PBX3 (PBX homeobox 3)
- symbol:
- PBX3
- locus group:
- protein-coding gene
- location:
- 9q33.3
- gene_family:
- TALE class homeboxes and pseudogenes
- alias symbol:
- None
- alias name:
- None
- entrez id:
- 5090
- ensembl gene id:
- ENSG00000167081
- ucsc gene id:
- uc004bqb.4
- refseq accession:
- NM_001134778
- hgnc_id:
- HGNC:8634
- approved reserved:
- 1990-09-10
PBX3（Pre-B-cell leukemia transcription factor 3）属于PBX基因家族，该家族包括PBX1、PBX2、PBX3和PBX4，它们编码的蛋白质是TALE（Three Amino acid Loop Extension）类同源盒转录因子家族成员。PBX家族基因的共同特点是含有高度保守的同源盒结构域，能够与HOX蛋白等其他转录因子结合形成复合物，调控胚胎发育、细胞分化和器官形成等关键生物学过程。PBX3主要在胚胎发育阶段高表达，参与神经系统、造血系统和骨骼系统的发育调控。在成体中，PBX3的表达水平较低，但在某些组织如胸腺、脾脏和大脑中仍有表达。PBX3蛋白通过与HOX蛋白相互作用，调节下游靶基因的转录，影响细胞增殖、分化和凋亡。PBX3的突变或表达异常与多种疾病相关，例如在急性髓系白血病（AML）中，PBX3的过表达可促进白血病细胞的增殖和存活，抑制其凋亡，与疾病进展和不良预后相关。此外，PBX3在神经母细胞瘤、胃癌和结直肠癌等多种肿瘤中也被发现表达上调，可能通过激活Wnt/β-catenin等信号通路促进肿瘤发生和发展。降低PBX3表达可抑制肿瘤细胞的增殖、侵袭和转移能力，提示其作为潜在治疗靶点的可能性。在胚胎发育过程中，PBX3表达异常可能导致神经系统或骨骼系统的发育缺陷。PBX3还与炎症反应和免疫调节有关，可能通过调控免疫细胞的功能影响机体的免疫应答。PBX家族成员功能存在一定冗余性，但各自也有独特的表达模式和生物学作用，PBX3在造血和神经系统中的功能较为突出。研究PBX3的调控机制和功能有助于深入理解发育异常和肿瘤发生的分子机制，并为相关疾病的诊断和治疗提供新的思路。
None
Gene Ontology
Subcellular localization of PBX3 (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for PBX3:
| Interacting Gene | Interaction | Source/Score |
| Disease | Score | NofPmids | NofSnps | Source |
| Cleft Lip | 0.002367032 | 1 | 0 | GAD |
| Cleft Palate | 0.002367032 | 1 | 0 | GAD |
| leukemia | 0.001628651 | 6 | 0 | BeFree |
| Leukemogenesis | 0.000814326 | 3 | 0 | BeFree |
| Leukemia, Myelocytic, Acute | 0.000542884 | 2 | 0 | BeFree |
| Congenital Abnormality | 0.000271442 | 1 | 0 | BeFree |
| Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
| Pilocytic Astrocytoma | 0.000271442 | 1 | 0 | BeFree |
| Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
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