PBX1
Sign in to saveAlso known as PBX homeobox 1, CAKUHED
Pre-B-cell leukemia transcription factor 1 is a protein that in humans is encoded by the PBX1 gene. The homologous protein in Drosophila is known as extradenticle, and causes changes in embryonic development.
Gene data
PBX1- Name
- PBX homeobox 1
- Type
- protein-coding
- Position
- 164,555,584–164,899,296 (+)
- Aliases
- CAKUHED
- Ensembl
- ENSG00000185630
- RefSeq RNA
- NM_001204961.2, NM_001204963.2, NM_001353130.1, NM_001353131.2, NM_002585.4
- RefSeq protein
- NP_001191890.1, NP_001191892.1, NP_001340059.1, NP_001340060.1, NP_002576.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
PBX homeobox 1
- Symbol
- PBX1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:164,555,584-164,899,296
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- HoxB1-Pbx1 heterodimer binding DNA 1b72.png
Show 8 more facts
- HomoloGene ID
- 20574
- exact match
- identifiers.org/ncbigene/5087
- genetic association
- breast cancer
- found in taxon
- Homo sapiens
- genomic end
- 164868533
- genomic start
- 164524821
- chromosome
- human chromosome 1
- cytogenetic location
- 1q23.3
via Wikidata · CC0
~2 min read
Encyclopedic overview
6 sectionsContents
- Function
- Interactions
- Fruit fly homolog
- References
- Further reading
- External links
Pre-B-cell leukemia transcription factor 1 is a protein that in humans is encoded by the PBX1 gene. The homologous protein in Drosophila is known as extradenticle, and causes changes in embryonic development.
== Function == Mice studies suggest PBX1 is involved in bone generation and skeletal patterning.
Excerpted from Wikipedia’s “PBX1” article, available under the CC BY-SA 4.0 licence.