ID:PBX1_HUMAN DESCRIPTION: RecName: Full=Pre-B-cell leukemia transcription factor 1; AltName: Full=Homeobox protein PBX1; AltName: Full=Homeobox protein PRL; 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. SUBUNIT: Forms a heterodimer with MEIS1 which binds DNA including a cAMP-responsive sequence in CYP17. Also forms heterotrimers with MEIS1 and a number of HOX proteins including HOXA9, HOXD4, HOXD9 and HOXD10. Interacts with PBXIP1. SUBCELLULAR LOCATION: Nucleus (Probable). TISSUE SPECIFICITY: Expressed in all tissues except in cells of the B and T lineage. 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. SIMILARITY: Belongs to the TALE/PBX homeobox family. SIMILARITY: Contains 1 homeobox DNA-binding domain. SEQUENCE CAUTION: Sequence=AAA36764.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/PBX1.html";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P40424
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0005515 protein binding GO:0008134 transcription factor binding GO:0043565 sequence-specific DNA binding GO:0046982 protein heterodimerization activity GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
Biological Process: GO:0001655 urogenital system development GO:0001658 branching involved in ureteric bud morphogenesis GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006366 transcription from RNA polymerase II promoter GO:0006694 steroid biosynthetic process GO:0007221 positive regulation of transcription of Notch receptor target GO:0007275 multicellular organism development GO:0007548 sex differentiation GO:0008284 positive regulation of cell proliferation GO:0009887 animal organ morphogenesis GO:0009952 anterior/posterior pattern specification GO:0009954 proximal/distal pattern formation GO:0010971 positive regulation of G2/M transition of mitotic cell cycle GO:0030154 cell differentiation GO:0030278 regulation of ossification GO:0030325 adrenal gland development GO:0030326 embryonic limb morphogenesis GO:0035019 somatic stem cell population maintenance GO:0035162 embryonic hemopoiesis GO:0042127 regulation of cell proliferation GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity GO:0045665 negative regulation of neuron differentiation GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0048536 spleen development GO:0048538 thymus development GO:0048568 embryonic organ development GO:0048706 embryonic skeletal system development
AK291415 - Homo sapiens cDNA FLJ76851 complete cds, highly similar to Homo sapiens pre-B-cell leukemia transcription factor 1 (PBX1), mRNA. M86546 - H.sapiens PBX1a and PBX1b mRNA, complete cds. AK299673 - Homo sapiens cDNA FLJ61369 complete cds, highly similar to Pre-B-cell leukemia transcription factor 1. BC101578 - Homo sapiens pre-B-cell leukemia homeobox 1, mRNA (cDNA clone MGC:126627 IMAGE:8069084), complete cds. BC143435 - Homo sapiens cDNA clone IMAGE:9051943. BC143451 - Homo sapiens cDNA clone IMAGE:9051959. BT006705 - Homo sapiens pre-B-cell leukemia transcription factor 1 mRNA, complete cds. AB384885 - Synthetic construct DNA, clone: pF1KB4019, Homo sapiens PBX1 gene for pre-B-cell leukemia transcription factor 1, complete cds, without stop codon, in Flexi system. AK301540 - Homo sapiens cDNA FLJ52874 complete cds, highly similar to Pre-B-cell leukemia transcription factor 1. JD049672 - Sequence 30696 from Patent EP1572962. JD181677 - Sequence 162701 from Patent EP1572962. MH401086 - Homo sapiens TCF3-PBX1 fusion protein mRNA, partial cds. M31522 - Human translocation (t1;19) fusion protein (E2A/PRL) mRNA, 3' end. M31170 - Human homeo box containing (prl) protein mRNA, 3' end. CR749446 - Homo sapiens mRNA; cDNA DKFZp686B09108 (from clone DKFZp686B09108). BX647313 - Homo sapiens mRNA; cDNA DKFZp686N1593 (from clone DKFZp686N1593). JD125476 - Sequence 106500 from Patent EP1572962. JD188982 - Sequence 170006 from Patent EP1572962. JD486425 - Sequence 467449 from Patent EP1572962. JD055968 - Sequence 36992 from Patent EP1572962. JD086872 - Sequence 67896 from Patent EP1572962. AK022962 - Homo sapiens cDNA FLJ12900 fis, clone NT2RP2004321. AK022520 - Homo sapiens cDNA FLJ12458 fis, clone NT2RM1000672. AL049381 - Homo sapiens mRNA; cDNA DKFZp586J2118 (from clone DKFZp586J2118). BC044624 - Homo sapiens cDNA clone IMAGE:5288080. JD263058 - Sequence 244082 from Patent EP1572962. JD209624 - Sequence 190648 from Patent EP1572962. JD385097 - Sequence 366121 from Patent EP1572962. JD305928 - Sequence 286952 from Patent EP1572962. JD314770 - Sequence 295794 from Patent EP1572962. JD247945 - Sequence 228969 from Patent EP1572962. JD056921 - Sequence 37945 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein P40424 (Reactome details) participates in the following event(s):
R-HSA-480204 POU5F1 (OCT4), SOX2, NANOG, KLF4, PBX1, SMAD2 bind the NANOG promoter R-HSA-452723 Transcriptional regulation of pluripotent stem cells R-HSA-9013508 NOTCH3 Intracellular Domain Regulates Transcription R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis R-HSA-1266738 Developmental Biology R-HSA-9012852 Signaling by NOTCH3 R-HSA-5619507 Activation of HOX genes during differentiation R-HSA-157118 Signaling by NOTCH R-HSA-162582 Signal Transduction
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
