Location [1]
Protein [2]
Pre-B-cell leukemia transcription factor 1
Synonyms [1]

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.

PBX1 is altered in 0.16% of all cancers with melanoma, breast invasive ductal carcinoma, esophageal adenocarcinoma, glioblastoma, and rectal adenocarcinoma having the greatest prevalence of alterations [3].

PBX1 GENIE Cases - Top Diseases

The most common alterations in PBX1 are PBX1 A135dup (0.22%), PBX1 A233V (0.22%), PBX1 A244V (11.11%), PBX1 A310T (0.20%), and PBX1 A313S (0.39%) [3].

PBX1 GENIE Cases - Top Alterations

Significance of PBX1 in Diseases

Acute Lymphoblastic Leukemia +

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Chronic Myeloid Leukemia +

Hodgkin Lymphoma +

Non-Hodgkin Lymphoma +

Acute Biphenotypic Leukemia +

Burkitt Lymphoma +

Multiple Myeloma +

Mantle Cell Lymphoma +

Acute Leukemia +

Anaplastic Large Cell Lymphoma +

Chronic Lymphocytic 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 +

Myelodysplastic/Myeloproliferative Neoplasm +

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-1 +

Myelodysplastic Syndrome With Excess Blasts-2 +

Myeloid Sarcoma +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Peripheral T-Cell Lymphoma +

Plasma Cell Neoplasm +

Refractory Anemia +

Refractory Anemia With Excess Blasts +

T-Cell And NK-Cell Neoplasm +

Therapy-Related Acute Myeloid Leukemia +

Therapy-Related Chronic Myelomonocytic Leukemia +


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 8. 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.