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AFF4 (ALL1 fused gene from chromosome 5q31)

Identity

Other namesAF5q31 (ALL1 fused gene from chromosome 5q31)
HGNC (Hugo) AFF4
LocusID (NCBI) 27125
Location 5q31
Location_base_pair Starts at 132211071 and ends at 132299354 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  AF5q31 (5q31) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it

DNA/RNA

Description at least 16 exons
Transcription in a telomere to centromere direction; 4235 bp mRNA; open reading frame: 3491 bp

Protein

Description 1163 amino acids; 127 kDa
Expression mostly in fetal tissues (heart, lung, brain, liver); at a low level in adult tissues; therefore, AF5q31 may play a critical role in the fetal development
Homology with AF4-related proteins: AF4, the gene involved int(4;11)(q21;q23), LAF4, FMR2

Implicated in

Entity ins(5;11)(q31;q13q23)acute lymphoblastic leukemia (ALL) --> MLL-AF5q31
Note poorly defined: only 2 cases to date, infants with CD19+ ALL; complete remission, relapse and death
Hybrid/Mutated Gene AF5Q31 and MLL are transcribed in opposite directions, and inverted insertion is required
  

External links

Nomenclature
HGNC (Hugo)AFF4   17869
Entrez_Gene (NCBI)AFF4  27125  AF4/FMR2 family, member 4
Cards
AtlasAF5q31ID230
GeneCards (Weizmann)AFF4
Ensembl (Hinxton)ENSG00000072364 [Gene_View]  chr5:132211071-132299354 [Contig_View]  AFF4 [Vega]
AceView (NCBI)AFF4
Genatlas (Paris)AFF4
euGene (Indiana)27125
SOURCE (Stanford)NM_014423
Genomic and cartography
GoldenPath (UCSC)AFF4  -  5q31   chr5:132211071-132299354 -  5q31   [Description]    (hg19-Feb_2009)
EnsemblAFF4 - 5q31 [CytoView]
Mapping of homologs : NCBIAFF4 [Mapview]
OMIM604417   
Gene and transcription
Genbank (Entrez)AA706988 AB209547 AF161355 AF173886 AF197927
RefSeq transcript (SRS)NM_014423
RefSeq transcript (Entrez)NM_014423
RefSeq genomic (SRS)AC_000137 NC_000005 NG_030340 NT_034772 NW_001838952
RefSeq genomic (Entrez)AC_000137 NC_000005 NG_030340 NT_034772 NW_001838952
Consensus coding sequences : CCDS (NCBI)AFF4
Cluster EST : UnigeneHs.664840 [ SRS ] Hs.664840 [ NCBI ]
Alternative Splicing : Fast-db (Paris)9665
Alternative Splicing GalleryENSG00000072364
Gene ExpressionAFF4 [ NCBI-GEO ]   AFF4 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UHB7 (SRS) Q9UHB7 (Uniprot)
With graphics : InterProQ9UHB7
Splice isoforms : SwissVarQ9UHB7(Swissvar)
Domains : Interpro (SRS)TF_AF4/FMR2   
Domains : Interpro (EBI)TF_AF4/FMR2   
Related proteins : CluSTrQ9UHB7
Domain families : Pfam (SRS)AF-4 (PF05110)   
Domain families : Pfam (Sanger)AF-4 (PF05110)   
Domain families : Pfam (NCBI)pfam05110   
Blocks (Seattle)Q9UHB7
Human Protein AtlasENSG00000072364
HPRD09187
IPIIPI00004344   IPI00383219   IPI00658213   IPI00384917   IPI00789165   IPI00965337   
Protein Interaction databases
DIP (DOE-UCLA)Q9UHB7
IntAct (EBI)Q9UHB7
FunCoupENSG00000072364
REACTOMEAFF4
BioGRIDAFF4
InParanoidQ9UHB7
Interologous Interaction database Q9UHB7
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)AFF4
SNP (GeneSNP Utah)AFF4
SNP : HGBaseAFF4
Genetic variants : HAPMAPAFF4
Somatic Mutations in Cancer : COSMICAFF4 
CONAN: Copy Number AnalysisAFF4 
Translocation Breakpoints in Cancer : TICdbAFF4 
Mutations and Diseases : HGMDAFF4
OMIM604417   
GENETests604417   
Disease Genetic AssociationAFF4
Huge Navigator AFF4 [HugePedia]  AFF4 [HugeCancerGEM]
Genomic VariantsAFF4
snp3D : Map Gene to Disease27125
General knowledge
Homologs : HomoloGeneAFF4
Homology/Alignments : Family Browser (UCSC)AFF4
Phylogenetic Trees/Animal Genes : TreeFamAFF4
Chemical/Protein Interactions : CTD27125
Chemical/Pharm GKB GenePA142672641
Clinical trialAFF4
Cancer Resource (Charite)ENSG00000072364
Ontology : AmiGOsequence-specific DNA binding transcription factor activity  protein binding  nucleus  nucleolus  mitochondrion  regulation of transcription, DNA-dependent  transcription from RNA polymerase II promoter  spermatid development  
Ontology : EGO-EBIsequence-specific DNA binding transcription factor activity  protein binding  nucleus  nucleolus  mitochondrion  regulation of transcription, DNA-dependent  transcription from RNA polymerase II promoter  spermatid development  
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Probes : ImagenesAFF4 Related clones (RZPD - Berlin)
Litterature
PubMed23 Pubmed reference(s) in Entrez
PubGeneAFF4
iHOPAFF4

Bibliography

AF5q31, a newly identified AF4-related gene, is fused to MLL in infant acute lymphoblastic leukemia with ins(5;11)(q31;q13q23).
Taki T, Kano H, Taniwaki M, Sako M, Yanagisawa M, Hayashi Y
Proceedings of the National Academy of Sciences of the United States of America. 1999 ; 96 (25) : 14535-14540.
PMID 10588740
 
Insertion of MLL sequences into chromosome band 5q31 results in an MLL-AF5Q31 fusion and is a rare but recurrent abnormality associated with infant leukemia.
Deveney R, Chervinsky DS, Jani-Sait SN, Grossi M, Aplan PD
Genes, chromosomes & cancer. 2003 ; 37 (3) : 326-331.
PMID 12759932
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written04-2000Jean-Loup Huret
Updated06-2003Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL . AFF4 (ALL1 fused gene from chromosome 5q31). Atlas Genet Cytogenet Oncol Haematol. April 2000 .
URL : http://AtlasGeneticsOncology.org/Genes/AF5q31ID230.html
Huret JL . AFF4 (ALL1 fused gene from chromosome 5q31). Atlas Genet Cytogenet Oncol Haematol. June 2003 .
URL : http://AtlasGeneticsOncology.org/Genes/AF5q31ID230.html

This paper is referenced by INIST as such :
   [ Bibliographic record ]
http://documents.irevues.inist.fr/bitstream/2042/37978/1/06-2003-AF5q31ID230.pdf   [ Bibliographic record ]

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indexed on : Sat Apr 28 15:09:46 CEST 2012
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