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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)

Identity

Alias (NCBI)ENL (eleven nineteen leukemia)
LTG19
MLLT1 (myeloid/lymphoid leukemia translocated to, 1)
HGNC (Hugo) MLLT1
HGNC Alias symbENL
LTG19
YEATS1
HGNC Previous namemyeloid/lymphoid or mixed-lineage 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 6279975 bp from pter ( according to GRCh38/hg38-Dec_2013)  [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)

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 /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
  

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 ]


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 14 ]
  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)
Pediatric T-Cell Acute Lymphoblastic Leukemia
der(2)t(1;2)(q12-21;q37)
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)
Therapy-Related Hematopoietic Neoplasia


External links

 

Nomenclature
HGNC (Hugo)MLLT1   7134
Cards
AtlasENLID9
Entrez_Gene (NCBI)MLLT1    MLLT1 super elongation complex subunit
AliasesENL; LTG19; YEATS1
GeneCards (Weizmann)MLLT1
Ensembl hg19 (Hinxton)ENSG00000130382 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130382 [Gene_View]  ENSG00000130382 [Sequence]  chr19:6210381-6279975 [Contig_View]  MLLT1 [Vega]
ICGC DataPortalENSG00000130382
TCGA cBioPortalMLLT1
AceView (NCBI)MLLT1
Genatlas (Paris)MLLT1
SOURCE (Princeton)MLLT1
Genetics Home Reference (NIH)MLLT1
Genomic and cartography
GoldenPath hg38 (UCSC)MLLT1  -     chr19:6210381-6279975 -  19p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MLLT1  -     19p13.3   [Description]    (hg19-Feb_2009)
GoldenPathMLLT1 - 19p13.3 [CytoView hg19]  MLLT1 - 19p13.3 [CytoView hg38]
ImmunoBaseENSG00000130382
Genome Data Viewer NCBIMLLT1 [Mapview hg19]  
OMIM159556   
Gene and transcription
Genbank (Entrez)AF373587 AL365410 BC047008 BC063667 BC084564
RefSeq transcript (Entrez)NM_005934
Consensus coding sequences : CCDS (NCBI)MLLT1
Gene ExpressionMLLT1 [ NCBI-GEO ]   MLLT1 [ EBI - ARRAY_EXPRESS ]   MLLT1 [ SEEK ]   MLLT1 [ MEM ]
Gene Expression Viewer (FireBrowse)MLLT1 [ Firebrowse - Broad ]
GenevisibleExpression of MLLT1 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
PhosPhoSitePlusQ03111
Domaine pattern : Prosite (Expaxy)YEATS (PS51037)   
Domains : Interpro (EBI)AF-9_AHD    YEAST_sf    YEATS   
Domain families : Pfam (Sanger)AHD (PF17793)    YEATS (PF03366)   
Domain families : Pfam (NCBI)pfam17793    pfam03366   
Conserved Domain (NCBI)MLLT1
PDB (RSDB)5J9S    6HPW    6HPX    6HPY    6HPZ    6HQ0    6HT0    6HT1    6T1I    6T1J    6T1L    6T1M    6T1N    6T1O   
PDB Europe5J9S    6HPW    6HPX    6HPY    6HPZ    6HQ0    6HT0    6HT1    6T1I    6T1J    6T1L    6T1M    6T1N    6T1O   
PDB (PDBSum)5J9S    6HPW    6HPX    6HPY    6HPZ    6HQ0    6HT0    6HT1    6T1I    6T1J    6T1L    6T1M    6T1N    6T1O   
PDB (IMB)5J9S    6HPW    6HPX    6HPY    6HPZ    6HQ0    6HT0    6HT1    6T1I    6T1J    6T1L    6T1M    6T1N    6T1O   
Structural Biology KnowledgeBase5J9S    6HPW    6HPX    6HPY    6HPZ    6HQ0    6HT0    6HT1    6T1I    6T1J    6T1L    6T1M    6T1N    6T1O   
SCOP (Structural Classification of Proteins)5J9S    6HPW    6HPX    6HPY    6HPZ    6HQ0    6HT0    6HT1    6T1I    6T1J    6T1L    6T1M    6T1N    6T1O   
CATH (Classification of proteins structures)5J9S    6HPW    6HPX    6HPY    6HPZ    6HQ0    6HT0    6HT1    6T1I    6T1J    6T1L    6T1M    6T1N    6T1O   
SuperfamilyQ03111
AlphaFold pdb e-kbQ03111   
Human Protein Atlas [tissue]ENSG00000130382-MLLT1 [tissue]
HPRD15933
Protein Interaction databases
DIP (DOE-UCLA)Q03111
IntAct (EBI)Q03111
BioGRIDMLLT1
STRING (EMBL)MLLT1
ZODIACMLLT1
Ontologies - Pathways
QuickGOQ03111
Ontology : AmiGOfibrillar center  protein binding  nucleoplasm  nucleoplasm  cytosol  regulation of transcription, DNA-templated  transcription by RNA polymerase II  transcription elongation from RNA polymerase II promoter  negative regulation of protein kinase activity  transcription elongation factor complex  
Ontology : EGO-EBIfibrillar center  protein binding  nucleoplasm  nucleoplasm  cytosol  regulation of transcription, DNA-templated  transcription by RNA polymerase II  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
OrthoDB4298
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]  
Fusion : MitelmanMLLT1::ZNF439 [19p13.3/19p13.2]  
Fusion : MitelmanRANBP3::MLLT1 [19p13.3/19p13.3]  
Fusion : COSMICMLLT1 [19p13.3]  -  KMT2A [11q23.3]  [fusion_2079]  [fusion_2080]  
Fusion : QuiverMLLT1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMLLT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MLLT1
dbVarMLLT1
ClinVarMLLT1
MonarchMLLT1
1000_GenomesMLLT1 
Exome Variant ServerMLLT1
GNOMAD BrowserENSG00000130382
Varsome BrowserMLLT1
ACMGMLLT1 variants
VarityQ03111
Genomic Variants (DGV)MLLT1 [DGVbeta]
DECIPHERMLLT1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DMLLT1
Mutations and Diseases : HGMDMLLT1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaMLLT1
DgiDB (Drug Gene Interaction Database)MLLT1
DoCM (Curated mutations)MLLT1
CIViC (Clinical Interpretations of Variants in Cancer)MLLT1
OncoKBMLLT1
NCG (London)MLLT1
Cancer3DMLLT1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM159556   
Orphanet
DisGeNETMLLT1
MedgenMLLT1
Genetic Testing Registry MLLT1
NextProtQ03111 [Medical]
GENETestsMLLT1
Target ValidationMLLT1
Huge Navigator MLLT1 [HugePedia]
ClinGenMLLT1
Clinical trials, drugs, therapy
MyCancerGenomeMLLT1
Protein Interactions : CTDMLLT1
Pharm GKB GenePA30848
PharosQ03111
Clinical trialMLLT1
Miscellaneous
canSAR (ICR)MLLT1
HarmonizomeMLLT1
DataMed IndexMLLT1
Probes
Litterature
PubMed70 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMLLT1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Oct 8 21:17:06 CEST 2021

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

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.