LMX1A Gene Summary [Human]
This gene encodes a homeodomain and LIM-domain containing protein. The encoded protein is a transcription factor that acts as a positive regulator of insulin gene transcription. This gene also plays a role in the development of dopamine producing neurons during embryogenesis. Mutations in this gene are associated with an increased risk of developing Parkinson's disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
Details
| Type | Protein Coding |
| Official Symbol | LMX1A |
| Official Name | LIM homeobox transcription factor 1 alpha [Source:HGNC Symbol;Acc:HGNC:6653] |
| Ensembl ID | ENSG00000162761 |
| Bio databases IDs | |
| Aliases | LIM homeobox transcription factor 1 alpha |
| Synonyms | DFNA7, dr, dreher, LIM homeobox transcription factor 1 alpha, LIM homeobox transcription factor 1 α, LMX1, LMX1.1, sst |
| 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 LMX1A 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
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- nucleic acid binding
- LIM is a small protein-protein interaction domain, containing two zinc fingers
- double-stranded DNA binding
- protein 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
- autosomal dominant deafness type 7
- sensorineural hearing loss
- hypoplasia
- brain cancer
- atrial fibrillation
- group 4 medulloblastoma
role in cell
- cell death
- expression in
- differentiation
- proliferation
- phosphorylation in
- migration
- production in
- quantity
- growth
- survival
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
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LMX1A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- synapse organization
- neuron differentiation
- cerebellum development
- negative regulation of neuron differentiation
- axon guidance
- central nervous system neuron differentiation
- olfactory behavior
- positive regulation of transcription from RNA polymerase II promoter
- memory
- dentate gyrus development
- regulation of transcription from RNA polymerase II promoter
- locomotory behavior
- dopaminergic neuron differentiation
- regulation of cell growth
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- RNA polymerase II 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