AF9 (ALL1 fused gene from chromosome 9)

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

Identity

Other names	LTG9
	MLLT3 (myeloid/lymphoid leukemia translocated to 3)
HGNC	MLLT3
Location	9p22
	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	MLLT3   7136
Entrez_Gene	MLLT3  4300  myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3
	Cards
Atlas	AF9
GeneCards	MLLT3
Ensembl	MLLT3 [Search_View]   ENSG00000171843 [Gene_View]
Genatlas	MLLT3
GeneLynx	MLLT3
eGenome	MLLT3
euGene	4300
	Genomic and cartography
GoldenPath	MLLT3  -  9p22   chr9:20334968-20612514 -  9p22   [Description]    (hg18-Mar_2006)
Ensembl	MLLT3 - 9p22 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	MLLT3
	Gene and transcription
Genbank	AK225957 [ ENTREZ ]
Genbank	AK312914 [ ENTREZ ]
Genbank	BC030550 [ ENTREZ ]
Genbank	BC036089 [ ENTREZ ]
Genbank	BX649194 [ ENTREZ ]
RefSeq	NM_004529 [ SRS ]    NM_004529 [ ENTREZ ]
RefSeq	AC_000052 [ SRS ]    AC_000052 [ ENTREZ ]
RefSeq	AC_000141 [ SRS ]    AC_000141 [ ENTREZ ]
RefSeq	NC_000009 [ SRS ]    NC_000009 [ ENTREZ ]
RefSeq	NT_008413 [ SRS ]    NT_008413 [ ENTREZ ]
RefSeq	NW_001839149 [ SRS ]    NW_001839149 [ ENTREZ ]
RefSeq	NW_924062 [ SRS ]    NW_924062 [ ENTREZ ]
AceView	MLLT3 AceView - NCBI
Unigene	Hs.591085 [ SRS ]    Hs.591085 [ NCBI ]     HS591085 [ spliceNest ]
Fast-db	3296 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	P42568 [ SRS]    P42568 [ EXPASY ]     P42568 [ INTERPRO ]     P42568 [ UNIPROT ]
Prosite	PS51037 YEATS [ SRS ]    PS51037 YEATS [ Expasy ]
Interpro	IPR005033 YEATS [ SRS ]    IPR005033 YEATS [ EBI ]
CluSTr	P42568
Pfam	PF03366 YEATS [ SRS ]    PF03366 YEATS [ Sanger ]    pfam03366 [ NCBI-CDD ]
Blocks	P42568
HPRD	01163
	Protein Interaction databases
DIP	P42568
IntAct	P42568
	Polymorphism : SNP, mutations, diseases
OMIM	159558    [ map ]
GENECLINICS	159558
SNP	MLLT3 [dbSNP-NCBI]
SNP	NM_004529 [SNP-NCI]
SNP	MLLT3 [GeneSNPs - Utah]  MLLT3] [HGBASE - SRS]
HAPMAP	MLLT3 [HAPMAP]
COSMIC	MLLT3 [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	MLLT3 [Translocation breakpoints In Cancer]
HGMD	MLLT3
	General knowledge
Family Browser	MLLT3 [UCSC Family Browser]
SOURCE	NM_004529
SMD	Hs.591085
SAGE	Hs.591085
GO	nucleus [Amigo]  nucleus
GO	transcription [Amigo]  transcription
GO	regulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
PubGene	MLLT3
TreeFam	MLLT3
CTD	4300 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	Cancer Cytogenetics (Bari)
Probe	MLLT3 Related clones (RZPD - Berlin)
	PubMed
PubMed	17 Pubmed reference(s) in LocusLink

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 articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	12-1997	Jean-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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Aug 11 21:11:53 2008