PBX1 Gene
PBX Homeobox 1: A Key Transcription Factor in Development and Disease
Gene Information Card
| Symbol | PBX1 |
|---|---|
| Full Name | PBX homeobox 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 5087 ncbi.nlm.nih.gov/gene/5087 |
| Ensembl ID | ENSG00000185630 |
| UniProt ID | P40424 |
| OMIM ID | 176310 |
| HGNC ID | 8632 |
| Aliases | PBX, MGC126627, MGC126629 |
Description
PBX1 (PBX homeobox 1) is a protein-coding gene that encodes a transcription factor belonging to the TALE (three-amino-acid loop extension) homeobox family. It plays a critical role in embryonic development, particularly in the formation of the pancreas, kidney, and hematopoietic system. PBX1 forms heterodimers with other homeobox proteins (e.g., HOX, MEIS) to regulate target gene expression. Dysregulation of PBX1 is implicated in several cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute lymphoblastic leukemia (ALL) | PBX1 fusions (e.g., E2A-PBX1) act as oncogenic transcription factors driving leukemogenesis. | ClinVar, COSMIC |
| Pancreatic agenesis | Loss-of-function mutations in PBX1 impair pancreatic development. | OMIM |
| Congenital anomalies of kidney and urinary tract (CAKUT) | PBX1 haploinsufficiency disrupts kidney morphogenesis. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 45.2 | High |
| Kidney | 28.7 | Medium |
| Bone marrow | 22.1 | Medium |
| Lung | 12.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 35.6 | High expression; relevant to PBX1 fusion studies |
| HEK 293 (embryonic kidney) | 18.4 | Moderate expression |
| MCF7 (breast cancer) | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.503G>A (p.Arg168His) | Missense | <0.1% | Loss of DNA-binding activity; associated with CAKUT |
| E2A-PBX1 fusion | Chromosomal translocation | Common in t(1;19) ALL | Oncogenic; constitutive activation of PBX1 target genes |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the homeodomain (e.g., p.Arg168His) reduce DNA binding and transcriptional activity, leading to developmental defects.
Gain of Function (GOF)
E2A-PBX1 fusion protein exhibits enhanced transcriptional activation and promotes leukemogenesis.
Dominant Negative (DN)
Some PBX1 mutants may interfere with wild-type PBX1 or partner proteins, but specific dominant-negative variants are not well characterized.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • sequence-specific DNA binding |
| • RNA polymerase II cis-regulatory region sequence-specific DNA binding | • protein heterodimerization activity |
| • nucleus | • regulation of transcription by RNA polymerase II |
| • embryonic organ development |
Pathways
• HOX/PBX/MEIS signaling pathway
• Developmental biology
• Transcriptional misregulation in cancer
Protein Summary
PBX1 is a 430-amino-acid transcription factor with a conserved homeodomain and a TALE motif. It binds DNA as a heterodimer with HOX or MEIS proteins, regulating genes involved in cell proliferation, differentiation, and organogenesis. The protein is predominantly nuclear and is essential for normal development of the pancreas, kidney, and blood cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PBX1 Knockout HEK293 Cell Line | EDJ-KQ2502 | Human | 5087 | Details Get a Quote |
| PBX1 Knockout A-549 Cell Line | EDJ-KQ23096 | Human | 5087 | Details Get a Quote |
| PBX1 Knockout HCT 116 Cell Line | EDJ-KQ23097 | Human | 5087 | Details Get a Quote |
| PBX1 Knockout HeLa Cell Line | EDJ-KQ23098 | Human | 5087 | Details Get a Quote |
