MNX1 Gene Summary [Human]
This gene encodes a nuclear protein, which contains a homeobox domain and is a transcription factor. Mutations in this gene result in Currarino syndrome, an autosomic dominant congenital malformation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Details
| Type | Protein Coding |
| Official Symbol | MNX1 |
| Official Name | motor neuron and pancreas homeobox 1 [Source:HGNC Symbol;Acc:HGNC:4979] |
| Ensembl ID | ENSG00000130675 |
| Bio databases IDs | |
| Aliases | motor neuron and pancreas homeobox 1 |
| Synonyms | HB9, HLXB9, HOXHB9, MNR2, motor neuron and pancreas homeobox 1, SCRA1 |
| Species | Human, Homo sapiens |
| 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 human MNX1 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 factor activity, sequence-specific DNA binding
- transcription regulator
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- double-stranded DNA binding
- sequence-specific DNA binding
- homeodomain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- epithelial cancer
- Duchenne muscular dystrophy
- Currarino syndrome
- breast cancer
- invasive breast carcinoma
- breast carcinoma
- invasive breast cancer
- urothelial bladder carcinoma
- transitional cell bladder cancer
role in cell
- migration
- expression in
- function
- proliferation
- apoptosis
- growth
- quantity
- differentiation
- abnormal morphology
- guidance
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
- cytosol
- nucleoplasm
- nucleoli
- nuclear speckles
- chromatin
- perikaryon
- axons
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MNX1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- central nervous system development
- neuron projection morphogenesis
- endocrine pancreas development
- spinal cord motor neuron cell fate specification
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytosol
- nucleolus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity