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PBX1

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]
Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Transcription factors

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Excitatory neurons, Inhibitory neurons, Astrocytes, Oligodendrocyte precursor cells)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (HEL, NTERA-2, SK-BR-3)

Interaction

Forms a heterodimer with MEIS1 which binds DNA (PubMed:19799567). The PBX1-MEIS1 heterodimer binds a cAMP-responsive sequence in CYP17 (By similarity). It also binds a consensus region in the SOX3 promoter (PubMed:19799567). PBX1 forms heterotrimers with MEIS1 and a number of HOX proteins including HOXA9, HOXD4, HOXD9 and HOXD10 (By similarity). Forms heterodimers with HOXA1, HOXA5, HOXB7 and HOXB8 which bind the 5'-TGATTGAT-3' consensus sequence (PubMed:9191052). Also forms heterodimers with HOXA5, HOXB7, HOXB8, HOXC8 and HOXD4 which bind the 5'-ATCAATCAA-3' consensus sequence (PubMed:7791786). Interacts with PBXIP1 (PubMed:10825160). Interacts with TLX1 (PubMed:19559479). Interacts with FOXC1 (PubMed:15684392). Interacts with MN1 (PubMed:31839203). [Isoform PBX1a]: Interacts with MEIS2 isoform 4, SP1, SP3 and KLF4. [Isoform PBX1b]: Part of a PDX1:PBX1b:MEIS2B complex; PBX1b recruits MEIS2B to the complex.

Molecular function

Activator, Developmental protein, DNA-binding, Repressor

More Types Infomation

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