Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

AFF1 (AF4/FMR2 family, member 1)

Identity

Other namesFEL
AF4
ALL1
MLLT2 (myeloid/lymphoid leukemia translocated to, 2).
HGNC (Hugo) AFF1
LocusID (NCBI) 4299
Location 4q21.3
Location_base_pair Starts at 87856154 and ends at 88062206 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  MLLT2 (4q21) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.

DNA/RNA

 
  Gene structure of AF4, containing the exon/intron structure as well as the distances of all three first exons (1a is encoded by two exons; 1b and 1c) and their distances from each other (unpublished data). There is also a stop in intron 3 (as designated) and an alternative splice of exon 18 to the 3'-NTR, skipping exon 19 and 20. Therefore this protein comes in different flavors, as there are presumably three independent promotor, and one carboxy-terminal exon skipping.
Transcription alternate splicing in 5' -> 10.5 and 12 kb; coding sequences: 3.6 kb. In addition, there are three independent first exons 1a, 1b and 1c (yet unpublished).

Protein

Description 1210 amino acids; 140 KDa; contains many serine and proline rich sequences, a nuclear targeting sequence and a concensus sequence for ATP/GTP binding
Expression widely expressed
Localisation nuclear
Function transcription activator
Homology LAF4, AF5 and FMR-2

Implicated in

Entity t(4;11)(q21;q23)/acute leukaemias. --> MLL -AF4
Disease typically CD19+ B-ALL, biphenotypic AL, at times ANLL (M4/M5); may be congenital; treatment related leukaemia (secondary to epipodophyllotoxins)
Prognosis median survival < 1yr
Cytogenetics additional chromosome anomalies are found in 1/4 of cases of which is the i(7q)
Hybrid/Mutated Gene 5' MLL-3' AF4; 12kb
Abnormal Protein 240 kDa protein with about 1400 aminoacids from NH2 MLL and 850 from COOH AF4 (variable breakpoints); the reciprocal may or may not be expressed
  

