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AF9 (ALL1 fused gene from chromosome 9)

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

Identity

Other namesLTG9
MLLT3 (myeloid/lymphoid leukemia translocated to 3)
HGNC (Hugo) MLLT3
Location 9p22
Location_base_pair Starts at 20334968 and ends at 20612514 bp from pter ( according to hg18-Mar_2006)  [Mapping]
 
  AF9 (9p22) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it

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
Entrez_Gene (NCBI)MLLT3  4300  myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3
Cards
AtlasAF9
GeneCards (Weizmann)MLLT3
Ensembl (Hinxton)ENSG00000171843 [Gene_View]  MLLT3 [Vega]
AceView (NCBI)MLLT3
Genatlas (Paris)MLLT3
euGene (Indiana)4300
SOURCE (Stanford)NM_004529
Genomic and cartography
GoldenPath (UCSC)MLLT3  -  9p22   chr9:20334968-20612514 -  9p22   [Description]    (hg18-Mar_2006)
EnsemblMLLT3 - 9p22 [CytoView]
Mapping of homologs : NCBIMLLT3 [Mapview]
OMIM159558   
Gene and transcription
Gene : Genbank (Entrez)AK225957 AK297587 AK301474 AK312914 BC030550
Reference sequence (RefSeq transcript) :SRSNM_004529
Reference transcript : EntrezNM_004529
RefSeq genomic : SRSAC_000052 AC_000141 NC_000009 NT_008413 NW_001839149 NW_924062
RefSeq genomic : EntrezAC_000052 AC_000141 NC_000009 NT_008413 NW_001839149 NW_924062
Consensus coding sequences : CCDS NCBIMLLT3
Cluster EST : UnigeneHs.591085 [ SRS ] Hs.591085 [ NCBI ]
Alternative Splicing : Fast-db (Paris)3296
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtP42568 (SRS) P42568 (Expasy) P42568 (Uniprot)
With graphics : InterProP42568
Splice isoforms : VarSplice FASTAP42568(VarSplice FASTA)
Domaine pattern : Prosite (SRS)YEATS (PS51037)   
Domain pattern : Prosite (Expaxy)YEATS (PS51037)   
Domains : Interpro (SRS)YEATS   
Domains : Interpro (EBI)YEATS   
Related proteins : CluSTrP42568
Domain families : Pfam SRSYEATS (PF03366)   
Domain families : Pfam SangerYEATS (PF03366)   
Domain families : Pfam NCBIpfam03366   
Blocks (Seattle)P42568
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD01163
Protein Interaction databases
DIP (DOE-UCLA)P42568
IntAct (EBI)P42568
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIMLLT3
SNP : GeneSNP UtahMLLT3
SNP : HGBaseMLLT3
Genetic variants : HAPMAPMLLT3
Somatic Mutations in Cancer : COSMICMLLT3 
Translocation Breakpoints in Cancer : TICdbMLLT3 
Mutations and Diseases : HGMDMLLT3
Hereditary diseases : OMIM159558   
Hereditary diseases : GENETests159558   
Diseases : Genetic AssociationMLLT3
General knowledge
Homologs : HomoloGeneMLLT3
Homology/Alignments : Family Browser UCSCMLLT3
Phylogenetic Trees/Animal Genes : TreeFamMLLT3
Chemical/Protein Interactions : CTD4300
Keywords Ontology : AmiGOnucleus  cytoplasm  transcription  regulation of transcription, DNA-dependent  segment specification  anterior/posterior pattern formation  
Keywords Ontology : EGO-EBInucleus  cytoplasm  transcription  regulation of transcription, DNA-dependent  segment specification  anterior/posterior pattern formation  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Probes : ImagenesMLLT3 Related clones (RZPD - Berlin)
Literature
PubMed18 Pubmed reference(s) in Entrez
PubGeneMLLT3

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

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Contributor(s)

Written12-1997Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL . AF9 (ALL1 fused gene from chromosome 9); 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

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indexed on : Sat Jun 27 16:39:18 CEST 2009

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