MYBL1 (v-myb myeloblastosis viral oncogene homolog (avian)-like 1)
2009-01-01 Olesya Chayka , Arturo Sala AffiliationInstitute of Child Health Molecular Haematology, Cancer Biology Unit 30 Guilford street London, WC1N 1EH, UK
DNA/RNA
Red boxes: untranslated regions; Black boxes: coding regions.
Description
50,762 bases DNA with 15 exons.
Transcription
4,879 bases mRNA.
Proteins
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.
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.
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
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 2065336 | 1991 | Chromosome locations of the MYB related genes, AMYB and BMYB. | Barletta C et al |
| 9096377 | 1997 | Ectopic expression of A-myb in transgenic mice causes follicular hyperplasia and enhanced B lymphocyte proliferation. | DeRocco SE et al |
| 9510180 | 1998 | The A-Myb transcription factor is a marker of centroblasts in vivo. | Golay J et al |
| 8634438 | 1996 | Expression 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 |
| 10692454 | 2000 | A-Myb up-regulates Bcl-2 through a Cdx binding site in t(14;18) lymphoma cells. | Heckman CA et al |
| 7987850 | 1994 | DNA binding and transactivation activity of A-myb, a c-myb-related gene. | Ma XP et al |
| 10378697 | 1999 | The myb gene family in cell growth, differentiation and apoptosis. | Oh IH et al |
| 15879465 | 2005 | Estrogen-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 |
| 9109487 | 1997 | Arrest of spermatogenesis and defective breast development in mice lacking A-myb. | Toscani A et al |
| 9285555 | 1997 | Linking 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 ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000185697 | ENST00000517885 | E7EWZ1 |
| ENSG00000185697 | ENST00000522677 | P10243 |
| ENSG00000185697 | ENST00000524176 | P10243 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38368814 | 2024 | Adenoid cystic carcinoma of the Bartholin's gland is underpinned by MYB- and MYBL1- rearrangements. | 0 |
| 38473786 | 2024 | Characterization of MYBL1 Gene in Triple-Negative Breast Cancers and the Genes' Relationship to Alterations Identified at the Chromosome 8q Loci. | 0 |
| 38797732 | 2024 | Downregulation of MYBL1 in endothelial cells contributes to atherosclerosis by repressing PLEKHM1-inducing autophagy. | 1 |
| 38368814 | 2024 | Adenoid cystic carcinoma of the Bartholin's gland is underpinned by MYB- and MYBL1- rearrangements. | 0 |
| 38473786 | 2024 | Characterization of MYBL1 Gene in Triple-Negative Breast Cancers and the Genes' Relationship to Alterations Identified at the Chromosome 8q Loci. | 0 |
| 38797732 | 2024 | Downregulation of MYBL1 in endothelial cells contributes to atherosclerosis by repressing PLEKHM1-inducing autophagy. | 1 |
| 36074655 | 2023 | Pediatric-type diffuse low-grade glioma with MYB/MYBL1 alteration: report of 2 cases. | 7 |
| 36074655 | 2023 | Pediatric-type diffuse low-grade glioma with MYB/MYBL1 alteration: report of 2 cases. | 7 |
| 35987690 | 2022 | MYBL1 induces transcriptional activation of ANGPT2 to promote tumor angiogenesis and confer sorafenib resistance in human hepatocellular carcinoma. | 11 |
| 36591240 | 2022 | Integration analysis identifies MYBL1 as a novel immunotherapy biomarker affecting the immune microenvironment in clear cell renal cell carcinoma: Evidence based on machine learning and experiments. | 1 |
| 35987690 | 2022 | MYBL1 induces transcriptional activation of ANGPT2 to promote tumor angiogenesis and confer sorafenib resistance in human hepatocellular carcinoma. | 11 |
| 36591240 | 2022 | Integration analysis identifies MYBL1 as a novel immunotherapy biomarker affecting the immune microenvironment in clear cell renal cell carcinoma: Evidence based on machine learning and experiments. | 1 |
| 31563982 | 2020 | Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course. | 51 |
| 31563982 | 2020 | Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course. | 51 |
| 31028361 | 2019 | Detecting MYB and MYBL1 fusion genes in tracheobronchial adenoid cystic carcinoma by targeted RNA-sequencing. | 15 |
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
