PBX1 (PBX homeobox 1)
- symbol:
- PBX1
- locus group:
- protein-coding gene
- location:
- 1q23.3
- gene_family:
- TALE class homeboxes and pseudogenes
- alias symbol:
- None
- alias name:
- None
- entrez id:
- 5087
- ensembl gene id:
- ENSG00000185630
- ucsc gene id:
- uc001gct.4
- refseq accession:
- NM_002585
- hgnc_id:
- HGNC:8632
- approved reserved:
- 1990-09-10
PBX1（Pre-B-cell leukemia homeobox 1）属于PBX基因家族，该家族是一类同源盒（homeobox）基因，编码转录因子，在胚胎发育和细胞分化中起关键作用。PBX家族成员（包括PBX1、PBX2、PBX3和PBX4）的共同特点是含有同源结构域，能够与其他转录因子（如HOX蛋白）形成复合物，调控下游靶基因的表达，从而影响器官形成、造血系统和神经系统发育等过程。PBX1主要在胚胎发育中表达，参与多种组织的形成，如骨骼、胰腺和心脏，并在成体组织中维持一定的表达水平以调控细胞增殖和分化。PBX1的突变或表达异常可能导致发育缺陷或疾病。例如，PBX1基因的易位（如与E2A基因融合）与儿童急性淋巴细胞白血病（ALL）的发生相关，这种突变会导致异常的转录调控，促进白血病细胞的增殖。此外，PBX1的某些突变还与先天性畸形（如肾脏或骨骼发育异常）有关。如果PBX1过表达，可能增强其与其他转录因子的结合能力，过度激活下游靶基因，导致细胞增殖失控，甚至促进肿瘤发生。相反，PBX1表达降低可能影响正常发育过程，导致组织功能障碍或发育迟缓。PBX1还与糖尿病有关，因为它在胰腺β细胞中调控胰岛素分泌相关基因的表达。PBX1的异常表达可能影响β细胞功能，进而影响血糖调控。总之，PBX1是一个重要的发育调控基因，其表达水平或功能的改变可能对机体产生广泛影响，包括发育异常、癌症和代谢疾病等。
This gene encodes a nuclear protein that belongs to the PBX homeobox family of transcriptional factors. Studies in mice suggest that this gene may be involved in the regulation of osteogenesis, and required for skeletal patterning and programming. A chromosomal translocation, t(1;19) involving this gene and TCF3/E2A gene, is associated with pre-B-cell acute lymphoblastic leukemia. The resulting fusion protein, in which the DNA binding domain of E2A is replaced by the DNA binding domain of this protein, transforms cells by constitutively activating transcription of genes regulated by the PBX protein family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
Gene Ontology
Subcellular localization of PBX1 (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for PBX1:
| Interacting Gene | Interaction | Source/Score |
| Name |
|---|
| 5202 Transcriptional misregulation in cancers [PATH:hsa05202] |
| Name |
|---|
| Developmental Biology |
| Transcriptional regulation of pluripotent stem cells |
| Disease | Score | NofPmids | NofSnps | Source |
| Burkitt Lymphoma | 0.120542884 | 4 | 0 | BeFree_CTD_human |
| Substance-Related Disorders | 0.12 | 1 | 0 | CTD_human |
| LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3 | 0.12 | 0 | 0 | ORPHANET |
| Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.016306375 | 41 | 0 | BeFree_LHGDN |
| Acute lymphocytic leukemia | 0.013843535 | 51 | 0 | BeFree |
| Pituitary Diseases | 0.010043349 | 37 | 0 | BeFree |
| leukemia | 0.008967513 | 23 | 0 | BeFree_LHGDN |
| Adenoma | 0.008957582 | 33 | 0 | BeFree |
| Precursor B-cell lymphoblastic leukemia | 0.006243163 | 23 | 0 | BeFree |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.00554839 | 3 | 0 | BeFree_GAD |
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