PBX1
entrez
5087
canonical
uniprot
P40424
canonical
ensembl
ENSG00000185630
resolver
ensp
ENSP00000356872
resolver
ensp
ENSP00000405890
resolver
ensp
ENSP00000485692
resolver
ensp
ENSP00000514643
resolver
ensp
ENSP00000514644
resolver
ensp
ENSP00000694262
resolver
ensp
ENSP00000727827
resolver
genesymbol
PBX1
resolver
genesymbol_syn
PRL
resolver
hgnc
HGNC:8632
resolver
uniprot
A8K5V0
resolver
uniprot
B4DSC1
resolver
uniprot
F5H4U9
resolver
uniprot
Q53YC7
resolver
uniprot
Q5T488
resolver
uniprot_entry
A8K5V0_HUMAN
resolver
uniprot_entry
PBX1_HUMAN
resolver
uniprot_entry
Q53YC7_HUMAN
resolver
uniprot_sec
B4DSC1
resolver
uniprot_sec
F5H4U9
resolver
uniprot_sec
Q5T488
resolver
amino_acid_sequence
MDEQPRLMHSHAGVGMAGHPGLSQHLQDGAGGTEGEGGRKQDIGDILQQIMTITDQSLDEAQARKHALNCHRMKPALFNVLCEIKEKTVLSIRGAQEEEPTDPQLMRLDNMLLAEGVAGPEKGGGSAAAAAAAAASGGAGSDNSVEHSDYRAKLSQIRQIYHTELEKYEQACNEFTTHVMNLLREQSRTRPISPKEIERMVSIIHRKFSSIQMQLKQSTCEAVMILRSRFLDARRKRRNFNKQATEILNEYFYSHLSNPYPSEEAKEELAKKCGITVSQVSNWFGNKRIRYKKNIGKFQEEANIYAAKTAVTATNVSAHGSQANSPSTPNSAGSSSSFNMSNSGDLFMSVQSLNGDSYQGAQVGANVQSQVDTLRHVISQTGGYSDGLAASQMYSPQGISANGGWQDATTPSSVTSPTEGPGSVHSDTSN
uniprot
proteins
disease_involvement
DISEASE: Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay (CAKUTHED) [MIM:617641]: An autosomal dominant disorder characterized by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear. Most patients have hearing loss, and some may have global developmental delay. {ECO:0000269|PubMed:28270404, ECO:0000269|PubMed:28566479}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=A chromosomal aberration involving PBX1 is a cause of pre-B-cell acute lymphoblastic leukemia (B-ALL). Translocation t(1;19)(q23;p13.3) with TCF3. TCF3-PBX1 transforms cells by constitutively activating transcription of genes regulated by PBX1 or by other members of the PBX protein family. TCF3-PBX1 binds the DNA sequence 5'-ATCAATCAA-3'. {ECO:0000269|PubMed:1671560, ECO:0000269|PubMed:1967983, ECO:0000269|PubMed:8327485}.
uniprot
proteins
function
FUNCTION: Transcription factor which binds the DNA sequence 5'-TGATTGAT-3' as part of a heterodimer with HOX proteins such as HOXA1, HOXA5, HOXB7 and HOXB8 (PubMed:9191052). Binds to the DNA sequence 5'-TGATTGAC-3' in complex with a nuclear factor which is not a class I HOX protein (PubMed:9191052). Has also been shown to bind the DNA sequence 5'-ATCAATCAA-3' cooperatively with HOXA5, HOXB7, HOXB8, HOXC8 and HOXD4 (PubMed:7791786, PubMed:8327485). Acts as a transcriptional activator of PF4 in complex with MEIS1 (PubMed:12609849). Also activates transcription of SOX3 in complex with MEIS1 by binding to the 5'-TGATTGAC-3' consensus sequence (By similarity). In natural killer cells, binds to the NFIL3 promoter and acts as a transcriptional activator of NFIL3, promoting natural killer cell development (By similarity). Plays a role in the cAMP-dependent regulation of CYP17A1 gene expression via its cAMP-regulatory sequence (CRS1) (By similarity). Probably in complex with MEIS2, involved in transcriptional regulation by KLF4 (PubMed:21746878). Acts as a transcriptional activator of NKX2-5 and a transcriptional repressor of CDKN2B (By similarity). Together with NKX2-5, required for spleen development through a mechanism that involves CDKN2B repression (By similarity). {ECO:0000250|UniProtKB:P41778, ECO:0000269|PubMed:12609849, ECO:0000269|PubMed:21746878, ECO:0000269|PubMed:7791786, ECO:0000269|PubMed:8327485, ECO:0000269|PubMed:9191052}.; FUNCTION: [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. {ECO:0000250|UniProtKB:P41778}.
uniprot
proteins
mass_dalton
46626
uniprot
proteins
protein_family
TALE/PBX homeobox family
uniprot
proteins
pubmed
10052460
uniprot
proteins
pubmed
10825160
uniprot
proteins
pubmed
11267683
uniprot
proteins
pubmed
12609849
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15684392
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
1671560
uniprot
proteins
pubmed
1682799
uniprot
proteins
pubmed
19559479
uniprot
proteins
pubmed
1967983
uniprot
proteins
pubmed
19799567
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20553494
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21746878
uniprot
proteins
pubmed
28270404
uniprot
proteins
pubmed
28566479
uniprot
proteins
pubmed
31839203
uniprot
proteins
pubmed
7791786
uniprot
proteins
pubmed
7910944
uniprot
proteins
pubmed
8327485
uniprot
proteins
pubmed
9191052
uniprot
proteins
sequence_length
430
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28270404}.
uniprot
proteins