Pbx1 Gene Summary [Mouse]
This gene encodes a homeobox protein that belongs to the three-amino-acid loop extension/Pre-B cell leukemia transcription factor (TALE/PBX) family of proteins. The encoded protein is involved in several biological processes during embryogenesis including steroidogenesis, sexual development and the maintenance of hematopoietic stem cells. This protein functions in the development of several organ systems and plays a role in skeletal patterning and programming. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
Details
| Type | Protein Coding |
| Official Symbol | Pbx1 |
| Official Name | pre B cell leukemia homeobox 1 [Source:MGI Symbol;Acc:MGI:97495] |
| Ensembl ID | ENSMUSG00000052534 |
| Bio databases IDs | |
| Aliases | pre B cell leukemia homeobox 1 |
| Synonyms | 2310056B04RIK, CAKUHED, D230003C07Rik, LOC100131938, PBX homeobox 1, pre B cell leukaemia homeobox 1, pre B cell leukemia homeobox 1 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Pbx1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- PBC domain
- nuclear export signal
- DNA binding domain
- nucleic acid binding
- alpha helix
- transcription factor binding
- inhibitory domain
- protein binding
- sequence-specific DNA binding
- Hox cooperativity motif
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- TALE motif
- double-stranded DNA binding
- homodimerization domain
- heterodimerization domain
- homeodomain
Pathways
Biological processes and signaling networks where the Pbx1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- cancer
- anemia
- colorectal cancer
- acute myeloid leukemia
- congenital anomalies of kidney and urinary tract syndrome with abnormal ears or developmental delay with or without hearing loss
- hypoplasia
- cleft lip
- tumorigenesis
- edema
phenotypes
- abnormal adrenal gland zona fasciculata morphology
- abnormal axial skeleton morphology
- abnormal clavicle morphology
- abnormal craniofacial bone morphology
- abnormal developmental patterning
- abnormal dorsal-ventral axis patterning
- abnormal embryonic growth/weight/body size
- abnormal embryonic tissue morphology
- abnormal gonad rudiment morphology
- abnormal hyoid bone lesser horn morphology
- abnormal kidney cortex morphology
- abnormal kidney medulla morphology
- abnormal left-right axis symmetry of the somites
- abnormal limb bone morphology
- abnormal limb bud morphology
- abnormal limb morphology
- abnormal liver development
- abnormal lymph node primary follicle morphology
- abnormal malleus morphology
- abnormal metanephric mesenchyme morphology
- abnormal metanephros morphology
- abnormal middle ear ossicle morphology
- abnormal nephrogenic mesenchyme morphogenesis
- abnormal nephrogenic zone morphology
- abnormal outer ear morphology
- abnormal pancreatic islet morphology
- abnormal pelvic girdle bone morphology
- abnormal proximal-distal axis patterning
- abnormal response/metabolism to endogenous compounds
- abnormal scapula morphology
- abnormal second pharyngeal arch morphology
- abnormal styloid process morphology
- abnormal ureteric bud elongation
- abnormal vasculogenesis
- absent adrenal gland
- absent common myeloid progenitor cells
- absent oval window
- absent pancreatic islets
- absent spleen
- absent stapes
- anemia
- decreased CD4-positive alpha beta T cell number
- decreased CD8-positive alpha-beta T cell number
- decreased body size
- decreased chondrocyte proliferation
- decreased hematocrit
- decreased insulin secretion
- decreased mature B cell number
- decreased nephron number
- decreased renal glomerulus number
- delayed kidney development
- diaphragmatic hernia
- ectopic kidney
- ectopic thymus
- edema
- exocrine pancreas hypoplasia
- hunched posture
- impaired branching involved in ureteric bud morphogenesis
- impaired glucose tolerance
- impaired hematopoiesis
- increased insulin sensitivity
- lethality throughout fetal growth and development complete penetrance
- liver hypoplasia
- low mean erythrocyte cell number
- outer ear hypoplasia
- palatal shelf hypoplasia
- pallor
- premature chondrocyte differentiation
- pulmonary hypoplasia
- renal hypoplasia
- short styloid process
- single kidney
- skin edema
- small adrenal glands
- small kidney
- small snout
- stomach hypoplasia
role in cell
- activation in
- expression in
- phosphorylation in
- apoptosis
- proliferation
- growth
- differentiation
- formation
- cell viability
- migration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- Cytoplasm
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Pbx1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- embryonic hemopoiesis
- anterior/posterior pattern specification
- negative regulation of neuron differentiation
- spleen development
- positive regulation of transcription from RNA polymerase II promoter
- proximal/distal pattern formation
- thymus development
- embryonic limb morphogenesis
- sex differentiation
- G2/M transition of mitotic cell cycle
- stem cell proliferation
- adrenal gland development
- positive regulation of G2/M transition of mitotic cell cycle
- embryonic organ development
- brain development
- neuron development
- steroid biosynthetic process
- embryonic skeletal system development
- regulation of transcription from RNA polymerase II promoter
- organ morphogenesis
- eye development
- urogenital system development
- natural killer cell differentiation
- positive regulation of stem cell proliferation
- branching involved in ureteric bud morphogenesis
- regulation of ossification
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- transcription corepressor binding
- DNA binding
- transcription cofactor binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity