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

Written1997-12Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


Alias_namesmyeloid/lymphoid or mixed-lineage leukemia
Alias_symbol (synonym)ENL
Other aliasENL (eleven nineteen leukemia)
MLLT1 (myeloid/lymphoid leukemia translocated to, 1)
LocusID (NCBI) 4298
Atlas_Id 9
Location 19p13.3  [Link to chromosome band 19p13]
Location_base_pair Starts at 6210381 and ends at 6279948 bp from pter ( according to hg19-Feb_2009)  [Mapping MLLT1.png]
Local_order not far from E2A, also in 19p13.3; LYL1 is in 19p13.2-p13.1 and ELL in 19p13.1
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ADAMTS10 (19p13.2) / MLLT1 (19p13.3)KMT2A (11q23.3) / MLLT1 (19p13.3)KMT2B (19q13.12) / MLLT1 (19p13.3)
LRRC7 (1p31.1) / MLLT1 (19p13.3)MLLT1 (19p13.3) / KMT2A (11q23.3)MLLT1 (19p13.3) / MLLT1 (19p13.3)
MLLT1 (19p13.3) / SH3GL1 (19p13.3)MLLT1 (19p13.3) / TPRN (9q34.3)MLLT1 (19p13.3) / ZNF439 (19p13.2)
RANBP3 (19p13.3) / MLLT1 (19p13.3)SLC45A3 (1q32.1) / MLLT1 (19p13.3)


Transcription 4.7 kb mRNA; coding sequence: 1.7 kb


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 --> KMT2A - MLLT1
Disease ALL (CD19+), biphenotypic AL, AML (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


Molecular basis of 11q23 rearrangements in hematopoietic malignant proliferations.
Bernard OA, Berger R
Genes, chromosomes & cancer. 1995 ; 13 (2) : 75-85.
PMID 7542910
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
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
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


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. 1997;1(2):66-66.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 12 ]
  11q23 rearrangements (KMT2A) in childhood acute lymphoblastic leukemia
11q23 rearrangements (KMT2A) in de novo childhood acute myeloid leukemia
11q23 rearrangements (KMT2A) in leukaemia
11q23 rearrangements (KMT2A) in therapy related leukaemias
Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN)
Infant leukaemias::Congenital leukaemias::Neonatal leukaemias
t(4;11)(q21;q23) KMT2A/AFF1
t(6;11)(q27;q23) KMT2A/AFDN
t(11;16)(q23;p13.3) KMT2A/CREBBP
t(11;19)(q23;p13.3) KMT2A/MLLT1
t(11;19)(q23;p13) KMT2A/SH3GL1
T-lineage acute lymphoblastic leukemia (T-ALL)

