Lmx1a Gene Summary [Mouse]
Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including midbrain dopaminergic neuron differentiation; olfactory behavior; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including negative regulation of neuron differentiation; nervous system development; and regulation of cell growth. Predicted to be active in nucleus. Is expressed in several structures, including brain; ear; embryo ectoderm; notochord; and somite. Used to study Parkinson's disease. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 7. Orthologous to human LMX1A (LIM homeobox transcription factor 1 alpha). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Lmx1a |
| Official Name | LIM homeobox transcription factor 1 alpha [Source:MGI Symbol;Acc:MGI:1888519] |
| Ensembl ID | ENSMUSG00000026686 |
| 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 | 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 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
phenotypes
- abnormal bony labyrinth
- abnormal cell migration
- abnormal cell physiology
- abnormal cell proliferation
- abnormal cerebellar foliation
- abnormal cerebellum development
- abnormal cerebellum morphology
- abnormal cerebellum posterior vermis morphology
- abnormal cochlea morphology
- abnormal cochlear inner hair cell morphology
- abnormal cochlear labyrinth morphology
- abnormal ear development
- abnormal fertility/fecundity
- abnormal glossopharyngeal ganglion morphology
- abnormal glossopharyngeal nerve morphology
- abnormal hippocampus CA3 region morphology
- abnormal hippocampus development
- abnormal hippocampus pyramidal cell layer
- abnormal inner ear morphology
- abnormal inner ear vestibule morphology
- abnormal interparietal bone morphology
- abnormal membranous labyrinth morphology
- abnormal motor coordination/ balance
- abnormal neural tube morphology
- abnormal neuron differentiation
- abnormal otic vesicle development
- abnormal parietal bone morphology
- abnormal placing response
- abnormal resting posture
- abnormal rhombomere 3 morphology
- abnormal rhombomere 4 morphology
- abnormal rhombomere 5 morphology
- abnormal rhombomere morphology
- abnormal roof plate morphology
- abnormal semicircular canal morphology
- abnormal tail development
- abnormal utricle morphology
- abnormal vertebral arch development
- abnormal vestibular labyrinth morphology
- abnormal vestibular saccule morphology
- absent otoliths
- absent pinna reflex
- absent semicircular canals
- absent utricle
- absent vestibular saccule
- altered righting response
- ataxia
- belly spot
- belted
- bidirectional circling
- bleb
- circling
- deafness
- decreased body size
- decreased brain size
- decreased dopaminergic neuron number
- dilated endolymphatic duct
- dilated endolymphatic sac
- female infertility
- head tossing
- hydrocephaly
- hyperactivity
- impaired hearing
- impaired righting response
- increased or absent threshold for auditory brainstem response
- infertility
- inner ear hypoplasia
- kinked tail
- male infertility
- postnatal lethality
- premature death
- prenatal lethality complete penetrance
- preweaning lethality incomplete penetrance
- reduced cerebellar foliation
- short scala media
- short tail
- small cerebellum
- spina bifida
- syndromic hearing loss
- synostosis
- uterus hypoplasia
- white spotting
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 mouse 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