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LAF4 (lymphoid nuclear protein related to AF4)

Identity

Other namesMLLT2-related protein, lymphoid nuclear protein 4
HGNC (Hugo) AFF3
Location 2q11.2-2q12
Location_base_pair Starts at 99530148 and ends at 100088477 bp from pter ( according to hg18-Mar_2006)  [Mapping]

DNA/RNA

Description at least 17 exons.
Transcription in a telomere to centromere direction; 3857 bp mRNA; 3684 bp open reading frame.

Protein

Description 1227 amino acids; 133734 Da.
Expression Preferentially expressed in lymphoid tissues, highest levels being found in the thymus. Lower expression in brain and lung.
Localisation Nuclear
Function Putative transcription activator that may function in lymphoid development and oncogenesis. Binds in vitro to double-stranded DNA
Homology Belongs to the AF4/LAF4/FMR2/AF5q31 family.

Implicated in

Entity t(2;11)(q11;q23) . --> MLL-LAF4
Note MLL fusion partner at chromosome 2 in infant ALL
Disease The three cases reported to date were all infant-ALL with proB phenotype
Prognosis Prognosis is poor, although based on only three cases.
Cytogenetics The three reported cases harboured different rearrangements involving chromosomes 2 and 11: t(2;11)(q11;q23), t(2;11)(p15;p14), and ins(11;2)(q23;q11.2q11.2).
Abnormal Protein The MLL-LAF4 fusion protein includes the transactivation domain of LAF4 that is part of the AF4/LAF4/FMR2 homology domain.
 
Coding sequence of LAF4 compared to AF4 and site of fusion. Schematic representation of MLL, LAF4, AF4, and the putative MLL-LAF4 fusion protein. Domains in MLL are shaded: MT, DNA methyltransferase homology region; TRX, Drosophila trithorax homology. The percentage of amino acid homology between corresponding regions of LAF4 and AF4 is indicated: NHD, N-terminal homology domain; ALF, AF4/LAF4/FMR2 homology domain; TAD, transactivation domain; NLS, nuclear localization sequence; CHD, C-terminal homology domain. Arrows indicate the fusion sites with MLL. The breakpoint in LAF4 corresponds to one of the known breakpoints in AF4.
  

Breakpoints

 

External links

Nomenclature
HGNC (Hugo)AFF3   6473
Entrez_Gene (NCBI)AFF3  3899  AF4/FMR2 family, member 3
Cards
AtlasLAF4ID315
GeneCards (Weizmann)AFF3
Ensembl (Hinxton)ENSG00000144218 [Gene_View]  AFF3 [Vega]
AceView (NCBI)AFF3
Genatlas (Paris)AFF3
euGene (Indiana)3899
SOURCE (Stanford)NM_001025108 NM_002285
Genomic and cartography
GoldenPath (UCSC)AFF3  -     chr2:99530148-100088477 -  2q11.2-q12   [Description]    (hg18-Mar_2006)
EnsemblAFF3 - 2q11.2-q12 [CytoView]
Mapping of homologs : NCBIAFF3 [Mapview]
OMIM601464   
Gene and transcription
Gene : Genbank (Entrez)AB209634 AK055117 AK091320 AK092327 AK290468
Reference sequence (RefSeq transcript) :SRSNM_001025108 NM_002285
Reference transcript : EntrezNM_001025108 NM_002285
RefSeq genomic : SRSAC_000045 AC_000134 NC_000002 NT_022171 NW_001838818 NW_928052
RefSeq genomic : EntrezAC_000045 AC_000134 NC_000002 NT_022171 NW_001838818 NW_928052
Consensus coding sequences : CCDS NCBIAFF3
Cluster EST : UnigeneHs.444414 [ SRS ] Hs.444414 [ NCBI ]
Alternative Splicing : Fast-db (Paris)8910
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtP51826 (SRS) P51826 (Expasy) P51826 (Uniprot)
With graphics : InterProP51826
Splice isoforms : VarSplice FASTAP51826(VarSplice FASTA)
Domains : Interpro (SRS)AF-4   
Domains : Interpro (EBI)AF-4   
Related proteins : CluSTrP51826
Domain families : Pfam SRSAF-4 (PF05110)   
Domain families : Pfam SangerAF-4 (PF05110)   
Domain families : Pfam NCBIpfam05110   
Blocks (Seattle)P51826
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD03272
Protein Interaction databases
DIP (DOE-UCLA)P51826
IntAct (EBI)P51826
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIAFF3
SNP : GeneSNP UtahAFF3
SNP : HGBaseAFF3
Genetic variants : HAPMAPAFF3
Somatic Mutations in Cancer : COSMICAFF3 
Translocation Breakpoints in Cancer : TICdbAFF3 
Mutations and Diseases : HGMDAFF3
Hereditary diseases : OMIM601464   
Hereditary diseases : GENETests601464   
Diseases : Genetic AssociationAFF3
General knowledge
Homologs : HomoloGeneAFF3
Homology/Alignments : Family Browser UCSCAFF3
Phylogenetic Trees/Animal Genes : TreeFamAFF3
Chemical/Protein Interactions : CTD3899
Keywords Ontology : AmiGODNA binding  nucleus  transcription  regulation of transcription, DNA-dependent  multicellular organismal development  
Keywords Ontology : EGO-EBIDNA binding  nucleus  transcription  regulation of transcription, DNA-dependent  multicellular organismal development  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesAFF3 Related clones (RZPD - Berlin)
Literature
PubMed14 Pubmed reference(s) in Entrez
PubGeneAFF3

Bibliography

LAF-4 encodes a lymphoid nuclear protein with transactivation potential that is homologous to AF-4, the gene fused to MLL in t(4;11) leukemias.
Ma C, Staudt LM
Blood. 1996 ; 87 (2) : 734-745.
PMID 8555498
 
LAF4, an AF4-related gene, is fused to MLL in infant acute lymphoblastic leukemia.
von Bergh AR, Beverloo HB, Rombout P, van Wering ER, van Weel MH, Beverstock GC, Kluin PM, Slater RM, Schuuring E
Genes, chromosomes & cancer. 2002 ; 35 (1) : 92-96.
PMID 12203795
 
Occurrence of an MLL/LAF4 fusion gene caused by the insertion ins(11;2)(q23;q11.2q11.2) in an infant with acute lymphoblastic leukemia.
Bruch J, Wilda M, Teigler-Schlegel A, Harbott J, Borkhardt A, Metzler M
Genes, chromosomes & cancer. 2003 ; 37 (1) : 106-109.
PMID 12661012
 
Fusion of an AF4-related gene, LAF4, to MLL in childhood acute lymphoblastic leukemia with t(2;11)(q11;q23).
Hiwatari M, Taki T, Taketani T, Taniwaki M, Sugita K, Okuya M, Eguchi M, Ida K, Hayashi Y
Oncogene. 2003 ; 22 (18) : 2851-2855.
PMID 12743608
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written08-2003Anne RM von Bergh

Citation

This paper should be referenced as such :
von Bergh ARM . LAF4 (lymphoid nuclear protein related to AF4). Atlas Genet Cytogenet Oncol Haematol. August 2003 .
URL : http://AtlasGeneticsOncology.org/Genes/LAF4ID315.html

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indexed on : Sat Jun 27 16:42:16 CEST 2009
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