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]

Description

pre-B-cell leukemia homeobox 1

Protein family

Mapped to UniProt SWISS-PROT, Mutated genes in cancer, Potentially secreted proteins, Transcription factors

Chromosome

1:q23.3 (164524821 - 164868533)

Ensembl ID

ENSG00000185630  (ver. 71.37)

Orthologs

Mouse Pbx1: ENSMUSG00000052534

Human splice variants
Mouse splice variants