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MLLT6 (myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6)

Identity

Other namesAF17 (ALL1 fused gene from chromosome 17)
HGNC (Hugo) MLLT6
LocusID (NCBI) 4302
Location 17q12
Location_base_pair Starts at 36861873 and ends at 36886056 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Local_order proximal to RARA, also in 17q21; HLF is even more distal in 17q22
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics

DNA/RNA

Transcription 7.5 and 5 kb mRNA; coding sequence: 3.3 kb

Protein

Description 1093 amino acids; N- term - 3 Zn fingers (LAP type) and a leucine zipper - C-term; a leucine zipper is a dimerization motif
Localisation nuclear
Function transcriptional regulation factor
Homology with AF10 and BR140, a gene sitting in 3p25

Implicated in

Entity t(11;17)(q23;q21) /ANLL --> MLL-AF17
Disease ANLL and MDS
Cytogenetics additional anomaly: +8
Hybrid/Mutated Gene 5' MLL - 3' AF17
Abnormal Protein N-term AT hook and DNA methyltransferase from MLL fused to the leucine zipper C-term of AF17
  

External links

Nomenclature
HGNC (Hugo)MLLT6   7138
Cards
AtlasAF17
Entrez_Gene (NCBI)MLLT6  4302  myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6
GeneCards (Weizmann)MLLT6
Ensembl (Hinxton)ENSG00000108292 [Gene_View]  chr17:36861873-36886056 [Contig_View]  MLLT6 [Vega]
AceView (NCBI)MLLT6
Genatlas (Paris)MLLT6
WikiGenes4302
SOURCE (Princeton)NM_005937
Genomic and cartography
GoldenPath (UCSC)MLLT6  -  17q12   chr17:36861873-36886056 +  17q21   [Description]    (hg19-Feb_2009)
EnsemblMLLT6 - 17q21 [CytoView]
Mapping of homologs : NCBIMLLT6 [Mapview]
OMIM600328   
Gene and transcription
Genbank (Entrez)AB209633 AF075118 AK027133 AK057058 AK092893
RefSeq transcript (Entrez)NM_005937
RefSeq genomic (Entrez)AC_000149 NC_000017 NC_018928 NT_010783 NW_001838435 NW_004929407
Consensus coding sequences : CCDS (NCBI)MLLT6
Cluster EST : UnigeneHs.91531 [ NCBI ]
CGAP (NCI)Hs.91531
Alternative Splicing : Fast-db (Paris)GSHG0012443
Alternative Splicing GalleryENSG00000108292
Gene ExpressionMLLT6 [ NCBI-GEO ]     MLLT6 [ SEEK ]   MLLT6 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP55198 (Uniprot)
NextProtP55198  [Medical]
With graphics : InterProP55198
Splice isoforms : SwissVarP55198 (Swissvar)
Domaine pattern : Prosite (Expaxy)ZF_PHD_1 (PS01359)    ZF_PHD_2 (PS50016)   
Domains : Interpro (EBI)Zinc_finger_PHD-type_CS    Znf_FYVE_PHD    Znf_PHD    Znf_PHD-finger    Znf_RING/FYVE/PHD   
Related proteins : CluSTrP55198
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)PHD (SM00249)  
DMDM Disease mutations4302
Blocks (Seattle)P55198
Human Protein AtlasENSG00000108292
Peptide AtlasP55198
HPRD08978
IPIIPI00023466   IPI00744066   IPI00556612   
Protein Interaction databases
DIP (DOE-UCLA)P55198
IntAct (EBI)P55198
FunCoupENSG00000108292
BioGRIDMLLT6
InParanoidP55198
Interologous Interaction database P55198
IntegromeDBMLLT6
STRING (EMBL)MLLT6
Ontologies - Pathways
Ontology : AmiGOprotein binding  nucleus  regulation of transcription, DNA-dependent  zinc ion binding  
Ontology : EGO-EBIprotein binding  nucleus  regulation of transcription, DNA-dependent  zinc ion binding  
REACTOMEMLLT6
Protein Interaction DatabaseMLLT6
Wikipedia pathwaysMLLT6
Gene fusion - rearrangments
Rearrangement : TICdbKMT2A [11q23.3]  -  MLLT6 [17q12]
Rearrangement : TICdbMLLT6 [17q12]  -  KMT2A [11q23.3]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)MLLT6
SNP (GeneSNP Utah)MLLT6
SNP : HGBaseMLLT6
Genetic variants : HAPMAPMLLT6
1000_GenomesMLLT6 
ICGC programENSG00000108292 
Cancer Gene: CensusMLLT6 
Somatic Mutations in Cancer : COSMICMLLT6 
CONAN: Copy Number AnalysisMLLT6 
Mutations and Diseases : HGMDMLLT6
OMIM600328   
GENETestsMLLT6
Disease Genetic AssociationMLLT6
Huge Navigator MLLT6 [HugePedia]  MLLT6 [HugeCancerGEM]
Genomic VariantsMLLT6  MLLT6 [DGVbeta]
Exome VariantMLLT6
dbVarMLLT6
ClinVarMLLT6
snp3D : Map Gene to Disease4302
General knowledge
Homologs : HomoloGeneMLLT6
Homology/Alignments : Family Browser (UCSC)MLLT6
Phylogenetic Trees/Animal Genes : TreeFamMLLT6
Chemical/Protein Interactions : CTD4302
Chemical/Pharm GKB GenePA30854
Clinical trialMLLT6
Cancer Resource (Charite)ENSG00000108292
Other databases
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
CoreMineMLLT6
iHOPMLLT6

Bibliography

Leucine-zipper dimerization motif encoded by the AF17 gene fused to ALL-1 (MLL) in acute leukemia.
Prasad R, Leshkowitz D, Gu Y, Alder H, Nakamura T, Saito H, Huebner K, Berger R, Croce CM, Canaani E
Proceedings of the National Academy of Sciences of the United States of America. 1994 ; 91 (17) : 8107-8111.
PMID 8058765
 
Chromosome abnormalities in leukaemia: the 11q23 paradigm.
Young BD, Saha V
Cancer surveys. 1996 ; 28 : 225-245.
PMID 8977038
 
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 . MLLT6 (myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6). Atlas Genet Cytogenet Oncol Haematol. December 1997 .
URL : http://AtlasGeneticsOncology.org/Genes/AF17.html

The various updated versions of this paper are referenced and archived by INIST as such :
http://documents.irevues.inist.fr/bitstream/handle/2042/32047/12-1997-AF17.pdf   [ Bibliographic record ]

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indexed on : Fri Apr 18 17:20:15 CEST 2014

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