Overview

Location [1]
1q23.3
Protein [2]
Pre-B-cell leukemia transcription factor 1
Synonyms [1]
CAKUHED

Pre-B-cell leukemia homeobox 1 (PBX1) is a gene that encodes a nuclear protein that may function in the regulation of osteogenesis and skeletal patterning/programming.  A chromosomal translocation resulting in a fusion protein contributes to the development of pre-B-cell acute lymphoblastic leukemia. Fusions, missense mutations, and silent mutations are observed in cancers such as intestinal cancer, lung cancer, and skin cancer.

Significance of PBX1 in Diseases

Acute Lymphoblastic Leukemia +

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Chronic Myeloid Leukemia +

Hodgkin Lymphoma +

Acute Biphenotypic Leukemia +

Burkitt Lymphoma +

Multiple Myeloma +

Non-Hodgkin Lymphoma +

Mantle Cell Lymphoma +

Anaplastic Large Cell Lymphoma +

Chronic Lymphocytic Leukemia +

Acute Leukemia +

Follicular Lymphoma +

Lymphoma +

Marginal Zone Lymphoma +

Juvenile Myelomonocytic Leukemia +

Myelofibrosis +

Myeloproliferative Neoplasm +

Prolymphocytic Leukemia +

Acute Undifferentiated Leukemia +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Chronic Myelomonocytic Leukemia +

Lymphoblastic Lymphoma +

Diffuse Large B-Cell Lymphoma +

Lymphoplasmacytic Lymphoma +

Plasma Cell Leukemia +

Secondary Acute Myeloid Leukemia +

T-Cell Lymphoblastic Leukemia/Lymphoma +

Therapy-Related Myelodysplastic Syndrome +

Acute Erythroid Leukemia +

Acute Megakaryoblastic Leukemia +

B-Cell Prolymphocytic Leukemia +

Burkitt Leukemia +

Small Lymphocytic Lymphoma +

T-Cell Prolymphocytic Leukemia +

Acute Leukemia Of Ambiguous Lineage +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Adult T-Cell Leukemia/Lymphoma +

Aplastic Anemia +

Leukemia +

Malignant Solid Tumor +

Mature T-Cell And NK-Cell Lymphoma/Leukemia +

Mature T-Cell And NK-Cell Neoplasm +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Myelodysplastic Syndrome With Excess Blasts-2 +

Myelodysplastic/Myeloproliferative Neoplasm +

Myeloid Sarcoma +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Peripheral T-Cell Lymphoma +

Plasma Cell Neoplasm +

Refractory Anemia +

Refractory Anemia With Excess Blasts +

Refractory Anemia With Excess Blasts-1 +

T-Cell And NK-Cell Neoplasm +

Therapy-Related Acute Myeloid Leukemia +

Therapy-Related Chronic Myelomonocytic Leukemia +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.