MYBL1 Gene - v-Myb Avian Myeloblastosis Viral Oncogene Homolog-Like 1
Transcriptional regulator involved in cell cycle, differentiation, and cancer
Gene Information Card
| Symbol | MYBL1 |
|---|---|
| Full Name | MYB Proto-Oncogene Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q13.1 |
| NCBI Gene ID | 4603 ncbi.nlm.nih.gov/gene/4603 |
| Ensembl ID | ENSG00000185697 |
| UniProt ID | P10243 |
| OMIM ID | 159405 |
| HGNC ID | 7549 |
| Aliases | A-Myb, AMYB |
Description
MYBL1 (MYB Proto-Oncogene Like 1) encodes a transcription factor belonging to the MYB family, which includes MYB and MYBL2. The protein contains three N-terminal repeats that bind DNA and a C-terminal transactivation domain. It regulates genes involved in cell cycle progression, differentiation, and apoptosis. MYBL1 is expressed in various tissues and is implicated in cancer, particularly through chromosomal rearrangements and overexpression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | MYBL1 rearrangements (e.g., MYBL1-ZNF384 fusion) drive leukemogenesis | PMID: 28280278 |
| B-cell acute lymphoblastic leukemia | MYBL1 fusions (e.g., with PAX5) alter transcriptional programs | PMID: 30075112 |
| Breast cancer | MYBL1 overexpression correlates with poor prognosis and proliferation | PMID: 25691885 |
| Ovarian cancer | MYBL1 amplification and overexpression promote tumor growth | PMID: 23934607 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Medium |
| Lymph node | 6.7 | Medium |
| Spleen | 5.9 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.3 | High expression |
| HEK 293 (embryonic kidney) | 4.8 | Moderate expression |
| HeLa (cervical cancer) | 3.2 | Low expression |
| MCF7 (breast cancer) | 7.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| MYBL1-ZNF384 fusion | Chromosomal rearrangement | Rare in AML | Oncogenic fusion protein |
| MYBL1-PAX5 fusion | Chromosomal rearrangement | Rare in B-ALL | Altered transcription factor activity |
| Missense variants (e.g., R123W) | Missense | <1% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in cancer; MYBL1 is primarily oncogenic.
Gain of Function (GOF)
Fusion proteins (e.g., MYBL1-ZNF384) exhibit constitutive transcriptional activation, promoting proliferation.
Dominant Negative (DN)
Not described for MYBL1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• MYB family transcription factor pathway
• Cell cycle regulation
• p53 signaling pathway (indirect)
Protein Summary
MYBL1 (A-Myb) is a 600-amino-acid transcription factor with three N-terminal MYB DNA-binding repeats and a C-terminal transactivation domain. It binds to the consensus sequence YAAC(G/T)G and regulates target genes involved in cell cycle progression (e.g., CCND1, MYC) and differentiation. The protein is predominantly nuclear and is expressed in hematopoietic cells, testis, and certain epithelial tissues. Post-translational modifications include phosphorylation, which modulates its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYBL1 Knockout HEK293 Cell Line | EDJ-KQ2936 | Human | 4603 | Details Get a Quote |
| MYBL1 Knockout HCT 116 Cell Line | EDJ-KQ24051 | Human | 4603 | Details Get a Quote |
| MYBL1 Knockout HeLa Cell Line | EDJ-KQ24052 | Human | 4603 | Details Get a Quote |
| MYBL1 Knockout A-549 Cell Line | EDJ-KQ22681 | Human | 4603 | Details Get a Quote |
