PBXIP1
PBX Homeobox Interacting Protein 1
Gene Information Card
| Symbol | PBXIP1 |
|---|---|
| Full Name | PBX Homeobox Interacting Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 57326 ncbi.nlm.nih.gov/gene/57326 |
| Ensembl ID | ENSG00000143384 |
| UniProt ID | Q96A56 |
| OMIM ID | 618444 |
| HGNC ID | 21149 |
| Aliases | HPIP, PBXIP1, FLJ10856 |
Description
PBXIP1 (PBX Homeobox Interacting Protein 1) encodes a protein that interacts with PBX homeodomain proteins, modulating transcriptional activity and cell proliferation. It is involved in hematopoiesis, cell migration, and cancer progression. The gene is located on chromosome 1q21.3 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of PBXIP1 promotes cell proliferation and migration via interaction with PBX1 and activation of AKT signaling | PMID: 23431171 |
| Acute myeloid leukemia | PBXIP1 is a target of the MLL-AF9 fusion and contributes to leukemogenesis | PMID: 28167672 |
| Hepatocellular carcinoma | Upregulation of PBXIP1 correlates with poor prognosis and enhanced metastasis | PMID: 31073156 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 9.8 | Medium |
| Breast | 6.2 | Low |
| Liver | 4.1 | Low |
| Brain | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.2 | High expression |
| HEK293 (embryonic kidney) | 8.7 | Moderate expression |
| K562 (leukemia) | 11.4 | High expression |
| HepG2 (liver cancer) | 5.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% in gnomAD | Unknown functional impact |
| c.457G>A (p.Glu153Lys) | Missense | <0.01% in gnomAD | Unknown functional impact |
| c.832_833insA (p.Thr278Asnfs*12) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.832_833insA) are predicted to cause premature truncation and loss of protein function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in PBXIP1.
Dominant Negative (DN)
No evidence for dominant-negative effects in PBXIP1.
View complete mutation data：
Gene Ontology (GO)
| • transcription coactivator activity | • protein binding |
| • nucleus | • cytoplasm |
| • cell migration | • positive regulation of cell proliferation |
Pathways
• PBX1-HOX pathway
• AKT signaling
• MLL-AF9 target genes
Protein Summary
PBXIP1 (HPIP) is a 731-amino acid protein that localizes to both nucleus and cytoplasm. It binds PBX1 and modulates HOX gene transcription, influencing cell fate decisions. The protein also interacts with AKT to promote cell survival and migration. Overexpression is linked to several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PBXIP1 Knockout HEK293 Cell Line | EDJ-KQ14695 | Human | 57326 | Details Get a Quote |
| PBXIP1 Knockout A-549 Cell Line | EDJ-KQ43773 | Human | 57326 | Details Get a Quote |
| PBXIP1 Knockout HCT 116 Cell Line | EDJ-KQ45001 | Human | 57326 | Details Get a Quote |
| PBXIP1 Knockout HeLa Cell Line | EDJ-KQ45002 | Human | 57326 | Details Get a Quote |
| PBXIP1 Knockout ZR-75-1 Cell Line | EDJ-KZ382 | Human | 57326 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
