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

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

Written	1997-12	Jean-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_names	myeloid/lymphoid or mixed-lineage leukemia
Alias_symbol (synonym)	AF-9
	AF9
	YEATS3
Other alias	LTG9
	AF9 (ALL1 fused gene from chromosome 9)
HGNC (Hugo)	MLLT3
LocusID (NCBI)	4300
Atlas_Id	5
Location	9p21.3 [Link to chromosome band 9p21]
Location_base_pair	Starts at 20341665 and ends at 20622543 bp from pter ( according to hg19-Feb_2009) [Mapping MLLT3.png]


	AF9 (9p22) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.

Fusion genes
(updated 2017)

Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

KMT2A (11q23.3) / MLLT3 (9p21.3)	KMT2B (19q13.12) / MLLT3 (9p21.3)	MLLT3 (9p21.3) / CISD3 (17q12)
MLLT3 (9p21.3) / IZUMO3 (9p21.3)	MLLT3 (9p21.3) / KMT2A (11q23.3)	MLLT3 (9p21.3) / SLC28A3 (9q21.32)
PAX5 (9p13.2) / MLLT3 (9p21.3)	SCFD1 (14q12) / MLLT3 (9p21.3)

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

Note

Entity	t(9;11) (p22;q23)/AML -->KMT2A -MLLT3
Disease	M5/M4 de novo and therapy related AML
Prognosis	the prognosis may not be as poor as in other 11q23 leukaemias in de novo cases; very poor prognosis in secondary AML 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)

Bibliography

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

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

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

AF9 (ALL1 fused gene from chromosome 9)

Atlas Genet Cytogenet Oncol Haematol. 1997;1(2):58-58.

Free journal version : [ pdf ] [ DOI ]

On line version : http://AtlasGeneticsOncology.org/Genes/AF9ID5.html

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 3 ]

11q23 rearrangements (KMT2A) in therapy related leukaemias
t(9;11)(p21;q23) KMT2A/MLLT3
t(9;9)(p13;p21) PAX5/MLLT3

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]

