Disease-gene associations mined from literature

Literature associating PBX1 and autosomal dominant non-syndromic intellectual disability 29

PBX1 [ENSP00000405890]

Pre-B-cell leukemia transcription factor 1; Binds the sequence 5'-ATCAATCAA-3'. Acts as a transcriptional activator of PF4 in complex with MEIS1. Converted into a potent transcriptional activator by the (1;19) translocation. May have a role in steroidogenesis and, subsequently, sexual development and differentiation. Isoform PBX1b as part of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element. Probably in complex with MEIS2, is involved in transcriptional regulation by KLF4. Acts as a transcriptional activator of NKX2-5 and a transcriptional repressor of CDKN2B. Together with NKX2-5, it is required for spleen development through a mechanism that involves CDKN2B repression (By similarity); Belongs to the TALE/PBX homeobox family.

Synonyms:  PBX1,  PBX1p,  hPBX1,  A0A024R919,  DKFZP686B09108 ...

Linkouts:  STRING  Pharos  UniProt  OMIM