Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

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)

Identity

Alias_namesmyeloid/lymphoid or mixed-lineage leukemia
Alias_symbol (synonym)ENL
LTG19
YEATS1
Other aliasENL (eleven nineteen leukemia)
MLLT1 (myeloid/lymphoid leukemia translocated to, 1)
HGNC (Hugo) MLLT1
LocusID (NCBI) 4298
Atlas_Id 9
Location 19p13.3  [Link to chromosome band 19p13]
Location_base_pair Starts at 6210392 and ends at 6279959 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 2016)
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)

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

Note
  
Entity t(11.19)(q23;p13.3) /acute leukaemias --> MLL - ENL
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
  

Bibliography

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
 

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. 1997;1(2):66-66.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/ENLID9.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 9 ]
  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
Infant leukaemias::Congenital leukaemias::Neonatal leukaemias
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

Nomenclature
HGNC (Hugo)MLLT1   7134
Cards
AtlasENLID9
Entrez_Gene (NCBI)MLLT1  4298  myeloid/lymphoid or mixed-lineage leukemia; translocated to, 1
AliasesENL; LTG19; YEATS1
GeneCards (Weizmann)MLLT1
Ensembl hg19 (Hinxton)ENSG00000130382 [Gene_View]  chr19:6210392-6279959 [Contig_View]  MLLT1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000130382 [Gene_View]  chr19:6210392-6279959 [Contig_View]  MLLT1 [Vega]
ICGC DataPortalENSG00000130382
TCGA cBioPortalMLLT1
AceView (NCBI)MLLT1
Genatlas (Paris)MLLT1
WikiGenes4298
SOURCE (Princeton)MLLT1
Genetics Home Reference (NIH)MLLT1
Genomic and cartography
GoldenPath hg19 (UCSC)MLLT1  -     chr19:6210392-6279959 -  19p13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MLLT1  -     19p13.3   [Description]    (hg38-Dec_2013)
EnsemblMLLT1 - 19p13.3 [CytoView hg19]  MLLT1 - 19p13.3 [CytoView hg38]
Mapping of homologs : NCBIMLLT1 [Mapview hg19]  MLLT1 [Mapview hg38]
OMIM159556   
Gene and transcription
Genbank (Entrez)AF373587 AL365410 BC047008 BC063667 BC084564
RefSeq transcript (Entrez)NM_005934
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011295 NW_004929412
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
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
PhosPhoSitePlusQ03111
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
SuperfamilyQ03111
Human Protein AtlasENSG00000130382
Peptide AtlasQ03111
HPRD15933
IPIIPI00100630   IPI00747295   
Protein Interaction databases
DIP (DOE-UCLA)Q03111
IntAct (EBI)Q03111
FunCoupENSG00000130382
BioGRIDMLLT1
STRING (EMBL)MLLT1
ZODIACMLLT1
Ontologies - Pathways
QuickGOQ03111
Ontology : AmiGODNA binding  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  negative regulation of protein kinase activity  transcription elongation factor complex  
Ontology : EGO-EBIDNA binding  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  negative regulation of protein kinase activity  transcription elongation factor complex  
Pathways : KEGGTranscriptional misregulation in cancer   
REACTOMEQ03111 [protein]
REACTOME Pathways112382 [pathway]   112387 [pathway]   674695 [pathway]   75955 [pathway]   
NDEx NetworkMLLT1
Atlas of Cancer Signalling NetworkMLLT1
Wikipedia pathwaysMLLT1
Orthology - Evolution
OrthoDB4298
GeneTree (enSembl)ENSG00000130382
Phylogenetic Trees/Animal Genes : TreeFamMLLT1
HOVERGENQ03111
HOGENOMQ03111
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
dbVarMLLT1
ClinVarMLLT1
1000_GenomesMLLT1 
Exome Variant ServerMLLT1
ExAC (Exome Aggregation Consortium)MLLT1 (select the gene name)
Genetic variants : HAPMAP4298
Genomic Variants (DGV)MLLT1 [DGVbeta]
DECIPHER (Syndromes)19:6210392-6279959  ENSG00000130382
CONAN: Copy Number AnalysisMLLT1 
Mutations
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)
intoGenMLLT1
NCG5 (London)MLLT1
Cancer3DMLLT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM159556   
Orphanet
MedgenMLLT1
Genetic Testing Registry MLLT1
NextProtQ03111 [Medical]
TSGene4298
GENETestsMLLT1
Huge Navigator MLLT1 [HugePedia]
snp3D : Map Gene to Disease4298
BioCentury BCIQMLLT1
ClinGenMLLT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4298
Chemical/Pharm GKB GenePA30848
Clinical trialMLLT1
Miscellaneous
canSAR (ICR)MLLT1 (select the gene name)
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMLLT1
EVEXMLLT1
GoPubMedMLLT1
iHOPMLLT1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Apr 12 11:31:14 CEST 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.