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MLLT4 (myeloid/lymphoid or mixed-lineage leukemia (trithorax); translocated to, 4)

Identity

Other namesAF6 (ALL1 fused gene from chromosome 6)
MLLT4 (myeloid/lymphoid leukemia translocated to, n 4)
HGNC (Hugo) MLLT4
LocusID (NCBI) 4301
Location 6q27
Location_base_pair Starts at 168227671 and ends at 168365793 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  AF6 (6q27) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it

DNA/RNA

Transcription 8 kb mRNA; coding sequence: 4.8 kb

Protein

Description 1612 amino acids; contains a GLGF motif, which may have a role in membrane/cytoskeleton relations
Expression widely expressed
Localisation cytoplasmic
Function may be involved in molecular transport system; signal transduction
Homology cno (drosophila)

Implicated in

Entity t(6;11)(q27;q23)/ANLL --> MLL/AF6
Disease M4/M5 ANLL mainly
Prognosis poor
Cytogenetics may be overlooked; +8 is a frequent additional chromosome anomaly
Hybrid/Mutated Gene 5' MLL- 3' AF6
Abnormal Protein NH2-term MLL (with the AT hook and DNA binding motifs) and most of AF6
  

External links

Nomenclature
HGNC (Hugo)MLLT4   7137
Entrez_Gene (NCBI)MLLT4  4301  myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4
Cards
AtlasAF6
GeneCards (Weizmann)MLLT4
Ensembl (Hinxton)ENSG00000130396 [Gene_View]  chr6:168227671-168365793 [Contig_View]  MLLT4 [Vega]
AceView (NCBI)MLLT4
Genatlas (Paris)MLLT4
euGene (Indiana)4301
SOURCE (Stanford)NM_001040000 NM_001040001 NM_001207008 NM_005936
Genomic and cartography
GoldenPath (UCSC)MLLT4  -  6q27   chr6:168227671-168365793 +  6q27   [Description]    (hg19-Feb_2009)
EnsemblMLLT4 - 6q27 [CytoView]
Mapping of homologs : NCBIMLLT4 [Mapview]
OMIM159559   
Gene and transcription
Genbank (Entrez)AB209420 AB621809 AF085836 AI271860 AK055689
RefSeq transcript (SRS)NM_001040000 NM_001040001 NM_001207008 NM_005936
RefSeq transcript (Entrez)NM_001040000 NM_001040001 NM_001207008 NM_005936
RefSeq genomic (SRS)AC_000138 NC_000006 NG_029689 NT_025741 NW_001838994
RefSeq genomic (Entrez)AC_000138 NC_000006 NG_029689 NT_025741 NW_001838994
Consensus coding sequences : CCDS (NCBI)MLLT4
Cluster EST : UnigeneHs.728849 [ SRS ] Hs.728849 [ NCBI ]
Alternative Splicing : Fast-db (Paris)17058
Alternative Splicing GalleryENSG00000130396
Gene ExpressionMLLT4 [ NCBI-GEO ]   MLLT4 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP55196 (SRS) P55196 (Uniprot)
With graphics : InterProP55196
Splice isoforms : SwissVarP55196(Swissvar)
Domaine pattern : Prosite (SRS)DILUTE (PS51126)    FHA_DOMAIN (PS50006)    PDZ (PS50106)    RA (PS50200)   
Domaine pattern : Prosite (Expaxy)DILUTE (PS51126)    FHA_DOMAIN (PS50006)    PDZ (PS50106)    RA (PS50200)   
Domains : Interpro (SRS)Dil_domain    Dilute    FHA_dom    PDZ    Ras-assoc    SMAD_FHA_domain   
Domains : Interpro (EBI)Dil_domain    Dilute    FHA_dom    PDZ    Ras-assoc    SMAD_FHA_domain   
Related proteins : CluSTrP55196
Domain families : Pfam (SRS)DIL (PF01843)    FHA (PF00498)    PDZ (PF00595)    RA (PF00788)   
Domain families : Pfam (Sanger)DIL (PF01843)    FHA (PF00498)    PDZ (PF00595)    RA (PF00788)   
Domain families : Pfam (NCBI)pfam01843    pfam00498    pfam00595    pfam00788   
Domain families : Smart (EMBL)FHA (SM00240)  PDZ (SM00228)  RA (SM00314)  
