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Ask your administrator if you think this is wrong. ======= PBX1 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: PBX1 * **<color #00a2e8>Official Name</color>**: PBX homeobox 1 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=5087|5087]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P40424|P40424]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PBX1&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PBX1|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/176310|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: This gene encodes a nuclear protein that belongs to the PBX homeobox family of transcriptional factors. Studies in mice suggest that this gene may be involved in the regulation of osteogenesis and required for skeletal patterning and programming. A chromosomal translocation, t(1;19) involving this gene and TCF3/E2A gene, is associated with pre-B-cell acute lymphoblastic leukemia. The resulting fusion protein, in which the DNA binding domain of E2A is replaced by the DNA binding domain of this protein, transforms cells by constitutively activating transcription of genes regulated by the PBX protein family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2017]. * **<color #00a2e8>UniProt Summary</color>**: 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). {ECO:0000250, ECO:0000269|PubMed:12609849, ECO:0000269|PubMed:21746878}. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |PBC| |Homeobox KN| |Homeobox| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |positive regulation of transcription of Notch receptor target| |embryonic hemopoiesis| |adrenal gland development| |positive regulation of G2/M transition of mitotic cell cycle| |positive regulation of cell cycle G2/M phase transition| |proximal/distal pattern formation| |spleen development| |branching involved in ureteric bud morphogenesis| |thymus development| |ureteric bud morphogenesis| |mesonephric tubule morphogenesis| |nephron tubule morphogenesis| |somatic stem cell population maintenance| |nephron epithelium morphogenesis| |nephron morphogenesis| |renal tubule morphogenesis| |RNA polymerase II transcription factor complex| |positive regulation of mitotic cell cycle phase transition| |nephron tubule development| |renal tubule development| |kidney morphogenesis| |ureteric bud development| |mesonephric epithelium development| |mesonephric tubule development| |mesonephros development| |positive regulation of cell cycle phase transition| |nephron epithelium development| |endocrine system development| |nephron development| |embryonic limb morphogenesis| |Notch signaling pathway| |embryonic appendage morphogenesis| |embryonic skeletal system development| |steroid biosynthetic process| |kidney epithelium development| |branching morphogenesis of an epithelial tube| |stem cell population maintenance| |maintenance of cell number| |limb morphogenesis| |appendage morphogenesis| |positive regulation of mitotic cell cycle| |morphogenesis of a branching epithelium| |morphogenesis of a branching structure| |appendage development| |limb development| |regulation of ossification| |regulation of G2/M transition of mitotic cell cycle| |regulation of cell cycle G2/M phase transition| |anterior/posterior pattern specification| |negative regulation of neuron differentiation| |steroid metabolic process| |sex differentiation| |kidney development| |renal system development| |positive regulation of cell cycle process| |negative regulation of neurogenesis| |epithelial tube morphogenesis| |negative regulation of nervous system development| |RNA polymerase II regulatory region sequence-specific DNA binding| |urogenital system development| |regionalization| |negative regulation of cell development| |positive regulation of cell cycle| |gland development| |regulation of mitotic cell cycle phase transition| |morphogenesis of an epithelium| |embryonic organ development| |pattern specification process| |regulation of cell cycle phase transition| |DNA-binding transcription activator activity, RNA polymerase II-specific| |protein heterodimerization activity| |skeletal system development| |RNA polymerase II proximal promoter sequence-specific DNA binding| |hemopoiesis| |tissue morphogenesis| |embryonic morphogenesis| |lipid biosynthetic process| |hematopoietic or lymphoid organ development| |regulation of mitotic cell cycle| |chordate embryonic development| |immune system development| |embryo development ending in birth or egg hatching| |tube morphogenesis| |regulation of neuron differentiation| |developmental process involved in reproduction| |DNA-binding transcription factor activity| |negative regulation of cell differentiation| |regulation of cell cycle process| |regulation of neurogenesis| |tube development| |positive regulation of cell population proliferation| |regulation of nervous system development| |regulation of cell development| |negative regulation of developmental process| |animal organ morphogenesis| |embryo development| |epithelium development| |regulation of cell cycle| |negative regulation of multicellular organismal process| |lipid metabolic process| |positive regulation of transcription by RNA polymerase II| |organic cyclic compound biosynthetic process| |reproductive process| |reproduction| |DNA binding| |generation of neurons| |positive regulation of transcription, DNA-templated| |DNA-binding transcription factor activity, RNA polymerase II-specific| |regulation of cell population proliferation| |neurogenesis| |positive regulation of nucleic acid-templated transcription| |positive regulation of RNA biosynthetic process| |positive regulation of RNA metabolic process| |tissue development| |regulation of cell differentiation| |positive regulation of nucleobase-containing compound metabolic process| |positive regulation of macromolecule biosynthetic process| |positive regulation of cellular biosynthetic process| |positive regulation of gene expression| |positive regulation of biosynthetic process| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^Screen^Score^ |[[:results:exp98|BI-6727 0.04μM R03 exp98]]|-1.76| |[[:results:exp145|PNU96415E 10μM R03 exp145]]|1.72| |[[:results:exp519|RS-1 10μM R08 exp519]]|2.01| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 4819 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 3.2 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='PBX1 Expression in NALM6 Cells: 3.2'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1