS)YEATS   
Domains : Interpro (EBI)YEATS   
Related proteins : CluSTrQ03111
Domain families : Pfam SRSYEATS (PF03366)   
Domain families : Pfam SangerYEATS (PF03366)   
Domain families : Pfam NCBIpfam03366   
Blocks (Seattle)Q03111
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD15933
Protein Interaction databases
DIP (DOE-UCLA)Q03111
IntAct (EBI)Q03111
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIMLLT1
SNP : GeneSNP UtahMLLT1
SNP : HGBaseMLLT1
Genetic variants : HAPMAPMLLT1
Somatic Mutations in Cancer : COSMICMLLT1 
Translocation Breakpoints in Cancer : TICdbMLLT1 
Mutations and Diseases : HGMDMLLT1
Hereditary diseases : OMIM159556   
Hereditary diseases : GENETests159556   
Diseases : Genetic AssociationMLLT1
General knowledge
Homologs : HomoloGeneMLLT1
Homology/Alignments : Family Browser UCSCMLLT1
Phylogenetic Trees/Animal Genes : TreeFamMLLT1
Chemical/Protein Interactions : CTD4298
Keywords Ontology : AmiGODNA binding  RNA polymerase II transcription factor activity  protein binding  nucleus  transcription  regulation of transcription, DNA-dependent  transcription from RNA polymerase II promoter  negative regulation of protein kinase activity  
Keywords Ontology : EGO-EBIDNA binding  RNA polymerase II transcription factor activity  protein binding  nucleus  transcription  regulation of transcription, DNA-dependent  transcription from RNA polymerase II promoter  negative regulation of protein kinase activity  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesMLLT1 Related clones (RZPD - Berlin)
Literature
PubMed11 Pubmed reference(s) in Entrez
PubGeneMLLT1

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 articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written12-1997Jean-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

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indexed on : Sat Jun 27 16:37:42 CEST 2009

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