MLLT3/IZUMO3 (9p21)
t(9;9)(p21;q21) MLLT3/SLC28A3
t(9;17)(p21;q12) MLLT3/CISD3

External links

	Nomenclature
HGNC (Hugo)	MLLT3 7136
	Cards
Atlas	AF9ID5
Entrez_Gene (NCBI)	MLLT3 4300 MLLT3, super elongation complex subunit
Aliases	AF9; YEATS3
GeneCards (Weizmann)	MLLT3
Ensembl hg19 (Hinxton)	ENSG00000171843 [Gene_View]
Ensembl hg38 (Hinxton)	ENSG00000171843 [Gene_View] ENSG00000171843 [Sequence] chr9:20341665-20622543 [Contig_View] MLLT3 [Vega]
ICGC DataPortal	ENSG00000171843
TCGA cBioPortal	MLLT3
AceView (NCBI)	MLLT3
Genatlas (Paris)	MLLT3
WikiGenes	4300
SOURCE (Princeton)	MLLT3
Genetics Home Reference (NIH)	MLLT3
	Genomic and cartography
GoldenPath hg38 (UCSC)	MLLT3 - chr9:20341665-20622543 - 9p21.3 [Description] (hg38-Dec_2013)
GoldenPath hg19 (UCSC)	MLLT3 - 9p21.3 [Description] (hg19-Feb_2009)
GoldenPath	MLLT3 - 9p21.3 [CytoView hg19] MLLT3 - 9p21.3 [CytoView hg38]
ImmunoBase	ENSG00000171843
Mapping of homologs : NCBI	MLLT3 [Mapview hg19] MLLT3 [Mapview hg38]
OMIM	159558
	Gene and transcription
Genbank (Entrez)	AK128222 AK225957 AK297587 AK301474 AK312914
RefSeq transcript (Entrez)	NM_001286691 NM_004529
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)	MLLT3
Cluster EST : Unigene	Hs.591085 [ NCBI ]
CGAP (NCI)	Hs.591085
Alternative Splicing Gallery	ENSG00000171843
Gene Expression	MLLT3 [ NCBI-GEO ] MLLT3 [ EBI - ARRAY_EXPRESS ] MLLT3 [ SEEK ] MLLT3 [ MEM ]
Gene Expression Viewer (FireBrowse)	MLLT3 [ Firebrowse - Broad ]
SOURCE (Princeton)	Expression in : [Datasets] [Normal Tissue Atlas] [carcinoma Classsification] [NCI60]
Genevestigator	Expression in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	4300
GTEX Portal (Tissue expression)	MLLT3
Human Protein Atlas	ENSG00000171843-MLLT3 [pathology] [cell] [tissue]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	P42568 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction]
NextProt	P42568 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	P42568
Splice isoforms : SwissVar	P42568
PhosPhoSitePlus	P42568
Domaine pattern : Prosite (Expaxy)	YEATS (PS51037)
Domains : Interpro (EBI)	YEAST_sf YEATS
Domain families : Pfam (Sanger)	YEATS (PF03366)
Domain families : Pfam (NCBI)	pfam03366
Conserved Domain (NCBI)	MLLT3
DMDM Disease mutations	4300
Blocks (Seattle)	MLLT3
PDB (RSDB)	2LM0 2MV7 2N4Q 2NDF 2NDG 4TMP 5HJB 5HJD
PDB Europe	2LM0 2MV7 2N4Q 2NDF 2NDG 4TMP 5HJB 5HJD
PDB (PDBSum)	2LM0 2MV7 2N4Q 2NDF 2NDG 4TMP 5HJB 5HJD
PDB (IMB)	2LM0 2MV7 2N4Q 2NDF 2NDG 4TMP 5HJB 5HJD
Structural Biology KnowledgeBase	2LM0 2MV7 2N4Q 2NDF 2NDG 4TMP 5HJB 5HJD
SCOP (Structural Classification of Proteins)	2LM0 2MV7 2N4Q 2NDF 2NDG 4TMP 5HJB 5HJD
CATH (Classification of proteins structures)	2LM0 2MV7 2N4Q 2NDF 2NDG 4TMP 5HJB 5HJD
Superfamily	P42568
Human Protein Atlas [tissue]	ENSG00000171843-MLLT3 [tissue]
Peptide Atlas	P42568
HPRD	01163
IPI	IPI01015721 IPI00000033 IPI00644625 IPI00478977
	Protein Interaction databases
DIP (DOE-UCLA)	P42568
IntAct (EBI)	P42568
FunCoup	ENSG00000171843
BioGRID	MLLT3
STRING (EMBL)	MLLT3
ZODIAC	MLLT3
	Ontologies - Pathways
QuickGO	P42568
Ontology : AmiGO	DNA-binding transcription factor activity, RNA polymerase II-specific chromatin binding protein binding nucleus nucleoplasm chromosome regulation of transcription by RNA polymerase II transcription by RNA polymerase II transcription elongation from RNA polymerase II promoter segment specification transcription elongation factor complex anterior/posterior pattern specification histone binding positive regulation of transcription, DNA-templated extracellular exosome lysine-acetylated histone binding negative regulation of canonical Wnt signaling pathway negative regulation of canonical Wnt signaling pathway modification-dependent protein binding positive regulation of Wnt signaling pathway, planar cell polarity pathway
Ontology : EGO-EBI	DNA-binding transcription factor activity, RNA polymerase II-specific chromatin binding protein binding nucleus nucleoplasm chromosome regulation of transcription by RNA polymerase II transcription by RNA polymerase II transcription elongation from RNA polymerase II promoter segment specification transcription elongation factor complex anterior/posterior pattern specification histone binding positive regulation of transcription, DNA-templated extracellular exosome lysine-acetylated histone binding negative regulation of canonical Wnt signaling pathway negative regulation of canonical Wnt signaling pathway modification-dependent protein binding positive regulation of Wnt signaling pathway, planar cell polarity pathway
Pathways : KEGG	Transcriptional misregulation in cancer
REACTOME	P42568 [protein]
REACTOME Pathways	R-HSA-75955 [pathway]
NDEx Network	MLLT3
Atlas of Cancer Signalling Network	MLLT3
Wikipedia pathways	MLLT3
	Orthology - Evolution
OrthoDB	4300
GeneTree (enSembl)	ENSG00000171843
Phylogenetic Trees/Animal Genes : TreeFam	MLLT3
HOGENOM	P42568
Homologs : HomoloGene	MLLT3
Homology/Alignments : Family Browser (UCSC)	MLLT3
	Gene fusions - Rearrangements
Fusion : Mitelman	MLLT3/CISD3 [9p21.3/17q12]
Fusion : Mitelman	MLLT3/IZUMO3 [9p21.3/9p21.3] [t(9;9)(p21;p21)]
Fusion : Mitelman	MLLT3/SLC28A3 [9p21.3/9q21.32] [t(9;9)(p21;q21)]
Fusion : COSMIC	KMT2A [11q23.3] - MLLT3 [9p21.3] [fusion_1856] [fusion_1857] [fusion_1858] [fusion_1861] [fusion_1983] [fusion_1985] [fusion_1986]
	[fusion_1987] [fusion_2081] [fusion_2082] [fusion_2083] [fusion_2084] [fusion_2085] [fusion_2086] [fusion_2087] [fusion_2088] [fusion_2089]

