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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
Location 6q27
Location_base_pair Starts at 167970520 and ends at 168108564 bp from pter ( according to hg18-Mar_2006)  [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]  MLLT4 [Vega]
AceView (NCBI)MLLT4
Genatlas (Paris)MLLT4
euGene (Indiana)4301
SOURCE (Stanford)NM_001040000 NM_001040001 NM_005936
Gene Expression (Array Express) ENSG00000130396
Genomic and cartography
GoldenPath (UCSC)MLLT4  -  6q27   chr6:167970520-168108564 +  6q27   [Description]    (hg18-Mar_2006)
EnsemblMLLT4 - 6q27 [CytoView]
Mapping of homologs : NCBIMLLT4 [Mapview]
OMIM159559   
Gene and transcription
Gene : Genbank (Entrez)AB209420 AF085836 AK055689 AK091815 AL161973
Reference sequence (RefSeq transcript) :SRSNM_001040000 NM_001040001 NM_005936
Reference transcript : EntrezNM_001040000 NM_001040001 NM_005936
RefSeq genomic : SRSAC_000049 AC_000138 NC_000006 NT_025741 NW_001838994 NW_923184
RefSeq genomic : EntrezAC_000049 AC_000138 NC_000006 NT_025741 NW_001838994 NW_923184
Consensus coding sequences : CCDS NCBIMLLT4
Cluster EST : UnigeneHs.708726 [ SRS ] Hs.708726 [ NCBI ]
Alternative Splicing : Fast-db (Paris)17058
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtP55196 (SRS) P55196 (Expasy) P55196 (Uniprot)
With graphics : InterProP55196
Splice isoforms : VarSplice FASTAP55196(VarSplice FASTA)
Domaine pattern : Prosite (SRS)DILUTE (PS51126)    FHA_DOMAIN (PS50006)    PDZ (PS50106)    RA (PS50200)   
Domain pattern : Prosite (Expaxy)DILUTE (PS51126)    FHA_DOMAIN (PS50006)    PDZ (PS50106)    RA (PS50200)   
Domains : Interpro (SRS)Dil_domain    Dilute    FHA    PDZ/DHR/GLGF    Ras-assoc    SMAD_FHA_domain   
Domains : Interpro (EBI)Dil_domain    Dilute    FHA    PDZ/DHR/GLGF    Ras-assoc    SMAD_FHA_domain   
Related proteins : CluSTrP55196
Domain families : Pfam SRSDIL (PF01843)    FHA (PF00498)    PDZ (PF00595)    RA (PF00788)   
Domain families : Pfam SangerDIL (PF01843)    FHA (PF00498)    PDZ (PF00595)    RA (PF00788)   
Domain families : Pfam NCBIpfam01843    pfam00498    pfam00595    pfam00788   
Domain families : Smart EMBLFHA (SM00240)  PDZ (SM00228)  RA (SM00314)  
Blocks (Seattle)P55196
Crystal structure of protein : PDB SRS1T2M    1XZ9    2AIN    2EXG   
Crystal structure of protein : PDBSum1T2M    1XZ9    2AIN    2EXG   
Crystal structure of protein : IMB1T2M    1XZ9    2AIN    2EXG   
Crystal structure of protein : PDB RSDB1T2M    1XZ9    2AIN    2EXG   
HPRD01164
Protein Interaction databases
DIP (DOE-UCLA)P55196
IntAct (EBI)P55196
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIMLLT4
SNP : GeneSNP UtahMLLT4
SNP : HGBaseMLLT4
Genetic variants : HAPMAPMLLT4
Somatic Mutations in Cancer : COSMICMLLT4 
Translocation Breakpoints in Cancer : TICdbMLLT4 
Mutations and Diseases : HGMDMLLT4
Hereditary diseases : OMIM159559   
Hereditary diseases : GENETests159559   
Diseases : Genetic AssociationMLLT4
General knowledge
Homologs : HomoloGeneMLLT4
Homology/Alignments : Family Browser UCSCMLLT4
Phylogenetic Trees/Animal Genes : TreeFamMLLT4
Chemical/Protein Interactions : CTD4301
Keywords Ontology : AmiGOcytosol  cell-cell junction  adherens junction  cell adhesion  signal transduction  cell-cell signaling  protein C-terminus binding  
Keywords Ontology : EGO-EBIcytosol  cell-cell junction  adherens junction  cell adhesion  signal transduction  cell-cell signaling  protein C-terminus binding  
Pathways : BIOCARTA
Pathways : KEGGAdherens junctionTight junctionLeukocyte transendothelial migration
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Probes : ImagenesMLLT4 Related clones (RZPD - Berlin)
Literature
PubMed54 Pubmed reference(s) in Entrez
PubGeneMLLT4

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

Search in all EBI   NCBI

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

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indexed on : Sat Feb 6 13:40:37 CET 2010

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