AFF1 (AF4/FMR2 family, member 1)
2002-12-01 Rolf Marschalek   AffiliationInstituts für Pharmazeutische Biologie, JWG Universitaet Frankfurt\\\/Main, Biozentrum, N230, 303, Marie Curie Str. 9, D-60439 Frankfurt\\\/Main, Germany
Identity
HGNC
LOCATION
4q21.3
IMAGE

LEGEND
MLLT2 (4q21) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
FUSION GENES
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as the distances of all three first exons (1a is encoded by two exons; 1b and 1c) and their distances from each other (unpublished data).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 In addition, there are three independent first exons 1a, 1b and 1c (yet unpublished).
Proteins
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 name
Disease
typically CD19+ B-ALL, biphenotypic AL, at times AML (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 gene
5 MLL-3 AF4; 12kb
Fusion 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
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 7542910 | 1995 | Molecular basis of 11q23 rearrangements in hematopoietic malignant proliferations. | Bernard OA et al |
| 1423625 | 1992 | 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 et al |
| 8443374 | 1993 | A serine/proline-rich protein is fused to HRX in t(4;11) acute leukemias. | Morrissey J et al |
| 9233580 | 1997 | 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 et al |
| 8558942 | 1996 | 11q23 rearrangements in acute leukemia. | Rubnitz JE et al |
| 8977038 | 1996 | Chromosome abnormalities in leukaemia: the 11q23 paradigm. | Young BD et al |
Other Information
Locus ID:
NCBI: 4299
MIM: 159557
HGNC: 7135
Ensembl: ENSG00000172493
Variants:
dbSNP: 4299
ClinVar: 4299
TCGA: ENSG00000172493
COSMIC: AFF1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Transcriptional misregulation in cancer | KEGG | ko05202 |
| Transcriptional misregulation in cancer | KEGG | hsa05202 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38029383 | 2024 | Functional relevance of circRNA aberrant expression in pediatric acute leukemia with KMT2A::AFF1 fusion. | 1 |
| 38029383 | 2024 | Functional relevance of circRNA aberrant expression in pediatric acute leukemia with KMT2A::AFF1 fusion. | 1 |
| 37313815 | 2023 | [AF4/FMR2 and IL-10 gene single nucleotide polymorphisms are correlated with disease susceptibility and immune infiltration in ankylosing spondylitis]. | 0 |
| 37313815 | 2023 | [AF4/FMR2 and IL-10 gene single nucleotide polymorphisms are correlated with disease susceptibility and immune infiltration in ankylosing spondylitis]. | 0 |
| 33069783 | 2021 | HOXA9/IRX1 expression pattern defines two subgroups of infant MLL-AF4-driven acute lymphoblastic leukemia. | 7 |
| 33493519 | 2021 | Suppression of the NTS-CPS1 regulatory axis by AFF1 in lung adenocarcinoma cells. | 1 |
| 33924850 | 2021 | Nuclear FGFR2 Interacts with the MLL-AF4 Oncogenic Chimera and Positively Regulates HOXA9 Gene Expression in t(4;11) Leukemia Cells. | 5 |
| 34048072 | 2021 | Prognostic impact of KMT2A-AFF1-positivity in 926 BCR-ABL1-negative B-lineage acute lymphoblastic leukemia patients treated in GIMEMA clinical trials since 1996. | 4 |
| 34111240 | 2021 | miR-130b and miR-128a are essential lineage-specific codrivers of t(4;11) MLL-AF4 acute leukemia. | 15 |
| 34489550 | 2021 | The role of reciprocal fusions in MLL-r acute leukemia: studying the chromosomal translocation t(4;11). | 6 |
| 34575904 | 2021 | Genetic and Epigenetic Characterization of a Discordant KMT2A/AFF1-Rearranged Infant Monozygotic Twin Pair. | 1 |
| 33069783 | 2021 | HOXA9/IRX1 expression pattern defines two subgroups of infant MLL-AF4-driven acute lymphoblastic leukemia. | 7 |
| 33493519 | 2021 | Suppression of the NTS-CPS1 regulatory axis by AFF1 in lung adenocarcinoma cells. | 1 |
| 33924850 | 2021 | Nuclear FGFR2 Interacts with the MLL-AF4 Oncogenic Chimera and Positively Regulates HOXA9 Gene Expression in t(4;11) Leukemia Cells. | 5 |
| 34048072 | 2021 | Prognostic impact of KMT2A-AFF1-positivity in 926 BCR-ABL1-negative B-lineage acute lymphoblastic leukemia patients treated in GIMEMA clinical trials since 1996. | 4 |
Citation
Rolf Marschalek
AFF1 (AF4/FMR2 family, member 1)
Atlas Genet Cytogenet Oncol Haematol. 2002-12-01
Online version: http://atlasgeneticsoncology.org/gene/3/aff1
Historical Card
1997-12-01 AFF1 (AF4/FMR2 family, member 1) by Jean-Loup Huret  Affiliation
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
