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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PBXIP1
PBX homeobox interacting protein 1
Chromosome 1 · 1q21.3
NCBI Gene: 57326Ensembl: ENSG00000163346.18HGNC: HGNC:21199UniProt: B4E0K4
80PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transcription corepressor activitynucleoplasmprotein bindingcytosolgastric cancercolorectal carcinomacancerovarian cancer
✦AI Summary

PBXIP1 (PBX homeobox interacting protein 1) is a multifunctional coregulator with diverse roles spanning development, cell migration, and disease. Primarily, PBXIP1 acts as a transcriptional corepressor of PBX homeobox proteins, inhibiting PBX1-HOX complex DNA binding and blocking E2A-PBX1 transcriptional activity 1. Beyond transcriptional regulation, PBXIP1 functions as a noncanonical guanine nucleotide exchange factor for Rab5, localizing to focal adhesions and endosomal compartments where it regulates focal adhesion disassembly, integrin trafficking, and cell migration 2. Additionally, PBXIP1 tethers estrogen receptor-alpha to microtubules, influencing estrogen signaling. PBXIP1 is critical during development, with expression detected in definitive endoderm and pancreatic lineages during embryogenesis 3, and playing essential roles in chondrogenesis during limb development 4. Clinically, PBXIP1 emerges as a significant cancer biomarker. High PBXIP1 expression correlates with poor prognosis, metastatic spread, and epithelial-mesenchymal transition in colorectal cancer 5, and associates with worse outcomes across multiple cancer types 1. Recent multi-omics analysis identified PBXIP1 as critically associated with Alzheimer's disease neuropathological traits (β-amyloid, tau tangles) and clinical diagnosis, potentially through roles in astrocytes and hippocampal neurons via the mTOR pathway 6. PBXIP1 dysregulation also links to renal fibrosis, chr1 kidney disease, and osteoarthritis, highlighting its importance in pathological conditions.

Sources cited
1
PBXIP1/HPIP functions as a corepressor of PBX1, regulates cancer phenotypes and metastasis, and is dysregulated in renal fibrosis and chronic kidney disease
PMID: 34090932
2
PBXIP1 functions as a noncanonical guanine nucleotide exchange factor for Rab5, regulating focal adhesion turnover and cell migration
PMID: 37797694
3
PBXIP1 expression associates with metastasis and worse overall survival in colorectal cancer, correlating with epithelial-mesenchymal transition
PMID: 35785747
4
PBXIP1 is expressed in definitive endoderm and pancreatic lineages during embryonic stem cell differentiation and normal development
PMID: 25148369
5
PBXIP1 is a target of the m6A-mediated GDF5-RUNX cascade essential for chondrogenesis during limb skeletal development
PMID: 40307229
6
PBXIP1 is critically associated with Alzheimer's disease neuropathological traits and clinical diagnosis, potentially through roles in astrocytes and mTOR pathway
PMID: 37984333
7
PBXIP1 gene expression is regulated by ERN1-mediated endoplasmic reticulum stress signaling in glioma cells
PMID: 36753664
8
PBXIP1 is part of a prognostic gene signature in pancreatic cancer associated with patient risk stratification
PMID: 41050689
Disease Associationsⓘ20
gastric cancerOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.08Suggestive
renal cell carcinomaOpen Targets
0.08Suggestive
head and neck squamous cell carcinomaOpen Targets
0.07Suggestive
microphthalmia with limb anomaliesOpen Targets
0.07Suggestive
dyslexiaOpen Targets
0.07Suggestive
lung cancerOpen Targets
0.07Suggestive
AcheiropodiaOpen Targets
0.06Suggestive
Alzheimer diseaseOpen Targets
0.06Suggestive
upper limb mesomelic dysplasiaOpen Targets
0.06Suggestive
Leri-Weill dyschondrosteosisOpen Targets
0.06Suggestive
osteoarthritisOpen Targets
0.06Suggestive
osteoarthritis, kneeOpen Targets
0.06Suggestive
total knee arthroplastyOpen Targets
0.06Suggestive
brachydactyly type A1Open Targets
0.06Suggestive
Acromesomelic dysplasia, Grebe typeOpen Targets
0.06Suggestive
metaphyseal anadysplasiaOpen Targets
0.06Suggestive
Léri-Weill dyschondrosteosisOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZNF160Shared pathway100%KLF3Shared pathway50%CIAPIN1Shared pathway25%RTKN2Shared pathway25%AHSPShared pathway25%KIRREL3Shared pathway20%
Tissue Expression6 tissues
Ovary
100%
Brain
58%
Lung
45%
Heart
42%
Bone Marrow
31%
Liver
25%
Gene Interaction Network
Click a node to explore
PBXIP1ZNF160KLF3CIAPIN1RTKN2AHSPKIRREL3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96AQ6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.18LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.97 [0.80–1.18]
RankingsWhere PBXIP1 stands among ~20K protein-coding genes
  • #5,949of 20,598
    Most Researched80
  • #12,425of 17,882
    Most Constrained (LOEUF)1.18
Genes detectedPBXIP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Single-cell and multi-omics analysis identifies TRIM9 as a key ubiquitination regulator in pancreatic cancer.
PMID: 41050689
Front Immunol · 2025
1.00
2
Two decades of a protooncogene HPIP/PBXIP1: Uncovering the tale from germ cell to cancer.
PMID: 34090932
Biochim Biophys Acta Rev Cancer · 2021
0.90
3
PBXIP1 - An indicator for poor outcome and metastatic spread in colorectal cancer.
PMID: 35785747
Pathol Res Pract · 2022
0.80
4
HPIP and RUFY3 are noncanonical guanine nucleotide exchange factors of Rab5 to regulate endocytosis-coupled focal adhesion turnover.
PMID: 37797694
J Biol Chem · 2023
0.70
5
ERN1 dependent impact of glucose and glutamine deprivations on PBX3, PBXIP1, PAX6, MEIS1, and MEIS2 genes expression in U87 glioma cells.
PMID: 36753664
Endocr Regul · 2023
0.60