External links

Nomenclature
HGNC (Hugo)AFF1   7135
Entrez_Gene (NCBI)AFF1  4299  AF4/FMR2 family, member 1
Cards
AtlasAF4
GeneCards (Weizmann)AFF1
Ensembl (Hinxton)ENSG00000172493 [Gene_View]  chr4:87856154-88062206 [Contig_View]  AFF1 [Vega]
AceView (NCBI)AFF1
Genatlas (Paris)AFF1
SOURCE (Stanford)NM_001166693 NM_005935
Genomic and cartography
GoldenPath (UCSC)AFF1  -  4q21.3   chr4:87856154-88062206 +  4q21.3   [Description]    (hg19-Feb_2009)
EnsemblAFF1 - 4q21.3 [CytoView]
Mapping of homologs : NCBIAFF1 [Mapview]
OMIM159557   
Gene and transcription
Genbank (Entrez)AF024541 AF177236 AF177237 AF177238 AF177239
RefSeq transcript (SRS)NM_001166693 NM_005935
RefSeq transcript (Entrez)NM_001166693 NM_005935
RefSeq genomic (SRS)AC_000136 NC_000004 NC_018915 NT_016354 NW_001838915 NW_004078021
RefSeq genomic (Entrez)AC_000136 NC_000004 NC_018915 NT_016354 NW_001838915 NW_004078021
Consensus coding sequences : CCDS (NCBI)AFF1
Cluster EST : UnigeneHs.480190 [ SRS ] Hs.480190 [ NCBI ]
CGAP (NCI)Hs.480190
Alternative Splicing : Fast-db (Paris)GSHG0022708
Alternative Splicing GalleryENSG00000172493
Gene ExpressionAFF1 [ NCBI-GEO ]   AFF1 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51825 (SRS) P51825 (Uniprot)
NextProtP51825
With graphics : InterProP51825
Splice isoforms : SwissVarP51825(Swissvar)
Domains : Interpro (SRS)TF_AF4/FMR2   
Domains : Interpro (EBI)TF_AF4/FMR2   
Related proteins : CluSTrP51825
Domain families : Pfam (SRS)AF-4 (PF05110)   
Domain families : Pfam (Sanger)AF-4 (PF05110)   
Domain families : Pfam (NCBI)pfam05110   
DMDM4299
Blocks (Seattle)P51825
Human Protein AtlasENSG00000172493
HPRD08871
IPIIPI00873029   IPI00908935   IPI00965976   IPI01010992   IPI00164675   IPI00396310   IPI00968090   
Protein Interaction databases
DIP (DOE-UCLA)P51825
IntAct (EBI)P51825
FunCoupENSG00000172493
REACTOMEAFF1
Protein Interaction Database4299
BioGRIDAFF1
InParanoidP51825
Interologous Interaction database P51825
IntegromeDBAFF1
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)AFF1
SNP (GeneSNP Utah)AFF1
SNP : HGBaseAFF1
Genetic variants : HAPMAPAFF1
Somatic Mutations in Cancer : COSMICAFF1 
CONAN: Copy Number AnalysisAFF1 
Translocation Breakpoints in Cancer : TICdbAFF1 
Mutations and Diseases : HGMDAFF1
OMIM159557   
GENETests159557   
Disease Genetic AssociationAFF1
Huge Navigator AFF1 [HugePedia]  AFF1 [HugeCancerGEM]
Genomic VariantsAFF1  AFF1 [DGVbeta]
snp3D : Map Gene to Disease4299
General knowledge
Homologs : HomoloGeneAFF1
Homology/Alignments : Family Browser (UCSC)AFF1
Phylogenetic Trees/Animal Genes : TreeFamAFF1
Chemical/Protein Interactions : CTD4299
Chemical/Pharm GKB GenePA30851
Clinical trialAFF1
Cancer Resource (Charite)ENSG00000172493
Ontology : AmiGOsequence-specific DNA binding transcription factor activity  protein binding  nucleus  regulation of transcription, DNA-dependent  
Ontology : EGO-EBIsequence-specific DNA binding transcription factor activity  protein binding  nucleus  regulation of transcription, DNA-dependent  
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Litterature
PubMed51 Pubmed reference(s) in Entrez
PubGeneAFF1
iHOPAFF1

Bibliography

A serine/proline-rich protein is fused to HRX in t(4;11) acute leukemias.
Morrissey J, Tkachuk DC, Milatovich A, Francke U, Link M, Cleary ML
Blood. 1993 ; 81 (5) : 1124-1131.
PMID 8443374
 
The t(4;11) chromosome translocation of human acute leukemias fuses the ALL-1 gene, related to Drosophila trithorax, to the AF-4 gene.
Gu Y, Nakamura T, Alder H, Prasad R, Canaani O, Cimino G, Croce CM, Canaani E
Cell. 1992 ; 71 (4) : 701-708.
PMID 1423625
 
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
 
Exon/intron structure of the human AF-4 gene, a member of the AF-4/LAF-4/FMR-2 gene family coding for a nuclear protein with structural alterations in acute leukaemia.
Nilson I, Reichel M, Ennas MG, Greim R, Knrr C, Siegler G, Greil J, Fey GH, Marschalek R
British journal of haematology. 1997 ; 98 (1) : 157-169.
PMID 9233580
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written12-1997Jean-Loup Huret
Updated12-2002Rolf Marschalek

Citation

This paper should be referenced as such :
Huret JL . AFF1 (AF4/FMR2 family, member 1). Atlas Genet Cytogenet Oncol Haematol. December 1997 .
URL : http://AtlasGeneticsOncology.org/Genes/AF4.html
Marschalek R . AFF1 (AF4/FMR2 family, member 1). Atlas Genet Cytogenet Oncol Haematol. December 2002 .
URL : http://AtlasGeneticsOncology.org/Genes/AF4.html

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/handle/2042/32048/12-1997-AF4.pdf   [ Bibliographic record ]
http://documents.irevues.inist.fr/bitstream/2042/37926/1/12-2002-AF4.pdf   [ Bibliographic record ]

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 13:00:57 CEST 2013

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.