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MLLT3 (myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3)

Identity

Other namesLTG9
AF9 (ALL1 fused gene from chromosome 9)
HGNC (Hugo) MLLT3
LocusID (NCBI) 4300
Location 9p21.3
Location_base_pair Starts at 20344968 and ends at 20622514 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  AF9 (9p22) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.

DNA/RNA

Transcription 5 kb mRNA; coding sequence: 1.7 kb

Protein

Description 568 amino acids; 63 kDa; serine and proline rich in many places; possesses a nuclear targeting sequence
Localisation nuclear
Function transcription activator
Homology with ENL (human)

Implicated in

Entity t(9;11) (p22;q23)/ANLL -->MLL -AF9
Disease M5/M4 de novo and therapy related ANLL
Prognosis the prognosis may not be as poor as in other 11q23 leukaemias in de novo cases; very poor prognosis in secondary ANLL cases
Cytogenetics may be overlooked; often as a sole anomaly
Hybrid/Mutated Gene variable breakpoints on both genes
Abnormal Protein N-term -- AT hook and DNA methyltransferase from MLL fused to the 192 C-term amino acids from AF9 (as breakpoints are variable, this is only an exemple)
  

External links

Nomenclature
HGNC (Hugo)MLLT3   7136
Cards
AtlasAF9
Entrez_Gene (NCBI)MLLT3  4300  myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3
GeneCards (Weizmann)MLLT3
Ensembl (Hinxton)ENSG00000171843 [Gene_View]  chr9:20344968-20622514 [Contig_View]  MLLT3 [Vega]
AceView (NCBI)MLLT3
Genatlas (Paris)MLLT3
WikiGenes4300
SOURCE (Princeton)NM_001286691 NM_004529
Genomic and cartography
GoldenPath (UCSC)MLLT3  -  9p21.3   chr9:20344968-20622514 -  9p22   [Description]    (hg19-Feb_2009)
EnsemblMLLT3 - 9p22 [CytoView]
Mapping of homologs : NCBIMLLT3 [Mapview]
OMIM159558   
Gene and transcription
Genbank (Entrez)AK128222 AK225957 AK297587 AK301474 AK312914
RefSeq transcript (Entrez)NM_001286691 NM_004529
RefSeq genomic (Entrez)AC_000141 NC_000009 NC_018920 NT_008413 NW_001839149 NW_004929342
Consensus coding sequences : CCDS (NCBI)MLLT3
Cluster EST : UnigeneHs.591085 [ NCBI ]
CGAP (NCI)Hs.591085
Alternative Splicing : Fast-db (Paris)GSHG0030702
Alternative Splicing GalleryENSG00000171843
Gene ExpressionMLLT3 [ NCBI-GEO ]     MLLT3 [ SEEK ]   MLLT3 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP42568 (Uniprot)
NextProtP42568  [Medical]
With graphics : InterProP42568
Splice isoforms : SwissVarP42568 (Swissvar)
Domaine pattern : Prosite (Expaxy)YEATS (PS51037)   
Domains : Interpro (EBI)YEATS   
Related proteins : CluSTrP42568
Domain families : Pfam (Sanger)YEATS (PF03366)   
Domain families : Pfam (NCBI)pfam03366   
DMDM Disease mutations4300
Blocks (Seattle)P42568
PDB (SRS)2LM0   
PDB (PDBSum)2LM0   
PDB (IMB)2LM0   
PDB (RSDB)2LM0   
Human Protein AtlasENSG00000171843
Peptide AtlasP42568
HPRD01163
IPIIPI01015721   IPI00000033   IPI00644625   IPI00478977   
Protein Interaction databases
DIP (DOE-UCLA)P42568
IntAct (EBI)P42568
FunCoupENSG00000171843
BioGRIDMLLT3
InParanoidP42568
Interologous Interaction database P42568
IntegromeDBMLLT3
STRING (EMBL)MLLT3
Ontologies - Pathways
Ontology : AmiGOprotein binding  nucleus  transcription, DNA-templated  regulation of transcription, DNA-dependent  segment specification  anterior/posterior pattern specification  negative regulation of canonical Wnt receptor signaling pathway  negative regulation of canonical Wnt receptor signaling pathway  positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway  
Ontology : EGO-EBIprotein binding  nucleus  transcription, DNA-templated  regulation of transcription, DNA-dependent  segment specification  anterior/posterior pattern specification  negative regulation of canonical Wnt receptor signaling pathway  negative regulation of canonical Wnt receptor signaling pathway  positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway  
Pathways : KEGGTranscriptional misregulation in cancer   
REACTOMEMLLT3
Protein Interaction DatabaseMLLT3
Wikipedia pathwaysMLLT3
Gene fusion - rearrangments
Rearrangement : TICdbKMT2A [11q23.3]  -  MLLT3 [9p21.3]
Rearrangement : TICdbMLLT3 [9p21.3]  -  KMT2A [11q23.3]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)MLLT3
SNP (GeneSNP Utah)MLLT3
SNP : HGBaseMLLT3
Genetic variants : HAPMAPMLLT3
1000_GenomesMLLT3 
ICGC programENSG00000171843 
Cancer Gene: CensusMLLT3 
Somatic Mutations in Cancer : COSMICMLLT3 
CONAN: Copy Number AnalysisMLLT3 
Mutations and Diseases : HGMDMLLT3
OMIM159558   
GENETestsMLLT3
Disease Genetic AssociationMLLT3
Huge Navigator MLLT3 [HugePedia]  MLLT3 [HugeCancerGEM]
Genomic VariantsMLLT3  MLLT3 [DGVbeta]
Exome VariantMLLT3
dbVarMLLT3
ClinVarMLLT3
snp3D : Map Gene to Disease4300
General knowledge
Homologs : HomoloGeneMLLT3
Homology/Alignments : Family Browser (UCSC)MLLT3
Phylogenetic Trees/Animal Genes : TreeFamMLLT3
Chemical/Protein Interactions : CTD4300
Chemical/Pharm GKB GenePA30852
Drug Sensitivity MLLT3
Clinical trialMLLT3
Cancer Resource (Charite)ENSG00000171843
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Litterature
PubMed51 Pubmed reference(s) in Entrez
CoreMineMLLT3
iHOPMLLT3

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
 
Chromosome abnormalities in leukaemia: the 11q23 paradigm.
Young BD, Saha V
Cancer surveys. 1996 ; 28 : 225-245.
PMID 8977038
 
Implication of prior treatment with drug combinations including inhibitors of topoisomerase II in therapy-related monocytic leukemia with a 9;11 translocation.
Albain KS, Le Beau MM, Ullirsch R, Schumacher H
Genes, chromosomes & cancer. 1990 ; 2 (1) : 53-58.
PMID 2177642
 
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

Search in all EBI   NCBI

Contributor(s)

Written12-1997Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL . MLLT3 (myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3). Atlas Genet Cytogenet Oncol Haematol. December 1997 .
URL : http://AtlasGeneticsOncology.org/Genes/AF9.html

The various updated versions of this paper are referenced and archived by INIST as such :
http://documents.irevues.inist.fr/bitstream/handle/2042/32050/12-1997-AF9.pdf   [ Bibliographic record ]

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indexed on : Fri Apr 18 17:28:35 CEST 2014

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