Fusion : COSMIC	MLLT3 [9p21.3] - KMT2A [11q23.3] [fusion_1984]
Fusion Portal	MLLT3 9p21.3 CISD3 17q12 BRCA
Fusion Portal	MLLT3 9p21.3 IZUMO3 9p21.3 GBM
Fusion Portal	MLLT3 9p21.3 SLC28A3 9q21.32 BRCA
Fusion Portal	MLL MLLT3 9p21.3 LAML
Fusion : TICdb	KMT2A [11q23.3] - MLLT3 [9p21.3]
Fusion : FusionGDB	19103 22163 22164 22165 22166 22167 22168 22169 22170 22171 22172 23486 23495 25861 32817
	3831 38760 42644 43585
Fusion : Fusion_Hub	FOCAD--MLLT3 GPI--MLLT3 IZUMO3--MLLT3 KCND2--MLLT3 KLHL9--MLLT3 KMT2A--MLLT3 MLL--MLLT3 MLLT3--AKAP13 MLLT3--BAG1 MLLT3--BNC2 MLLT3--CISD3 MLLT3--CMC1 MLLT3--DST MLLT3--FLJ35282 MLLT3--FOCAD
	MLLT3--FUS MLLT3--HNRNPK MLLT3--IZUMO3 MLLT3--KMT2A MLLT3--MLL MLLT3--PALM2 MLLT3--PAX5 MLLT3--PLIN2 MLLT3--PPP6R1 MLLT3--PSMB1 MLLT3--SLC28A3 MLLT3--SNX30 MLLT3--SYT10 MLLT3--TEK MLLT3--TGFBR1
	MLLT3--TYRP1 MLLT3--UBQLN1 MLLT3--UGCG MLLT3--ZZZ3 NAP1L4--MLLT3 NBEAL1--MLLT3 PALM2--MLLT3 PAX5--MLLT3 PPP6R1--MLLT3 SCFD1--MLLT3 TMPRSS2--MLLT3 UHRF2--MLLT3
Fusion : Quiver	MLLT3
	Polymorphisms : SNP and Copy number variants
NCBI Variation Viewer	MLLT3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	MLLT3
dbVar	MLLT3
ClinVar	MLLT3
1000_Genomes	MLLT3
Exome Variant Server	MLLT3
ExAC (Exome Aggregation Consortium)	ENSG00000171843
GNOMAD Browser	ENSG00000171843
Varsome Browser	MLLT3
Genetic variants : HAPMAP	4300
Genomic Variants (DGV)	MLLT3 [DGVbeta]
DECIPHER	MLLT3 [patients] [syndromes] [variants] [genes]
CONAN: Copy Number Analysis	MLLT3
	Mutations
ICGC Data Portal	MLLT3
TCGA Data Portal	MLLT3
Broad Tumor Portal	MLLT3
OASIS Portal	MLLT3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMIC	MLLT3 [overview] [genome browser] [tissue] [distribution]
Mutations and Diseases : HGMD	MLLT3
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
BioMuta	search MLLT3
DgiDB (Drug Gene Interaction Database)	MLLT3
DoCM (Curated mutations)	MLLT3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)	MLLT3 (select a term)
intoGen	MLLT3
NCG5 (London)	MLLT3
Cancer3D	MLLT3(select the gene name)
Impact of mutations	[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
	Diseases
OMIM	159558
Orphanet	22870
DisGeNET	MLLT3
Medgen	MLLT3
Genetic Testing Registry	MLLT3
NextProt	P42568 [Medical]
TSGene	4300
GENETests	MLLT3
Target Validation	MLLT3
Huge Navigator	MLLT3 [HugePedia]
snp3D : Map Gene to Disease	4300
BioCentury BCIQ	MLLT3
ClinGen	MLLT3
	Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD	4300
Chemical/Pharm GKB Gene	PA30852
Drug Sensitivity	MLLT3
Clinical trial	MLLT3
	Miscellaneous
canSAR (ICR)	MLLT3 (select the gene name)
DataMed Index	MLLT3
	Probes
	Litterature
PubMed	80 Pubmed reference(s) in Entrez
GeneRIFs	Gene References Into Functions (Entrez)
CoreMine	MLLT3
EVEX	MLLT3
GoPubMed	MLLT3
iHOP	MLLT3

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

Search in all EBI NCBI

indexed on : Mon Jul 8 15:04:16 CEST 2019

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