PBX1 1:164524821-164868533

Forward strand gene: PBX homeobox 1

Also known as: ENSG00000185630

Function: 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). Source: UniProt

DECIPHER holds no open-access sequence variants in this gene

Name RefSeq Location Size Type Protein Exons
PBX1-008 (ENST00000467023)
1:164524821-164533252
8.43 kb processed_transcript 3
PBX1-006 (ENST00000485769)
1:164528437-164529594
1.16 kb protein_coding 70aa 3
PBX1-007 (ENST00000340699)
1:164528644-164761975
233.33 kb protein_coding 170aa 4
PBX1-001 (ENST00000420696) NM_001204961
NM_001204963
NM_002585
1:164528872-164821068
292.20 kb canonical protein_coding 430aa 9
PBX1-010 (ENST00000498497)
1:164529060-164654202
125.14 kb retained_intron 3
PBX1-201 (ENST00000401534)
1:164529060-164790820
261.76 kb protein_coding 347aa 7
PBX1-012 (ENST00000559240)
1:164529060-164815913
286.85 kb protein_coding 339aa 7
PBX1-002 (ENST00000367897)
1:164529060-164816192
287.13 kb protein_coding 347aa 8
PBX1-202 (ENST00000540236)
1:164529060-164818639
289.58 kb protein_coding 420aa 9
PBX1-020 (ENST00000605467)
1:164529250-164529687
438 bp retained_intron 1
PBX1-013 (ENST00000559578)
1:164532042-164769120
237.08 kb protein_coding 159aa 4
PBX1-015 (ENST00000560469)
1:164546021-164816338
270.32 kb processed_transcript 8
PBX1-016 (ENST00000496120)
1:164559587-164816338
256.75 kb processed_transcript 8
PBX1-004 (ENST00000468104)
1:164574430-164816308
241.88 kb processed_transcript 9
PBX1-017 (ENST00000560641)
1:164595243-164816338
221.10 kb protein_coding 325aa 9
PBX1-003 (ENST00000474046)
1:164595273-164651720
56.45 kb processed_transcript 5
PBX1-009 (ENST00000482110)
1:164600218-164769126
168.91 kb protein_coding 128aa 3
PBX1-011 (ENST00000558796)
1:164621133-164868533
247.40 kb processed_transcript 3
PBX1-019 (ENST00000558837)
1:164742149-164776808
34.66 kb protein_coding 138aa 4
PBX1-018 (ENST00000559560)
1:164756880-164769033
12.15 kb protein_coding 97aa 3
PBX1-203 (ENST00000540246)
1:164761729-164854300
92.57 kb protein_coding 301aa 7
PBX1-005 (ENST00000465089)
1:164781965-164819594
37.63 kb retained_intron 3