MYBL1 (v-myb myeloblastosis viral oncogene homolog (avian)-like 1)

2009-01-01   Olesya Chayka  , Arturo Sala  

Institute of Child Health Molecular Haematology, Cancer Biology Unit 30 Guilford street London, WC1N 1EH, UK

Identity

HGNC
LOCATION
8q13.1
LOCUSID
ALIAS
A-MYB,AMYB
FUSION GENES

DNA/RNA

Atlas Image
Red boxes: untranslated regions; Black boxes: coding regions.

Description

50,762 bases DNA with 15 exons.

Transcription

4,879 bases mRNA.

Proteins

Atlas Image
R1, R2 and R3 form DNA-binding domain, TA - transactivation domain, CR - conserved region, RD - negative regulatory domain.

Description

752 amino acids, 95 kDa protein.
R1, R2, R3 - three repeats 50 amino acids long, R2 and R3 contain HTH (helix-turn-helix) motives with unconventional turns required for DNA-binding activity, R1 serves as a DNA/protein complex stabilizer;
TA contains acidic amino acids and responsible for transcriptional activation;
CR known as an inhibitor of specific DNA binding activity;
RD is responsible for repression of transactivation function of A-MYB.

Expression

Mainly in spermatocytes, neuronal cells and B-lymphoid cells. Also was reported to be expressed in uterine cells and B-cells germinal centres.

Localisation

Nucleus.

Function

Transcription factor which play a role in the proliferation and differentiation of neurogenic, spermatogenic and B-lymphoid cells. A-MYB knockout mice demonstrated growth abnormalities, and defects in spermatogenesis and female breast development, whereas constantly high expression level of A-MYB in transgenic mice caused hyperplasia in the lymph nodes and spleen.

Homology

A-MYB is a member of MYB transcription factors family, which includes C-MYB and B-MYB, with high homology within TA and RD regions. DNA-binding domain is almost identical with that of B-MYB and C-MYB and conserved between mouse, human, drosophila and chicken.

Implicated in

Entity name
Uterine leiomyoma
Disease
Amplification of A-MYB was detected in uterine leiomyoma cells (UtLM) after estrogen stimulation.
Oncogenesis
A-MYB overexpression results in promotion of cells proliferation.
Entity name
B-cell haematological malignancies
Disease
High A-MYB mRNA and protein expression was described in Burkitts Lymphoma and sIg+ B-Acute Lymphoblastic Leukemia cell lines and patient samples. A-MYB was also notably expressed in some Chronic Lymphocytic Leukemias (CLL).
Oncogenesis
Deregulation of B-cells differentiation that may be caused by A-MYB.
Entity name
Lymphoma
Disease
Expression of A-MYB was demonstrated in the DHL-4 lymphoma cell line with t(14;18)(q32;q21) translocation.
Oncogenesis
A-MYB activates BCL2 P2 promoter through a Cdx binding site promoting resistance of these cells to apoptosis.

Article Bibliography

Other Information

Locus ID:

NCBI: 4603
MIM: 159405
HGNC: 7547
Ensembl: ENSG00000185697

Variants:

dbSNP: 4603
ClinVar: 4603
TCGA: ENSG00000185697
COSMIC: MYBL1

RNA/Proteins

Expression (GTEx)

0
5
10
15

Pathways

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Citation

Olesya Chayka ; Arturo Sala

MYBL1 (v-myb myeloblastosis viral oncogene homolog (avian)-like 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-01-01

Online version: http://atlasgeneticsoncology.org/gene/41468/mybl1-(v-myb-myeloblastosis-viral-oncogene-homolog-(avian)-like-1)