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
AFF4
LOCATION
5q31.1
IMAGE
Atlas Image
LEGEND
AF5q31 (5q31) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
27125
ALIAS
AF5Q31,CHOPS,MCEF
FUSION GENES
Show Gene Fusions

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

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/favicon/manifest.json

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