External links

HGNC (Hugo)MLLT1   7134
Entrez_Gene (NCBI)MLLT1  4298  MLLT1, super elongation complex subunit
AliasesENL; LTG19; YEATS1
GeneCards (Weizmann)MLLT1
Ensembl hg19 (Hinxton)ENSG00000130382 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130382 [Gene_View]  chr19:6210381-6279948 [Contig_View]  MLLT1 [Vega]
ICGC DataPortalENSG00000130382
TCGA cBioPortalMLLT1
Genatlas (Paris)MLLT1
SOURCE (Princeton)MLLT1
Genetics Home Reference (NIH)MLLT1
Genomic and cartography
GoldenPath hg38 (UCSC)MLLT1  -     chr19:6210381-6279948 -  19p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MLLT1  -     19p13.3   [Description]    (hg19-Feb_2009)
EnsemblMLLT1 - 19p13.3 [CytoView hg19]  MLLT1 - 19p13.3 [CytoView hg38]
Mapping of homologs : NCBIMLLT1 [Mapview hg19]  MLLT1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF373587 AL365410 BC047008 BC063667 BC084564
RefSeq transcript (Entrez)NM_005934
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MLLT1
Cluster EST : UnigeneHs.10095 [ NCBI ]
CGAP (NCI)Hs.10095
Alternative Splicing GalleryENSG00000130382
Gene ExpressionMLLT1 [ NCBI-GEO ]   MLLT1 [ EBI - ARRAY_EXPRESS ]   MLLT1 [ SEEK ]   MLLT1 [ MEM ]
Gene Expression Viewer (FireBrowse)MLLT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4298
GTEX Portal (Tissue expression)MLLT1
Human Protein AtlasENSG00000130382-MLLT1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ03111   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ03111  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ03111
Splice isoforms : SwissVarQ03111
Domaine pattern : Prosite (Expaxy)YEATS (PS51037)   
Domains : Interpro (EBI)YEATS   
Domain families : Pfam (Sanger)YEATS (PF03366)   
Domain families : Pfam (NCBI)pfam03366   
Conserved Domain (NCBI)MLLT1
DMDM Disease mutations4298
Blocks (Seattle)MLLT1
Human Protein Atlas [tissue]ENSG00000130382-MLLT1 [tissue]
Peptide AtlasQ03111
IPIIPI00100630   IPI00747295   
Protein Interaction databases
IntAct (EBI)Q03111
Ontologies - Pathways
Ontology : AmiGOfibrillar center  DNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytosol  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  negative regulation of protein kinase activity  transcription elongation factor complex  
Ontology : EGO-EBIfibrillar center  DNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytosol  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  negative regulation of protein kinase activity  transcription elongation factor complex  
Pathways : KEGGTranscriptional misregulation in cancer   
REACTOMEQ03111 [protein]
REACTOME PathwaysR-HSA-75955 [pathway]   
NDEx NetworkMLLT1
Atlas of Cancer Signalling NetworkMLLT1
Wikipedia pathwaysMLLT1
Orthology - Evolution
GeneTree (enSembl)ENSG00000130382
Phylogenetic Trees/Animal Genes : TreeFamMLLT1
Homologs : HomoloGeneMLLT1
Homology/Alignments : Family Browser (UCSC)MLLT1
Gene fusions - Rearrangements
Fusion : MitelmanADAMTS10/MLLT1 [19p13.2/19p13.3]  [t(19;19)(p13;p13)]  
Fusion : MitelmanMLLT1/ZNF439 [19p13.3/19p13.2]  [t(19;19)(p13;p13)]  
Fusion : MitelmanRANBP3/MLLT1 [19p13.3/19p13.3]  [t(19;19)(p13;p13)]  
Fusion : COSMICKMT2A [11q23.3]  -  MLLT1 [19p13.3]  [fusion_1786]  [fusion_1787]  [fusion_1803]  [fusion_1804]  [fusion_1805]  [fusion_1822]  [fusion_1823]  
[fusion_1959]  [fusion_1960]  [fusion_1961]  [fusion_1962]  [fusion_2015]  [fusion_2016]  [fusion_2017]  [fusion_2018]  [fusion_2019]  [fusion_2020]  
[fusion_2021]  [fusion_2022]  [fusion_2077]  [fusion_2078]  
Fusion : COSMICMLLT1 [19p13.3]  -  KMT2A [11q23.3]  [fusion_2079]  [fusion_2080]  
Fusion: TCGAADAMTS10 19p13.2 MLLT1 19p13.3 BRCA
Fusion: TCGAMLLT1 19p13.3 ZNF439 19p13.2 SKCM
Fusion: TCGARANBP3 19p13.3 MLLT1 19p13.3 PRAD
Fusion : TICdbKMT2A [11q23.3]  -  MLLT1 [19p13.3]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMLLT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MLLT1
Exome Variant ServerMLLT1
ExAC (Exome Aggregation Consortium)ENSG00000130382
GNOMAD BrowserENSG00000130382
Genetic variants : HAPMAP4298
Genomic Variants (DGV)MLLT1 [DGVbeta]
DECIPHERMLLT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMLLT1 
ICGC Data PortalMLLT1 
TCGA Data PortalMLLT1 
Broad Tumor PortalMLLT1
OASIS PortalMLLT1 [ Somatic mutations - Copy number]
Cancer Gene: CensusMLLT1 
Somatic Mutations in Cancer : COSMICMLLT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMLLT1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MLLT1
DgiDB (Drug Gene Interaction Database)MLLT1
DoCM (Curated mutations)MLLT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MLLT1 (select a term)
NCG5 (London)MLLT1
Cancer3DMLLT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Genetic Testing Registry MLLT1
NextProtQ03111 [Medical]
Target ValidationMLLT1
Huge Navigator MLLT1 [HugePedia]
snp3D : Map Gene to Disease4298
BioCentury BCIQMLLT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4298
Chemical/Pharm GKB GenePA30848
Clinical trialMLLT1
canSAR (ICR)MLLT1 (select the gene name)
PubMed49 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Oct 12 16:21:19 CEST 2017

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