Blocks (Seattle)P55196
PDB (SRS)1T2M    1XZ9    2AIN    2EXG   
PDB (PDBSum)1T2M    1XZ9    2AIN    2EXG   
PDB (IMB)1T2M    1XZ9    2AIN    2EXG   
PDB (RSDB)1T2M    1XZ9    2AIN    2EXG   
Human Protein AtlasENSG00000130396
HPRD01164
IPIIPI00398718   IPI00216505   IPI00023461   IPI00759546   IPI01014668   IPI00953593   IPI00479469   IPI00965424   IPI00640210   IPI00643785   IPI00829971   IPI00966597   IPI00966568   IPI00967991   IPI00966289   IPI00967110   
Protein Interaction databases
DIP (DOE-UCLA)P55196
IntAct (EBI)P55196
FunCoupENSG00000130396
REACTOMEMLLT4
BioGRIDMLLT4
InParanoidP55196
Interologous Interaction database P55196
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)MLLT4
SNP (GeneSNP Utah)MLLT4
SNP : HGBaseMLLT4
Genetic variants : HAPMAPMLLT4
Cancer Gene: CensusMLLT4 
Somatic Mutations in Cancer : COSMICMLLT4 
CONAN: Copy Number AnalysisMLLT4 
Translocation Breakpoints in Cancer : TICdbMLLT4 
Mutations and Diseases : HGMDMLLT4
OMIM159559   
GENETests159559   
Disease Genetic AssociationMLLT4
Huge Navigator MLLT4 [HugePedia]  MLLT4 [HugeCancerGEM]
Genomic VariantsMLLT4
snp3D : Map Gene to Disease4301
General knowledge
Homologs : HomoloGeneMLLT4
Homology/Alignments : Family Browser (UCSC)MLLT4
Phylogenetic Trees/Animal Genes : TreeFamMLLT4
Chemical/Protein Interactions : CTD4301
Chemical/Pharm GKB GenePA30853
Clinical trialMLLT4
Cancer Resource (Charite)ENSG00000130396
Ontology : AmiGOnucleus  nucleolus  cytoplasm  cytosol  plasma membrane  cell-cell junction  adherens junction  cell adhesion  signal transduction  cell-cell signaling  protein C-terminus binding  cell junction  cell junction assembly  adherens junction organization  cell-cell junction organization  
Ontology : EGO-EBInucleus  nucleolus  cytoplasm  cytosol  plasma membrane  cell-cell junction  adherens junction  cell adhesion  signal transduction  cell-cell signaling  protein C-terminus binding  cell junction  cell junction assembly  adherens junction organization  cell-cell junction organization  
Pathways : KEGGAdherens junctionTight junctionLeukocyte transendothelial migration
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Probes : ImagenesMLLT4 Related clones (RZPD - Berlin)
Litterature
PubMed64 Pubmed reference(s) in Entrez
PubGeneMLLT4
iHOPMLLT4

Bibliography

Cloning of the ALL-1 fusion partner, the AF-6 gene, involved in acute myeloid leukemias with the t(6;11) chromosome translocation.
Prasad R, Gu Y, Alder H, Nakamura T, Canaani O, Saito H, Huebner K, Gale RP, Nowell PC, Kuriyama K
Cancer research. 1993 ; 53 (23) : 5624-5628.
PMID 8242616
 
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

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Contributor(s)

Written12-1997Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL . MLLT4 (myeloid/lymphoid or mixed-lineage leukemia (trithorax); translocated to, 4). Atlas Genet Cytogenet Oncol Haematol. December 1997 .
URL : http://AtlasGeneticsOncology.org/Genes/AF6.html

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/handle/2042/32049/12-1997-AF6.pdf   [ Bibliographic record ]

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indexed on : Sat Apr 28 15:04:15 CEST 2012

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