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.

Bibliography

Pubmed IDLast YearTitleAuthors
20653361991Chromosome locations of the MYB related genes, AMYB and BMYB.Barletta C et al
90963771997Ectopic expression of A-myb in transgenic mice causes follicular hyperplasia and enhanced B lymphocyte proliferation.DeRocco SE et al
95101801998The A-Myb transcription factor is a marker of centroblasts in vivo.Golay J et al
86344381996Expression of A-myb, but not c-myb and B-myb, is restricted to Burkitt's lymphoma, sIg+ B-acute lymphoblastic leukemia, and a subset of chronic lymphocytic leukemias.Golay J et al
106924542000A-Myb up-regulates Bcl-2 through a Cdx binding site in t(14;18) lymphoma cells.Heckman CA et al
79878501994DNA binding and transactivation activity of A-myb, a c-myb-related gene.Ma XP et al
103786971999The myb gene family in cell growth, differentiation and apoptosis.Oh IH et al
158794652005Estrogen-induced changes in IGF-I, Myb family and MAP kinase pathway genes in human uterine leiomyoma and normal uterine smooth muscle cell lines.Swartz CD et al
91094871997Arrest of spermatogenesis and defective breast development in mice lacking A-myb.Toscani A et al
92855551997Linking Myb to the cell cycle: cyclin-dependent phosphorylation and regulation of A-Myb activity.Ziebold U et al

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185697ENST00000517885E7EWZ1
ENSG00000185697ENST00000522677P10243
ENSG00000185697ENST00000524176P10243

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
HTLV-I infectionKEGGko05166
HTLV-I infectionKEGGhsa05166
Gene ExpressionREACTOMER-HSA-74160
Gene Silencing by RNAREACTOMER-HSA-211000
PIWI-interacting RNA (piRNA) biogenesisREACTOMER-HSA-5601884

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
236335652013Genomic analysis of diffuse pediatric low-grade gliomas identifies recurrent oncogenic truncating rearrangements in the transcription factor MYBL1.57
266316092016Novel MYBL1 Gene Rearrangements with Recurrent MYBL1-NFIB Fusions in Salivary Adenoid Cystic Carcinomas Lacking t(6;9) Translocations.44
280964682017<i>O</i>-Linked <i>N</i>-Acetylglucosamine (<i>O</i>-GlcNAc) Expression Levels Epigenetically Regulate Colon Cancer Tumorigenesis by Affecting the Cancer Stem Cell Compartment via Modulating Expression of Transcriptional Factor <i>MYBL1</i>.10
291495042018MYBL1 rearrangements and MYB amplification in breast adenoid cystic carcinomas lacking the MYB-NFIB fusion gene.10
259409472015Identification and validation of a two-gene expression index for subtype classification and prognosis in Diffuse Large B-Cell Lymphoma.8
294104902018MYB and MYBL1 in adenoid cystic carcinoma: diversity in the mode of genomic rearrangement and transcripts.6
295701282018Small Subset of Adenoid Cystic Carcinoma of the Skin Is Associated With Alterations of the MYBL1 Gene Similar to Their Extracutaneous Counterparts.0

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