Version 5.4
Homo sapiens Gene: PBX1
Summary
InnateDB Gene IDBG-104447.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PBX1
Gene Name pre-B-cell leukemia homeobox 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000185630
Encoded Proteins
IDBP-104451
pre-B-cell leukemia homeobox 1
IDBP-104453
pre-B-cell leukemia homeobox 1
IDBP-389460
pre-B-cell leukemia homeobox 1
IDBP-807931
pre-B-cell leukemia homeobox 1
IDBP-599305
pre-B-cell leukemia homeobox 1
IDBP-595399
pre-B-cell leukemia homeobox 1
IDBP-588422
pre-B-cell leukemia homeobox 1
IDBP-601241
pre-B-cell leukemia homeobox 1
IDBP-598169
pre-B-cell leukemia homeobox 1
IDBP-602852
pre-B-cell leukemia homeobox 1
IDBP-591111
pre-B-cell leukemia homeobox 1
IDBP-807953
pre-B-cell leukemia homeobox 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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, Mar 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:164555584-164899296
Strand Forward strand
Band q23.3
Transcripts
ENST00000367897 ENSP00000356872
ENST00000340699 ENSP00000341455
ENST00000420696 ENSP00000405890
ENST00000467023
ENST00000485769 ENSP00000473998
ENST00000498497
ENST00000468104
ENST00000474046
ENST00000482110 ENSP00000453163
ENST00000496120
ENST00000465089
ENST00000559240 ENSP00000453188
ENST00000559578 ENSP00000452804
ENST00000560469
ENST00000560641 ENSP00000452727
ENST00000558796
ENST00000558837 ENSP00000453331
ENST00000559560 ENSP00000453262
ENST00000540236 ENSP00000439943
ENST00000605467
ENST00000612123 ENSP00000483563
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 63 experimentally validated interaction(s) in this database.
They are also associated with 26 interaction(s) predicted by orthology.
Experimentally validated
Total 63 [view]
Protein-Protein 48 [view]
Protein-DNA 15 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 26 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0043565 sequence-specific DNA binding
GO:0046982 protein heterodimerization activity
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:0006694 steroid biosynthetic process
GO:0007548 sex differentiation
GO:0008284 positive regulation of cell proliferation
GO:0009887 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:0030278 regulation of ossification
GO:0030325 adrenal gland development
GO:0030326 embryonic limb morphogenesis
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
Cellular Component
GO:0005634 nucleus
GO:0005667 transcription factor complex
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000052534
View Gene Order
ENSBTAG00000013801
Not yet available
Pathways
NETPATH
REACTOME
REACT_111045
Developmental Biology pathway
REACT_200812
Transcriptional regulation of pluripotent stem cells pathway
KEGG
INOH
PID NCI
reg_gr_pathway
Glucocorticoid receptor regulatory network
Cross-References
SwissProt
TrEMBL H0YLD4 H0YLM3
UniProt Splice Variant
Entrez Gene 5087
UniGene Hs.557097 Hs.595163 Hs.603299 Hs.707188 Hs.720898
RefSeq NM_001204961 NM_001204963 NM_002585 XM_005245228 XM_005245229 XM_005245230 XM_006711347
HUGO HGNC:8632
OMIM 176310
CCDS CCDS1246 CCDS55654
HPRD 08889
IMGT
EMBL AL357568 AL359255 AL390119 AL391001
GenPept
RNA Seq Atlas 5087

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca