Gene content    
PBX1 ( by HUGO)
Pre-B-Cell Leukemia Homeobox 1
Oncogene
Pre-B-Cell Leukemia Homeobox 1
Pre-B-Cell Leukemia Transcription Factor 1
Homeobox Protein PBX1
Homeobox Protein PRL
PRL
NCBI: 1q23    Ensembl: 1q23.3
PBX1_HUMANSize: 430 amino acidsMass: 46626 Da

  • 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 and TLX1. Isoform PBX1a interacts with MEIS2 isoform 4, SP1, SP3 and KLF4. Isoform PBX1b is part of a PDX1:PBX1b:MEIS2b complex; PBX1b recruits Meis2B to the complex Sequence caution: Sequence=AAA36764.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; 2 PDB 3D structures from [IMAGE] and Proteopedia [IMAGE] for PBX1: 1B72 (3D) [IMAGE] 1PUF (3D) [IMAGE]
  • Tissue specificity: Expressed in all tissues except in cells of the B and T lineage [IMAGE] Pathway & Disease-focused RT2 Profiler PCR Array including PBX1: Notch Signaling Targets in human mouse rat Primer Products: [IMAGE] OriGene qPCR primer pairs and template standards f
  • Function:
    UniProtKB/Swiss-Prot Summary: PBX1_HUMAN, P40424 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)
  • Similarity:
    Belongs to the TALE/PBX homeobox family
                          
    Contains 1 homeobox DNA-binding domain [IMAGE]
  • Protein Domain/Family    
    Source ID Domain Name Type
    InterProIPR001356Homeobox_domHomeoboxDomain
    IPR005542PBXPBXDomain
    IPR009057Homeodomain-likeHomeodomain-likeDomain
    BlocksIPB000047Lambda and other repressor helix-turn-helix signatureLambda and other repressor helix-turn-helix signature
    IPB005542PBX domainPBX domain

    Gene Ontology    
    Type Term Evidence Source Pub
    Biological Process negative regulation of sequence-specific DNA binding transcription factor activity IDA GOA 15684392
    Cellular Component cytoplasm IDA GOA 18973687
    Molecular Function DNA binding IDA GOA 10052460
    protein binding IPI GOA 10052460
    sequence-specific DNA binding transcription factor activity NAS GOA 10500199
    transcription factor binding IPI GOA 15684392

    Disorder & Mutation    
    Source Disease
    Genatlasacute leukemia preB cell,with translocation t(1;19)(q23;p13.3) (see TCF3),upregulating the granulocyte colony-stimulating factor receptor (CSF3R)
    SWISS-PROTNote=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

    PBX1 cross reference    
    PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene