AFF4 (ALL1 fused gene from chromosome 5q31)

2003-06-01   Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
LOCATION
5q31.1
IMAGE
Atlas Image
LEGEND
AF5q31 (5q31) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
ALIAS
AF5Q31,CHOPS,MCEF
FUSION GENES

DNA/RNA

Description

at least 16 exons

Transcription

in a telomere to centromere direction; 4235 bp mRNA; open reading frame: 3491 bp

Proteins

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 name
ins(5;11)(q31;q13q23)acute lymphoblastic leukemia (ALL) --> KMT2A-AFF4
Note
poorly defined: only 2 cases to date, infants with CD19+ ALL; complete remission, relapse and death
Hybrid gene
AF5Q31 and MLL are transcribed in opposite directions, and inverted insertion is required

Bibliography

Pubmed IDLast YearTitleAuthors
127599322003Insertion 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 et al
105887401999AF5q31, a newly identified AF4-related gene, is fused to MLL in infant acute lymphoblastic leukemia with ins(5;11)(q31;q13q23).Taki T et al

Other Information

Locus ID:

NCBI: 27125
MIM: 604417
HGNC: 17869
Ensembl: ENSG00000072364

Variants:

dbSNP: 27125
ClinVar: 27125
TCGA: ENSG00000072364
COSMIC: AFF4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000072364ENST00000265343Q9UHB7
ENSG00000072364ENST00000378595Q9UHB7
ENSG00000072364ENST00000421773C9JCE0
ENSG00000072364ENST00000425658H7C319

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase II TranscriptionREACTOMER-HSA-73857
RNA Polymerase II Pre-transcription EventsREACTOMER-HSA-674695
RNA Polymerase II Transcription ElongationREACTOMER-HSA-75955
Formation of RNA Pol II elongation complexREACTOMER-HSA-112382

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
201595612010AFF4, a component of the ELL/P-TEFb elongation complex and a shared subunit of MLL chimeras, can link transcription elongation to leukemia.249
204719482010HIV-1 Tat and host AFF4 recruit two transcription elongation factors into a bifunctional complex for coordinated activation of HIV-1 transcription.189
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
306592662019The m6A methyltransferase METTL3 promotes bladder cancer progression via AFF4/NF-κB/MYC signaling network.44
232510332013HIV-1 Tat recruits transcription elongation factors dispersed along a flexible AFF4 scaffold.36
234711032013The AFF4 scaffold binds human P-TEFb adjacent to HIV Tat.35
257307672015Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.33
120658982002MCEF, the newest member of the AF4 family of transcription factors involved in leukemia, is a positive transcription elongation factor-b-associated protein.21
213303002011Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability.21
277317972016Insights into HIV-1 proviral transcription from integrative structure and dynamics of the Tat:AFF4:P-TEFb:TAR complex.16

Citation

Jean-Loup Huret

AFF4 (ALL1 fused gene from chromosome 5q31)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/230/aff4

Historical Card

2000-04-01 AFF4 (ALL1 fused gene from chromosome 5q31) by  Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France